high yeild topics in pediatrics .. - rokinusmle

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hi .. can any body tell me wat is the high yeild topics in pediatrics .. ???

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œPediatrics
--)Vesicoureteric reflex is the retrograde flow of urine from the bladder to the ureter n renal pelvis. Normally the ureter is attached to the bladder in oblique fashion, leading to a flap-valve mech. that prevent reflex. Reflex occurs when submucosal portion of ureter b/w the mucosa n detrusor muscle is short or absent, it is congenital n seen in1% of children”Reflex is a risk factor of recurrent UTI(results in renal scarring n major cause of ESRD n HTN in children) as it facilitate the transport of bacteria from bladder to the upper UT. Reflex is present in 35-40% of children with UTI(MCC) Dx is made by VCUG (voiding Cystouretherogram)----Ureteral duplication can lead to VUR n Ac UTI, but most of the VUR r congenital, run in families”due to anomalous intravesical portion of ureter

--)IVH(Intraventricular Hemorrhage), results from bleeding in the germinal matrix, occurs MC in Premature n low birth wt(LBWI) infants. Other predisposing factors r Hypoxia, ischemia or hypotensive injury, reperfusion of damaged vessles, inc venous pressure n inc or dec cerebral flow.”It is subdivided into 4 grades acc to the severity of the bleeding. Sx include pallor, cyanosis, Hypotension, seizures, focal neurogical signs, bulging or tense fontanel, apnea n bradycardia. However many cases r asymptomatic, thus mandating transfrontal u/s for all NB with predisposing factors.

--)Arthrocentesis n empiric Tx with IV nafcillin r the most appropriate measures for the Mx of suspected Septic Arthriis. SA can occure following skin or URTI., c/f r painful joint(knee), fever, chills, o/e swollen n erythematous joint with dec range of motion. Inc WBC, Inc ESR, x-ray N

common cause of hemolytic anemia in NB,--)Hereditary Spherocytosis present with anemia n inc bilirubin suff severe to require phototherapy or exchange transfusion, prevalent in people of Northern European descent, Inc retic count. Confirm by +ve Osmotic fragility test------Autoimmune Hemolytic Anemia is due to warm antibodies directed against RBCs, can present as Ac n transient type lasting 3-6m in children aged 2-12yrs, preceded by an inf, usually RTI.Considerable spherocytosis n polychromasia +ve . Coomb™s test +ve confirm the Dx

--)Ac Post streptococcal GN, MC form of GN in children, occurs after pharyngitis or pyoderma. Pt r hypertensive n edematous. 1- Complement Levels (C3 n CH50) r low at the onset of ds should resolve in 8-12wks, 2-Hematuria is microscopic n persist for 6m (persistent hematuria is s/o IgA nephropathy), 3”Proteinuria resolve slowly, upto 15% of pt persist for 3yrs, 4”Renel Fxn returns to normal in 1-2 wks, 5”ASO Titre, tends to rise after 7days,peak after 1m and return to normal in 3-4m

--)HUS, sudden onset of abd pain, bldy diarrhea, and a triad of anemia,thrombocytopenia and renel failure. Caused by a toxin released by E-Coli

--)Subarachnoid hemorrhage, char. by Ac onset of (migraine like)headache, vomiting, altered mental status, seizures n nuchal rigidity. MCC in children is AVM(atriovenous malformation) with rupture into subarachnoid space. Dx by CT scan.

--)In pt with Sicle cell Ds(SCD), acute severe anemia with absent reticulocytes in peripheral bld is due to aplastic crisis, ass with Parvovirus B19 inf and folat def, usually req bld trasnfusion. --Severe anemia with reticulocytosis is due to splenic sequestration, char. by vaso-occlusion withpooling of RBCs in spleen, occurs in those pt whove not yet developed auto-splenectomy. Pt may develop severe hypotensive shock ass with 10-15% mortality n has 50% chance of recurrence, splenectomy is usually recommended after the 1st episode.”Ac Chest Syndrome, MC complication of SCD, charc by chest pain, fever, and a new infilterate on chest x-ray

--)Autism, any pt 6/yr), a cytotoxic agent that inc Hb F by stimulating erythropoiesis. HbF retard sickling, thus reducing vaso-occlusion

--)Galactosemia(due to galactose-1-phophate uridyle trnsferse def) should be considered in a NB or young infant who has failure to thrive, bilateral cataract, jaundice and hypoglycemia. Early Dx n Tx by elimination of galactose from the diet r mandatory. Pt are at inc risk of E coli N/N sepsis

--)Always suspect pyloric stenosis in a neonate who present with non-billous, projectile n persistent vomiting, (a mass due to hypertrophied pylorus may not b palpable), order U/S abd to establish dx

--)Increased gastric residues in a preterm neonate is highly suspicious of Necrotizing Enterocolitis, present at 3-10days after birth, due to bowl wall injury resulting from perinatal asphyxia. Tx depends on the degree of bowl involvement n severity.”The preterm baby is also at high risk of other comp. i-e Hayline Memb Ds, present with resp. distress n a ground glass appearance on chest x-ray.

--)Osteogenic Imperfecta is caused by mutation in type 1 collegen, charc by blue sclera n recurrent fractures.

--)Turner™s syndrome, usually cahrc by 45XO karyotype, however, variation in karyotype i-e 46XY also seen n ass with a higher incidence of Gonadoblastoma, ----hence prophylactic bilateral gonadectomy is indicated.

--)Meconium Aspiration Syndrome, MC in low birth wt n post-mature infants, charc by resp distress at birth, rales n rhonchi on auscultation, hyperinflation, coarse streaking n patchy opacities on chest x-ray.(The greenish color of the amniotic fluid indicates the presence of meconium)

--)Early N/N care in an uncomplicated preg. Include initial physical assessment, removal of airway secretions, drying the infant n keeping warm, n early preventive measures (gonoccal ophthalmia prevention, n vit K supplementation).

--)Strep Pneumonia(30%) is the MCC of Ac Bacterial Sinusitis in childhood, followed by H. Inf (20%) n Morexalla Catarrhalis(20%)

--)GERD in infants charc by regurgitation after feed, failure to thrive n Sandifer™s Syndrome(child assume a position with his head tilted to left side n his back arched) is the mech by which the child protect the airway n reacts to the pain of the acid reflux. The 24 hrs esophageal PH monitoring is the Gold standard for the Dx of GERD.

--)Duodenal atresia(bilious vomiting) is the MC GI anomaly in Down™s syndrome (double bubble sign) pt. ass with annular pancrease. Hirschsprung™s ds (no passage of stool after birth) also occurs with inc freq in pt with Down™s Syndrome.

--)Migraine Headache, no investigation needed unless neurological exam is abnormal and/or fever is +ve. Migraine is a clinical Dx n Tx is done initially with acetaminophen or NSAID.

--)Todd™s Paralysis represent a postictal condition that usually rapidly improves with restoration of motor function within 24hrs.

--)N/N sepsis suspected when a baby develops jaundice after the 3rd day n within the 1st wk, esp if he is feeding poorly n lethargic, work-up with blood c/s n LP is the next step.

--) DOC for nocturnal enuresis is DDAVP. Bed wetting is considered normal until the age of 4-5yrs. But if it persist either DDAVP or imipramine is used.

--)Medulloblastoma is the 2nd MC infratentorial (post fossa) tumor in children n arises from the Cerebellar Vermis.(1st one is Cerebellar Astrocytoma).it is highly radiosensitive n can metastasize thru CSF. Post Vermis Syndrome (Truncal Dystaxia) charc by unbalanced gait, horizontal nystagmus, papilledema.

--)Aseptic(Viral) Meningitis charc. By lymphocytic/monocytic predominance (generally total WBC 1yr, in pt 18yrs old.

--)Congenital cataract is the MC cause of Leukocoria (not retinoblastoma). Causes of cataract include familial, congenital infections, metabolic conditions(e.g DM, Galactosemia), genetic disorders (e.g Down™s syndrome, Turner™s syndrome), n long term/high dose steroid use

--)Transient synovitis of the hip char by an inflammation n swelling of the tissue around the hip joint, cause is unknown may be due to virus or sec to an allergic reaction to an infection somewhere else in the body. Bed rest with affected joint in the position of comfort is the TOC, Pt usually gets better in 3-4 days.

--)Trachoma, caused by Chlamydia trachomatis is the MCC of blindness in the world. Dx presence of lymphoid follicles on the conjunctiva, scarring n limbal follicles. Tx erythromycin or tetracycline.

--)Esophageal atresia presents with chocking, regurgitation n coughing ass with the 1st feeding of the NB infant. The inability to pass a feeding tube into the stomach s/o n U/S confirm the diagnosis.

--)Meckel™s diverticulum presents with painless melena in 2-3 yrs old children, present in 2-3% of population n MC anomaly of the GIT. Heterotropic gastric tissue may be present in the diverticulum, results in ulceration n bleeding.

--)Osgood-Schlatter disease (age 10-17yrs), presents with knee pain at the tibial tuberosity (at the site of insertion of the quadriceps tendon)

--)N/N tetnus, seen in infants born to immunized mothers, frequently following umbilical stump infection, n is char by poor suckling and fatigue, followed by rigidity, spasm n opisthotonus in 1st 2wks of life

--)Chronic Granulomatous dz”caused by a defect of phagocytes cells with dysfunction of the NADPH oxidase enzyme complex, leading to recurrent and uncontrolled infections with catalase-positive organism. MC clinical findings are lymphadenopathy, hypergammaglobulinemia, hepatomegaly, splenomegaly, anemia of ch dz, under wt, ch diarrhea, short stature, gingivitis n dermatitis. Dx by Nitroblue tetrazolium (NBT) slide test, flow cytometry or cytochrome C reduction. Tx “-Trimethoprim-sulfamethoxazole/day and gamma-interferon 3times/wk, BM transplantation is experimental but curative.

--)WAS(Wiskott-aldrich syndrome)caused by defective gene encoding for WAS protein, presents with eczema, microcytic thrombocytopenia n recurrent infection with encapsulated germs in young boy, present at birth n consist of petechiae, bruises, bleeding from circumcision or bldy stools. Dx by low IgM, and high IgA n IgE n moderately dec Tcell n platelets.

