Arvind Arora c oo _ M.S. Orthopaedics fan Assistant Professor a, Seth G.S. Medical Colle; a a KEM Hospital, Mumbe : Co-Author Kalpana Arora . a D. Pathology — Assistant Professor KJ. Somaiya Medical ae : 7 x « F. haan rs eae ~ oo Werebretun apd 9 tatefined as : Head circumference is more than 3 SD below tk hich a ‘does not show much change b tween 1-5 years A baby tun shishead sound athe age of ‘1 month. a ld can sitwith support at theage ojat2 year: Walking up and down on stair: entence, turn pages of book one at a time. /ayear): Climb stair with alternate feet tower of 9 eubes, knowsname, = antmilestones at 3 years Rides tricycle, stand on one foot (momentarily), draws a circle, dress or undress, buckles shoe, knows ind age, Handedness establishes, tower of 10 cubes, vocabulary of 250 words, Identify two colours. Hops on one feet, gets downsti a PAO cin welasor Gets downstair with alternate feet, draws a: milestones at 5 year: Draws a triangle and tilted cross, skips, ‘of temporary teeth (milk or deciduous teeth) :20, inumber of permanent teeth : 32. th start erupting at the age of 6 months, teeth start erupting at the age of 6 years, case with one step ata time (but not by alternate feet), use of pronouns Use sentence of 10 words. teeth are erupted: Between 17-25 years. ituitarism, rickets, Down's syndrome, malnutrition. 5 of proportionate short stature: Familial, constitutional delay, IUGR, malnutrition, hypopituitrism (GH deficiency). Important causes of disproportionate short stature : Hypothyroidism, achondroplasia, mucopolysaccharidosis. low for chronological age but normal for bone age. a Features offamilial short stature : Low birth weight, bone age is normal for chronological age, positive family history, normal growth velocity. ‘proportion is seen in: Achondroplasia juvenile myxedema (hypothyroidism), ecretinism. a = FReverseinfantle body proportion i seen in: Marfan's syndrome, Homocystinuria,Klinefelter syndrome, Frolich’s syndrome, Eunuchoidism. vine gin writing, reading problems, mathematic mistakes, problem in spelling : Specific learding disabity, ee Characteristic triad of ADHD : Hyperactivity (fst symptom), impulsiveness, inattention, of ADHD : Disturbing others, difficulty in playing, does not listen to teaching, ynt ‘Nota feature of ADHD : Mental retardation. or ADHD: Methylphenidate (DOC), amphetamines, atomoxeting = * Important features of autism : Impaired communication/social interaction, stereotype repetitive behavior, impaired imaginaiiced .__ delayed speech, low socio-economic group, onset before 3 years. — problem. nae Features of Retts syndrome : Repetitive hand wringing movement with autistic behavior, breath holding spells, microcephaly, ence of nocturnal enuresis is seen when treated by : Behavioral Treatment of choice for nocturnal enuresis in a 5 years old child: No treatment (no treatments required up to 6 years t nocturnal enuresis: Nasal desmopressine (drug of choice), imipray . Tite about breath holding spells: May be cyanotic or pallid, treatment s reassurance, atropine and iron may be are never required. abeiinitiated within 30 minutes formal ‘ B petosk nsportant protective compote ORME RANE againstinfection :19A. a *S_Sto/2ciin breast mi whichis equred ornormal growth of bain: Decosshanaenose sees © PABA in breast milk: Provides protection against:Plasmodium. Breastfeeding may cause deficiency of: vitamin B12) tion of physiologi ants breastfeeding can cause: Hemorrhagic disease of newborn (due to deficiency of vitamin, prolongation of physiologic) Jaundice, golden colour stool * Notseen in exclusive breast feeding :Evening colic (breast = Main