Professional Documents
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The Newborn And Resuscitation
**Apgar Scoring System
+Heart Rate
.0 points – absent
.1 point - <100/min
.2 points - >100/min
+Respiration
.0 points – absent
.1 point – irregular, shallow, gasps, weak cry
.2 points – crying (vigorous)
+Color
.0 points – pale, cyanotic
.1 point – cyanotic extremities
.2 points – pink
+Tone (Muscle)
.0 points – absent
.1 point – weak, slightly flexed extremities
.2 points – active
+Reflex Irritability
.0 points – absent
.1 point – facial grimace
.2 points – active cry – withdrawal and avoidance
+NOTES
.apgar scores are routinely assessed at 1 and 5mins, and every 5 mins thereafter as long as resuscitation is continuing
.the 1-min score gives an idea of what was going on during labor and delivery
.the 5-mins score gives an idea of response to therapy (resuscitation)
.infants with score 0-3 at 5 mins and longer compared to infants with score 7-10 have a worse neurologic outcome (infant with
apgar score (0-3) have worse neurological outcome)
+The perinatal mortality rate (stillbirth) (refers to fetal deaths occurring from the 20th week of gestation until the 7th day after
birth)
+The neonatal mortality rate (infants who die between birth and 28 days of life)
+Postneonatal period (which begins after 28 days of life and extends to the end of the first year of life)
**Newborn Care
1.Vitamin K - IM
.to reduce incidence of hemorrhagic of newborn. If your baby has a deficiency of Vit K, he may spontaneously bruise or bleed
2.Prophylactic eye erythromycin
3.Umbilical cord care
4.Hearing test
5.Newborn screening test
.phenylketonuria (PKU) – is an amino acid that is needed for normal growth and development
+All Are Recognized Findings In Phenylketonuria (PKU) :
.seizures
.macrocephaly
.eczema
.blonde hair and blue sclera
+Galactosemia (is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose
properly)
**Birth Marks
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1.Salmon Patch
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**Birth Injuries
1.Skull Fractures
.linear M/C (no symptoms And no treatment nedeed)
.depressed (elevate to prevent cortical injury)
2.Brachial Plasy
.in large infant + traction of head
.is a loss of movement or weakness of the arm. It occurs when the collection of nerves around the shoulder (called the brachial
plexus) are damaged during birth
+Erb Palsy (C5 - C6) M.C nerve injury in brachial palsy (adducted / pronated arm – internally rotated arm) (if C4 affected –
diaphragmatic paralysis)
+Klumpke (C7 - C8) (hand paralysis / Horner syndrome)
3.Clavicular Fracture (Clavicle Fracture)
.is a bone fracture in the clavicle, or collarbone. Is found in 2-3% if vaginal deliveries (Rt. clavicle > Lt. clavicle - to fracture)
.M.C birth injyry (M.C bone fracture during delivery)
.predisposing factors (large size, shoulder dystocia and traumatic delivery)
.on examination (swelling, fullness over the fracture site, crepitus and decreased arm movement)
.of affected neonates 80% have no symptoms
.the injury is often diagnosed when a callus is detected ar 3-6wks of age
.radiographs are not indicated, and no specific treatment is necessary
.the parents should be advised to avoid tension on the affected arm (asymmetric moro reflex)
4.Facial Nerve Palsy
.post-difficult instrumental delivey (usually after forceps)
.peripheral injury (flacid paralysis)
.improve withen weeks
5.Caput Succedaneum
.is a diffuse, edematous and often dark swelling of the soft tissue of the scalp that across the midline and/or suture lines -
involving a serosanguinous, subcutaneous, extraperiosteal fluid collection with poorly defined margins caused by the pressure
of the presenting part of the scalp against the dilating cervix (tourniquet effect of the cervix) during delivery. It involves
bleeding below the scalp and above the periosteum (is swelling of the scalp in a newborn. It is most often brought on by
pressure from the uterus or vaginal wall during a head-first (vertex) delivery)
.is commonly found in infants who are delivered vaginally in the customary occiput-anterior position
.is commonly seen after prolonged labor in both full-term and premature infants
.resolves in fews days
6.Cephalohematoma
.is a subperiosteal hemorrhage (usually involving the parietal bone) that does not cross suture lines (limited to bone)
.the scalp hematoma is characteristically (fluctuant without discoloration of overlying skin and may not become apparent until
hours to days after delivery)
.predisposing factors (large head size, prolonged labor, vacuum extraction and forceps delivery)
.spontaneous resolution occurs over several weeks
.can cause anemia or jaundice
7.Subcutaneous Fat Necrosis
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.resolves spontaneously
**Newborn Screening
-Every newborn before discharge or day 4 of life
-Total disease screened are determined by individual states :
.phenylketonuria
.galactosemia
.hypothyroidism
.tyrosinemia (is an error of metabolism, in which the body cannot effectively break down the amino acid tyrosine)
.Hb SS
.Hb C
.cystic fibrosis
.21-hydroxylase deficiency
.G6PD
-Associations .fair hair, fair skin, blue eyes, tooth .predisposition to E.coli sepsis; develop.
abnormalities, microcephaly mental delay, speech disorders, learning disability
-Treatment .low PHE diet for life .no lactose, but no neuro. Developmental problems
*Phenylketonuria PKU
-Defect on hydroxylation of phenylalanine to tyrosine. is an inborn error of metabolism involving impaired metabolism of the
amino acid phenylalanine. Phenylketonuria is caused by absent or virtually absent phenylalanine hydroxylase (PAH) enzyme
activity
-Signs & Symptoms :
.mental retardation
.projectile vomiting
.eczema
.musty odor
.fair-haired, fair-skinned babies
*Galactosemia
-Is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia
follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose
degradation
+Galactose-1-phosphate uridyl transferase deficiency (elevated galactose 1-p. – renal/liver/brain injury)
-Signs & Symptoms :
.jaundice, hypoglycemia
.cataract
.seizure
.hepatosplenomegaly
.poor weight gain
.presented as E.coli (sepsis)
-Treatment :
.low galactose diet
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**Congenital Anomalies
1.Eye
.coloboma (defect in lid)
.aniridia (absent iris)
2.Neck
+Branchial cleft cyst (incomplete closure of branchial clefts-cysts)
.usually unilateral
.can be infected
+Thyroglossal duct cyst
.midline
.moves with swelling and tongue protusion
+Congenital torticollis
.mostly from injury to sternocleidomastoid
3.Chest
+Breast hypertrophy
.due to increased circulating hormones
+Polythelia (nipple)
.along mamary line
.may be associated with cardiac – renal abnormalities
+Poland syndrome
.amastia, pectoralis aphasia, rib deformities, webbed finger, radial nerve palsy
4.Abdomen
.mass (M.C is renal – hydronephrosis, cyst)
.umbilical hernia
.omphalocele
.gastroschisis
**Prematurity
+Low Birth Weight LBW
.<2.500g (VLBW <1.500g)
.causes (premature birth, IUGR) (maternal factors – previous LBW birth, low socioeconomic status, lack of prenatal care,
maternal age <16yrs or >35yrs, short time interval between pregnancies, unmarried status, low pregnancy weight, poor weight
gain during pregnancy, maternal substance use)
.medical causes of preterm birth (fetal distress, multiple gestations, erythroblastosis hydrops fetalis, congenital anomalies,
placenta previa, abruptio placenta, bicornuate uterus, incompetent cervix, preeclampsia, chronic medical illness, infection, drug
abuse, PROM, polyhydramnios, trauma, diethylstilbestrol exposure)
+Postmaturity
.infants born after 42 weeks gestation from last menstrual period
.characteristics (increased birth weight, absence of lanugo, decreased, absence vernix, desquamating-cracked-pale-loose-
peeling and wrinkled skin, abundant hair, long nails, meconium aspiration and depression at birth, PPHN, hypoglycemia,
hypocalcemia, polycythemia)
+Causes Of IUGR
.fetal (multiple gestation, congenital viral infections, chromosomal abnormalities, congenital malformation syndromes - CNS)
.placental (chorionic villitis, chronic abription placenta, twin-twin transfusion, placental tumor, placental insufficiency
secondary to maternal vascular disease)
.maternal (severe peripheral vascular disease, chronic hypertension, diabetic vasculopathy, preeclampsia,sickle cell anemia,
cardiac disease, renal disease, alcohol or drug abuse, reduced nutritional intake, smoking, uterine anomalies, uterine constraint
– noted in mothers of small stature and reduced weight gain during pregnancy)
**Respiratory Disorders
*Respiratory Distress Syndrome RDS (hyaline membrane disease)
-Is a syndrome in premature infants caused by developmental insufficiency of surfactant production (deficiency of mature
surfactant) and structural immaturity in the lungs. It can also result from a genetic problem with the production of surfactant
associated proteins (complex phospholipid and protein mixture that lines the alveoli, is produced by II pneumocytes)
+Is the M.C.C of respiratory failure in newborn infants
+RDS is caused by a deficiency of surfactant (The major function of surfactant is to decrease alveolar surface tension and
increase lung compliance. Surfactant prevents alveolar collapse at the end of expiration and allows for opening of the alveoli at
low intrathoracic pressures)
+Inability to maintain (deficiency) alveolar volume at end expiration (LEAD TO) decreased FRC (functional residual capacity) and
atelectasis
+The incidence of RDS increases with decreasing GA
+Primary initial pulmonary hallmark is (hypoxemia), then (hypercarbia and respiratory acidosis ensue)
-Signs & Symptoms :
.tachypnea (1st sign)
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.nasal flaring
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.cyanosis
.grunting
.chest wall retractions
.apnea
-Comlications :
.pulmonary interstitial emphysema
.pneumothorax
.pneumomediastinum
.pneumopericardium
-Diagnosis :
.best initial diagnostic test - Chest radiograph CXR – findings (Ground-glass or reticulonodular)
.most accurate diagnostic test - L/S ratio (lecithin-to-sphingomyelin ratio is <2) and phosphatidylglycerol is absent in the
amniotic fluid
-Treatment :
.best initial treatment-Oxygen
.most effective treatment-intubation and exogenous surfactant administration
*Transient Tachypnea Of The Newborn (TTN) ("wet lungs" or type II respiratory distress syndrome)
-Is a respiratory problem that can be seen in the newborn shortly after delivery. Amongst causes of respiratory distress in term
neonates, it is the most common
+Newborns' breathing during the first hours of life is more rapid (tachypnea at birth) and labored than normal because of a lung
condition called (TTN)
+Slow absorption of fetal lung fluid (LEAD TO) decreased pulmonary compliance
+Newborns At Higher Risk For TTN include those who are :
.delivered by cesarean section (C-section)
.born to mothers with diabetes
.born to mothers with asthma
.small for gestational age (small at birth)
+CXR (BEST TEST) - Findings (air trapping, fluid in fissures, perihilar streaking)
+Notes :
.M.C emergency in newborn
.90% in preterm infants
.in 1st 2wks of life, related to feeding
.bloody stool, abdominal distension, lethargy
.pneumatosis intestinalis is pathognomonic
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*Meconium Ileus
-Meconium is the first stool (bowel movement) that a newborn has. This stool is very thick and sticky. Meconium ileus is a
bowel obstruction that occurs when the meconium in your child's intestine is even thicker and stickier than normal meconium,
creating a blockage in a part of the small intestine called the ileum / Intestinal obstruction from solid meconium concretions
+Most infants with meconium ileus have a cystic fibrosis / X-ray
-Signs & Symptoms :
.bilious vomiting (green)
.abdominal distension (a swollen belly)
.failure to pass meconium (no passage of meconium)
.Neuhauser`sign (refers to a soap bubble appearance seen in the distal ileum in cases of meconium ileus, related to the air
mixed with meconium. It may be seen with barium enema if contrast passes beyond the ileocaecal valve or with small-bowel)
.peritoneal calcifications
+Impaction of meconium leads to intestinal obstruction. Mostly related to cystic fibrosis
+Symptoms (mostly in lower ileum, abdominal distension, vomiting)
-Diagnosis :
.gastrografin enema (X-ray of the large intestine that includes the colon and rectum)
*Imperforate Anus
-Birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies in males and females,
that varies from fairly minor lesions to complex anomalies
+The cause of ARMs is unknown
-Associated anomalies :
.VACTERL
V – Vertebral anomalies
A – Anal atresia
C – Cardiovascular anomalies
T – Tracheoesophageal fistula
E – Esophageal atresia
R – Renal (kidney) and/or radial anomalies
L – Limb defects
.trisomies 18 and 21
.the cat-eye syndrome (partial trisomy or tetrasomy of a maternally derived number 22 chromosome)
.Baller-Gerold syndrome
.Currarino syndrome
.caudal regression syndrome
.FG syndrome
.Johanson-Blizzard syndrome
.McKusick-Kaufman syndrome
.Pallister-Hall syndrome
.short rib-polydactyly syndrome type 1
.Townes-Brocks syndrome
.urorectal septum malformation sequence
.OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects)
*Hirschsprung Disease
-Also called congenital megacolon or congenital aganglionic megacolon, is a form of megacolon that occurs when part or all of
the large intestine or antecedent parts of the gastrointestinal tract have no ganglion cells and therefore cannot function
+M > F and 10% of cases are familial / M.C site is Rectum
+Hirschsprung's disease is diagnosed shortly after birth, although it may develop well into adulthood, because of the presence
of megacolon, or because the baby fails to pass the first stool (meconium) within 48 hours of delivery / Some cases are
diagnosed later, into childhood, but usually before age 10
-Signs & Symptoms :
.meconium ileus (1st symptom)
.green or brown vomit
.explosive stools after a doctor inserts a finger into the rectum
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*Duodenal Atresia
-Is the congenital absence or complete closure of a portion of the lumen of the duodenum / Complete obstruction or stenosis
of duodenum caused by an ischemic insult during development of failure of recanalization
+It causes increased levels of amniotic fluid during pregnancy (polyhydramnios) and intestinal obstruction in newborn babies
+During pregnancy, duodenal atresia is associated with increased amniotic fluid in the uterus, which is called polyhydramnios.