--)Chediak-Higashi syndrome char by dec degranulation, chemotaxis n granulopoisis, multisystem dz char by mild coagulopathy, peripheral n cranial neuropathy, hepatosplenomegaly, pancytopenia, partial oculocutaneous albinism, freq bacterial infections(S aureus), n progressive lymphoproliferative syndrome. Dx neutropenia n giant lysosomes in neutrophil. Tx trimethoprim-sulphamethaxazole n Ascorbic acid/ daily

--)Hyper-IgE(job™s) syndrome char by ch pruiritic dermatitis, recurrent staph inf(skin, resp tract n joints), markedly elevated IgE, eosinophilia n coarse facial features, dental abnormality n bone # r diagnostic.

--)Whooping cough caused by Bordetella pertussis, highly contagious infection, presents with severe bouts of coughing rectal prolapse, epistaxis n pneumothoraces, may last from 2-10wks.spells can Tx is erythromycin for 14days, regardless of the age or the immunization status, n regardless of the stage of the dz, Prevention”all close contacts should be given erythromycin for 14 days, regardless of age, immunization, or Sx.

--)The introsseous technique is an excellent site for IV access in children

--)Systemic form of Juvenile RA(Still™s dz), char by fever, fleeting maculaopapular rashes, hepatosplenomegaly, lymphadenopathy, pleuropericarditis n myocarditis. RF rarely +ve. Tx NSAID therapy with monitoring of Liver enzyme. In refractory cases steroids r used.

--)Absence seizure is a generalized seizure of childhood n is char by sudden n brief lapses of conciousness without loss of postural control n absent postictal confusion, usually present with multiple œdaydreaming

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episodes n decline in school performance.

--)Postexposure prophylaxis for chicken pox is provided with VZIG (varicella Zoster mmune Globulin) or Acyclovir. VZIC is preferred n indicated in susceptible high risk pt exposed to varicella within 96hrs (preferably 72hrs) of exposure.

--)Pubertal gynecomastia, seen in ~1/2 of adolescent boys, at an average age of 14yrs, often asymmetric or transiently unilateral, frequently tender, regresses within 6-18m n just need observation”HY”

--)Tuberous sclerosis, presents with infantile spasm, often during 1st yr of life with cluster of brief symmetrical contraction of the neck, trunk n extremeties with unique pattern on EEG c/a Hypsarrhthmia (chaotic, high voltage, bilateral, asynchronous, slow wave activity), hypopigmented lesions(ASH leaf spots) n cortical tubers on CT head r charcterstics. Tx for infantile spasm is ACTH i/m.

--)Klumpke™s paralysis is a brachial palsy that occurs in NB following excessive traction on the arm, consists of hand paralysis n ipsilateral Horner™s syndrome (ptosis n miosis), is sec to injury to 7th n 8th cervical nerves n 1st thoracic nerve

--)Hyaline membrane dz(HMD), occurs in premature infants 60-80%

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PEDIATRICS:
1. 21-hydroxylase deficiency is the most common form of CAH. It presents with virilism(ambiguous genitalia at birth), salt wasting, and increased 17-alpha-hydroxyprogesterone levels. Diagnosis is suggested by increased levels of 17-alpha-hydroxyprogesterone and confirmed with ACTH stimulation test.
*11-alpha-hydroxylase deficiency, which results in androgen and mineralocorticoid excess

2. Cephalohematoma is a subperiostal hemorrhage. presents few hours after birth limited to the surface of one cranial bone.

*Caput succedaneum is a diffuse, sometimes ecchymotic, swelling of the scalp. across the midline and across suture line
3. Craniopharyngiomas derived from epithelial remnants of Rathke™s pouch. cause bi-temporal hemianopia by pressing optic chiasma. There may also give signs and symptoms of Diabetes Insipidus. X-ray: calcified lesion above the sella
4. Arthrocentesis and empiric treatment with IV nafcillin are the most appropriate measures for the management of suspected septic arthritis in a child.

5. Always consider antibiotic prophylaxis and vaccination against Pneumococci and H. influenza in patients with splenectomy or functional asplenia. The most common cause of bacteremia or sepsis in sickle cell disease is Pneumococcus.

6. Diffuse thickening of glomerular basement membrane and subepithelial spikes are characteristic for membranous glomerulonephritis

7. Minimal change disease Light microscopy and immunofluorescence does not usually reveal any change in kidney architecture. Electron microscopy shows
diffuse effacement of foot processes of podocytes.

8. Iron supplementation in the form of iron-fortified milk formula or medicinal iron, should be started at 6 weeks in all premature and low birth weight babies


9. Marfan™s features + mental retardation + thromboembolic events + downward dislocation of the lens = Homocystinuria. It is an autosomal recessive disease caused by cystathionine synthase deficiency. Treatment mainly involves administration of high doses of Vit B6. Restriction of methionine along with supplementation of cysteine is used for patients not responsive to Vitamin B6 therapy.

10. Krabbe's is a sphingolipidosis due to a deficiency in beta-galactosidase. total absence of myelin. Clinical features include mental retardation, blindness, deafness, paralysis, peripheral motor sensory neuropathy and seizures.
*Fabry's disease is also a sphingolipidosis --deficiency of alpha-galactosidase. Classic clinical features include angiokeratomas, peripheral neuropathy, and asymptomatic corneal dystrophy. They may also develop kidney and heart failure, and thromboembolic events

11. Clubfoot is initially managed with stretching and manipulation of the foot, followed by serial plaster casts, malleable splints, or taping. Surgical treatment is indicated if conservative management gives unsatisfactory results, and is preferably performed between 3 and 6 months.

12. Beckwith-Wiedemann syndrome macrosomia, macroglossia, visceromegaly and omphalocele, hypoglycemia and hyperinsulinemia, microcephaly, prominent eyes, prominent occiput, ear creases and hyperplasia of the pancreas. increased risk of neoplasms such as Wilms1 tumor, hepatoblastoma, and gonadoblastoma.

13. The common congenital problems in an infant of diabetic mother are:
1. Caudal regression syndrome.
2. Transposition of great vessels.
3. Duodenal atresia and small left colon.
4. Anencephaly and neural tube defects.

15. WAGR syndrome consists of Wilms™ tumor, Aniridia, genitourinary anomaly and mental retardation. deletion in chromosome 11.
# Denys-Drash syndrome pseudohermaphrodism and early onset renalmale failure characterized by mesangial sclerosis with increased risk of Wilms™ tumor

16.deficiency of glucose-6-phosphatase- Von-Gierkes. Hypoglycemia caused by failure to release glucose from the liver into the circulation.
#Galactosemia

17. The first step in the management of an infant with suspected congenital diaphragmatic hernia is the placement of an orogastric tube.

# Mongolian spot and18.a flat, well-demarcated, gray-pigmented lesion over the sacral area. usually disappear by the first few years of life.

19. Salmon patch is a flat salmon-colored lesion commonly seen over glabellas, eyelids, and neck. It is a flat vascular lesion and usually disappears in early childhood.

20. A leukocoria is a retinoblastoma until proven otherwise. Diagnosis is made by clinical findings in the presence of calcifications on US or CT scan. a highly malignant tumor, if untreated, leads almost invariably to death because of liver and brain metastases. It results from inactivation of the Rb suppressor gene

21. Metanephros is at the origin of Wilms™ tumor

22. Neuroblastoma is the third most common cancer in the pediatric population (after leukemia and CNS tumors). It arises from neural crest cells which secondarily populate sympathetic ganglia and adrenal medulla.

23. Spondylolisthesis is a developmental disorder characterized by a forward slip of vertebrae (usually L5 over S1) that usually manifests in preadolescent children. In the typical clinical scenario, back pain, neurologic dysfunction (urinary incontinence), and a palpable "step-off" at the lumbosacral area present if the disease is severe.

24. DiGeorge syndrome results from microdeletion of 22q11

25.strabismus -- most common cause of amblyopia. Tx: Continuous covering of the normal eye
26. Presence of inflamed tympanic membrane and diminished movement of the membrane with insufflation are the hallmarks of otitis media.

27. Group B streptococcus is the most common cause of neonatal sepsis. It is part of the normal vaginal flora of women and is transmitted to infants during their passage through the birth canal. Escherichia coli”2nd, Listeria is the third

28. Myotonic muscular dystrophy”AD, Patients are usually normal at birth. Muscle abnormalities begin in childhood and continue slowly into adulthood and include weakness and progressive muscle wasting, especially in the distal muscles of the hands, posterior forearm muscles, and anterior compartment of the lower legs. Myotonia-- represents as delayed relaxation of the affected muscles after contraction. inability to release the handshake.
-associated with multiple endocrinopathies (testicular atrophy, diabetes mellitus, frontal baldness, and hypothyroidism), immunologic deficiencies, cataract, neurologic abnormalities, intellectual impairment and dysmorphic facies.

29. Pyloric stenosis is a surgical condition. surgery should be undertaken only after the infant has been resuscitated and electrolytes replaced.

30. ARDS-- Hyaline membrane disease, x-ray: fine reticular granularity of the lung parenchyma, treatment :mechanical ventilation and surfactant.

31. ASD is the only congenital heart disorder, does not develop endocarditis.

32. Urinalysis is a fundamental test that should be performed in all urologic patients.

33. Hand-foot syndrome, or dactylitis, occurs in children ages 6 months to 2 years. It is the earliest manifestation of vaso-occlusion in sickle cell anemia. Hence, a workup for sickle cell anemia should be done in these patients. Dactylitis presents with the acute onset of pain and swelling, symmetrically involving the hands and feet.


34. Granulosa cell tumors produce excessive amounts of estrogen, and can present with precocious puberty in younger children and postmenopausal bleeding in elderly patients.

35. Childhood disintegrative disorder is a rare pervasive developmental disorder, which occurs more commonly in males. It is characterized by a period of normal development for at least two years. This is followed by a loss of previously acquired skills in at least two of the following areas: expressive or receptive language, social skills, bowel or bladder control, play and motor skills.

36. Oppositional defiant disorder is a childhood behavioral disorder. -- defiant and hostile behavior. disobedient, easily annoyed, spiteful and argumentative, deliberately annoy others, and often blame others for their mistakes.

37. Asperger disorder is characterized by a qualitative impairment in social interaction and restricted, repetitive and stereotyped patterns of behavior. have normal cognitive and language development (*diffentiating point from autism)
38 Voiding after intercourse has been shown to decrease the risk of UTI in sexually-active females.