protein in human milk: Whey protein, Main protein in Cow's milk: Casein. Human milk contains more (than Caw’ milk): Lactose, antibodies, lactoferrin. Cow's milk contains more than human milk) :Pratein salts (sodium eBla Percentage of lactose in human milk: 7-0% (7. gm/100 mi). Fore-milkis rich in : Proteinysugar, vitamins, minerals wated Hind milkis ich in : Fat, energy. ‘tamins but less fat and sugar (than mature milk), lactose (in comparison to term milk), : * Breast milk can be stored for:8:10 hrs at room temperature, 24 hours in efigerator,3 monthein Heezer at ZO Breast milk is known to transmit : CMV, HIV. —_ "Basic pathology inickets Defective mineraliatin of rly fined BSG GSN + _Most prominently affected in Rickets : Growth plate (physi), Le. defective mineralization of growth, ‘© Important features of rickets ‘Thickening & widening of physis, cuppingffaring & © Earliest manifestation of Rickets : Craniotabes, ‘© Important features of rickets : Craniotabes, delayed closure of ahtetiol fa rosary, genu valgus, bowing of tibia, double malleol sign, wind fo * Windswept deformity in children i seen in: Rickets (most commieause), dysplasia. *# Nota feature of rickets in infants: Bowing of legs (i develop ‘¢ ,, Most common cause of genu valgum in children :Rickets, W/ Not a feature ofRickets: Gunstock deformity (itis seen in malunited 3 Craniotabes is seen in :ickets, hydrocephalus, syphilis osteogenesis © Differential diagnosis ofrachitic rosary (costochonaljunetion si © Important lab findings in vitamin D dependent rickets: Normal or si alkaline phosphatase, increase PTH, increased serum bicatbonate, Primary defect in scurvy: Decreased osteoid (protein mati format 2 Important features of scurvy :Subperiosteal & gingival ble ‘e Pseudoparalysis in an infant suggests: Scurvy, @ Pseudoparalysisis also seen in wimberge Son i dito det ae vitamin is: Vitamin ASUMMARY OF CHAPTER IN ONE LINERS (QUICK REVISION FOR ALL INDIA PATTERN) Neonatal period extends upto : First 28 days of life. Important findings in a normal newborn: Length 50cm, heart rate 120-140 per min, peripheral cyanosis, attitude of flexion, systolic murmur. Not a finding in. a normal newborn : Central cyanosis (there is peripheral cyanosis). Treatment of vaginal bleeding in a 4 days old neonate : No treatment (it is minor clinical problem between 3-7 neonatal days). Common sites of mongolian spots : Presacral area (lower back & buttocks), legs, shoulder, posterior thighs. Treatment of hymen tag in a neonate : No treatment (it is a normal finding). Newborn babies are able to breath and suck at the same time because of : High position of larynx. Reflexes present at birth : Rooting/sucking/swallowing reflexes, crossed extensor, moro's reflex, Assymetric tonic neck reflex, grasp reflex. Reflexes appear after birth : Symmetric tonic neck reflex, parachute reflex, landau reflex. Parachute reflex disappears at : Never (it remains throughout life). Persistence of moro’s reflex is abnormal beyond the age of :6 month (moro's reflex disappears at 6 months). Reflex which never reappears : Moro's reflex Persistence of moro’s reflex beyond 6 months indicates : Dysfunction of CNS (e.g. brain damage). Unilateral moro’sreflexis seen in: Erb's palsy (C,-C, damage), spastic hemiplegia, fracture of humerus or clavicle, shoulder dislocation Not a mechanism of heat production in a neonate : Shivering (neonates respond by non-shi Small for date baby is : Birth weight less than 10th percentile, 3 Low birth weight baby : Birth weight < 2500 gm irrespective of gestational age at birth. Extremely low birth weight baby Birth weight <1000gm (72hrs) neonatal