This increase in amniotic fluid is caused by the inability of the fetus to swallow the amniotic fluid and absorb it in their digestive
tract
-Anatomic Location :
.85% are distal to the ampulla of vater
.15% are proximal to the ampulla of vater (these present with nonbilious vomiting)
-Signs & Symptoms :
.bilious vomiting (green vomit) – at 1st day (if distal to the ampulla) / nonbilious vomiting (if fistal to the ampulla)
.epigastric distention
.plain abdominal film revealing (double bubble)
-Complications :
.serious congenital anomalies
+Late complications may occur in about 12% of patients with duodenal atresia, and the mortality rate for these complications is
6%
+20-40% of all infants with duodenal atresia have Down syndrome (trisomy 21) / 8% all infants with Down syndrome have
duodenal atresia
-Diagnosis :
.X-ray of the abdomen (double bubble sign)
-Treatment :
.suctioning out any fluid that is trapped in the stomach, providing fluids intravenously
.surgical repair of the intestinal closure
*Tracheoesophageal Fistula
-Is an abnormal connection (fistula) between the esophagus and the trachea. TEF is a common congenital abnormality, but
when occurring late in life is usually the sequela of surgical procedures such as a laryngectomy
+TEF can also occur due to pressure necrosis by a tracheostomy tube in apposition to a nasogastric tube (NGT)
-Signs & Symptoms :
.salivation
.choking
.coughing
.vomiting
.cyanosis coincident with the onset of feeding
+Esophageal atresia and the subsequent inability to swallow typically cause polyhydramnios in utero. Rarely it may present in
an adult
-Associations :
.dysphagia and thoracic problems
+Children with TEF can also be born with other abnormalities, most commonly those described in VACTERL association - a
group of anomalies which often occur together, including heart, kidney and limb deformities. 6% of babies with TEF also have a
laryngeal cleft
**Jaundice
-First appears in the face and progress down as the level increased
+Physiologic Jaundice VS Pathologic Jaundice
.Appears on 2nd to 3rd DOL (term) .May appear in first 24hrs of life
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**INFECTIONS
*Neonatal Sepsis
-Early (1st week) / Late (8-28 days)
-Most Common Organisms :
.group B streptococcus GBS (M.C)
.E.coli
.Listeria monocytogenes
.HSV, enterovirus
-Signs & Symptoms :
.tachypnea
.cyanosis
.crying
.poor feeding
.seizure
-Risk Factors :
.prematurity
.chorioamnionitis, UTI
.intrapartum fever
.prolonged rupture of membranes PROM
-Diagnosis :
.sepsis workup (CBC, differential and platelets, blood culture, urine analysis and culture, chest radiographic)
.lumbar puncture (not routinely performed unless there is a likelihood of meningitis, irritability, lethargy, hypothermia)
-Treatment :
.if no evidence of meningitis (ampicillin and aminoglycoside until 48-72hr culture are negative)
.if meningitis or diagnosis is possible (ampicillin and third-generation cephalosporin, NOT ceftriaxone)
+Beta Hemolytic streptococci group A is responsible for :
.Acute glomerulonephritis
.Rheumatic fever
.Scarlet fever
.Impetigo
*Toxoplasmosis
-Causative Agent (Toxoplasma gondii)
-Clinical Manifestations :
.rash (maculopapular)
.lymphadenopathy
.hepatosplenomegaly
.jaundice
.thrombocytopenia
.secondary to in utero meningoencephalitis
.hydrocephalus with generalized calcifications
.microcephaly
.chorioretinitis
.seizures
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.psychomotor calcification
-Diagnosis :
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.congenital infection cinfirmed by (positive IgG and IgM antibody titres) in the infant
.neurologic examinations with lumbar puncture and head CT
-Treatment :
.maternal treatment during pregnancy reduces the likelihood of transmission significantly (spiramycin) in 1st trimester
.infants are treated with pyrimethamine + sulfadiazine and leucovorin (corticosteroids for ocular and CNS disease)
+Maternal infection worldwide primarily from (ingestion of undercooked or raw meat containing tissue cyst. Ingestion of water
or food with oocytes that have been excreted by infected cats – fecal-oral)
+Only primary infection of the mother, which is usually asymptomatic, results in congeninatl infection
+Infants with congenital infection are asymptomatic in 70% to 90% of cases
*Congenital Rubella
-Causative Agent (Rubella virus)
-Clinical Manifestations :
.ophthalmologic (cataracts, pigmentary retinopathy, microphthalmia, congenital glaucoma)
.auditory (congenital hearing loss)
.cardiac (patent ductus arteriosus PDA, peripheral pulmonary artery stenosis)
.blueberry muffin spots (extramedullary hematopoiesis)
.thrombocytopenia
.IUGR (M.C)
.hepatosplenomegaly
.growth retardation
.interstitial pneumonitis
.radiolucent bone disease
.microcephaly
.mental and motor retardation
-Diagnosis :
.presence of Rubella specific IgM or rising IgG titre
.cardiac, dermatology examination
+Congenital Rubella syndrome results from transplacental transmission or Rubella
+Vaccination should not be given during pregnancy
*Cytomegalovirus (CMV)
-Causative Agent (CMV)
-Clinical Manifestations :
.hepatosplenomegaly
.jaundice
.retinitis
.IUGR
.periventricular calcifications
.microcephaly
.thrombocytopenia
.sensorineural hearing loss (deafness)
.neuromuscular abnormalities
.mental retardation
-Diagnosis :
.CMV culture positive from urine, stool, respiratory tract secretions
.CSF obtained within 3wks of birth
.positive CMV specific IgM
.neurologic evaluation with head CT and brain MRI is recommended
-Treatment :
.gancyclovir
+Neonatal CMV infection is common, and result from transplacental transmission, inoculation during passage through the
vaginal canal, or via the ingestion of infected breast milk
+Most cases of congenital CMV are asymptomatic
.disseminated disease involving multiple organs, most prominently liver and lungs
+HSV 1 (localized CNS disease with or without seizures)
+HSV 2 (localized disease to the skin, eye and mouth)
-3 Patterns (keratoconjunctivitis) :
.local (skin, eye, mouth - 5-14 days)
.CNS (lethargy, seizure - 3-4 weeks)
.disseminated (highest mortality, pnemonic, shock, hepatitis - 5-7 days)
-Diagnosis :
.positive viral cultures from CSF, skin, vesicles, conjunctivae, urine, blood, mouth, nasopharynx, and/or rectum
.positive HSV PCR of CSF
-Treatment :
.IV acyclovir ASAP
+Most neonatal HSV infection is caused by HSV 2 (because it accounts for the majority of genital herpes)
+The child is infected as he or she moves through the vaginal canal
+The risk of HSV infection at delivery for an infant born vaginally to a mother with primary genital infection is 50%
+The risk of HSV infection at delivery for an infant born vaginnaly to a mother shedding HSV as a result of reactivation infection
is <5%
*Congenital Syphilis
-Causative Agent (Treponema Pallidum)
-Clinical Manifestations :
.hepatosplenomegaly
.rhinitis (snuffles)
.lymphadenopathy
.mucocutaneous lesions
.osteochondritis and pseudoparalysis
.eczematoid skin rash
.hemolytic anemia
.thrombocytopenia
.maculopapular rash - including (palms of soles, desquamates)
.failure to thrive
.skeletal manifestations
.hutchinson teeth
.clutton joints, saber shins, saddle nose, osteochondritis
.rhagades (thickening and fissure of corners of mouth)
-Diagnosis :
.nontreponemal test such as RPR or VDRL, supported by treponemal test such as IgM FTA-ABS (immunoglobulin fluorescent
treponemal antibody absorption)
-Treatment :
.penicillin
+Syphilis results from transplacental transmission of Treponema Pallidum in utero
+Syphilis in the untreated pregnant woman may be transmitted to the fetus at any time, but fetal transfer is more likely during
the first year of maternal infection
*Varicella
-Causative Agent (Varicella-zoster virus VZV)
-Clinical Manifestations :
+Congenital Varicella Syndrome
.<20wks gestation – varicella embryopathy (1-2%)
.limp hypoplasia
.cutaneous scarring
.eye abnormalities
.CNS damage
+Neonatal Chickenpox
.>20wks gestation
.generalized, pruritic, vesicular rash
.bacterial superinfection of skin lesions
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.pneumonia
.CNS involvement (cerebellar ataxia and encephalitis)
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.thrombocytopenia
-Diagnosis :
.tissue culture, CSF, biopsy tissue
.PCR
-Treatment :
.Infants born to mothers with onset of varicella 5 or more days before delivery require no specific treatment other than
isolation, if kept in the hospital
.Infants whose mothers have onset of varicella within 5 days before delivery, or within 2 days after delivery, should receive
varicella-zoster immune globulin (VZIG), preferably at birth or within 96hrs
.Infants with acute vericella in the first weel of life should receive acyclovir for 10 days
+Varicella virus infection in the neonate results from transplacental transmission of varicella-zoster virus in utero
+90% of women of childbearing age are immune to VZV, so congenital and neonatal vericella are rare
**Neonatal Seizures
-Differs from childhood/adulthood seizure (Classic tonic-clonic seizure is uncommon)
-Types :
.focal (rhythmic twitching – face/extremities)
.multifocal (involves many muscle group)
.tonic (rigid posturing - fixed eye deviation)
.myoclonic (jerks of distal muscle groups)
.subtle (chewing – staring – blinking – apnea)
-Causes :
.hypoxic-ischemic encephalopathy (M.C.C in 1st 12-24hr after birth)
.intraventricular hemorrhage (more in preterm infant at 1-3days)
.metabolic causes (hypoglycemia, hypocalcemia, hypomagnesemia, Vit-B6 deficiency)
.infection (meningitis)
+Notes
+Maternal Disease – effect on baby
.cyanotic heart disease – IUGR
.graves – transient thyrotoxicosis
.hyperparathyroidism – hypocalcemia
.ITP (Immune Thrombocytopenic Purpura) – thrombocytopenia
.myasthenia – transient neonatal myasthenia
.SLE – congenital heart block
+Causes Cyanosis
.Congestive heart failure
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.Polycythemia
.Cold
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.Cor pulmonale
+Associated With Hypoglycemia In The Newborn
.Neonatal asphyxia
.Cold stress
.Diabetic mother
.Sepsis
.It may associate neonatal asphyxia
.It may be manifestation of nesidioblastosis
.Glucagon and steroids may be used as treatment line
.Blood sugar of 45mg% is normal in full term infants
+Causes Of Prematurity
.RDS
.NEC
.jaundice
.intraventricular hemorrhage
.sepsis – GBS (M.C)
.undescended testes
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Genetics And Dysmorphology
**Genetic Disorders
*Autosomal recessive
-2 abnormal gene to develop disease
.25% (normal)
.50% (carrier, without disease)
.25% (at risk for the disease)
-Examples :
.sickle cell anemia
.cystic fibrosis
.phenylketonuria
.galactosemia
.thalassemia
*Autosomal dominant
-1 abnormal gene is enough to develop disease
.50% (normal)
.50% (at risk for the disease)
-Examples :
.familial hypercholesterolemia
.polycystic kidney disease
.neurofibromatosis type 1-2
.hereditary spherocytosis
.marfan syndrome
.vWD
.hereditary nonpolyposis colorectal cancer
.achondroplasia
.tuberous sclerosis
*X-linked recessive
-Caused by mutations in genes on the X chromosome / Mostly affect males (females – carriers)
.50% of boys (at risk for disease)
.50% of girls (carriers)
-Examples :
.Hemophilia A-B
.G6PD
.becker muscular dystrophy
.duchenne muscular dystrophy
*X-linked dominant
-Caused by mutations in genes on the X chromosome / Very rare
-Examples :
.hypophosphatemic rickets
.rett syndrome
.incontinentia pigmenti type 2
.aicardi syndrome
.klinefelter syndrome
*Y-linked
-Also called holandric disorders, are caused by mutations on the Y chromosome. These conditions display may only be
transmitted from the heterogametic sex (e.g. male humans) to offspring of the same sex. More simply, this means that Y-linked
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disorders in humans can only be passed from men to their sons; females can never be affected because they do not possess Y-
autosomes. Y-linked disorders are exceedingly rare but the most well-known examples typically cause infertility
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-Example :
.hairy pinna
**ABNORMALITIS OF CHROMOSOMES
*Trisomy 21 (Down Syndrome)
-M.C pattern of human malformation
+Increases with advancing maternal age, nondisjunction (The most likely reason for the extra chromosome in Down's syndrome
is Nondisjunction)
-Findings :
.upward slanting palpebral fissures
.speckling of iris (Brushfield spots)
.inner epicanthal folds
.small stature
.mouth open with tongue protrusion
.mild microcephaly
.short neck, flat occiput
.single palmar crease (simian crease)
.hypotonia
.clinodactyly
.recurrent chest infections
.hearing loss
.primary gonadal deficiency
.cardiac anomaly (M.C is ECD, VSD, PDA, MVP)
.gastrointestinal anomalies (duodenal atresia, hirschsprung disease)
.hypothyroidism
.mental retardation,variable
.atlantoaxial instability
.acute lymphocytic leukemia
.early onset of alzheimer disease
-Findings:
.tall stature with long, slim limbs and little fat
.arachnodactyly
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**Metabolic Disease
+Regarding Acrodermatitis Enteropathica :
.Chronic diarrhea is present
.Caused by zinc deficiency
.Perioral dermatitis
.Loss of hair
+All of the following metabolic disorders are treated by a specifically modified formula and or diet :
.Phenylketonuria
.Maple syrup urine disease
.Galactosemia
.Fructosemia
+Colostrum :
.It has higher protein content than mature milk
.It has less sugar (carbohydrate) content than mature milk
.Sodium and potassium content are higher than in mature milk
.It contains protective antibodies and leukocytes
21
**Newborn Refluxes
+Moro Reflex (Appears - Birth) (Disappears - 4-6 Months)
+Grasp Reflex (Appears - Birth) (Disappears - 4-6 Months)
+Rooting Reflex (Appears - Birth) (Disappears - 4-6 Months)
+Stepping Reflex (Appears - Birth) (Disappears - 4-6 Months)
+Parachute Reflex (Appears 6-8 Months) (Disappears - NO)
**Development
+2-3 months
.social smile (smiles in response to touch and voice)
.head in midline while held sitting
+4 months
.laughs
.orients to voice
.coos
.like to look around
+6 months
.rolls over
.sits with pelvic support (tripod)
.feet in mouth is supine
.babbles
.stranger anxiety
+7 months
22
.takes turns
.knows full name, age and gander
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**Physical Growth
-3 Parameters (WEIGHT, LENGTH, HEAD CIRCUMFERENCE)
*Weight
-A newborn typically loses up to 10% of BW in the first week of life due to elimination of large amount of extravascular fluid.