39. The incidence of vertical transmission of HIV can be reduced from 25% to 8% by administrating ZDV to pregnant women and their offspring. ZDV is administered orally during pregnancy after the first trimester, intravenously during labor and delivery, and orally to the neonate for the first 6 weeks of life.

40.Retinal hemorrhage is considered to be an extremely ominous sign of preeclampsia

41.Precocious puberty, # McCune-Albright syndrome spots and multiple bonePigmentationcafe au lait defects (Polyostotic fibrous dysplasia”fractures). (3P™s)Associated with other endocrine disorders, such as hyperthyroidism, prolactin or GH-secreting pituitary adenomas and adrenal hypercortisolism. Caused by defect in the G-protein cAMP-kinase
42. Peutz-Jeghers syndrome is characterized by gastrointestinal tract polyposis and mucocutaneous pigmentation. It may also involve an estrogen-secreting tumor, leading to precocious puberty.

43. Sturge-Weber-- mental retardation, seizures, visual impairment and a characteristic port-wine stain over the territory of the trigeminal nerve, may also be hemianopia, hemiparesis, hemisensory disturbance, and ipsilateral glaucoma. Skull X-rays, reveal gyriform intracranial calcifications that resemble a tramline. Treatment is aimed at controlling seizures and reducing intraocular pressure. Argon laser therapy is successful in removing the skin lesions.

43. Language development:
Social smile: 2 months
Babbles: 6 months
2 words, obeys 1-step command: 1 year
2-3 word phrases, obeys 2-step command: 2 years
Gross motor development:
Holds head: 3 months
Rolls back to front and front to back: 4 months
Sits well unsupported: 6 months
Walks alone: 12 months
Walks up and down stairs without help: 24 months
Fine motor development:
Raking grasp: 6 months
Throws object: 12 months
Builds tower of 2 blocks: 15 months
Builds tower of 6 blocks/turn pages of books: 2 years
Builds tower of 9 blocks: 3 years
Social development:
Recognizes parents: 2 months
Recognizes strangers (stranger anxiety): 6 months
Imitates action/comes when called: 12 months
Plays with other children: 18 months
Parallel play: 24 months

44.Klumpke paralysis”Klumpke™s paralysis is a brachial palsy that occurs in newborns following excessive traction on the arm. It consists of hand paralysis and ipsilateral Horner™s syndrome (ptosis and miosis), and is secondary to injury to seventh and eighth cervical nerves and first thoracic nerve.
45. Erb-Duchenne palsy -- brachial intact grasppalsy, fifth and sixth cervical nerves. absent Moro reflex and reflex of the affected arm. with a characteristic position adduction and internal rotation of the arm with pronation of the forearm.

46. Children with a parental history of elevated total cholesterol levels (>240 mg/dL), or risk factors for coronary artery disease should get a screening test for total cholesterol level.

47. Midgut volvulus usually presents in a child less than one month with bilious vomiting, abdominal distension and bloodstained stools.

48.Meningitis may be complicated by regression of developmental milestones.

49.Increased gastric residues in a preterm neonate is highly suspicious for necrotizing enterocolitis.

50.Pinealoma develops in the dorsal aspect of the midbrain. Symptoms consist of endocrine syndrome, intracranial hypertension, Parinaud's sign (paralysis of vertical gaze), and Collier's sign (retraction of the eyelid).

51. Craniopharyngiomas arise in the sella turcica, and symptoms usually include visual field defects and endocrine syndrome. It is characterized by a cystic structure with presence of calcifications

52.In the pediatric population, infratentorial tumors are more common than supratentonal tumors, and benign astrocytomas are the most common histologic type in both group.

53. Vitamin A reduce morbidity and mortality of measles


54. Immnunoprophylaxis with VZIG may not prevent infection, but does effectively reduce disease severity. Postexposure prophylaxis for chicken pox is provided with VZIG (Varicella Zoster Immune globulin) or acyclovir. Postexposure prophylaxis with VZIG is preferred and indicated in susceptible high-risk persons exposed to varicella within 96 hours (preferably 72 hours) of exposure.

55.Thyroid dysgenesis is the most common cause of congenital hypothyroidism in United States.

56.Iodine deficiency or endemic goiter is the most common cause of congenital hypothyroidism worldwide but essentially not seen in the United States.

57. In a young child of 2-5 years age with a localized abdominal mass and hematuria, one has to think of Wilms tumor, does not cross the midline, associated with Beckwith-Wiedemann and Denys-Drash syndromes. If the child age is less than 1 year think of neuroblastoma-- usually crosses the midline and diagnosis is made by urinary metabolites of catecholamine.

58. Diagnosis of anemia of prematurity:
1. Peripheral smear shows normocytic and normochromic anemia. No other abnormal forms are seen.
2. The reticulocyte count is low, and red blood cell precursors in the bone marrow are decreased.
3. Normal WBC and platelet counts.
4. Normal total bilirubin level.
Treatment:
The treatment involves iron supplementation, periodic hemoglobin checking and blood transfusion if needed. Erythropoietin is not routinely used.

# erythema toxicum skin59.eosinophils in the lesions
Milia are small pearly white cysts

60. Transposition of great vessels is the most common cyanotic heart disease which presents with cyanosis in the first 24 hours of life. It is commonly seen in infants of diabetic mothers and in males w tachypnea, subcostal retractions, a normal S1, single and loud S2, and no murmur. 61.Maintaining the patency of the ductus arteriosus is important for survival. Surgical treatment is definitive.

62. A simple-partial seizure causes either motor, sensory, autonomic or psychic symptoms without alteration in consciousness.

63.Complex-partial seizures present with an aura, and subsequently with behavioral arrest accompanied by involuntary automatism; there is a postictal confusion or aphasia.

64.The 24-hour esophageal pH monitoring is the gold standard for the diagnosis of gastroesophageal reflux
65. posturing of Sandifer™s syndrome -- during disease. Infant w this disease vomiting episodes, the child assumes athe position with his head tilted to the left side and his back arched

66.Tricuspid atresia is a cyanotic congenital heart disease characterized clinically by cyanosis that appears early in life and left axis deviation. Most cases (90%) are associated with ventricular septal defect, and 30% are associated with transpositioned great arteries. Both tetralogy of Fallot and tricuspid atresia have normal heart size and decreased vascular marking on chest x-ray. However, in tetralogy of Fallot, EKG demonstrates right atrium dilation and right ventricle hypertrophy.

# Ebstein™s anomaly67.extreme cardiomegaly with marked right atrial enlargement.

68. an upper respiratory tract infection and later develops a rash after exposure to amoxicillinampicillin or infectious mononucleosis caused by Epstein-Barr virus

69.** Aseptic necrosis of the femoral head is a common complication of sickle cell disease. It involves occlusion of end arteries supplying the femoral head, bone necrosis, and eventually collapse of the periarticular bone and cartilage. non-traumatic causes of avascular necrosis of the femoral head include chronic corticosteroid therapy, SLE, alcoholism, and Gaucher's disease .
70. Surgery used for primary coarctation. Recoarctation can present years later with upper extremity hypertension and diminished lower extremity pulses. treatment is balloon angioplasty.

71.hemophilia--factor VIII assay is diagnostic. Prolonged PTT, normal prothrombin time, normal bleeding time, normal fibrinogen level and low serum factor VIII activity .The standard treatment for hemophilia is to replace the factor VIII. mild hemophilia may be treated with desmopressin (DDAVP), which causes release of factor VIII from the endothelial cells.

72. Parainfluenza virus is the most common agent responsible for croup in children. Staphylococcus aureus and anaerobes are common causes of chronic sinusitis

73.Streptococcus pneumonia is the most common cause of acute sinusitis in childhood, followed by Haemophilus influenzae and Moraxella catarrhalis. Same as otittis media

74. Attention deficit hyperactivity disorder--short attention span, impulsivity, and hyperactive, excessive talking for more than 6 months & than one setting (school and home).

75. Oppositional defiant disorder usually presents in adolescence with negativistic, hostile, and defiant behavior towards adults. Arguments, temper outbursts, and deliberate annoyance

76. Conduct disorder-- aggression, property destruction, theft, and deceitfulness (less than 18yrs,) after this age diagnosis of antisocial personality disorder is made.


77.Silver nitrate is administered to all neonates at birth to prevent Gonococcal conjunctivitis. It may cause mild conjunctival irritation and tearing that resolve generally within 24 hours. Gonococcal conjunctivitis is the most destructive to the eye; it presents as a hyperacute and highly purulent conjunctivitis that appears 2 to 5 days after birth and may result in corneal perforation and permanent loss of vision if left untreated. Tx: ceftriaxone.

78. Neonatal chlamydial conjunctivitis is treated with systemic erythromycin because of the risk of pneumonia.

79.Moderate to severe degree of slipped capital femoral epiphysis requires surgery. failure of the growth plate between the femoral neck and femoral head, resulting in displacement. limitation on internal rotation, range of external rotation is normal.
SCFE has three degrees of severity:
Mild - approximately 30% of the femoral head slips off of the metaphysis.
Moderate - approximately 30-60% of the femoral head slips off of the metaphysis
Severe - more than 60% of the femoral head slips off of the metaphysic
Mild SCFE may be treated conservatively by regular use of crutches to keep weight off the affected hip.

80.** cyanosis, aggravated by feeding and relieved by crying choanal atresia. Diagnosis is made by the failure to pass a catheter through the nose 3-4 cm into the oropharynx. CT scan with intranasal contrast, which shows a narrowing at the level of the pterygoid plate. The first step in management consists of placing an oral airway and lavage feeding. Definitive treatment consists of repairing the obstruction with surgery or endoscopy

81. Edwards' syndrome--closed fists with the index finger overlapping the 3rd digit and the 5th digit overlapping the 4th, narrow hips with limited abduction, short sternum, rocker-bottom feet, microcephaly, prominent occiput, micrognathia, cardiac and renal malformations
# Trisomy 13, or Patau's syndrome, presents with cleft lip, flexed fingers with Polydactyly, ocular hypotelorism, bulbous nose, low-set malformed ears, small abnormal skull, cerebral malformation, microphthalmia, cardiac malformations, scalp defects, hypoplastic or absent ribs, visceral and genital anomalies.
Remember if >1 yr + genetical syndrome= it is not edward/ trisomy

82.Epiglottitis is seen in children 3-7 years of age. They appear very toxic, have stridor and high-grade fever, and will often be droolingTx: Endotracheal intubation with a set up for tracheostomy
83.Nebulized Racemic epinephrine and oral dexamethasone are the management options for Croup

84.The infantile form of botulism is different from the adult form:
the Clostridium botulinum gains entry Infant the food, especially inthrough
honey and produces the toxin in the intestinal tract
the toxin ingested produces the Adultsymptoms

85.Werdnig Hoffmann's Degeneration of the anterior horn diseaseand cranial nerve motor nuclei

86.Gaucher™s disease-- deficient activity of the lysosomal enzyme acid beta-glucosidase, bone pain, pathological fractures. Erlenmeyer flask deformity of the distal femur, and characteristic Gaucher cells with their wrinkled paper appearance in bone marrow

87.Niemann-picks-- deficient sphingomyelinase. failure to thrive, hepatosplenomegaly, and a rapidly progressive neurodegenerative, cherry red macula, protruding abdomen, lymphadenopathy, and regression of developmental milestones.