sepisis: From external environments of home or hospital mostly through nursery personal. Featres of respiratory dstrese na neonate Tachypmea,cyanoss Use of accessOFy ce a grunting Nota feature of respiratory distress in a neonate: Wheezing Apnea ininfantlastsfor:>20 Seconds with or without bradycardia/cyanosisor'<30 seconds ifassoclated with bradycardia oF Vana, ‘Meconium passage in utero leads to : Obstructive emphysem, pneumonitis/chemical pneumonia, ‘Meconium aspiration syndrome is seen in : Full term or post-term infants, saat [a ‘Most common cause of death in congenital diaphragmatic hernia : Pulmonary complications (pulmonary hypoplasia and p hypertension) Firstintervention in CDH : Insertion of nasogastric tube. — hypocalcemia, intraventricular hypoglycemia, hypocalcemia, polycythemia, hyperviscocity, hypothermia, ARDS, hypoglycemi Important prognostic factors in CDH : Pulmonary hypoplasia, pulmonary hypertension, gestational. age, size & site of Not a prognostic factor in CDH :Timing of surgery. a Most important risk factor for neonatal respiratory distress syndrome: Prematurlty, Deficiency of surfactant is seen in :Hyaline membrane disease (HMO). ‘Hyaline membrane in HMD Is composed of Fibrin rich edema fluid mixed with remnants of necrotic cells. HMD of newborn presents : Within 6 hours after birth. er Premature newborn with respiratory distress and ground glass appearance on chest X ray: HMD of, Soca Characteristic radilogical features of HMD in neonates :Ground glass appearance and aiffbronchogtar Fetal lung maturity is assessed by :L/S ratio; shake test: Dose of betamethasone in prenatal period to prevent HMD of newbon HID is characterized by: FRC smaller than closing volume. Pathogenic mechanisms in BPD : Oxidant damage by oxygen metabolites, mechanical tra due to capillary damage. ‘Not involved in pathogenesis in BPD: Use of theophylline.PVR, persistan GBALMURCUS arteriosus, single Reni, | RBBB), PAPVR, PS, MS, COA (in ing aN) TOF VSD, PDA, AS, AR, COA, MR, ricuspid atresia, iad Pulmonary, ae nef ventricular hypertrophy (left oxi deviation): it hest infections are seen in ASO,VSD, DA, TGA TAPVR, Recurrent chest infections is nota feature of COA, TOF, pulmonary atresia Tus atresia, (Bil ator cHo which oss not develop cardiomegaly or HF! TOF. a Left atrium is not enlarged in: ASD, ASD may be associated with: Halt-Oram syndrome, TAR syndrome, Down awn syndiome Elis\Van crevald syndrome, EDH, fos, syndrome. ‘Seen in ASD : Hypertrophy of right atrium & rigth ventricle, pulmonary plethora, pulmonary hypertension, let to right shun split & fixed S, . ‘Not seen in ASD: Left atrial enlargement, CHF right to left shunt/ shunt murmur, infective endocarditis. ‘Most common ASD : Ostium secundum type. In ASD, aorta is: Small. — ASD with mitral stenosis: Lutembacher syndrome. True about VSD: Membranous most common, left to fight lie murmur, wide split S,, left atrial & left venticle hype ‘trophy, CHF, endocarditis common, pulmonary pleth F spontaneously. Improvement of CHF in a large VSD is due to: : Development nastier ‘changes in pulmonary circulation, Clubbing in a patient with VSD suggests: infective endocarditis Differentiating feature between ASD and VSD on chest X-ray : Size of left atrium (enlarged in VSD but not in ASD). In PDA connection is between : Aorta and pulmon ‘i: © Ductus arteriosus forms: Ligamentum arteriosum in post-natal life. © Patency of ductus arteriosus causes: Machinery Munmunl lll = © Symptoms of PDA are similar to : Aortopulmonary window. ‘© PDAismore common in: Females. ay. important features of PDA : Continuous (machinery) murmur, pulmonary plethora, left atrial and left ventricle enaligemem# adoxical split of S, * Complications of PDA: CHF, infective endocarditis, pulmonary hypertension ‘chest infection Eisenmenger syndrome, aneurysmo'?