Should regain or surpass BW by 2nd weeks
-A neonate should gain about 30gr per day in the first month of life, which slows to about 20g/day at 3rd - 4th months
.At birth (3Kg)
.Double at 6 months (6Kg)
.Triple at 1yr (9Kg)
+(1st 4 months - 750gr/per month)
+(2nd 4 months - 500gr/per month)
+(3rd 4 months - 250gr/per month)
-Growth rate slows further between 6 and 12 months and then appetite begins to decline through 18 months of age
-Then height and weight increase at a steady rate, but head-circumference rate of growth decreases somewhat (2-5yrs)
-Myelination complete by age 7
*Length
-Tall Stature Causes :
.Exogenous obesity
24
.Endocrine causes
.Androgen excess’tall as children, short as adults
.Syndromes (homocystinuria, Sotos, Klinefelter)
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-Short Stature Causes :
.Familial
.pathological (craniopharyngioma, hypothyroidism, hypopituitarism, nutritional problems)
.chronic illnesses
-Boys` highest growth stops at age (18), their peak is (13.5) / Girls` peak is (11.5) and stops at age (16)
.At birth (50cm)
.1st year(increase 25cm)
.2nd year(increase 12cm)
+Height - Double at 4 years(100Cm) and Trible at 12 years(150cm)
*Head circumference
.At birth (35cm)
.At 1St year (47cm) (The average growth of head circumference during the first year is 12cm)
.At 12 years (53cm)
+Posterior fontanel - Close at (0-6 Months)
+Anterior fontanel - Close at (14-18 Months)
+Late closure_Hypothyroidism
+Early clousre_Craniosynostosis
** Dentition
-PRIMARY (deciduous)
1.Central inciso (5-7 months)
2.Lateral inciso (7-9 months)
3.Canines (16-20 months)
4.First molar (10-16 months)
5.second molar (20-30 months)
-SECONDARY (permanent)
1.Central inciso (6-7 years)
2.Lateral inciso (7-8 years)
3.Canines (9-11 years)
*Pica
-Repeated or chronic ingestion of non-nutritive substances, paint, dirt
+After year 3, needs investigation
-Predisposing Factors :
.mental retardation
.family disorganization
.poor supervision
.psychological neglect, more COMMON with autism, brain behavioral disorders
.increased risk for (lead poisoning, iron deficiency, and parasitic infections)
**ELIMINATION DISORDERS
*Enuresis
-Voluntary or involuntary repeated discharge of urine after a developmental age when bladder control should be present thirst.
Most by age of 5yrs
-Types :
1.Primary
-M.C and usually nocturnal (nocturnal enuresis)
-Causes :
.hypersecration of ADH and/or
.receptor dysfunction
.diminished arousability during sleep
.abnormal bladder function
.anatomic malformation
.pharmacotherapy (imipramine)
2.Secondary
-After a period of dryness > 6 months / F > M
-Causes :
.psychological
.urinary tract infection
.constipation
.diabetes
*Encopresis
-Passage of feces into inappropriate places after a chronologic age of 4yrs, or equivalent developmental level
-Causes :
.psychological (toilet phobia)
.aggressive management of constipation
.painful defecation, fissures
+May be (primary-( )ما وقفsecondary-)وقف و رجع
.self injury
.possible mental retardation
-Causes :
.genetic and environment (multi factorial)
.impairment of social interaction
.impairment of verbal and non-verbal communication
-Treatment :
.behavioral and psychotherapy
+NO risk for schizophrenia
.Rubella vaccine
.BCG
+In immunocompromised :
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*Epiglottitis
-Inflammation and edema of the epiglottis and aryepiglottic folds (it is considered a life-threatening emergency because of the
propensity of the swollen tissues to result in sudden and irreversible airway occlusion) (Inflammation of epiglottis (upper
airway) – supraglottis)
+Is a medical emergency that requires anethesia for immediate intubation / emergent cricothyroidotomy
+Most cases occur during the winter months in children (3-5 years of age)
-Signs & symptoms :
.fever
.sore throat
30
.hoarseness
.progressive stridor (develop over 1-2 days)
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.sudden onset
.dyspnea and rapidly progressing obstruction
.on examination, the child appear toxic, drools
.difficulty swallowing (dysphagia)
.stridor is a late finding
-Causes :
.H-influenza type B (M.C.C)
.streptococcus pyogenes
.streptococcous pneumoniae
.staphylococcus aureus
.mycoplasma
-Complication :
.complete airway obstruction and death
-Diagnosis :
.clinical first (do nothing to upset child), controlled visualization (laryngoscopy)
.lateral neck radiographs show (thumbrinting) of the epiglottis (X-ray NOT recommended)
-Treatment :
.emergent endotracheal intubation (first step)
.tracheostomy
.IV antibiotics (ceftriaxone) (ampicillin-sulbactam or a third-generation cephalosporin)
+Incidence decreased due to vaccination
+Larynx is the M.C site of foreign body aspiration in children age <1 year
+Rt. mainstem bronchus - are the M.C site body aspiration in children age >1year
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-Treatment :
.supportive care (oxygen, fluid support)
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*Pneumonia
-Inflammation of the lung parenchyma – pulmonary tissue
+(Neonate) M.C.C is GROUP B STREPTOCOCCUS - GBS
+(Children <5yr) M.C.C is virus RSV
+(Children >5yr) M.C.C is M.pneumoniae, S.pneumoniae
-Classifications :
1.Pneumonitis (lung inflammation) (consolidation)
2.Lobar pneumonia (localized inflammation of >1 lobe of lung) (consolidation)
3.Bronchopneumonia (inflammation in bronchioles) (mucopurulent exudate)
+Mycoplasma Pneumonia
.age >5yrs / called (walking pneumonia)
.causes (Streptococcus pneumoniae)
.may have non-productive cough
.CXR findings worse than Pt. Status (interstitial pattern in lower lobes)
+Chlamydia Pneumonia
.age 6wks – 6 months
.causes (chlamydia trachomatis)
.CXR findings (hyperinflation) (ground-glass appearance)
+Viral Pneumonia
.M.C.C of pneumonia in childhood
.causes (RSV, parainfluenza)
.age >3wks - <4yrs
.may have wheezes, stridor
.CXR (diffuse streaky infiltrate)
+Bacterial Pneumonia
.age (neonate-2 months) (causes - GBS, listeria monocytogenes)
.2 months – 4yrs (causes - Streptococcus pneumonia, Staphylococcus Aureus)
.5yrs – 15yrs (causes - Streptococcus pneumonia)
.high fever, dyspnea, consolidation, increased WBC-neutrophils
+Aspiration Pneumonia
.history of toxin inhalation or food aspiration
.CXR (alveolar and rarely reticular infiltrate, localized bilateral)
-Symptoms :
+Viral
.1st day (URI symptoms, low-grade fever)
.tachypnea
.cyanosis
.examination-crackles and wheezing
+Bacterial
.more sudden shaking chills
.high fever
.dry cough
.examination-breath sounds and dullness to percussion
-Treatment :
.pneumococcus (penicillin)
.viral (supportive)
.chlamydia (erythromycin, azithromycin)
+Clinical Findings in Viral Versus Bacterial Pneumonoa :
.temperature (viral - high) (bacterial – high+)
.URI (viral – +) (bacterial - -)
.toxicity (viral - +) (bacterial - +++)
.WBC (viral – normal or dec.) (bacterial - +++)
33
.antibiotics (tobramycin)
.vitamins supplementation (A, D, E, K)
Page
**Apnea
-Cessation of breathing (>20 seconds), especially during sleep
-Types :
.central apnea
.obstructive
.mixed
-Risk Factors :
.adenotonsillar hypertrophy
.trisomy 21
.cleft palate
.macroglossia
.nasal obstruction
.neurological disorders
-Diagnosis :
.sleep-study (polysomnography) (for OSA – obstructive sleep apnea)
-Special Cases of apnea :
1.Apnea of prematurity
.in premature <36wks
.bradycardia
.treated by (theophylline, caffeine)
2.Cyanotic breath holding
.<3yrs
.after agner
3.Obesity hypoventilation
.smoking
.bottle feeding
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.day-care attendance
.allergic disease
.craniofacial anomalies
.immunodeficiency
.genetic tendencies
-Complications :
.tympanic perforation
.chronic suppurative otitis media
.mastoiditis (infection of the mastoid bone of the skull)
.meningitis (most serious complication)
+The diagnosis of AOM (should be made when there is an acute history of symptoms)
-Treatment :
.ampicillin (oral) or ceftriaxone-zinnat
**Tonsillitis
-Is inflammation of the tonsils (Severe throat inflammation) most commonly caused by viral or bacterial infection
-Signs & Symptoms :
.sore throat
.red, swollen tonsils
.pain when swallowing
.high temperature (fever)
.coughing
.headache
.tiredness
.chills
.a general sense of feeling unwell (malaise)
.white pus-filled spots on the tonsils (follicular and membranous exudation)
.swollen lymph nodes (glands) in the neck
.pain in the ears or neck
.weight loss
.difficulty ingesting and swallowing meal/liquid intake
.difficulty sleeping
-Causes :
.viral infection (M.C.C) (adenovirus, rhinovirus, influenza, coronavirus, and respiratory syncytial virus)
+It can also be caused by Epstein-Barr virus, herpes simplex virus, cytomegalovirus, or HIV
.bacterial infection (second M.C.C) (Group A β-hemolytic streptococcus (GABHS), which causes strep throat)
-Complications :
.peritonsillar abscess
.rheumatic fever
.post-streptococcal glomerulonephritis PSGN
-Treatment :
.pain relief, anti-inflammatory, fever reducing medications (paracetamol/acetaminophen and/or ibuprofen)
.sore throat relief (warm salt water gargle, lozenges, dissolved aspirin gargle (aspirin is an anti inflammatory, do not take any
other anti inflammatory drugs with this method), and warm/hot liquids.