88. GM1 gangliosidosis results from the deficient beta-galactosidase-- hepatosplenomegaly along with skeletal abnormalities including anterior beaking of the vertebrae, enlargement of the sella turcica, and thickening of the calvarium.

# GM2 gangliosidoses include Tay-Sachs and Sandhoff's -- deficiency of
Hexosaminidase, cherry-red spot in retina and neurologic symptoms

89.** The growth of axillary hair results from androgen secretion by the adrenal glands (adrenarche). Premature adrenarche, or the isolated appearance of axillary hair before the age of six years, is generally benign and has no clinical significance.


90. Positive anti-Smith antibodies and/or anti-double stranded DNA antibodies is specific and confirmatory for the diagnosis of systemic lupus erythematosus.

91.Kartagener™s syndrome -- situs inversus, recurrent sinusitis, and bronchiectasis. on x-ray--dextrocardia (the apex of the heart is in the right chest). Autosomal recessive, aberrant production or attachment of dynein arms-- in impaired cilial function

92.Acute severe exacerbation in patients with cystic fibrosis caused by **pseudomonas aeruginosa, S. aureus, and H.
Gram-positive rods D Listeria, Bacillus
Gram-negative rods D Pseudomonas, Hemophilus, Klebsiella, Legionella
# Gram-positive rods D Listeria, Bacillus
Gram-negative rods D Pseudomonas, Hemophilus, Klebsiella, Legionella
The common organisms cause pneumonia in cystic fibrosis are: Hemophilus.
Pseudomonas. Staphylococcus.

93.Asperger syndrome-- language development is normal.

94.Kawasaki disease or mucocutaneous lymph node syndrome is one of the most common causes of generalized vasculitis in children. echocardiography performed within 7 days of the disease onset, then repeated 6 to 8 weeks later.
Tx: hospitalized with intravenous immune globulin (IVIG) and high-dose aspirin. Aspirin is useful for fever and arthritis. IVIG has been shown to reduce the incidence of coronary artery aneurysms and other complications. Influenza vaccination is recommended in patients with Kawasaki's disease taking life long aspirin therapy

95. Bedwetting is a normal phenomenon until the age of 5.

96. Trachoma, caused by Chlamydia trachomatis is the most common cause of blindness in the world. The diagnosis made by lymphoid follicles on the conjunctiva, scarring and limbal follicles.
97.Pyloric stenosis presents with non-bilious vomiting in a 4 to 8-week-old child, and abdominal ultrasound confirms the diagnosis.

98.Clavicular fracture-- Generally, no specific treatment is required. Rarely, immobilization may be required using a figure-of-eight strap

99.Milk protein intolerance may present with vomiting and bloody diarrhea. Stools may show RBCs and eosinophils

100.Galactosemia-- Galactose-1-phosphate uridyl transferase deficiency: jaundice, hepatomegaly, vomiting, hypoglycemia, convulsions, poor weight gain, aminoaciduria, cataract, hepatic cirrhosis, or mental retardation. increased risk for Escherichia coli neonatal sepsis.
** Remember, failure to thrive, bilateral cataract, jaundice and hypoglycemia for galactosemia.

101. Iron poisoning --Tx Deferoxamine, an iron chelator, is used IV in moderate to severe intoxications

102. Gastroschisis is diagnosed at birth by protrusion of bright red intestines to the right side of the umbilicus. There is no covering of the intestines and umbilicus is normal. It is a surgical emergency.

103. Topical mupirocin or oral erythromycin is the treatment of choice for local impetigo. Impetigo is a superficial skin infection with multiple vesiculopustules on the exposed areas of face and extremities, which rupture giving a thick adherent crust with characteristic golden yellow appearance

104. Surgery is advised in umbilical hernia if the hernia persists to the age of 3-4 years, exceeds 2 cm in diameter, causes symptoms, becomes strangulated, or if it enlarges progressively after the age of 1 to 2 years.

# An omphalocele is a herniation or protrusion of abdominal contents into the base of the umbilical cord, the sac is covered with peritoneum without overlying skin. Immediate surgical repair

105.Acute post streptococcal glomerulonephritis-- C3 and CH50 levels are low resolve in 8 to 12 weeks. Hematuria may persist for up to 6 months. renal function returns to normal in 1 - 2 weeks

106.Meckel's diverticulum usually presents at 2 years of age with painless rectal bleeding.

107.Intussusception, the most common cause of intestinal obstruction in the first two years of life, presents with intestinal obstruction and red currant jelly stools containing blood and mucus. sausage-like mass palpable

108.Obesity is a risk factor for uterine cancer, type 2 diabetes later in life

109.Laryngomalacia or congenital flaccid larynx is the most common cause of chronic inspiratory noise in infants, laryngoscopy-- finding of an epiglottis rolling in from side to side is diagnostic, virtually all infants the symptoms disappear by two years of age. Need hold the child in an upright position for half an hour after feeding, and to never feed the child when he is lying down.

110. Septic joint is a true surgical emergency in pediatric orthopedics and needs immediate surgical drainage as delay of even 4-6 hours can lead to avascular necrosis of the femoral head, Intravenous antibiotics are required with surgical drainage
111.Displaced anterior fat pad is a radiographic sign of supracondylar fracture, which may be complicated by Volkmann™s ischemic contracture.

112. Hyper-IgM syndrome (HIM) is characterized by high levels of IgM with deficiency of IgG, IgA and poor specific antibody responses to immunizations. HIM presents with recurrent sinopulmonary infections and Pneumocystis carinii pneumonia.

113. X-linked agammaglobulinemia (XLA) is characterized by four findings:
1 . recurrent bacterial infections in the first 5 years of life,
2.Serum IgG, IgM and IgA values at least 2 SD (standard deviation) below the normal for age(low GAM),
3.Absent isohemagglutinins or poor response to vaccines,
4.Less than 2% CD19+ B cells in the peripheral circulation.

#Common variable immunodeficiency (CVID) is a heterogeneous syndrome, presenting with low IgG levels, IgM and IgA levels. The serum immunoglobulins and antibody deficiencies in CVID may be as profound as in XLA but with normal numbers of circulating immunoglobulin-bearing B-lymphocytes

# Wiskott-Aldrich syndrome-- eczema, thrombocytopenia, and recurrent infections with encapsulated germs in a young boy. low IgM,
high IgA and IgE

114.Fetal alcohol syndrome is characterized by midfacial abnormalities (short palpebral fissures, epicanthal folds, long philtrum, thin upper lip), cardiac defects (atrial or ventricular septal defect, persistence of arterial canal), multiple joint anomalies, prematurity, growth retardation and MOST COMMON CAUSE OF
mental retardation.(REMEMBER DOWN™S SYNDROME IS SECOND M/Co cause of Mental retardation)

115. lithium”Ebstein™s anomaly

116. Self-mutilation in the presence of dystonia is characteristic of Lesch-Nyhan syndrome. It is an X-linked recessive disorder-- deficiency in hypoxanthine-guanine phosphoribosyl transferase (HRPT), neurologic features including mental retardation, dystonia, choreoathetosis and spasticity. Gout is usually seen in patients of above 50 years of age. If you see a boy with gout, suspect this.

116.Friedreich ataxia-- autosomal recessive, an excessive number of trinucleotide repeat sequences, resulting in an abnormality of a tocopherol transfer protein. gait ataxia, frequent falling, and dysarthria. Neurological manifestations result from degeneration of spinal tracts (spinocerebellar tracts, posterior columns, pyramidal tract). also associated with necrosis and degeneration of cardiac muscle fibers leading to myocarditis, myocardial fibrosis and hypertrophic cardiomyopathy, diabetes, and skeletal deformities, like scoliosis and hammer toes. The most common causes of deaths are cardiomyopathy and respiratory complications
Remember the combination of neurologic (ataxia, dysarthria), skeletal (scoliosis, feet deformities) and cardiac (concentric hypertrophic cardiomyopathy) manifestations of the disease.

# Zellweger's syndrome is a disorder due to a defect in peroxisomes. Features of diagnostic importance are the typical facial appearances of high forehead, up-slanting palpebral fissures, hypoplastic supraorbital ridges, epicanthal folds, and redundant skin fold of the neck. Severe weakness and hypotonia, neonatal seizures, wide-open sutures and eye abnormalities such as a cloudy cornea, cataract, or glaucoma are also frequently found in the neonatal period. Infants with Zellweger's syndrome rarely live more than a few months.

117.Turner's syndrome with 46 XY ( usually 45XO )karyotype is associated with a higher incidence of gonadoblastoma, and hence, prophylactic bilateral gonadectomy is indicated.

118.Neonatal adrenoleukodystrophy-- Enlarged liver and impaired liver function, pigmentary degeneration of the retina, severely impaired hearing X-linked ALD is a genetically determined disorder associated with the accumulation of saturated very long chain fatty acids and a progressive dysfunction of the adrenal cortex and nervous system white matter. Symptoms are generally first noted between the ages of 4 and 8 years. The most common initial manifestations are hyperactivity, disturbances of vision, ataxia, poor handwriting, seizures, and strabismus

119.Refsum disease-- gait abnormalities, sensorineural hearing loss, and pigmentary degeneration of the retina(impaired vision)

120.treatment of Bordetella pertussis infection is erythromycin for 14 days.

121. A positive Coombs' test points towards autoimmune hemolytic anemia, and a
* positive osmotic fragility test points towards hereditary spherocytosis.

122.Maternal HIV infection is an absolute contraindication to breast-feeding.