* Most common cause of death in PDA: CHF {most common) followed by infective endocarditis. * Mediators which maintain patency of ductus arteriosus Prostaglandins. mn SS ¢ Drugs used to maintain patency of PDA: Prostaglandin, (misoprost,rioprostl) © Closure of PDAis stimulated by: Prostaglandin inhibitors, ie. NSAIDS (most commonly nGometheciny: * Constituents of TOF: VSD, overiding/dextropesed aorta, right ventricular hypertrophy, pulmonic stenosis (ifunibules 6°" © Constituents of Pentalogy of Fallot : Components of TOF plus ASD, Most common site of pulmonic stenosis (right ventricular outfow obstruction) in TOF: Infundibular stenosis. és tnt mere cg ma Wot seen in TOF: CHF, shunt mucmut, ae chest infections, ’ PS, AS. . a . «Boot shapted (coueran sabot) heartls “ligt = «Drug which shouldbe avoided n TOF: woprenaline. ae a « Blalock-taussig shunt Is between :S ‘e Pott’ shunts between: Descending aorta cate Left ventricle: - i ‘e Important features of tricuspid atresia: Cyanosis since birt opty ™ jeft axis deviation, pulmonary oligemia, Piers leno = ; ert single S, left ventricular hYP WhePfibstein anomaly: Downward displacement of tricuspid vah Ecce: a, ‘usp valve ight atrial elation, systolle ad diastolic murmur with jated with(@W/PW syndron te Frienmay be associated itHQRW sy idronm: Ebstein anomely — <— Se Pepigin transposition of great arteries (TGA): Ante: =e Paar bith int seguun ons erp © Be cries saan OF shat ‘about SUF single S, , pulmonary plethora, ‘Egg on side’ on X-ray. FTCA includes: RGE, Rashkind atrial septostomy, arterial switch wotruncal defect: TGA procedures (Mustard & senning of Jatene) ‘of TAPVC : Supta-cardiac (Type 1). mmon co” mo saturation is higher in pulmonary arter sbivaer aa eg acum totaal tone ease ae a pulmonary venous blood reaches pri, atrium flows through patent foram¢ (D (but ngxXVSO). i eonfiguration or snowman appearance on chest X-ray: TAPVC (supracardiac type) 7 ‘complexis common in: VSD. senmenge! Bs af events in developemtn of Eisenmenger complex in VSD : Left tori Peon > right to left shunt. eft to right shunt > right ventricle hypertrophy > Pulmonary Sytantsigns of impending Eisenmenger’s syndrome: Loud P, , single S, , parasternal heave, pulmonary ejection clicks Grahm steel Sjéctures of Eisenmenger syndrome : Dilation of central pulmonary artery with peripheral pruning. lation of thrisk of Mlin a neonate : Anomalous origin of coronary artery. ‘faorta (CoA) is common with : Turner syndrome. ce Is associated with :Bicuspid aortic valve (most common), Aortic stenosis, ASD, VSD, MR eoaeed Pulmonary stenosis, i site,g£COA: Just below origin of left subclavian artery. fing in CoA is seen at : Inferior border. Fptchng is due to: Enlargement of collateral vessels (especialy intercostal vessel) sels involved in CoA : Internal thoracic, intercostal, subclavian, superior &in is choracterized by : Weak/absent pulses in lower limb (femoral artery) compared tO claudication, headache, dziness, hypotens! portant causes of death in CoA CHF, aortic dissection. cerebral hemorrhage it fective Sr hypertension i HDs £PS without VSD, TOF, CoA, TG, Hypoplasticleft heart Ktusindependent CHDs : TAPVR, Truncus artetios “arteriosus, anomalous xii of tft coronary atey/fom hec disease with ejection SiN ae poe sD, to iceich isassociated with: truncus arigfosus TOF fleorelicommonly present as: Compression of aches, nest cause of CHF in infants ; Congenital heatt disease ‘of CHF in older children: Rheumatic hs art disease. Causes of CHF in first week of life: tof choice for CHF in children : ACE inhibitors: ticfeveris: Not a communicable disease (ts ani F Occurs ater streptococcal phanaitsaet 15 _ pulterain RF diagnosis :Carditis, arthritis, chorea subcutaneous nol ei ythema F diagnosis Fever arthralgia previous on valve involved in RF: Mitral valve. tation of CoA : Intermitten' mune mediated damage). F ; Mitral reguratAil‘omega shaped &large epiglotts larynx extend... large tongue, hest wall. HUlly pretimonitls, eternal com, ‘Of stridor in children : Croup, epiglottitis, laryngomalacla, vascular ring, vocal cord palsy, subglottic jy. man, of stridor in infant and young children : Larynomalacia, Most common congenital ‘abnormality of larynx: Laryngomalacla. . Rte oftayngomoioc “Inspiratory intermittent stridor more promingntio supine position and releved in prone po»), Omega shaped epiglotts is seen in: Laryngomalacia, — itistimentortenmaomaiaca ‘Only reassurance that its a self limiting condition. = Acute onset of cough, dyspnea and stridor ina child is mostly due to Foreign body aspiration. & Commonest sign of intrabronchial foreign body ina child: Cough. ® _ Immediate management of foreign body aspiration in lower respiratory tact (ég.ung/bronchi): Rigid bronchoscopic removal I) Mostcommon cause of stridor shortly after bith; Laryngomalal Seal barking like croupy cough is characteristic of:Lstyngotracheobronchitis (croup). ‘Mest common cause of croup (laryngotracheobronchits): Parainfluenza Vitus type 1. Other causes of croup : RSV, influenza: virus, adenovirus, rhinovirus Typical presentation of croup: H/o URTI for 1-3 days followed by barking cough, Inspiratory stridor which is aggravated by cxyng Teatment of choice for croup: Dexamethasone .\2 pect 18 coe ie Other measures in treatment of coup : ons vaaa rnebulized epihephrine,heliox (helium plus O,) ‘Drugs which have no role in croup: Antiotes, sedatives, opiéids (morphine). X-ray sign of croup: Steeple sign : ‘Most common cause of epigiottitis :H, influenzae 5 Be ealwcsee” Conan Radiological signs of epiglottitis: Thumb sign, valleculasighi ‘Most common cause of bronchiolitis: SVS Pyspnea.wheszing, bilateral crepitation with bilateral hyperinflation on chest X-ray is seen in Bronchiolits. Treatment of bronchiolitis includes: Humid atmosphere, Q,, bronchodilators, antipyretics, aerosolized ribava Aerosolized ribavarin is drug of choice for: Acute bronchiolitis (caused by RSV), ‘Drug with no role in treatment of bronchiolitis : Morphine, Most common cause of pneumonia in children: RSV (me Cus) followed by inferiza Virus (as 2 me cause). Commonest cause of bacterial pneumonia in children: Streptococcus pneumoniae (Pneumococcus), Virus causing pneumonia in children; RSV, influenda vir, edeRevins,paralfluenza vitus, thinovius. Not a cave of viral pneumonia: Mumps virus. Preumotacele i seen in pneumonia with: Staphylococcus aureus (most common) Primary giant cell pneumonia (Hecht’s pneumonia) is caused by : Important causes of lung abscess: Staphylococcus, pneumocoecus) Klebsiella ‘Most common cause of pneumotharax, emphyema, lung sur {drug of choice) less commonly by E. coli and klebsiella. E.coli, Hinfluenzae, pseudomonas. Lobe of lung most commonly Involved in aspiration: Important features of childhood asthma : Raised |g mild exercise. 