+If the tonsillitis is caused by group A streptococcus, then antibiotics are useful, with penicillin or amoxicillin being primary
choices
+Chronic cases may be treated with tonsillectomy (surgical removal of tonsils) as a choice for treatment
**Sinusitis
-The maxillary and ethmoid sinuses are present at birth; the sphenoid and frontal sinuses develop later in childhood
+Acute bacterial sinusitis has two common clinical presentations :
.(A) persistent respiratory symptoms (>10 to 14 days) (nasal discharge, cough)
.(B) severe symptoms (high fever, purulent nasal discharge for at least 3 days)
-Differential Diagnosis :
.viral URIs
.allergic rhinitis
36
**Allergic Rhinitis
-Nasal congestion and rhinorrhea without upper respiratory infection
+Generally by 6 years of age
-Signs & Symptoms :
.nasal congestion, pruritus
.worse at night with snoring
.mouth breathing watery
.itchy eyes
.Post-nasal with cough
.wheezing
.headache
.rhinorrhea
+Food allergies more common (nuts, seafood) in young children, then skin, gastrointestinal and less often, respiratory
-Physical Examination :
.allergic shiners
.chemosis
.cobblestoning of tarsal conjunctiva
.transverse nasal crease
.pale nasal mucosa
.post-nasal drip (posterior pharynx)
.otitis media with effusion is common
-Risk Factors :
.introduction of formula or solids
.mother smoking before child is 1 year old
.heavy exposure to indroor allergens
.family history of allergic disease (Atopy-asthma)
-Complications :
.chronic sinusitis
.asthma
.middle ear effusion
.tonsil, adenoid hypertrophy
.emotional, psychological problems
-Treatment:
.antihistamine (diphenhydramine...mine) (Drug of choice)
.topical antipruritic
.oral analgesic
.systemic anatihistamine
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**Anaphylaxis
-Severe allergic reaction that can cause laryngeal edema and hypotension
-Sudden release of active mediators with cutaneous, respiratory, cardiovascvular, gastrointestinal symptoms
-Most Common Reasons :
.in hospital (latex, antibiotics, IVIg intravenous immunoglobulin), radiocontrast agents
.out of hospital (food like peanuts, insect sting, oral medications, idiopathic)
+Reactions from ingested allergens are delayed (minutes to 2 hours)
-Treatment :
.injectable epinephrine (drug of choice)
.oxygen and airway management
.epinephrine IM (IV for severe hypotension)
.intravenous fluid expansion
.H1 antagonist
.corticosteroids
.nebulized
.short-acting beta-2 agonist (with respiratory symptoms)
.H2 antagonist (if oral allergen)
**Asthma
-Is a chronic disease of the airways characterized by reversible airway obstruction, inflammation and bronchial hyper-
38
responsiveness
+Most with onset <6 years of age / M > F
+Most common reasons for hospitalization in pediatric practice
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+NOTES
+C1-C9 (increased risk of infection)
+M.C.C of hypercalcemia is primary hyperparathyroidism
+M.C.C of hypercalcemia in ‘in-Pt.’ (malignancy – Bone metastases)
+M.C.C of hypercalcemia in ‘out-Pr.’ (primary hyperparathyroidism)
+Graft versus host disease GVHD (occur after Bone marrow transplant)
+Blood transfusion is contraindicated in Bone marrow transplant
+T-cell (CD4, CD8 ...) (Cell mediated immunity)
+B-cell (plasma cell, bacterial antibody, immunoglobulin, humeral immunity)
+Complement (C1-C9) deficiency (More risk for N.meningitis)
+Neutrophil defect (Increased risk of Streptococcus aureus)
.Down syndrome
.Ebstein's anomaly
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5.Pulmonary Stenosis
6.Aortic Stenosis
-M.C.C is bicuspid aortic valve,usually asymptomatic in childrens
-Signs & Symptoms (depends on severity of obstruction) :
.angina
.chest pain
.syncope
.early systolic murmur
42
.balloon valvuloplasty
.valve replacement
2.Tricuspid Atresia
-No blood from Rt atrium to Rt ventricle, blood pass through foramen ovale to left atrial
-Symptoms :
.cyanosis
.increased left ventricle hypertrophy
-Diagnosis :
.chest X-ray (pulmonary under circulation)
.ECG (left axis deviation plus left ventricular hypertrophy)
.echo (best)
-Treatment :
.PGE1
.surgery
43
3.Ebstein Anomaly
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5.Truncus Arteriosus
-Single arterial trunk arise from heart receive blood from both ventricle
+VSD is always present
+pulmonary blood flow is greatly increased and results in heart failure
-Diagnosis :
.chest X-ray (heart enlargement)
.ECG (biventricular hypertrophy)
.echo (BEST)
-Treatment :
.treat heart failure
.surgery in first few weeks of life
6.Eisenmenger`s Syndrome
**Infective Endocarditis
+Subacute infective endocarditis / M.C bacteria is (Streptococcus viridans)
+Acute infective endocarditis / M.C bacteria is (staphylococcus aureus)
+Most Pts. have pre existing congenital heart disease
+Most commonly occur after surgical or dental procedures
-Signs & Symptoms :
.prolonged fever
44
.wight loss
.fatigue
.headache
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.clubbing
.murmur
.splenomegaly
.stroke
.petechiae
.CNS abscess, hemorrhage
.arthralgia
.osler nodes (painful nodes on finger or toes)
.janeway lesions
.splinter hemorrhage
.roth spots
-Risk Factors :
.VSD (highest risk Pts. are those with VSD) (Lt. Sided heart obstructive disease)
.TOF
.aortic stenosis
.PDA
.valve replacement
-Complications :
.M.C is heart failure
.pulmonary emboli
.meningitis
.abscess brain, heart, kidney
-Diagnosis :
.positive blood culture
.echo
-Treatment :
.IV antibiotics for 4-6 weeks
+Streptococcus viridans (penicillin) (M.C.C, especially after dental procedures)
+Staphylococcus aureus (nafcillin or oxacillin)
+MRSA (vancomycin)
+Mitral valve (M.C valve infected)
+Streptococcus bovis (associated with colon cancer)
+Staphylococcus epidermidis (prosthetic valve)
+Fungal (post-open heart surgery)
+Major +Minor
.carditis .fever
.polyarthritis .arthralgia
.erythema marginatum .elevated ESR, CRP
.chorea .prolonged PR interval in ECG
.subcutaneous nodules .plus evidence of preceding streptococci infection
-Treatment :
.bed rest
.antibiotics (pencillin or erythromycin) for 10 days
.anti-inflammatory (aspirin)
.dyspnea on exertion
.angina
.palpitation
.syncope
.perfusion to brain
.risk of sudden death
.left ventricular enlargement
.systolic murmur (no diastolic)
-Diagnosis :
.echo (best)
-Treatment :
.B-blocker or Ca+ channel blocker
+Digoxin + diuretics are contraindicated
**Dilated Cardiomyopathy
-Extensive left ventricular dilatation
+Decreased contraction of heart
-Signs & Symptosm :
.tachycardia
.decreased pulses
.increased JVP
.hepatomegaly
.lower limp edema
.associated with mitral or tricuspic insuffeciency
-Causes :
.idiopathic (M.C)
.infection
.hypothyroidism
.systemic diseases
.muscular dystrophies
**Myocarditis
-Inflammation of heart muscle
-Signs & Symptoms :
.left side heart failure
.arrhythmia
.sudden death
.can cause pericardial effusion and tamponade
-Causes :
.secondary to infection viral (M.C coxsackie B – adenovirus)
.idiopathic
.TB
.other infections
-Treatment :
.treat heart failure
.transplant
.IviG (Intravenous immunoglobulin)
**Pericarditis
-Signs & Symptoms :
.pericardial pain (M.C symptom)
.sharp stabbing pain (M.C symptom)
.aggravated by supine position
.relieved by sitting or leaning forward
-Causes :
46
.SLE
.rheumatic fever
.uremia
.RA
.leukemia or lymphoma
.post MI (dressler syndrome)
-Diagnosis :
.ECG (diffuse ST-elevation / low voltage QRS)
-Treatment :
.idiopathic or viral (NSAID)
+Systolic Murmur :
.aortic stenosis
.pulmonary stenosis
.mitral regurgitation
.tricuspid regurgitation
+Diastolic Murmur :
.aortic regurgitation
.pulmonary regurgitation
.mitral stenosis
.tricuspid stenosis
+Pancystolic Murmur :
.VSD
.mitral regurgitation
.tricuspid regurgitation
+VSD-ASD-PDA (increased pulmonary flow)
+Common Features Of Heart Failure In Infancy :
.Tachypnea and tachycardia (first signs)
.Gallop rhythm
.Enlarged palpable liver
.Heart rate over 150/min
.Respiratory rate over 40/min
.Poor weight gain
.Excessive perspiration
.Weak cry
.Hepatomegaly
.Feeding difficulties
.Failure to thrive
**GASTROENTERITIS
*Acute Diarrhea
-M.C.C of diarrhea in infant is ROTA VIRUS
+Causes Of Acute Diarrhea :
.Infant (gastroenteritis, systemic infection, antibiotic)
.Child (gastroenteritis, food poisoning, systemic infection)
.Adolescent (gastroenteritis, food poisoning, systemic infection)
+Causes Of Chronic Diarrhea :
.Infant (postinfectious lactase deficiency, milk/soy intolerance, chronic diarrhea of infancy, celiac disease, cyctic fibroses)
.Child (postinfectious lactase deficiency, IBS, celiac disease,lactose intolerance, giardiasis, laxative abuse)
.Adolescent (IBD, IBS, lactose intolerance, giardiasis, laxative abuse)
+Common Causes Of Acute Diarhhea :
.Bacterial-inflammatory (compylobacter, salmonella, shigella, yersinia, E.coli)
.Viral (rotavirus{M.C}, norovirus, adenovirus, astrovirus, calicivirus)
.Parasitic (giardia lamblia{M.C}, E.histolytica{ameba})
+Common Causes Of Bloody Diarrhea :
.Campylobacter jejuni
.Amoeba (E.histolytica)
.Shigella
.E.coli (enterohemorrhagic / enteroinvasive)
.Salmonella
+Common Causes Of Non-bloody Diarrhea :
.cholera (watery diarrhia)
.giardia
.E.coli (enterotoxigenic-travelers diarrhea / enteropathogenic)
48
+NOTES
.campylobacter jejuni (associated with guillain barre syndrome)
.enterohemorrhagic E. Coli 0157:H7 (associated with hemolytic uremic syndrome HUS)
.antidiarrheal compounds should never be used in children
+Organism-Specific Associaations :
.Rotavirus (watery diarrhea, vomiting + fever) (supportive)
.Enteropathogenic E.coli (nurseries, daycare) (supportive in severe cases, neomycin or colistin)
.Enterotoxigenic E.coli (traveler`s diarrhea) (supportive care trimethoprim-sulfamethoxazole in severe cases)
.Enterohemorrhagic E.coli (hemorrhagic colitis, HUS) (supportive care only, NO antimicrobial therapy)
.Salmonella (infected animals and contaminated eggs, milk, poultry) (treatment indicated only fot Pts. who are <3months)
.Shigella (person-to-person spread, contaminated food) (trimethoprim, sulfamethoxazole)
.Campylobacter (person-to-person spread, contaminated food) (self-limiting)
.Yersinia enterocolitica (pets, contaminated food, arthritis, rash) (no antibiotics therapy)
.Clostridium difficile (history of antibiotics use) (metronidazole or vancomycin)
.Staphylococcus aureus (food poisoning-onset within 12hrs of ingestion) (supportive care, antibiotics rarely indicated)
.Entamoeba histolytica (acute blood diarrhea) (metronidazole)
.Giardia (anorexia, nausea, abdominal distension, watery diarrhea, weight loss) (metronidazole, furazolidone)
.Cryptosporidium (mild diarrhea in immuno-compromised infants; severe diarrhea in AIDs Pts.) (raising CD4 count to normal is
best treatment. No proven therapy-antimicrobial, strong supportive care, may try rifabutin)
.salivation
.choking
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.coughing
.vomiting
.cyanosis coincident with the onset of feeding
+Esophageal atresia and the subsequent inability to swallow typically cause polyhydramnios in utero. Rarely it may present in
an adult
-Associations :
.dysphagia and thoracic problems
+Children with TEF can also be born with other abnormalities, most commonly those described in VACTERL association - a
group of anomalies which often occur together, including heart, kidney and limb deformities. 6% of babies with TEF also have a
laryngeal cleft
*Pyloric Stenosis
-Is narrowing (stenosis) of the opening from the stomach to the first part of the small intestine duodenum, due to enlargement
(hypertrophy) of the muscle surrounding this opening (the pylorus) / Hypertrophy of smooth muscle of pylorus
-Signs & Symptoms :
.first 2-4wks to months of life / Family history / More in first born males
.nonbilious projectile vomiting (recurrent vomiting can cause – hypokalemic, hypochloremic, metabolic alkalosis)
.weight loss
.dehydration
.constipation
.is commoner in 1st born infant
.on exam palpation of the abdomen may reveal a mass in the epigastrium (olive sign)
.peristaltic waves (from Lt. to Rt.)
-Diagnosis :
.ultrasound
-Treatment :
.surgical pyloromyotomy
*Doudenal Atresia
-Is the congenital absence or complete closure of a portion of the lumen of the duodenum / Complete obstruction or stenosis
of duodenum caused by an ischemic insult during development of failure of recanalization
-It causes increased levels of amniotic fluid during pregnancy (polyhydramnios) and intestinal obstruction in newborn babies
-During pregnancy, duodenal atresia is associated with increased amniotic fluid in the uterus, which is called polyhydramnios.
This increase in amniotic fluid is caused by the inability of the fetus to swallow the amniotic fluid and absorb it in their digestive
tract
-Anatomic Location :
.85% are distal to the ampulla of vater
51
.15% are proximal to the ampulla of cater (these present with nonbilious vomiting)
-Signs & Symptoms :
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.bilious vomiting (green vomit) – at 1st day (if distal to the ampulla)
.epigastric distention
.plain abdominal film revealing (double bubble)
-Complications :
.serious congenital anomalies.