123.Hydroxyurea is indicated in patients with frequent, acute, painful episodes, as it tends to increase Hb F levels.




126.Reye's syndrome “ After treated with salicylates for a viral infection, vomiting, agitation, and irrational behavior, progressing to lethargy, stupor, restlessness, and
convulsions. Lab findings include hyperammonemia, normal or slightly elevated bilirubin and alkaline phosphatase, prolonged prothrombin time, hypoglycemia, and moderate to severe elevations in AST, ALT, and lactate dehydrogenase. Tissue histopathology demonstrates microvesicular steatosis of the liver, kidneys, and brain. Treatment for Reye's syndrome is supportive.
*Carnitine deficiency also presents like reye™s syndrome but instead Acyl carnitine level is high

127.Glucose-6-phosphatase deficiency-- Von-Gierkes: hepatomegaly w hypoglycemic seizures, fat cheeks, relatively thin extremities, short stature, and a protuberant abdomen. kidneys enlarged, whereas the spleen and heart are normal. The hallmarks of the disease are hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia.

#Pompes1 disease -- deficiency acid maltase. floppy baby, macroglossia,
Hepatomegaly, hypertrophic cardiomyopathy

# Type III glycogen storage disease -- deficiency of glycogen debranching enzyme. hepatomegaly, hypoglycemia, hyperlipidemia growth retardation. Splenomegaly may be present, but kidneys are not enlarged. elevation of liver transaminases level and fasting ketosis are prominent, but blood lactate and uric acid concentrations are usually normal.

# Deficiency of branching enzyme -- type IV glycogen storage disease or amylopectinosis.
# Infection by respiratory syncytial virus may increase the risk of asthma in later life.



128.** The adverse reactions to the DTaP vaccine are usually attributed to the pertussis component of the vaccine. So Administer the diphtheria and tetanus toxoids, avoid the pertussis component. If An immediate anaphylactic reaction, an encephalopathy, or any CNS complication within 7 days of administration of the vaccine is a contraindication for further administration of DTaP

129.** Mammary gland enlargement and non-purulent vaginal discharge are common findings in newborn infants. They represent benign and transitory events that are explained by target-organ

[ArchivalUser]

http://www.usmleforum.com/showthread.php?tid=238877

PEDIATRICS:
1. 21-hydroxylase deficiency is the most common form of CAH. It presents with virilism(ambiguous genitalia at birth), salt wasting, and increased 17-alpha-hydroxyprogesterone levels. Diagnosis is suggested by increased levels of 17-alpha-hydroxyprogesterone and confirmed with ACTH stimulation test.
*11-alpha-hydroxylase deficiency, which results in androgen and mineralocorticoid excess

2. Cephalohematoma is a subperiostal hemorrhage. presents few hours after birth limited to the surface of one cranial bone.

*Caput succedaneum is a diffuse, sometimes ecchymotic, swelling of the scalp. across the midline and across suture line
3. Craniopharyngiomas derived from epithelial remnants of Rathke™s pouch. cause bi-temporal hemianopia by pressing optic chiasma. There may also give signs and symptoms of Diabetes Insipidus. X-ray: calcified lesion above the sella
4. Arthrocentesis and empiric treatment with IV nafcillin are the most appropriate measures for the management of suspected septic arthritis in a child.

5. Always consider antibiotic prophylaxis and vaccination against Pneumococci and H. influenza in patients with splenectomy or functional asplenia. The most common cause of bacteremia or sepsis in sickle cell disease is Pneumococcus.

6. Diffuse thickening of glomerular basement membrane and subepithelial spikes are characteristic for membranous glomerulonephritis

7. Minimal change disease Light microscopy and immunofluorescence does not usually reveal any change in kidney architecture. Electron microscopy shows
diffuse effacement of foot processes of podocytes.

8. Iron supplementation in the form of iron-fortified milk formula or medicinal iron, should be started at 6 weeks in all premature and low birth weight babies


9. Marfan™s features + mental retardation + thromboembolic events + downward dislocation of the lens = Homocystinuria. It is an autosomal recessive disease caused by cystathionine synthase deficiency. Treatment mainly involves administration of high doses of Vit B6. Restriction of methionine along with supplementation of cysteine is used for patients not responsive to Vitamin B6 therapy.

10. Krabbe's is a sphingolipidosis due to a deficiency in beta-galactosidase. total absence of myelin. Clinical features include mental retardation, blindness, deafness, paralysis, peripheral motor sensory neuropathy and seizures.
*Fabry's disease is also a sphingolipidosis --deficiency of alpha-galactosidase. Classic clinical features include angiokeratomas, peripheral neuropathy, and asymptomatic corneal dystrophy. They may also develop kidney and heart failure, and thromboembolic events

11. Clubfoot is initially managed with stretching and manipulation of the foot, followed by serial plaster casts, malleable splints, or taping. Surgical treatment is indicated if conservative management gives unsatisfactory results, and is preferably performed between 3 and 6 months.

12. Beckwith-Wiedemann syndrome macrosomia, macroglossia, visceromegaly and omphalocele, hypoglycemia and hyperinsulinemia, microcephaly, prominent eyes, prominent occiput, ear creases and hyperplasia of the pancreas. increased risk of neoplasms such as Wilms1 tumor, hepatoblastoma, and gonadoblastoma.

13. The common congenital problems in an infant of diabetic mother are:
1. Caudal regression syndrome.
2. Transposition of great vessels.
3. Duodenal atresia and small left colon.
4. Anencephaly and neural tube defects.

15. WAGR syndrome consists of Wilms™ tumor, Aniridia, genitourinary anomaly and mental retardation. deletion in chromosome 11.
# Denys-Drash syndrome pseudohermaphrodism and early onset renalmale failure characterized by mesangial sclerosis with increased risk of Wilms™ tumor

16.deficiency of glucose-6-phosphatase- Von-Gierkes. Hypoglycemia caused by failure to release glucose from the liver into the circulation.
#Galactosemia

17. The first step in the management of an infant with suspected congenital diaphragmatic hernia is the placement of an orogastric tube.

# Mongolian spot and18.a flat, well-demarcated, gray-pigmented lesion over the sacral area. usually disappear by the first few years of life.

19. Salmon patch is a flat salmon-colored lesion commonly seen over glabellas, eyelids, and neck. It is a flat vascular lesion and usually disappears in early childhood.

20. A leukocoria is a retinoblastoma until proven otherwise. Diagnosis is made by clinical findings in the presence of calcifications on US or CT scan. a highly malignant tumor, if untreated, leads almost invariably to death because of liver and brain metastases. It results from inactivation of the Rb suppressor gene

21. Metanephros is at the origin of Wilms™ tumor

22. Neuroblastoma is the third most common cancer in the pediatric population (after leukemia and CNS tumors). It arises from neural crest cells which secondarily populate sympathetic ganglia and adrenal medulla.

23. Spondylolisthesis is a developmental disorder characterized by a forward slip of vertebrae (usually L5 over S1) that usually manifests in preadolescent children. In the typical clinical scenario, back pain, neurologic dysfunction (urinary incontinence), and a palpable "step-off" at the lumbosacral area present if the disease is severe.

24. DiGeorge syndrome results from microdeletion of 22q11

25.strabismus -- most common cause of amblyopia. Tx: Continuous covering of the normal eye
26. Presence of inflamed tympanic membrane and diminished movement of the membrane with insufflation are the hallmarks of otitis media.

27. Group B streptococcus is the most common cause of neonatal sepsis. It is part of the normal vaginal flora of women and is transmitted to infants during their passage through the birth canal. Escherichia coli”2nd, Listeria is the third

28. Myotonic muscular dystrophy”AD, Patients are usually normal at birth. Muscle abnormalities begin in childhood and continue slowly into adulthood and include weakness and progressive muscle wasting, especially in the distal muscles of the hands, posterior forearm muscles, and anterior compartment of the lower legs. Myotonia-- represents as delayed relaxation of the affected muscles after contraction. inability to release the handshake.
-associated with multiple endocrinopathies (testicular atrophy, diabetes mellitus, frontal baldness, and hypothyroidism), immunologic deficiencies, cataract, neurologic abnormalities, intellectual impairment and dysmorphic facies.

29. Pyloric stenosis is a surgical condition. surgery should be undertaken only after the infant has been resuscitated and electrolytes replaced.

30. ARDS-- Hyaline membrane disease, x-ray: fine reticular granularity of the lung parenchyma, treatment :mechanical ventilation and surfactant.

31. ASD is the only congenital heart disorder, does not develop endocarditis.

32. Urinalysis is a fundamental test that should be performed in all urologic patients.

33. Hand-foot syndrome, or dactylitis, occurs in children ages 6 months to 2 years. It is the earliest manifestation of vaso-occlusion in sickle cell anemia. Hence, a workup for sickle cell anemia should be done in these patients. Dactylitis presents with the acute onset of pain and swelling, symmetrically involving the hands and feet.


34. Granulosa cell tumors produce excessive amounts of estrogen, and can present with precocious puberty in younger children and postmenopausal bleeding in elderly patients.

35. Childhood disintegrative disorder is a rare pervasive developmental disorder, which occurs more commonly in males. It is characterized by a period of normal development for at least two years. This is followed by a loss of previously acquired skills in at least two of the following areas: expressive or receptive language, social skills, bowel or bladder control, play and motor skills.

36. Oppositional defiant disorder is a childhood behavioral disorder. -- defiant and hostile behavior. disobedient, easily annoyed, spiteful and argumentative, deliberately annoy others, and often blame others for their mistakes.

37. Asperger disorder is characterized by a qualitative impairment in social interaction and restricted, repetitive and stereotyped patterns of behavior. have normal cognitive and language development (*diffentiating point from autism)
38 Voiding after intercourse has been shown to decrease the risk of UTI in sexually-active females.

39. The incidence of vertical transmission of HIV can be reduced from 25% to 8% by administrating ZDV to pregnant women and their offspring. ZDV is administered orally during pregnancy after the first trimester, intravenously during labor and delivery, and orally to the neonate for the first 6 weeks of life.

40.Retinal hemorrhage is considered to be an extremely ominous sign of preeclampsia

41.Precocious puberty, # McCune-Albright syndrome spots and multiple bonePigmentationcafe au lait defects (Polyostotic fibrous dysplasia”fractures). (3P™s)Associated with other endocrine disorders, such as hyperthyroidism, prolactin or GH-secreting pituitary adenomas and adrenal hypercortisolism. Caused by defect in the G-protein cAMP-kinase
42. Peutz-Jeghers syndrome is characterized by gastrointestinal tract polyposis and mucocutaneous pigmentation. It may also involve an estrogen-secreting tumor, leading to precocious puberty.

43. Sturge-Weber-- mental retardation, seizures, visual impairment and a characteristic port-wine stain over the territory of the trigeminal nerve, may also be hemianopia, hemiparesis, hemisensory disturbance, and ipsilateral glaucoma. Skull X-rays, reveal gyriform intracranial calcifications that resemble a tramline. Treatment is aimed at controlling seizures and reducing intraocular pressure. Argon laser therapy is successful in removing the skin lesions.

43. Language development:
Social smile: 2 months
Babbles: 6 months
2 words, obeys 1-step command: 1 year
2-3 word phrases, obeys 2-step command: 2 years
Gross motor development:
Holds head: 3 months
Rolls back to front and front to back: 4 months
Sits well unsupported: 6 months
Walks alone: 12 months
Walks up and down stairs without help: 24 months
Fine motor development:
Raking grasp: 6 months
Throws object: 12 months
Builds tower of 2 blocks: 15 months
Builds tower of 6 blocks/turn pages of books: 2 years
Builds tower of 9 blocks: 3 years
Social development:
Recognizes parents: 2 months
Recognizes strangers (stranger anxiety): 6 months
Imitates action/comes when called: 12 months
Plays with other children: 18 months
Parallel play: 24 months

44.Klumpke paralysis”Klumpke™s paralysis is a brachial palsy that occurs in newborns following excessive traction on the arm. It consists of hand paralysis and ipsilateral Horner™s syndrome (ptosis and miosis), and is secondary to injury to seventh and eighth cervical nerves and first thoracic nerve.
45. Erb-Duchenne palsy -- brachial intact grasppalsy, fifth and sixth cervical nerves. absent Moro reflex and reflex of the affected arm. with a characteristic position adduction and internal rotation of the arm with pronation of the forearm.

46. Children with a parental history of elevated total cholesterol levels (>240 mg/dL), or risk factors for coronary artery disease should get a screening test for total cholesterol level.

47. Midgut volvulus usually presents in a child less than one month with bilious vomiting, abdominal distension and bloodstained stools.

48.Meningitis may be complicated by regression of developmental milestones.

49.Increased gastric residues in a preterm neonate is highly suspicious for necrotizing enterocolitis.

50.Pinealoma develops in the dorsal aspect of the midbrain. Symptoms consist of endocrine syndrome, intracranial hypertension, Parinaud's sign (paralysis of vertical gaze), and Collier's sign (retraction of the eyelid).

51. Craniopharyngiomas arise in the sella turcica, and symptoms usually include visual field defects and endocrine syndrome. It is characterized by a cystic structure with presence of calcifications

52.In the pediatric population, infratentorial tumors are more common than supratentonal tumors, and benign astrocytomas are the most common histologic type in both group.

53. Vitamin A reduce morbidity and mortality of measles


54. Immnunoprophylaxis with VZIG may not prevent infection, but does effectively reduce disease severity. Postexposure prophylaxis for chicken pox is provided with VZIG (Varicella Zoster Immune globulin) or acyclovir. Postexposure prophylaxis with VZIG is preferred and indicated in susceptible high-risk persons exposed to varicella within 96 hours (preferably 72 hours) of exposure.

55.Thyroid dysgenesis is the most common cause of congenital hypothyroidism in United States.

56.Iodine deficiency or endemic goiter is the most common cause of congenital hypothyroidism worldwide but essentially not seen in the United States.

57. In a young child of 2-5 years age with a localized abdominal mass and hematuria, one has to think of Wilms tumor, does not cross the midline, associated with Beckwith-Wiedemann and Denys-Drash syndromes. If the child age is less than 1 year think of neuroblastoma-- usually crosses the midline and diagnosis is made by urinary metabolites of catecholamine.

58. Diagnosis of anemia of prematurity:
1. Peripheral smear shows normocytic and normochromic anemia. No other abnormal forms are seen.
2. The reticulocyte count is low, and red blood cell precursors in the bone marrow are decreased.
3. Normal WBC and platelet counts.
4. Normal total bilirubin level.
Treatment:
The treatment involves iron supplementation, periodic hemoglobin checking and blood transfusion if needed. Erythropoietin is not routinely used.

# erythema toxicum skin59.eosinophils in the lesions
Milia are small pearly white cysts

60. Transposition of great vessels is the most common cyanotic heart disease which presents with cyanosis in the first 24 hours of life. It is commonly seen in infants of diabetic mothers and in males w tachypnea, subcostal retractions, a normal S1, single and loud S2, and no murmur. 61.Maintaining the patency of the ductus arteriosus is important for survival. Surgical treatment is definitive.

62. A simple-partial seizure causes either motor, sensory, autonomic or psychic symptoms without alteration in consciousness.

63.Complex-partial seizures present with an aura, and subsequently with behavioral arrest accompanied by involuntary automatism; there is a postictal confusion or aphasia.

64.The 24-hour esophageal pH monitoring is the gold standard for the diagnosis of gastroesophageal reflux
65. posturing of Sandifer™s syndrome -- during disease. Infant w this disease vomiting episodes, the child assumes athe position with his head tilted to the left side and his back arched

66.Tricuspid atresia is a cyanotic congenital heart disease characterized clinically by cyanosis that appears early in life and left axis deviation. Most cases (90%) are associated with ventricular septal defect, and 30% are associated with transpositioned great arteries. Both tetralogy of Fallot and tricuspid atresia have normal heart size and decreased vascular marking on chest x-ray. However, in tetralogy of Fallot, EKG demonstrates right atrium dilation and right ventricle hypertrophy.

# Ebstein™s anomaly67.extreme cardiomegaly with marked right atrial enlargement.

68. an upper respiratory tract infection and later develops a rash after exposure to amoxicillinampicillin or infectious mononucleosis caused by Epstein-Barr virus

69.** Aseptic necrosis of the femoral head is a common complication of sickle cell disease. It involves occlusion of end arteries supplying the femoral head, bone necrosis, and eventually collapse of the periarticular bone and cartilage. non-traumatic causes of avascular necrosis of the femoral head include chronic corticosteroid therapy, SLE, alcoholism, and Gaucher's disease .
70. Surgery used for primary coarctation. Recoarctation can present years later with upper extremity hypertension and diminished lower extremity pulses. treatment is balloon angioplasty.

71.hemophilia--factor VIII assay is diagnostic. Prolonged PTT, normal prothrombin time, normal bleeding time, normal fibrinogen level and low serum factor VIII activity .The standard treatment for hemophilia is to replace the factor VIII. mild hemophilia may be treated with desmopressin (DDAVP), which causes release of factor VIII from the endothelial cells.

72. Parainfluenza virus is the most common agent responsible for croup in children. Staphylococcus aureus and anaerobes are common causes of chronic sinusitis

73.Streptococcus pneumonia is the most common cause of acute sinusitis in childhood, followed by Haemophilus influenzae and Moraxella catarrhalis. Same as otittis media

74. Attention deficit hyperactivity disorder--short attention span, impulsivity, and hyperactive, excessive talking for more than 6 months & than one setting (school and home).

75. Oppositional defiant disorder usually presents in adolescence with negativistic, hostile, and defiant behavior towards adults. Arguments, temper outbursts, and deliberate annoyance

76. Conduct disorder-- aggression, property destruction, theft, and deceitfulness (less than 18yrs,) after this age diagnosis of antisocial personality disorder is made.


77.Silver nitrate is administered to all neonates at birth to prevent Gonococcal conjunctivitis. It may cause mild conjunctival irritation and tearing that resolve generally within 24 hours. Gonococcal conjunctivitis is the most destructive to the eye; it presents as a hyperacute and highly purulent conjunctivitis that appears 2 to 5 days after birth and may result in corneal perforation and permanent loss of vision if left untreated. Tx: ceftriaxone.

78. Neonatal chlamydial conjunctivitis is treated with systemic erythromycin because of the risk of pneumonia.

79.Moderate to severe degree of slipped capital femoral epiphysis requires surgery. failure of the growth plate between the femoral neck and femoral head, resulting in displacement. limitation on internal rotation, range of external rotation is normal.
SCFE has three degrees of severity:
Mild - approximately 30% of the femoral head slips off of the metaphysis.
Moderate - approximately 30-60% of the femoral head slips off of the metaphysis
Severe - more than 60% of the femoral head slips off of the metaphysic
Mild SCFE may be treated conservatively by regular use of crutches to keep weight off the affected hip.

80.** cyanosis, aggravated by feeding and relieved by crying choanal atresia. Diagnosis is made by the failure to pass a catheter through the nose 3-4 cm into the oropharynx. CT scan with intranasal contrast, which shows a narrowing at the level of the pterygoid plate. The first step in management consists of placing an oral airway and lavage feeding. Definitive treatment consists of repairing the obstruction with surgery or endoscopy

81. Edwards' syndrome--closed fists with the index finger overlapping the 3rd digit and the 5th digit overlapping the 4th, narrow hips with limited abduction, short sternum, rocker-bottom feet, microcephaly, prominent occiput, micrognathia, cardiac and renal malformations
# Trisomy 13, or Patau's syndrome, presents with cleft lip, flexed fingers with Polydactyly, ocular hypotelorism, bulbous nose, low-set malformed ears, small abnormal skull, cerebral malformation, microphthalmia, cardiac malformations, scalp defects, hypoplastic or absent ribs, visceral and genital anomalies.
Remember if >1 yr + genetical syndrome= it is not edward/ trisomy

82.Epiglottitis is seen in children 3-7 years of age. They appear very toxic, have stridor and high-grade fever, and will often be droolingTx: Endotracheal intubation with a set up for tracheostomy
83.Nebulized Racemic epinephrine and oral dexamethasone are the management options for Croup

84.The infantile form of botulism is different from the adult form:
the Clostridium botulinum gains entry Infant the food, especially inthrough
honey and produces the toxin in the intestinal tract
the toxin ingested produces the Adultsymptoms

85.Werdnig Hoffmann's Degeneration of the anterior horn diseaseand cranial nerve motor nuclei

86.Gaucher™s disease-- deficient activity of the lysosomal enzyme acid beta-glucosidase, bone pain, pathological fractures. Erlenmeyer flask deformity of the distal femur, and characteristic Gaucher cells with their wrinkled paper appearance in bone marrow

87.Niemann-picks-- deficient sphingomyelinase. failure to thrive, hepatosplenomegaly, and a rapidly progressive neurodegenerative, cherry red macula, protruding abdomen, lymphadenopathy, and regression of developmental milestones.