+Late complications may occur in about 12% of patients with duodenal atresia, and the mortality rate for these complications is
6%
-20-40% of all infants with duodenal atresia have Down syndrome (trisomy 21) / 8% all infants with Down syndrome have
duodenal atresia
-Diagnosis :
.X-ray of the abdomen (double bubble sign)
-Treatment :
.suctioning out any fluid that is trapped in the stomach, providing fluids intravenously
.surgical repair of the intestinal closure
+Causes Of Non Bile Stained Vomiting :
.Feeding problem
.Gastro-esophageal reflux
.Pyloric stenosis
.Hidden infection (meningitis)
*Meckel Diverticulum
-A true congenital diverticulum, is a slight bulge in the small intestine present at birth and a vestigial remnant of the
omphalomesenteric duct (also called the vitelline duct or yolk stalk)
-More common in males – most in the first 2yrs of life, but can occur at any age
+Major differential diagnosis (appendicitis)
+M.C congenital GI anomalies / M.C malformation of the GI
+M.C symptoms is painless lower GI bleeding
-Signs & Symptoms :
.the majority of people with a Meckel's diverticulum are asymptomatic (An asymptomatic Meckel's diverticulum is called a
silent Meckel's diverticulum - If symptoms do occur, they typically appear before the age of two years)
.painless rectal bleeding such as melaena-like black offensive stools (M.C symptom)
.intestinal obstruction, volvulus and intussusception
.Meckel's diverticulitis may present with all the features of acute appendicitis (RLQ pain)
.severe pain in the epigastric region is experienced by the patient along with bloating in the epigastric and umbilical regions
.the symptoms are so painful that they may cause sleepless nights with acute pain felt in the foregut region, specifically in the
epigastric and umbilical regions
+In most cases, bleeding occurs without warning and stops spontaneously. The symptoms can be extremely painful, often
mistaken as just stomach pain resulting from not eating or constipation
-Possible Complications :
.intestinal hemorrhage (painless)
.intestinal obstruction (M.C complication in adults)
.inflammation (perforation)
+M.C ectopic tissue in a Meckel`s diverticulum (gastric mucosa)
-Diagnosis :
.technetium-99m (99mTc) pertechnetate scan, also called Meckel scan (this scan detects gastric mucosa)
52
-Treatment :
.surgical, potentially with a laparoscopic resection
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+In patients with bleeding, strangulation of bowel, bowel perforation or bowel obstruction, treatment involves surgical
resection of both the Meckel's diverticulum itself along with the adjacent bowel segment, and this procedure is called a "small
bowel resection"
+In patients without any of the aforementioned complications, treatment involves surgical resection of the Meckel's
diverticulum only, and this procedure is called a “simple diverticulectomy”
+Rule of 2's in Meckel's diverticulum :
.occur in 2% of the population
.are 2 inches (5cm) long
.are 2 feet (60cm) from the ileocecal valve
.2/3rds have ectopic mucosa
.2 types of ectopic tissue are commonly present (mostly gastric and pancreatic)
.2% become symptomatic
.symptoms start before 2 yrs of age
*Intussusception
-Is a medical condition in which a part of the intestine invaginates (folds into) into another section of intestine, similar to the
way the parts of a collapsible telescope retract into one another. This can often result in an obstruction. The part that prolapses
into the other is called the intussusceptum, and the part that receives it is called the intussuscepiens
-Telescoping of bowel inside each other / M > F
-Obstruction caused by bowel telesoping into the lumen of adjacent distal bowel
+M.C.C of small bowel obstruction in toddlers <2yrs old (Intussusceptoin)
-The Usual Age At Presentation :
.4-12 months of age (60%)
.by 2yrs of age (80%)
-M.C Site :
.terminal ileum involving ileocecal valve (M.C site is ileocecal)
.extending into ascending colon
-Signs & Symptoms :
.abdominal pain (intermittent moderate to severe cramping abdominal pain)
.nausea, vomiting (sometimes green in color from bile)
.pulling legs to the chest area / cry, draw their knees up to their chest
.Later signs include rectal bleeding, often with (red currant jelly) stool (stool mixed with blood and mucus), and lethargy
.physical examination may reveal a (sausage-shaped) mass (RLQ mass), felt upon palpating the abdomen / empty RLQ on
palpation (dance`s sign)
.dyspnea (difficult or painful breathing) with paroxysms of pain
.Fever is not a symptom of intussusception (intussusception can cause a loop of bowel to become necrotic, secondary to
ischemia due to compression to arterial blood supply. This leads to perforation and sepsis, which causes fever)
+Complication of Henoch-Schönlein purpura (HSP), an immune-mediated vasculitis disease in children
-Causes :
.hyperplasia of Peyer's patches (many Pts. have prior viral illness)
.infections (rotavirus, adenovirus) (M.C.C)
.anatomical factors
.altered motility, duplication
.Meckel's diverticulum
.polyp
.appendix
.idiopathic
+The causes of intussusception in older Pts. (Meckel's diverticulum, polyps, tumors)
-Differential Diagnosis :
.acute gastroenteritis (Abdominal pain, vomiting, and stool with mucus and blood are present in acute gastroenteritis, but
diarrhea is the leading symptom)
.rectal prolapse (Rectal prolapse can be differentiated by projecting mucosa that can be felt in continuity with the perianal skin,
whereas in intussusception the finger may pass indefinitely into the depth of sulcus)
-Diagnosis :
.ultrasound
53
.barium enema
-Treatment :
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.hydrostatic pressure
.surgery
+Other Causes Of Rectal Bleeding :
.anal fissure (M.C.C of lower GI bleeding in infancy)
.accidental swallowing of maternal blood (do Apt test)
.peptic ulcer disease
**CONSTIPATION
*Functional Constipation
-Delay or difficulty in stooling for at least 2 weeks; typically after age 2 years
-may have blood in stool; in physical examination (large volume of stool palpated in suprapubic area; rectal exam shows vault
filled with stool
-Treatment:
.relief of impaction (enema, stool softner - laxative)
.behavioral modification
*Hirschsprung Disease
-Also called congenital megacolon or congenital aganglionic megacolon, is a form of megacolon that occurs when part or all of
the large intestine or antecedent parts of the gastrointestinal tract have no ganglion cells and therefore cannot function
+M > F and 10% of cases are familial / M.C site is Rectum / M.C.C of bowel obstruction in neonate (0-28 days)
+Hirschsprung's disease is diagnosed shortly after birth, although it may develop well into adulthood, because of the presence
of megacolon, or because the baby fails to pass the first stool (meconium) within 48 hours of delivery / Some cases are
diagnosed later, into childhood, but usually before age 10
+It may be associated with an increased incidence of Down's syndrome
-Signs & Symptoms :
.green or brown vomit
.explosive stools after a doctor inserts a finger into the rectum
.swelling of the abdomen (meconium ileus)
.lots of gas and bloody diarrhea
.fecal retention, constipation or abdominal distention
+M.C.C of death in children with HD is (enterocolitis) / Complication (enterocolitis)
-Diagnosis :
.rectal biopsy (Best)
-Treatment :
.surgical removal (resection) of the abnormal section of the colon, followed by reanastomosis
+Cow's milk protein allergy may present in all of the following ways :
.An exacerbation of eczema
.Infantile colic
.Chronic wheezing in the first year of life
.Bloody colitis in infancy
+The M.C.C of minimal bleeding per rectum in children is fissure in anus
54
.pyelonephritis (M.C)
.scarring of kidney
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.nephropathy
.end stage renal disease (ESRD)
-Signs & Symptoms :
.most children with vesicoureteral reflux are asymptomatic
.hydronephrosis or hydroureter (abnormal widening of the ureter)
.increases risk of urinary tract infection or acute pyelonephritis
.fever
.lethargy
.poor appetite
.foul-smelling urine
.dysuria
.frequent urination
-Grading :
1.reflux to mid-ureter, NO dilation (common for anyone)
2.reflux to renal pelvis, NO dilation
3.mild dilation of the ureter, relnal pelvis
4.dilation of the renal pelvis with moderate ureteral tortuosity
5.gross dilation of the ureter, pelvis, ureteral tortuosity
-Indications for VCUG :
.one UTI (in male)
.2 UTI (in female)
.any febrile UTI
-Diagnosis :
.VCUG cystourethrogram (for diagnosis and grading)
.DMSA scan (for renal scarring and function)
-Treatment :
.amoxicillin or ampicillin (for infants younger than 6 weeks)
.trimethoprim-sulfamethoxazole (co-trimoxazole) (6 weeks - 2 months)
+After 2 months the following antibiotics are suitable :
.nitrofurantoin {5–7 mg/kg/24hrs}
.nalidixic acid
.bactrim
.trimethoprim
.cephalosporins
+Surgery (if medical therapy fails, if grade 5 reflux, if or any worsening on VCUG or renal scan)
**Obstructive Uropathy
-Is a structural or functional hindrance (or obstuction) of normal urine flow, sometimes leading to renal dysfunction
(obstructive nephropathy)
-Signs & Symptoms :
.hydronephrosis
.upper abdominal or flank pain
.pyelonephritis, UTI (recurrent)
.weak, decreased urinary stream
.failure to thrive
.diarrhea
.VUR
+Hydronephrosis (M.C.C of palpable abdominal mass in children)
-Causes :
.urolithiasis
.posterior urethral valves
.ureteral herniation
+Posterior urethral valves (M.C.C of severe obstructive uropathy in children; mostly in boys (Males > Females), can lead to end
stage renal disease ESRD, present with mild hydronephrosis to severe renal dysplasia, suspect in a male with a palpable,
distended bladder and weak urinary stream)
+Complications (Pulmonary hypoplasia)
-Diagnosis :
56
.catheterization
.U/S, CT-scan
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.VCUG
-Treatment :
.decompress with catheter
.antibiotics
.vesicostomy
.surgery (transurethral destruction)
**OTHER GLOMERULONEPHRITIDES
*IgA Nephropathy (Berger disease)
+M.C type of glomerulonephritis in adults worldwide / M.C.C of glomerulonephritis in world
-Signs & Symptoms :
.macroscopic haematuria (visibly bloody in urine)
.IgA deposits
.a urinalysis will show RBCs
.affects young males within (24-48hrs) after an upper respiratory tract or GI infections (M > F)
.can cause (HTN, renal failure)
.proteinuria usually less than 2gm/day
+Worse prognosis (HTN, male, proteinuria, renal failure) / >20% of adults develop end-stage renal disease (ESRD)
-Treatment :
.cortisone
.cyclophosphamide
57
**Henoch-Schonlein Purpura
-Small vessel vasculitis with good prognosis
-Can cause intussusception
-Signs & Symptoms :
.purpuric rash (more in gluteal region and lower abdomen)
.joint pain
.abdominal pain
.fever
.resolve spontaneously
-Treatment :
.NSAID
.steroids
.edema (swelling)
.nausea/vomiting
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+NOTES
+Children With Nephrotic Syndrome :
.Steroid resistance is associated with a poor prognosis (in children most cases respond to steroids)
.Patients should receive high protein, low fat diet
.Minimal lesion nephrosis is the most common type seen in children
.Low salt diet is important during relapse
.Gross albuminuria is a recognized feature
.Relapse is common
.Kidney biopsy (indicated)
.hyperkalemia is common
.proteinuria
.edema (start on face and around eyes, more in morning, and lower extramities)
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.hypoalbuminemia
.ascites
+Creatinin is normal
-Causes :
.drugs, especially NSAIDs in the elderly
.malignancy, especially Hodgkin's lymphoma
.allergy
.bee sting
-Treatment :
.steroid for 4-6 weeks
+Indication For Biopsy (NO routinly) :
.hematuria
.HTN
.NO response to steroid
*Testicular Tumors
-Is cancer that develops in the testicles, a part of the male reproductive system / M.C solid tumor of young adult men (20-40yrs)
+Not all lumps on the testicles are tumors, and not all tumors are malignant (cancerous)
-Tumor Markers :
.β-hCG
.alpha-fetoprotein (AFP)
.LDH
-Types :
.seminoma (M.C) (radiosensitive)
.choriocarcinoma (radioresistant)
.embryonal carcinoma (radioresistant)
.teratoma (radioresistant)
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*Varicocele
-Is an abnormal enlargement of the pampiniform venous plexus in the scrotum (dilated testicular vein - pampiniform plexus)
+The pampiniform plexus is a network of many small veins found in the human male spermatic cord. It is formed by the union
of multiple spermatic veins from the back of the testis and tributaries from the epididymis
+Varicocele is M.C.C of male infertility / Most Pt. who has varicocele are fertile
-Signs & Symptoms :
.visible or palpable (able to be felt) enlarged vein
.dragging-like or aching pain within scrotum
.feeling of heaviness in the testicle(s)
.atrophy (shrinking) of the testicle(s)
.alteration of testosterone levels
.benign prostatic hyperplasia (BPH) and related urinary problems
-Causes :
.idiopathic
+A majority of idiopathic varicoceles occur on the left side, because the left testicular vein travels superiorly and connects to
the left renal vein (at a 90-degree angle), while the right testicular vein drains directly into the inferior vena cava. Isolated right
sided varicoceles are rare (Lt. > Rt.)