88. GM1 gangliosidosis results from the deficient beta-galactosidase-- hepatosplenomegaly along with skeletal abnormalities including anterior beaking of the vertebrae, enlargement of the sella turcica, and thickening of the calvarium.

# GM2 gangliosidoses include Tay-Sachs and Sandhoff's -- deficiency of
Hexosaminidase, cherry-red spot in retina and neurologic symptoms

89.** The growth of axillary hair results from androgen secretion by the adrenal glands (adrenarche). Premature adrenarche, or the isolated appearance of axillary hair before the age of six years, is generally benign and has no clinical significance.


90. Positive anti-Smith antibodies and/or anti-double stranded DNA antibodies is specific and confirmatory for the diagnosis of systemic lupus erythematosus.

91.Kartagener™s syndrome -- situs inversus, recurrent sinusitis, and bronchiectasis. on x-ray--dextrocardia (the apex of the heart is in the right chest). Autosomal recessive, aberrant production or attachment of dynein arms-- in impaired cilial function

92.Acute severe exacerbation in patients with cystic fibrosis caused by **pseudomonas aeruginosa, S. aureus, and H.
Gram-positive rods D Listeria, Bacillus
Gram-negative rods D Pseudomonas, Hemophilus, Klebsiella, Legionella
# Gram-positive rods D Listeria, Bacillus
Gram-negative rods D Pseudomonas, Hemophilus, Klebsiella, Legionella
The common organisms cause pneumonia in cystic fibrosis are: Hemophilus.
Pseudomonas. Staphylococcus.

93.Asperger syndrome-- language development is normal.

94.Kawasaki disease or mucocutaneous lymph node syndrome is one of the most common causes of generalized vasculitis in children. echocardiography performed within 7 days of the disease onset, then repeated 6 to 8 weeks later.
Tx: hospitalized with intravenous immune globulin (IVIG) and high-dose aspirin. Aspirin is useful for fever and arthritis. IVIG has been shown to reduce the incidence of coronary artery aneurysms and other complications. Influenza vaccination is recommended in patients with Kawasaki's disease taking life long aspirin therapy

95. Bedwetting is a normal phenomenon until the age of 5.

96. Trachoma, caused by Chlamydia trachomatis is the most common cause of blindness in the world. The diagnosis made by lymphoid follicles on the conjunctiva, scarring and limbal follicles.
97.Pyloric stenosis presents with non-bilious vomiting in a 4 to 8-week-old child, and abdominal ultrasound confirms the diagnosis.

98.Clavicular fracture-- Generally, no specific treatment is required. Rarely, immobilization may be required using a figure-of-eight strap

99.Milk protein intolerance may present with vomiting and bloody diarrhea. Stools may show RBCs and eosinophils

100.Galactosemia-- Galactose-1-phosphate uridyl transferase deficiency: jaundice, hepatomegaly, vomiting, hypoglycemia, convulsions, poor weight gain, aminoaciduria, cataract, hepatic cirrhosis, or mental retardation. increased risk for Escherichia coli neonatal sepsis.
** Remember, failure to thrive, bilateral cataract, jaundice and hypoglycemia for galactosemia.

101. Iron poisoning --Tx Deferoxamine, an iron chelator, is used IV in moderate to severe intoxications

102. Gastroschisis is diagnosed at birth by protrusion of bright red intestines to the right side of the umbilicus. There is no covering of the intestines and umbilicus is normal. It is a surgical emergency.

103. Topical mupirocin or oral erythromycin is the treatment of choice for local impetigo. Impetigo is a superficial skin infection with multiple vesiculopustules on the exposed areas of face and extremities, which rupture giving a thick adherent crust with characteristic golden yellow appearance

104. Surgery is advised in umbilical hernia if the hernia persists to the age of 3-4 years, exceeds 2 cm in diameter, causes symptoms, becomes strangulated, or if it enlarges progressively after the age of 1 to 2 years.

# An omphalocele is a herniation or protrusion of abdominal contents into the base of the umbilical cord, the sac is covered with peritoneum without overlying skin. Immediate surgical repair

105.Acute post streptococcal glomerulonephritis-- C3 and CH50 levels are low resolve in 8 to 12 weeks. Hematuria may persist for up to 6 months. renal function returns to normal in 1 - 2 weeks

106.Meckel's diverticulum usually presents at 2 years of age with painless rectal bleeding.

107.Intussusception, the most common cause of intestinal obstruction in the first two years of life, presents with intestinal obstruction and red currant jelly stools containing blood and mucus. sausage-like mass palpable

108.Obesity is a risk factor for uterine cancer, type 2 diabetes later in life

109.Laryngomalacia or congenital flaccid larynx is the most common cause of chronic inspiratory noise in infants, laryngoscopy-- finding of an epiglottis rolling in from side to side is diagnostic, virtually all infants the symptoms disappear by two years of age. Need hold the child in an upright position for half an hour after feeding, and to never feed the child when he is lying down.

110. Septic joint is a true surgical emergency in pediatric orthopedics and needs immediate surgical drainage as delay of even 4-6 hours can lead to avascular necrosis of the femoral head, Intravenous antibiotics are required with surgical drainage
111.Displaced anterior fat pad is a radiographic sign of supracondylar fracture, which may be complicated by Volkmann™s ischemic contracture.

112. Hyper-IgM syndrome (HIM) is characterized by high levels of IgM with deficiency of IgG, IgA and poor specific antibody responses to immunizations. HIM presents with recurrent sinopulmonary infections and Pneumocystis carinii pneumonia.

113. X-linked agammaglobulinemia (XLA) is characterized by four findings:
1 . recurrent bacterial infections in the first 5 years of life,
2.Serum IgG, IgM and IgA values at least 2 SD (standard deviation) below the normal for age(low GAM),
3.Absent isohemagglutinins or poor response to vaccines,
4.Less than 2% CD19+ B cells in the peripheral circulation.

#Common variable immunodeficiency (CVID) is a heterogeneous syndrome, presenting with low IgG levels, IgM and IgA levels. The serum immunoglobulins and antibody deficiencies in CVID may be as profound as in XLA but with normal numbers of circulating immunoglobulin-bearing B-lymphocytes

# Wiskott-Aldrich syndrome-- eczema, thrombocytopenia, and recurrent infections with encapsulated germs in a young boy. low IgM,
high IgA and IgE

114.Fetal alcohol syndrome is characterized by midfacial abnormalities (short palpebral fissures, epicanthal folds, long philtrum, thin upper lip), cardiac defects (atrial or ventricular septal defect, persistence of arterial canal), multiple joint anomalies, prematurity, growth retardation and MOST COMMON CAUSE OF
mental retardation.(REMEMBER DOWN™S SYNDROME IS SECOND M/Co cause of Mental retardation)

115. lithium”Ebstein™s anomaly

116. Self-mutilation in the presence of dystonia is characteristic of Lesch-Nyhan syndrome. It is an X-linked recessive disorder-- deficiency in hypoxanthine-guanine phosphoribosyl transferase (HRPT), neurologic features including mental retardation, dystonia, choreoathetosis and spasticity. Gout is usually seen in patients of above 50 years of age. If you see a boy with gout, suspect this.

116.Friedreich ataxia-- autosomal recessive, an excessive number of trinucleotide repeat sequences, resulting in an abnormality of a tocopherol transfer protein. gait ataxia, frequent falling, and dysarthria. Neurological manifestations result from degeneration of spinal tracts (spinocerebellar tracts, posterior columns, pyramidal tract). also associated with necrosis and degeneration of cardiac muscle fibers leading to myocarditis, myocardial fibrosis and hypertrophic cardiomyopathy, diabetes, and skeletal deformities, like scoliosis and hammer toes. The most common causes of deaths are cardiomyopathy and respiratory complications
Remember the combination of neurologic (ataxia, dysarthria), skeletal (scoliosis, feet deformities) and cardiac (concentric hypertrophic cardiomyopathy) manifestations of the disease.

# Zellweger's syndrome is a disorder due to a defect in peroxisomes. Features of diagnostic importance are the typical facial appearances of high forehead, up-slanting palpebral fissures, hypoplastic supraorbital ridges, epicanthal folds, and redundant skin fold of the neck. Severe weakness and hypotonia, neonatal seizures, wide-open sutures and eye abnormalities such as a cloudy cornea, cataract, or glaucoma are also frequently found in the neonatal period. Infants with Zellweger's syndrome rarely live more than a few months.

117.Turner's syndrome with 46 XY ( usually 45XO )karyotype is associated with a higher incidence of gonadoblastoma, and hence, prophylactic bilateral gonadectomy is indicated.

118.Neonatal adrenoleukodystrophy-- Enlarged liver and impaired liver function, pigmentary degeneration of the retina, severely impaired hearing X-linked ALD is a genetically determined disorder associated with the accumulation of saturated very long chain fatty acids and a progressive dysfunction of the adrenal cortex and nervous system white matter. Symptoms are generally first noted between the ages of 4 and 8 years. The most common initial manifestations are hyperactivity, disturbances of vision, ataxia, poor handwriting, seizures, and strabismus

119.Refsum disease-- gait abnormalities, sensorineural hearing loss, and pigmentary degeneration of the retina(impaired vision)

120.treatment of Bordetella pertussis infection is erythromycin for 14 days.

121. A positive Coombs' test points towards autoimmune hemolytic anemia, and a
* positive osmotic fragility test points towards hereditary spherocytosis.

122.Maternal HIV infection is an absolute contraindication to breast-feeding.

123.Hydroxyurea is indicated in patients with frequent, acute, painful episodes, as it tends to increase Hb F levels.




126.Reye's syndrome “ After treated with salicylates for a viral infection, vomiting, agitation, and irrational behavior, progressing to lethargy, stupor, restlessness, and
convulsions. Lab findings include hyperammonemia, normal or slightly elevated bilirubin and alkaline phosphatase, prolonged prothrombin time, hypoglycemia, and moderate to severe elevations in AST, ALT, and lactate dehydrogenase. Tissue histopathology demonstrates microvesicular steatosis of the liver, kidneys, and brain. Treatment for Reye's syndrome is supportive.
*Carnitine deficiency also presents like reye™s syndrome but instead Acyl carnitine level is high

127.Glucose-6-phosphatase deficiency-- Von-Gierkes: hepatomegaly w hypoglycemic seizures, fat cheeks, relatively thin extremities, short stature, and a protuberant abdomen. kidneys enlarged, whereas the spleen and heart are normal. The hallmarks of the disease are hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia.

#Pompes1 disease -- deficiency acid maltase. floppy baby, macroglossia,
Hepatomegaly, hypertrophic cardiomyopathy

# Type III glycogen storage disease -- deficiency of glycogen debranching enzyme. hepatomegaly, hypoglycemia, hyperlipidemia growth retardation. Splenomegaly may be present, but kidneys are not enlarged. elevation of liver transaminases level and fasting ketosis are prominent, but blood lactate and uric acid concentrations are usually normal.

# Deficiency of branching enzyme -- type IV glycogen storage disease or amylopectinosis.
# Infection by respiratory syncytial virus may increase the risk of asthma in later life.



128.** The adverse reactions to the DTaP vaccine are usually attributed to the pertussis component of the vaccine. So Administer the diphtheria and tetanus toxoids, avoid the pertussis component. If An immediate anaphylactic reaction, an encephalopathy, or any CNS complication within 7 days of administration of the vaccine is a contraindication for further administration of DTaP

129.** Mammary gland enlargement and non-purulent vaginal discharge are common findings in newborn infants. They represent benign and transitory events that are explained by target-organ response to transplacental^ acquired maternal hormones (estrogens). No work-up is necessary, and routine care should be provided to the infant.

130.The cerebral lesions in Sturge-Weber syndrome are histologically similar to the facial lesions.diagnosis as well as the follow-up is CT scan of the head

131.the highest morbidity and mortality after HUS is the kidneys damage.
132.** DNA studies are used to confirm the diagnosis of Duchenne muscular dystrophy, not Muscle biopsy
-deficiency of Dystrophin

133. Painless gross hematuria is the most common presentation of sickle cell trait

# Frequent UTI is found to occur in pregnant individuals with sickle cell trait. Dactylitis, otherwise known as hand-foot syndrome, is common in patients with sickle cell anemia. It presents as painful swelling of feet and hands, symmetrically.

134. 3 years- copies a cross and circle, 4 years- copies a square and rectangle, 5 years- copies a triangle, 6 years- copies a diamond


135.Tx: ITP when pt < 30000/mm3 with corticosteroids

# supracondylar fractures of136. Brachial artery injury humerus
137. Rib notching, caused by the dilatation of the collateral chest wall vessels, is specific for coarctation.

138.Howell Jolly bodies are characteristic findings seen in the peripheral smear (PS) of patients with functional asplenia due to sickle cell disease. Howell-Jolly bodies are the nuclear remnant within the RBC, which are generally removed by functional spleen, thus their presence in peripheral smear suggests splenectomy or functional asplenia

# Heinz bodies -- aggregates of denatured hemoglobin, common see in G6PD deficiency and thalassemia. When phagocytes extract this rigid precipitate, they form the characteristic Bite cells
# Helmet cells are fragmented RBC, suggestive of traumatic hemolysis, seen in DIC, HUS and TTP.

139. measles (rubeola)”
# Rubella-- posterior cervical lymphadenopathy, The rash is fine, pink, maculopapular, and occurs in rapid progression (3 days) from face to trunk, giving it the name of 3-day measles. Leukopenia

140.American Academy of Pediatrics advises against the use of cow's milk in the first year of life. Infants should receive breast milk or iron fortified formulas for the first year of life, and iron-fortified cereal should be added at the age of 4-6 months.

141. Persistent oral thrush, lymphadenopathy, chronic diarrhea and hepatosplenomegaly may be the presenting symptoms of AIDS in infants.


142. Classic phenylketonuria -- deficiency phenylalanine hydroxylase accumulation of phenylalanine in body eyes, unpleasant odor of phenylaceticfluids. blonde with fair skin and blue acid(musty or mousy), may have a seborrheic or eczematoid rash. in early infancy with vomiting, failure to thrive, developmental delay, and metabolic acidosis. The criteria for diagnosis of classic PKU are:
1. A plasma phenylalanine level above 20mg/dl_,
2. A normal plasma tyrosine level,
3. Increased urinary levels of metabolites of phenylalanine (phenylpyruvic and ohydroxyphenylacetic acids),
4. A normal concentration of the cofactor tetrahydrobiopterin.

143. Alcaptonuria-- deficiency of homogentisic acid oxidase, a darkening of the urine to almost a black color on standing. ochronosis and arthritis

144.Neonatal necrotizing enterocolitis-- x-ray: pneumatosis intestinalis

145.Lateral epicondylitis, or "Tennis elbow," is caused by repetitive contraction of the extensor muscles at their origin on the lateral epicondyle. Tenderness is elicited over the lateral epicondyle, and pain is felt with passive wrist flexion and resisted wrist extension.

146.Nursemaid's elbow-- radial head subluxation. 1-5 years caused by lifted or pulled by the hand or arm

147. For pertussis prevention, all close contacts should be given erythromycin for 14 days, regardless of age, immunizations, or symptoms.

148.In a young child who presents with recurrent upper respiratory tract infections and bilateral nasal polyps, cystic fibrosis must be ruled out.

149. Recurrent self-limiting episodes of vomiting and nausea in children, in the absence of any apparent cause, suggest the diagnosis of cyclical vomiting. treatment consists of anti-emetics and reassurance of the parents
150.**A white reflex (also called cat's-eye reflex) means that the patient has leukocoria, or white pupils. The cause of leukocoria is congenital most common cataract, and the most dreaded cause is retinoblastoma. The causes of cataract include familial, congenital infections, metabolic conditions (e.g. diabetes mellitus, galactosemia), genetic disorders (e.g. Down's syndrome, Turner's syndrome), and long-term/high-dose glucocorticoid use.
151. Empiric steroid therapy is indicated in young patients presenting with nephrotic syndrome.
Renal biopsy is commonly used in adult patients presenting with nephrotic syndrome

152. Tuberous sclerosis (TSC) --- often presents during the first year of life with clusters neck, trunk, andof brief symmetrical contractions of the hypsarrhythmia, extremities, known as infantile spasms. EEG which consists of chaotic, high-voltage, bilateral, asynchronous, slow-wave activity. hypopigmented lesions (ASH leaf spots), cortical tubers on head CT. risk renal angiomyolipomas and cardiac rhabdomyosarcomas
The best drug for infantile spasms is intramuscular ACTH

153. Asthma accompanied by other allergic disorders like allergic rhinitis and eczema, mast cell stabilizers are the agents of choice-- Inhaled sodium cromolyn
Fluticasone not controlled withsevere chronic asthma steroids like beclomethasone or triamcinolone. It is four times more potent than beclomethasone.
Oral corticosteroids corticosteroids do notwhen inhalation provide adequate control of asthma symptoms.
Oral theophylline ->control of nocturnal symptoms of asthma

154. Parinaud's syndrome-- paralysis of vertical gaze, may be associated with pupillary disturbances and eyelid retraction (Collier™s sign). It results from lesion of the rostral midbrain at the level of the superior colliculus and CN III. most commonly caused by germinomas and pinealomas
# In 90% of cases, Medulloblastoma arises from the cerebellar vermis


155. Nodular swellings in the irises of patients with neurofibromatosis are hamartomas
Neurofibromatosis”AD, risk for optic gliomas(pale optic discs and decreased visual acuity

156. Always give a trial of epinephrine in cases of croup before intubation

157. congenital toxoplasmosis- chorioretinitis, hydrocephalus, and intracranial calcifications.

158.Congenital rubella-> sensorineural deafness, cataracts, and cardiac defects.

159.congenital syphilis-> intermittent fever, osteitis and osteochondritis,
mucocutaneous lesions, lymphadenopathy, hepatomegaly
and persistent rhinitis

160. Fragile X profound to normal syndrome disability,IQ with learning disabilities, generalized language hyperactivity, short attention span, autism, large head, prominent jaw, large low set ears and macroorchidism. increased number of CGG trinucleotide repeats, mutation in the FMR1 gene

161.Fetal hydantoin syndrome is hypoplastic nails, cleft palate, and
vitamin K deficiency

162.Werdnig-Hoffman syndrome is an autosomal recessive disorder that involves degeneration of the anterior horn cells and cranial nerve motor nuclei. It is a cause of "floppy baby" syndrome along with infant botulism

163.Myotonic congenital myopathy is an autosomal dominant disorder characterized by muscle weakness and atrophy most predominant in distal muscles of the upper and lower extremities, myotonia, testicular atrophy, and baldness. hypotonia,
164. Congenital hypothyroidism large tongue, sluggish movement, abdominal bloating, and umbilical hernia. most common cause is thyroid dysgenesis

165. Fanconi's anemia is an autosomal recessive, progressive pancytopenia and macrocytosis, Associated deformities include cafe-au-lait spots, microcephaly, microphthalmia, short stature, horseshoe kidneys and absent thumbs

166. Diamond-Blackfan anemia -- also called congenital hypoplastic anemia. an intrinsic defect of erythroid progenitor cells which results in increased apoptosis (programmed cell death). macrocytic pure red aplasia associated with several congenital anomalies including short stature, webbed neck, cleft lip, shielded chest and triphalangeal thumbs.

167. arteriovenous malformation is the most common cause of the subarachnoid hemorrhage in children. The history of seizures and migraine-like headaches is characteristic.

168. Upper gastrointestinal endoscopy is the diagnostic study of choice when a patient presents with acute alkali ingestion

169. Acute UTI in children is most commonly due to vesicoureteral reflux. Diagnosis is made with voiding cystourethrogram (VCUG) followed by renal imaging.

170. Unilateral flank mass in a child more than 3 years is most likely due to Wilm™s tumor arises from the metanephros.

171. Ventricular septal defects are common in patients with Edward ˜s syndrome

172. Conotruncal abnormalities (Truncus arteriosus, Tetralogy of Fallot, interrupted aortic arch) are associated with CATCH D22 syndromes, including DiGeorge and velocardiofacial syndromes.
173. The current recommendations by the American Association of Pediatrics suggest that for children

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