.pelvic or abdominal malignancy
."Nutcracker syndrome" (non-malignant condition in which the superior mesenteric artery compresses the left renal vein,
causing increased pressures there to be transmitted retrograde into the left pampiniform plexus)
.lifestyle factors such as (activity type, bowel health, testicular temperature)
-Complications :
.affect spermatogenesis
.testicular atrophy
-Indication for surgery :
.pain
.infertility
.testicular atrophy
*Epidiymitis
-Ascending, retrograde urethral infection
-Main cause of acute painful scrotal swelling in a young, sexually active male
-Urinalysis shows PYURIA (can be N.gonorrhoeae {GC} or Chlamydia)
-Treatment:
.antibiotics
.bedreast
62
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+Testicular torsion +epididymo-orchitis
.sudden pain .gradual
.young (10-20yrs) .old age (sexually active)
.pain NOT relieved by elevation .pain relieved by elevation
.NO cremasteric reflex .present cremasteric reflex
.testis horizontal and high in scrotum .dysuria + UTI + fever
.treated by (surgery) .treated by (antibiotics)
**PITUITARY DISORDERS
*Hypopituitarism
-Deficiency of growth hormone + other hormones (delay in puberty)
-Causes:
.congenital (autosomal dominant, recessive, or X-linked recessive)
.acquired (any lesion that damages thy hypothalamus; M.C is craniopharyngioma)
+M.C is craniopharyngioma. Other (TB, sarcoidosis, trauma)
-Clinical Presentation :
1.Congenital hypopituitarism
.normal size and weight at birth; then severe growth failure in 1st year
.infants-present with neonatal emergencies; apnea, hypoglycemia seizures, hypothyroidism and adrenalism in 1st weeks or boys
with microphallus and small testes + cryptorchidism
2.Acquired hypopituitarism
.growth failure
.loss of weight
.mental retardation
.amenorrhea, hypoglycemia
.symptoms of both decreased thyroid and adrenal function
.headache, vomiting
.visual changes
.NO sexual maturation
.papilledema, cranial nerve palasies (if there is an expending tumor)
-Laps :
.screen for low serum insulin-like growth factor (IGF)-1 and IGF-binding protein-3 (IGF-BP3)
.best test is (growth hormone stimulation test)
.MRI is indicated in all patients with hypopituitarism (superior to CT scan)
.X-ray most helpful with destruction lesions (enlargement of sella, erosions)
.bone age (skeleteal maturation markedly delayed – BA 75% of CA)
-Differential Diagnosis (the major ones) :
.systemic conditions (weight is often proportionally much less than height)
.constitutional delay (delayed BA, delayed adolescent growth spurt, and pubertal development)
.familial short stature (BA=CA, short parents)
.emotional deprivation (psychosocial dwarfism)
-Treatment :
.weekly recombinant growth hormone
*Hyperpituitarism
-Rate (most are hormone-secreting adenomas)
+Majority are deficiencies of target organs and because of negative feedback, there are increase in hypothalamus and pituitary
hormones
-Laps :
.screen (IGF-1) and (IGF-BP3) for growth hormones excess; confirm with a glucose suppression test)
.need MRI of pituitary
.chromosomes especially in tall males (decreased upper-to lower-body segment ratio suggests XXY; mental retardation suggests
64
fragile X)
.thyroid test
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*Precocious Puberty
+Girls (sexual development < 8 years old)
+Boys (sexual development < 9 years old)
-Most Common Etiologist :
.non-familial (sporadic) and familial in girls
.hamartomas in boys
-Symptoms:
.advanced height, weight
.advanced bone age
.early epiphyseal closure
-Diagnosis :
.GnRH stimulation test; if positive then order MRI
+Causes Of Precocious Puberty :
.decreased production of cortisol
.increased ACTH
.adrenal hyperplasia
.shunting to androgen synthesis
.masculinizes external genitalia in females (internal organs normal)
**THYROID DISORDERS
*Hypothyroidism
1.Congenital hypothyroidism
.most are primary (from thyroid gland)
.may be with or without a goiter
.most common is thyroid dysgenesis (hypoplasia, aplasia, ectopia)
.defect in thyroid hormone synthesis (autosomal recessive)
.radioiodine exposure
.iodine deficiency or endemic goiter
.central hypopituitarism
.transplacental passage of thyrotropin
.exposure to maternal antithyroid drugs
-Clinical Presentation (cretinism) :
.prolonged jaundice
.large tongue
.umbilical hernia
.edema
.mental retardation
.wide fontanels
.hypotonia
.mouth open
.decreased appetite
.increased sleep
.apnea
.sluggish
.decreased reflex
.anemia (macrocytic anemia)
.apathetic appearance
65
.decreased temperature
.feeding difficulties
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.other findings (weight and length normal at birth, feeding difficulties, apnea, sluggish, decreased appetite, increased sleep,
constipation, decreased temperature, skin cold and mottled, preipheral anemia; apathetic appearance)
2.Acquired hypothyroidism
.hashimoto thryroiditis is M.C.C of acquired hypothyroidism
.may be part of autoimmune polyglandular syndrome
.typically presents in adolescence (11yrs)
.other causes (iatrogenic ‘irradiation, medication, surgery, radioiodine’; systemic disease ‘cystinosis, histocytic infiltration)
-Clinical Presentation :
.may more girls than boys
.first sign usually deceleration of growth
.myxedema, constipation, cold intolerance, decreased energy, increased sleep, delayed osseous maturation, delayed puberty,
headache, visual problems
.diffusely increased, firm, nontender thyroid; but may be atrophic so can be nongoitrous
-Laps (for 1-2) :
.low T3-T4
.increased TSH (best test )
-Treatment :
.sodium thyroxine
+Hashimoto thyroiditis is risk for malignant thyroid lymphoma
+Hashimoto's Thyroiditis :
.Most common cause of juvenile hypothyroidism
.The etiology is autoimmune
.Thyroid antiperoxidase antibodies are positive in 90%
.Lead to growth retardation
+Autoimmune Polyglandular Disease :
.TYPE 1
.Hypoparathyroidism
.Addison disease
.Mucocutaneous candidiasis
.Small number with autoimmune thyroiditis
.TYPE 2 (Schmidt Syndrome)
.Addison disease
.Insulin-dependent DM
.With or without thyroiditis
*Hyperthyroidism
-Excess synthesis and secretion of thyroid hormone by the thyroid / Excess production of TSH “rare” or abnormal thyroid
stimulators. Amiodarone can induce thyrotoxicosis
-Types :
.diffuse toxic goiter (Graves disease) (M.C.C)
.toxic multinodular goiter (Plummer disease) (occurs in 15-20% of Pts. with thyrotoxicosis. Occurs more commonly in elderly
individuals)
.toxic adenoma (is caused by a single hyperfunctioning follicular thyroid adenoma)
+The hypermetabolic effect of thyrotoxicosis affects every organ system
+All thyroid disease occur more frequently in women than in men (F > M)
-Signs & Symptoms :
.nervousness
.anxiety
.increased perspiration (sweating)
.tremor
.hyperactivity, hyperreflexia
.palpitations
.weight loss, increased appetite
.reduction in menstrual flow or oligomenorrhea (infertility)
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+Graves` Disease
-M.C.C of hyperthyroidism in Pt. under age 50yrs F > M / Decreased TSH – Increased T4-T3 / Diffusely enlarged thyroid
-Graves` disease or toxic diffuse goiter = hyperthyroidism + diffuse goiter + exophthalmos + dermopathy
+This is autoimmune disorder (antibody against TSH receptor) caused by stimulatory TSH-receptor antibodies
+It is associated with other autoimmune disease (pernicious anemia, myasthenia gravis, vitiligo, type 1 DM, addison`s disease,
adrenal insufficiency)
.ophthalmopathy
.gynaecomastia
.thyroid storm
-Diagnosis :
.TSH level
.it can be confirmed by iodine-123 uptake
-Treatment :
.antithyroid medications (methimazole, propylthiouracil) – have been used for hyperthyroidism
+Methimazole (the drug of choice for hyperthyroidism in the nonpregnant women) (not safe in pregnancy)
.therapy with radioactive iodine
.thyroidectomy
+Radioactive Iodine Therapy :
.is contraindication in children / pregnancy
+Thyroidectomy (is reserved for special circumstances) :
.severe hyperthyroidism in children
.pregnant women (who are non compliant or intolerant of antithyroid medication)
.Pts. with very large goiters or severe ophthalmopathy
.Pts. who refuse radioactive iodine therapy
+Adverse surgical effects (recurrent laryngeal nerve damage-branch from vagus, hypoparathyroidism-hypocalcemia 2-5 days
after surgery)
**PARATHYROID DISORDERS
*Hypoparathyroidism
-Is decreased function of the parathyroid glands with underproduction of parathyroid hormone. This can lead to low levels of
calcium in the blood. Often causing cramping and twitching of muscles or tetany (involuntary muscle contraction)
-Signs & Symptoms :
.low blood calcium level
.normal muscle contraction
.nerve conduction
.paresthesia
.fatigue
.headaches
.bone pain
.insomnia
.crampy abdominal pain
.hypocalcemia
.phenomenon known as Trousseau's sign of latent tetany
.seizures
.severe irregularities in the normal heart beat
.spasm of the upper part of the airways or the smaller airways known as the bronchi (both potentially causing respiratory
failure)
-Causes :
.after thyroid or parathyroid gland surgery (thyroidectomy)
.autoimmune invasion and destruction is the most common non-surgical cause. It can occur as part of autoimmune
polyendocrine syndromes
.hemochromatosis (can lead to iron accumulation-iron overload and dysfunction of a number of endocrine organs)
.absence or dysfunction of the parathyroid glands is one of the components of chromosome 22q11 microdeletion syndrome
(other names: DiGeorge syndrome, Shprintzen syndrome, velocardiofacial syndrome)
.magnesium deficiency
.DiGeorge syndrome, a disease in which hypoparathyroidism can occur due to a total absence of the parathyroid glands at birth.
Familial hypoparathyroidism occurs with other endocrine diseases, such as adrenal insufficiency, in a syndrome called
autoimmune polyglandular failure syndrome type 1 (APS-I)
.idiopathic (of unknown cause), occasionally familial (e.g. Barakat syndrome (HDR syndrome) a genetic development disorder
resulting in hypoparathyroidism, sensorineural deafness and renal disease)
-Diagnosis :
68
.by measurement of calcium, serum albumin (for correction) and PTH in blood
.ECG for abnormal heart rhythms, and measurement of blood magnesium levels
Page
-Laps :
.decreased calcium (5-7mg/dL)
.increased phosphorus (7-12mg/dL)
.normal or low alkaline phosphatase
.normal magnesium
.low parathyroid hormone
.low 1,25 {OH2}D3 (calcitriol)
.ECG (prolongation of Q-T)
-Treatment :
.IV 10% calcium gluconate and then 1,25 {OH2}D3 (calcitriol); this normalizes the calcium
.Vit D
*Hyperparathyroidism
-Is overactivity of the parathyroid glands resulting in excess production of parathyroid hormone (PTH). The parathyroid
hormone regulates calcium and phosphate levels and helps to maintain these levels
+Primary (M.C)
-Primary hyperparathyroidism results from a hyperfunction of the parathyroid glands themselves
-Over secretion of PTH due to :
.parathyroid adenoma
.parathyroid hyperplasia
.rarely, a parathyroid glands carcinoma
+Secondary
-Secondary hyperparathyroidism is due to physiological secretion of parathyroid hormone (PTH) by the parathyroid glands in
response to hypocalcemia (low or normal blood calcium levels). The M.C.C are Vit D deficiency and chronic kidney failure
+Vit D deficiency lead to absorption of Ca+2 from GI
+PTH (parathyroid hormones) lead to increased Ca+2 / Calcitonin (thyrocalcitonin – parafollicular cells) lead to decreased Ca+2
-Signs & Symptoms :
.weakness, fatigue
.depression
.bone pain
.muscle soreness (myalgias)
.decreased appetite
.vomiting, nausea
.constipation
.polyuria
.polydipsia
.cognitive impairment
.kidney stones, renal osteodystrophy
.osteoporosis, pathologic fractures, osteomalacia, rickets
.racquet nails (trachyonychia)
.Parathyroid adenomas (very rarely detectable on clinical examination)
+In Hyperparathyroidism
.In primary hyperparathyroidism, parathyroid hormone (PTH) levels will be either elevated or "inappropriately normal" in the
presence of elevated calcium
.In cases of primary hyperparathyroidism or tertiary hyperparathyroidism heightened PTH leads to increased serum calcium
(hypercalcemia)
.In primary hyperparathyroidism, serum phosphate levels are abnormally low as a result of decreased renal tubular phosphate
reabsorption
.Alkaline phosphatase levels are usually elevated in hyperparathyroidism
+Vitamin D Deficiency
-M.C.C of rickets
+Low serum phosphate, normal to low serum calcium lead to increased PTH and increased alkaline phosphatase
+Increased 25-hydroxy Vit D
69
*Cushing Syndrome
-Is a collection of signs and symptoms due to prolonged exposure to cortisol (group of clinical abnormalities caused by
prolonged exposure to increased amounts of cortisol or related corticosteroids)
-Signs & Symptoms :
.high blood pressure
.abdominal obesity but with thin arms and legs reddish stretch marks, a round red face, a fat lump between the shoulders
.weak muscles, weak bones (proximal myopathy)
.acne, and fragile skin that heals poorly
.changes in mood
.headaches
.chronic feeling of tiredness
.moon face
.excess sweating (dilation of capillaries)
.hirsutism
.insomnia
.impotence (in men)
.amenorrhoea, oligomenorrhea and infertility
.hypercortisolism (which feeds back into the hypothalamus resulting in decreased levels of GnRH release)
.hypokalemia
.hypertension
.hypocalcemia
.hypercholesterolemia
.osteoporosis
.psychiatric symptoms
.ecchymosis
.immune suppression
70
*Tall Stature
-Causes :
.familial tall stature
.infant of diabetic mother
.beckwith wiedemann syndrome
.excess growth hormone
.hyperthyroidism
.precocious puberty
.marfan syndrome
.kleinfilter syndrom (47XXY)
.fragile X-syndrome
*Short Stature
.Chronic renal disease
.Hypothyroidism
.Down's syndrome
.Low birth weight
.Emotional deprivation
.Turner's syndrome
.Gluten enteropathy
.Achondroplasia
.Familial
.Corticosteroid therapy
+Mental retardation may be caused by inherited errors of metabolism and can be treated by dietary measures :
.Phenylketonuria
.Hypothyroidism
.Galactosemia
.Tyrosinemia
.Maple syrup urine disease
.Emotional disturbances
.Birth trauma
.Meningitis
.Cerebral lipidoses
+The first sign of puberty in males is (Increase size of testicles)
+The first visible sign of puberty in girls is (The appearance of breast buds)
+Precocious puberty is diagnosed in female when secondary sexual characteristics appear before (8 yrs age)
+Caloric requirements by the beginning of the second week of life are (100 Kcal/kg)
+The daily requirement of vitamin D for the newborn is (400IU)
+The daily requirement of (50 mg of vitamin C / 110 calories per kg / 150 ml of water per kg)
+Circumcision is contraindicated in babies with (Hypospadia)
71
.Intestinal malabsorption
.Renal tubular disorders
.Chronic heart failure
+Craniotabes Could Be Seen In :
.Rickets
.Hydrocephaly
.Syphilis
.Premature baby
.Marasmus
.Thalassemia
+Clinical Signs Of Marasmus :
.Loss of turgor of skin
.Poor appetite
.Hypotonia
.Subnormal temperature
+Feature Of Kwashiorkor :
.Anorexia
.Liability to infection
.Moon face
.Loss of muscle tissue is present
.Hepatomegaly is due to fatty infiltration
.Pigmented skin is common
.Edema of limbs is usually present
.Failure to thrive and edema are presenting features
.Caused by low proteine diet
.Hypopigmentation of the hair is a feature
.Abdominal distension is a feature
+Enuresis :
.Most children achieve bladder control during day time and night by age 5 years
.Is more common in boys than in girls
.Spontaneous resolution can occur
.Conditioning devices is modality of treatment
+Characteristic of breath holding spells (attacks) :
.It can occur up to age of 4 or 5 years
.It is self-limited
.It does not occur in mentally retarded children
.Are easily confused with a generalized seizure
.May be precipitated by a minor injury
.The history is very important for the diagnosis (it sometimes runs in families)
.discoid rash
.serositis (libman-sacks endocarditis / non-infective endocarditis)
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**Kawsaki Disease
-Severe acute vasculitis of all blood vessels / M.C medium-sized arteries, especially coronary; 80% are under 5yrs
-Criteria (Diagnosis) :
.fever for > 5 days and not improved with ibuprofen (always present) + 4 of the following :
.intra-oral erythema (without exudate), strawberry tongue, dry and cracked lips
.erythema and swelling of hands and feet; desquamation of fingertips 1-3 weeks after onset
.bilateral conjunctivitis (without exudate)
.non-suppurative cervical lymphadenitis
.rash (NOT vesicular)
-Others :
.irritability, diarrhea, hepatitis, urethritis, arthritis, otitis media
.cardiac (early myocarditis – M.C complication/pericarditis, coronary artery aneurysms in the 2nd to 3rd week)
.aseptic meningitis
.hydrops of the gallbladder
-Laps :
.WBC-normal to increased;
.increased neutrophil
.increased ESR
.normocytic anemia of chromic disease
.platelets high / normal in 1st week, then significant increase in 2nd -3rd weeks (more than a million)
.increased hepatic transminases
.CSF pleocytosis
-Diagnosis :
.most important ECO; repeat at 2-3 weeks / if normal repeat it 6-8wks and ECG
-Treatment :
.intravenous immunoglobulin (IViG) and high-dose aspirin / warfarin / steroid (if fever)
.infleunza vaccines if in winter (risk of developing reye syndrome)
74
+Kawasaki disease is one of the few instences in pediatrics for wich you would use aspirin (it is usually avoided because of the
risk of developing reye syndrome) (Aspirin can cause Reye syndrome in children)
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+Any child suspected of having kawasaki disease should have an ECHO (the most serious sequelae of kawasaki disease are
cardiac-related)
75
**Hodgkin Lymphoma
-Most in 15-19 yrs olds
+Ebstein-Barr virus (EBV) may play a role (is risk); immunodeficiencies may predispose
+Reed-Sternberg Cell on Histology
-4 major histologic subtypes :
.lymphpcytic predominant
.nodular sclerosing
.mixed cellularity
.lymphocyte depleted-worst prognosis
-Signs & Symptoms :
.painless and firm cervical or supraclavicular lymph nodes (most common presenting sign)
.anterior mediastinal mass
.night sweats, fever, weight loss, lethargy, anorexia, pruritus
-Diagnosis :
.biobsy
-Treatment :
.chemotherapy
.radiation
**Non-Hodgkin Lymphoma
-Malignant proliferation of lymphocytes of T-cell, B-cell, or intermediate-cell origin
-Signs & Symptomos :
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.hematogenous spread
.CNS involvement
-Risk Factors :
.EBV_associated with Burkitt lymphoma
.immunodeficiency
-Diagnosis :
.biobsy
-Treatment :
.chemotherapy
.radiation
.surgical excision of abdominal tumors
**BRAIN TUMORS
-2nd M.C tumor in children; More common in children <7 yrs of age; High mortality
-Types :
1.infratentorial – M.C in children
2.supratentorial – M.C in adult
+CT scan best initial test for all
+MRI best test, best imaging
*Infratentorial Tumors
(M.C juvenile pilocytic astrocytoma) (classic site is cerebellum) (treatment: surgery, radiation, chemotherapy)
-Others :
+Malignant Astrocytoma GBM (glioblastoma multiforme-poor outcome)(M.C tumor in adult)
+Medulloblastoma (2nd M.C brain tumor in children; M>F; 5-7yrs)(site; midline cerebellar vermis) (treatment : radiation,
chemotherapy)
+Brain stem tumors
+Ependymoma (most posterior fossa)
*Supratentorial Tumors
-Types :
1.Craniopharyngioma
-M.C supratentorial tumors
-M.C.C od panhypopituitarism
-X-ray (calcification)
-Causes :
.panhypopituitarism
.growth failure
.visual loss
-Treatment :
.surgery
.radiation
.No role for chemotherapy
2.Optic nerve glioma
-M.C tumor of optic nerve, benign, slowly progressive
-Associated with neurofibromatosis type 1
-Symptoms :
.unilateral visual loss
.proptosis
.eye deviation
.optic atrophy
.strabismus
.nustagmus
-Treatment :
.chemotherapy (if chiasm is involved)
.radiation (if chiasm is involved)
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*Neuroblastoma
-M.C abdominal mass in children <1yr
-Site (abdomen, adrenal, retroperitoneal - cervical; thoracic; or pelvic ganglia)
-Symptoms:
.firm, palpable mass in flank or midline; painful with calcification and hemorrhage
.metastasis (long bones, skull, orbital, bone marrow, lymphnodes, liver, skin)
-Diagnosis :
.X-ray
.CT scan
.MRI (overall best)
.elevated urine (increased homovanillinc acid HVA) and (increased vanillylmandelic acid VMA)
-Treatment :
.surgery
.chemotherapy
.radiation
+Regarding Neuroblastoma :
.Elevated catecholamine level in urine is specific diagnostic feature
.Increased vanillylmindalic acid in most cases
.Final diagnosis depends upon the histological characteristic of tumor or biopsy
.Neuroblastoma is a tumor of young children
*Pheochromocytoma PCC
-Is a rare tumor of adrenal gland tissue (neuroendocrine tumor of the medulla of the adrenal glands)
+It results in the release of too much (secretes excessive amounts of) catecholamines, usually epinephrine-adrenaline and
norepinephrine-noradrenaline, hormones that control heart rate, metabolism, and blood pressure
+It usually develops in the center (medulla) of one or both adrenal glands and associated with paroxysmal hypertension
-Signs & Symptoms :
.abdominal-chest pain
.irritability, anxiety
.nervousness
.pallor
.palpitations
.rapid heart rate (tachycardia)
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.severe headache
.sweating (diaphoresis)
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.weight loss
.hand tremor
.high blood pressure (HTN)
.sleeping difficulty
.seizures
.visual disturbances
.nausea
.constipation
-Diagnosis :
.urinary metanephrine
.VMA (vanillylmandelic acid)
*Rhabdomyosarcoma RMS
-Is a type of cancer, specifically a sarcoma (cancer of connective tissues), in which the cancer cells are thought to arise from
skeletal muscle progenitors (Malignant tumor of skeletal muscle)
+The most frequently seen malignant urinary bladder tumor in children is (Rapdomyosarcoma botryoides)
**Bone Tumors
*Osteogenic Sarcoma (osteosarcoma)
-Most common bone malignant tumor in children <10yrs; age 10-20 yrs; M>F
+Most pediatric bone tumors are benign (Most commonly osteochondroma)
-Symptoms :
.bone pain
.swelling (M.C)
+The usual age at presentation (between 10 – 20yrs) (M > F)
+The most locations (Two-thirds in the distal femur, proximal tibia – around knee)
+M.C site of metastasis (Lung)
-Diagnosis :
.X-ray (sun brust appearance)
-Metastasis (lung M.C)
*Ewing Sarcoma
-2nd most common malignant bone tumor of children: age 10-20yrs; M>F
-Diagnosis:
.X-ray (onion-like skin)
-Treatment:
.radiation
.surgery
2.Meningocele
-Meninges herniate through defect in posterior vertebral arches
-Midline lumber mass converd with skin
-MRI should be done / immediate Surgery
+Choroid plexus tumor :
.increased CSF production
.cause hydrocephalus
3.Myelomeningocele
-M.C in lumbosacral lesion
-Low sacral lesion (causes; bladder and GI incontinence)
-Associated with hydrocephalus and chiari malformation
-Head CT-scan for possible hydrocephalus
-Treatment (ventriculoperitoneal shunt/V-P shunt surgery)
-Symptoms :
.falccid paralysis
.no reflexes
.no urinary control
.no bowel control
.no toch sensation
**Hydrocephalus
-Is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the brain
-Increased CSF amount in ventricle of brain (choroidal cell – produce CSF) (arachnoid villi – absorption for CSF)
-Types :
.obstructive (non-communication) (M.C type)
.non-obstructive (communication)
+Obstructive Hydrocephalus
.M.C type
.M.C.C is cerebral aqueduct stenosis
.Causes (cerebral aqueduct stenosis, TORCH infections, chiari malformation, dandy-walker syndrome)
+Non-obstructive
.subrachnoid hemorrhage
.meningitis
-Symptoms & Signs :
.head circumference
.bulging anterior fonatnel
.distended scalp veins
80
.broad forehead
.’setting sun’ sign
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**Chiari Malformation
-Is a condition affecting the brain. It consists of a downward displacement of the cerebellar tonsils through the foramen
magnum (the opening at the base of the skull), sometimes causing non-communicating hydrocephalus, as a result of
obstruction of cerebrospinal fluid (CSF) outflow
-Progressive hydrocephalus with myelomeningocele
-Abnormality of hindbrain (4th ventricle)
**Seizure
-Epilepsy (2 unprovoked seizures occur >24hrs apart)
*Febrile Seizures
-Common in children (6 months- 6yrs)
-Usually positive family history
-Tempreture increse rapidly >39c
-Usually generalised ‘Tonic-Clonic’ seizure (10-15min) with postictal period
-No increased risk of epilepsy
-May occur future with fever
-You should rule out meningitis
-No routine MRI and ECG
-The younger the age more risk for recurrence
-Treatment (control fever)
*Partial Seizures
1.Simple Partial Seizure
-Asynchronous tonic or clonic movements
-Most on the (face, neck, extremities)
-Avarage duration (10-20) seconds
-Some Pt. have an aura
-May speak or talk during attack
-No post-ictal period
-ECG (multiple focal spikes)
-Treatment (phenytoin, anticinvulsants ‘carbamazepine’)
2.Complex Partial Seizure
-Have an aura
-Loss of conciousness
-Automatisms common after loss of consciousness (lip-smaking, chewing, swallowing, increased salivation)
-M.C patholgy on temporal lobe (sclerosis, hemartoma, cyst, infarction, glioma)
-MRI many will show abnormalities in temporal lobe
-Pt. has post-ictal period
81
-Treatment (carbamazepine)
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*Generalized Seizures
1.Absence (patit mal)
-Sudden cessation of motor activity or speech with blank stare and flickering eyes (5-20sec)
-More in girks; uncommon <5yrs of age
-No aura
-ECG (3sec spike)
-Treatment (ethosuximide)
2.Tonic-Clonic Seizure
-Have aura
-Loss of conciousness
-Tonic rythomic controction of all muscles followed by relaxation
-Tongue biting,apnea,salivation and loss of bladder control
-Treatment (valproic acidmphenobarbital, phenytoin, carbamazepine)
*Myoclonic Seizures
-Repetitive seizures with brief,symmetric muscle contraction and loss of body tone with falling forward
-Treatment (valproic acid)
-Carbamazepaine is contraindicated in myoclonic seizure
*Neonatal Seizures
-Usually present within 12-24hrs after birth
**Sturge-Weber Syndrome
-Facial nerve (port wine stain) / Nerve is always present at birth (upper face or eyelid) / Glucoma in ipsilateral eye
-M.C symptom is seizure / associated with mental retardation
-Treatment :
.seizure control
.laser for nerve
**Tuberous Sclerosis
-Autosomal Dominant, half with new mutations
-The younger Pts., the higher the likelihood of mental retardation
-Associated with renal tumor
-Symptosm :
.ash-leaf macule (hypopigmented lesion on body)
.CT scan shows (calcified tubers) but may not see till 3-4yrs of age
.brain calcification (CNS tubers)
.seizures
.sebaceous adenoma (small red nodule on nose or cheeks)
.shahreen patch
-Diagnosis (clinical)
-Treatment (seizure control)
**Cerebral Pulsy
-Group of motor syndromes from disorders or early brain development
-M.C.C is intrapartum asphyxia
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-Types :
.spastic dysplasia (M.C)
.spastic quadriplegia
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.spastic herniplegia
.extrapyramidal
-Symtpoms :
.mainly motor symptoms with mild congnitive impairment
-Risk Factores :
.asphyxia
.low birth weight <1kg
.infection (congenital)
.intraventricular hemorrhage
-Treatment :
.physiotherapy
.muscle relaxant (dantrolene, baclofen, botulinum toxin)
+In kernicterus infants staining of the brain is more intense in the basal ganglion
+Patients with severe cerebral palsy usually die because of chest infections
+Clinical features of basal ganglia disorders :
.Chorea
.Athetosis
.Dystonia
.Hypertonia
+Methylphenidate (Ritalin) is a drug used in the treatment of Hyperkinetic behavior
**Muscular Dystrophies
-Duchene muscular dystrophies
-X linked recessive (defect in dystrophia)
-M.C neuromuscular diseaase or muscle fibers
-Is progressive degeneration and death of muscle fibers
-Symprotms :
.1st sign (poor head control in infancy)
.gowers sign (develop at 3-5yrs)
.hip-woddle gait and lordosis
.calf pseudo hypertrpopgy
.wasting of thigh muscle
.weel chair at 12yrs
-Risk Factors :
.respiratory infections
.scloliosis
.cardiomyopathy
.low IQ <70
.death around 18yrs (respiratory failure is the M.C.C)
-Diagnosis :
.genetic test (is the best)
.muscle biopsy
.CPK (is high 15000-35000)
-Treatment :
83
**Poliomyelitis
-Viral infection
-Feco-oral route of transmition
-Human is the only reservation
-Affect anterior horn of gray matter
-Causes asymetrical weakness and purely motor, sensation is normal
**Mental Retardation
-IQ <75
-Grades :
.mild mental retardation (IQ 50-75) (85-90% of cases)
.moderate (IQ 35-50)
.sever (IQ 20-35)
.profound (IQ 20)
-Causes :
.genetics (fragile X-syndrome ‘M.C.C’ – trisomy 21, 18, 13)
.in born errors of metabolism (phenyl ketonurea, trosynemia, galctocemia)
.neuro degenaration disorders (lipidosis, gangliosidosis, tuberous sclerosis)
+Aquired
.congenital infection (TORCH)
.asphyxia and hypoxia
.intracranial hemorrhage
.meningitis, encephalitis
.hypothyroidism
.poisoning (lead)
**Microcephaly
-Head circumference below 5th percentila
-Causes :
.primary (familial, syndrome ‘down, edward’)
.secondary (radiation, congenital infection - TORCH, meningitic and encephalitis)
**Craniosynostosis
-Premature closure of suture wich can cause samll head
-Treatment (surgery)
84
.paroxysmal phase (2-5 weeks) - severe coughing paroxysms, respiratory ‘whoop’, facial petechiae
.convalescent phase (>2weeks) - gradual resolution
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-Diagnosis :
.nasopharyngeal culture (BEST)
.CXR-usually normal
.CBC-leukocytosis with lymphocytosis
-Treatment :
.erythromycin for 14 days—macrolides (decreased infectious period of patient)
.prophylaxis to all familly members (Vaccination)
+Notes :
.May occur in both sexes
.May occur at any age
.Lesions located principally in bronchiand bronchioles
.The incubation period is 7-10 days
.There is typically marked lymphocytosis
.The paroxismal stage lasts four to six weeks
.Specific treatment in infancy includes erythromycin
*Lyme Disease
-Causes :
.Borrelia burgdorferi
-Presentation :
.early localized (erythema migrans / resolve spontaneously)
.early disseminated (cardiac – heart block, myocarditis / neurologic – aseptic meningitis)
.late presentation (after months – arthritis)
-Diagnosis :
.serology (Ab)
-Treatment :
.doxycycline, amoclan
.I.V penicillin
**TUBERCULOSIS
-M.tuberculosis
-Primary complex-affects the lung with local infection with hilar adenopathy
-Diagnosis :
.skin testing
.sputum
-Symptoms :
.primary TB usually asymptomatic in children; low grade fever, mild cough, malaise
.infants more likely to have signs and symptoms
.erosion into blood or lymph
-TB meningitis-most affects brainstem
.cranoal nerve 3, 5, 6 palsies and comminicating hydrocephalus
-Treatment :
.latent TB (INH*9 months)
.primary pulmonary disease (INH+rifampin*6 months)
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**VIRAL INFECTIONS
*Measles
-RNA paramyxovirus, very contagious
-Incubation (10-12)days,before prodrome appears {C`3) : (14-21 days-less than 2 weeks)
.cough
.coryza
.conjunctivitis then koplik spots
.koplil spots
.final; rash+fever (rash;macular-starts at head, and spreads downward)
-Complications :
.otitis media (Most common)
.pneumonia
.encephalitis
-Treatment :
.supportive
.vitamin A (if deficient)
+Notes :
.Prodromal signs such as fever and anorexia last 3 to 4 days
.Koplik’s spots are visible 2 to 3 days before the onset of rash
.The rash starts behind the ears and spreads to the forehead, face and down the body
.The incubation period is one to two weeks
.The peak of incidence is among infants
.Vaccine coverage is complete
.The vaccine is made of killed bacteria
.The cold chain is weak
.In measles the rash and accompanying illness reach a climax on about the (6th day)
*Mumps
-Viral infection due to Paramyxovirus transmitted through air-borne droplets ans respiratory/oral secreations
-M.C in winter/spring; incubation period from (14-24) days; contagious 2 day before and 3 days after swellin appears
-Symptoms :
.fever, malaise, headache
.unilateral or bilateral salivary gland swelling (glandular swelling)
.orchitis and oophoritis (rare before puberty)
-Complications :
.meningoencephalomyelitis (M.C)
.pancreatitis
.thyroiditis
.myocarditis
.deafness
.dacryoadenitis
-The percent of persons who develop inapparent infection by Myxovirus parotitis (mumps) is (35%)
*Influenza Viruses
-three types (etiology); A.B and C
-Sypmtoms :
.abrupt onset with coryza, conjunctivitis, pharyngitis and dry cough
.fever (2-4) days, myalgia, malaise, headache
-Diagnosis :
.ELISA
-Treatment :
.rest and fluid intake
.antiviral drugs
-Complications :
.otitis media
.pneumonia
.secondary bacterial infection
.myocarditis
*Diphtheria (DTP)
-Caused by gram+ (corynebacterium diphtheriae); this infection is rare nowadays (vaccination); diphtheria produce toxins
-Infection is rare nowadays because of vaccination
-Sypmtoms :
.incubation period (2-7)days
.upper respiratory symptom
88
.tonsils are coverd by white membrane, lead to hoarsness and inspiratory stridor
+Diphtheria produce toxins which can cause (myocarditis, neuritis in 10% of cases)
+Post-diphteric paralysis (bilateral-symmetrical paralysis motor, descending) (resolve completely within few weeks)
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-Treatment :
.antitoxin (IM)
.pencillin (IM)
*Tetanus (ATS)
-Caused by clostridium tetani
-mode of infection (contamination of wound; in new born from umbilical stump)
-Symptoms :
.incubation period (3-14) days
.trismus (lock-jaw / inability to open the mouth)
.fever
.rigidity (neck-back)
.respiratory arrest (M.C.C OF DEATH)
-Treatment :
.isolation and nursing in dark-quiet room
.anticonvulsant (diazepam)
.tetanus immunoglobulin or tetanus antitoxins
.large doses of pencillin
.O2 and vantilation
+Impetigo :
.Bacterial skin infection most common among pre-school children.[1] People who play close contact sports such as rugby,
American football and wrestling or boxing are also susceptible, regardless of age. Antibiotic creams or pills are often used as a
remedy.
.Is highly contagious
.Is usually caused by a staphylococcal infection
.In an infant may be complicated by generalized exfoliation
.It effects mainly the nostrils and perioral areas
-Etiology :
+Osteomyelitis
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**Osteogenesis Imperfecta
-Autosomal dominant
-M.C genetic cause of osteoporosis
-Defect in Type 1 collagen
-Symptoms :
.fragile bone
.blue sclera
.early deafness
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Hematology
-Physiological anemia of infancy (Drop in Hb 1st 2-3months, with average Hb 9-11)
-Pathophysiology anemia (decreased erythropoietin in newborn / More in preterm and NO need treatment)
+Erythropoietin (a hormone secreted by the kidneys that increases the rate of production of red blood cells in response to
falling levels of oxygen in the tissues)
*Lead poisoining
-Blood level up to 10mg/dL is acceptable
-Symptoms :
.behavioral changes (M.C is hyperactivity and aggression)
.development problems
.GI (anorexia, abdominal pain, vomiting, constipation)
.CNS (increased intracranial pressure, seizure, coma, death)
-Risk Factors :
.pre-schools
.low class
.old houses
.leaded gases and paint
-Diagnosis :
.blood lead level (BEST)
.X-ray of long bone (lead lines)
.blood film (microcytic hypochromic anemia with basophilic strippling)
-Treatment :
.chelating agent (EDTA/DMSA antidote)
**Congenital Anemia
*Diamon-Blackfan anemia
-Pure red cell anemia. Is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts
(anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which are
usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results
primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia
-This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in
91
neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia
+(low RBC / WBC and platelet ar normal / don`t cause pancytopenia)
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+Shwachman–Bodian–Diamond syndrome
.is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal
abnormalities, and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic
insufficiency in children
-Symptoms :
.congenital anomalies
.short stature
.triphalangeal thumb
.limb and facial dysmorphysim
-Labs :
.macrocytosis
.elevated adenosine deaminase levels in red blood cells
.low reticulocyte (immature red blood cells) counts
.diminished erythroid precursors in bone marrow (decreased Bone marrow production)
.elevated serum Iron
-Treatment :
.corticosteroids and deferoxamine
.splenectomy
.stem cell transplant (BEST)
**Megaloplastic Anemia
-Due to folic acid or Vit B12 deficieny
-Hypersegmented neutrophils, low serum folate, low VitB12 or both, macrocytosis
-Treatment :
.oral folic acid
+Women with folate deficiency who become pregnant are more likely to give birth to low birth weight premature infants, and
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**Hemolytic Anemia
-Is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), either in the blood vessels
(intravascular hemolysis) or elsewhere in the human body (extravascular)
-Hereditary (inherited) hemolytic anemia can be due to :
.defects of red blood cell membrane production (as in hereditary spherocytosis and hereditary elliptocytosis)
.defects in hemoglobin production (as in thalassemia, sickle-cell disease and congenital dyserythropoietic anemia)
.defective red cell metabolism (as in glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency)
-Symptoms :
.shortness of breath
.jaundice (increased excretion of bilirubin into the biliary tract)
.increased the risk of particular long-term complications, such as (gallstones and pulmonary hypertension)
.pallor, fatigue, shortness of breath and potential for heart failure
.failure to thrive
-Treatment :
.supportive folic acid
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.blood transfusion
.NO splenectomy
+G6PD (don`t cause splenomegaly)
**Hemoglobin Disorders
*Sickle-cell disease
-Autosomal recessive / Mutation of B-globin gene / More in black african, protect from malaria
-Newborn (NO symptoms) / Symptoms start 2-4months / 1st symptoms is Hand-Foot syndrome (acute dactylitis)
+Hand-Foot syndrome (also called palmar-plantar erythrodysesthesia, is a side effect of some types of chemotherapy. Hand-
foot syndrome causes redness, swelling, and pain on the palms of the hands and/or the soles of the feet)
-Symptoms :
.skin ulcer
.retinopathy
.avascular necrosis of femur
.autosplenectomy (infection by uncapsulated bacteria – give vaccine pneumococcus)
.priapism
.strock
.aplastic crises with paravovirus B19
-Complications :
.increased risk of gallstones (pigmented)
.renal failure
.salmonella osteomyelitis
-Labs :
.elevated reticulocyte
.normal MCV
.ESR almost zero
-Diagnosis :
.Hb electrophoresis/Hbss (BEST)
-Treatment :
.vaccination (pneumococcus)
.penicillin prophylaxis
.folic acid
.pain control
.blood transfusion
.hydroxyurea
.bone marrow transplant (BEST)
*Thalassemia
-Both alpha and beta thalassemias are often inherited in an autosomal recessive manner
+Alpha-thalassemia
.alpha thalassemia (deletion of 2 genes)
.mild hypochromic, microcytic anemia without clinical problems
.often diagnosed as iron deficiency anemia; need molecular analysis for diagnosis
.alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes (2 genes)
.it is also connected to the deletion of the 16p chromosome
.HgH H disease (deletion of 3 genes – Hgb Barts)
.typically do not require transfusions or splenocetomy
.alpha thalassemia majot (deletion of 4 genes – severe fettal anemia resulting in hydrops fetalis)
+Beta-thalassemia
.mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin.
Beta-globin is a component (subunit) of hemoglobin
.beta thalassemia (β thalassemia) is a form of thalassemia caused by mutations in the HBB gene on chromosome 11, inherited
in an autosomal recessive fashion
.excess alpha globin chains (increase in HbF) (no problem with gamma-chain production)
94
.presents in 2nd month of life with progressive anemia, hypersplenism and cardiac decompensation (Hb <4mg/dL)
.expanded medullary space with increased expansion of face and skull (hair-on-end); extramedullary hematopoiesis,
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hepatosplenomegaly
-Labs :
.infants born with HbF only (seen on Hgb electrophorosis)
.severe anemia, low reticulocytes, increased nucleated RBCs, hyperbilirubinemia microcytosis
.no normal cells seen on smear
.bone marrow hyperplasia; iron accumulates lead to increased serum ferritin and transferrin saturation
-Treatment :
.transfusion
.deferoxamine
.may need splenectomy
.bone marrow transplant curative
**Bleeding Disorder
-Minor bleeds (vWD)
-Deep bleeds (hemophilia)
-Thtombocytopenia is the M.C acquired cause of bleeding in children
*Vitamin K deficiency
-Newborn routinly given IM Vit K
-Risk Factors :
.lack of oral intake
.malabsorption (chronic pancreatitis, obstructive jaundice)
.alteration in gut flora (long-term antibiotic use)
+Vit K is fat soluble so deficiency associated with a decreased in factors (II, VII, IX, X)1972 (proteins C and S)
+Increased PT and PTT with normal platelet count and bleeding time
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**Platelet Disorders
*Immune (idiopathic) Thrombocytopenic Purpura (ITP)
-Autoantibodies against platelet surface
+M.C indication for splenectomy
-Symptoms :
.most in 1-4yrs of age – Usually after a nonspecific viral infection
.sudden onset of petechiae and purpura with or without mucous membrane bleeding (most resolve within 6 months / <1% with
intracranial hemorrhage / 10-20% develop chronic ITP)
+With ITP, the physical examination is otherwise normal; hepatosplenomegaly and lymphadenopathy should suggest another
disease
-Labs :
.platelet <20.000/mm3
.platelet size normal to increased
.bone marrow (normal to increased megakaryocytes)
.other cell lines normal
-Treatment :
.transfusion contraindicated unless life-threatening bleeding (platelet antibodies will bind to transfused platelets as well)
.NO specific treatment if platelets >20.000 an no ongoing bleeding
.if very low platelets, ongoing bleeding that is difficult to stop or life-threatening
.intravenous immunoglobulin for 1-2 days
.splenectomy reserved for older child with severe disease
*Orbital Cellulitis
-Infection of orbital tissue
-Physical Exam :
.ophthalmoplegia (can`t move his eye)
.chemosis (swelling)
.inflammation
.fever + leukocytosis
.wound or sinusitis by encapsulated bacteria
-Diagnosis :
.orbital CT-scan with contrast (BEST)
-Treatment :
.I.V antibiotics
*Retinoblastoma
-M.C primary malignant tumor of eye (intra-ocular)
-Symptoms :
.rarely discovered at birth
.1-2yrs appear as white mass (leukocoria) (M.C symptom)
.strabismus (2nd M.C symptom)
-Diagnosis :
.CT-scan (NOT biopsy)
-Treatment :
.enucleation + chemo-radiotherapy
*Choanal atresia
-Unilateral (mey be asymptomatic and 50% associated with other anomalies – CHARGE) or Bilateral (cyanosis and become pink
with crying)
-Diagnosis :
.inability to pass catheter (3-4cm into nasopharynx)
.rhinoscopy
-Treatment :
.surgery
*Nasal Polyp
-Benign tumor of nasal mucosa
+M.C.C is cystic fibrosis
+May have (aspirin sensitivity – asthma)
+Aspirin is contraindication
-Can casue nasal obstruction
-Treatment :
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.steroid
.surgery
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+M.C.C of abdominal mass in neonate (hydronephrosis) / in children <1yr neuroblastoma / in children >1yr wilms tumor
+M.C tumor in children (ALL)
+2nd M.C tumor in children (Brain tumor)
+M.C brain tumor in children (Benign astrocytoma)
+2nd M.C tumor in children in children (Medulloblastoma)
+M.C brain tumor in adult (malignant astrocytoma GBM)
+M.C 3rd ventricle tumor (ependymoma)
+M.C Bone tumor in children (osteosarcoma)
+M.C Bone tumor in adult (Multiple myeloma)
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