3 5 © Nota feature of childhood asthma :Ralsed 19G (IgE is raised), " 7 . ‘Most characteristic clinical feature of asthma Wheezing, “" Ng on Nota feature of asthma Clubbing : rug of chole for asthma inches Shr eng ala iia - :Spice for exercise induced asthma: Inhaled B,-agonist. sed in treatraent of asthma: Sedatives, opioids. _ sentation of bronchiolitis obliterans : Moderate fever, mi tatio a , mild dyspnea and nonproducti ich i initially, but loping high fever, severe dyspnea, productive cough with hyperluceny on ay Le ee ee Rees E Ne fo cystic fibrosis most likely to develop : Mleconium ileus, is is :AN. autosomal recessive disorder due to mutation in CFTR gene on long arm of chrom n infecting organism in cystic fibrosis : Non-mucoid pseudomonas. AeK> 52s mucoid pseudomonas. ~ est ofchoice in cystic fibrosis :Transepithelial nasal membrane potential difference. most commonly associated with : Fibrocystic disease of pancreas. ’ q a7 al multiloculated, often infected, only 15% occur in lung pulmonary veins (0 ry sequestration : Lesion does not fill on bronchography ts of Kartagener's syndrome : (i) Bronchiectasi, (i) ‘Sinusitis. (i) Situsinverus (Winteci' a s syndrome is a subgroup of: Primary ciliary dyskinesia. — on posterior mediastinal mass in children : Neurogenic tumor. jon cause of ASOM. in chil Idren : Streptococcus: pneumoniae. mo cause ofacute bronchitis (not bronchiolit s te piratory symptoms improve on crying nmon pulmonary tumor in children : Carcinoid. ‘bronchogenic cyst: Mostly in mediastinum near carina, ly of lung sequestration : Aorta or its branches. age of pulmonary sequestration IVC (extrapulmonary sequestration),SUMMARY OF CHAPTER IN ONE LINERS (QUICK REVISION FOR NBE PATTERN) Dribbling and regurgitation after feed, respiratory distress, frothing & bubbling at mouth in a neonate : Tracheo-esophageal fistula. Congenital hypertrophic pyloric stenosis (CHPS) usually presents : After 3 weeks (but may be as early as 1 week). Metabolic derrangement in CHPS : Hypochloremic alkalosis with paradoxical aciduria and hyponatremia. Non-billous vomiting with palpable mass in epigastrium : CHPS. Ramstedt operation is done in : CHPS. Most common cause of acquired megacolon : Chagas disease. Hirschsprung disease is due to : Defective migration of neural crest cells into mesodermal layer of gut. Most commonly affiected region in Hirschsprung disease : Rectosigmoid region. Typical presentation of Hirschsprung disease : Delayed passage of meconium. Initial (screening) test of choice for Hirschsprung disease : Rectal manometry, Definitive diagnosis of Hirschsprung disease is made by : Rectal biopsy. Biopsy findings in Hirschsprung disease : Absence of ganglia & ganglionic cells with thickeping & hypertrophy of nerve trunk, Dilatated segment of bowel in Hirschsprung disease is : Proximal to affected (contracted) ) segment. Most common cause of intestinal obstruction in a neonate : Jejunoileal atresia (me) followed by duodenal atresia (2° Most common cause — intestinal obstruction in children : epee Most common ‘small bowel ion ina B Most common cause oy abdominal distension in intesti tinal obaraetone + Swa lowed air 1 re = Investigation of choice of volvulus neonatorum with si Likely cause of Intussusception ina child : Peyer's patch hypertrophy. — Bloody current jelly tool, abdominal distersion, sausage shaped palpable Inflammatory bowel diseases (IBDs) in children: Crohn dideas (regional lets) ulcerative cosa Commonest site of involvement in CD; Distal ileum, followed by distal i mes a Skip lesions are seen in : Crohn's disease, ian common). Pseudopolyps and toxic megacolon are features of ; Ulcerative colitis> Lead pipe appearance on barium enema is seen in: Crohn's diseaca‘a neonate : Multicystic renal dysplasia. tumor or multicystic renal dysplasia. ic syndrome. in 3 to 6 years: Minimal change disease causing nephrot A nilateral renal dysplasia). disease in infancy : Multicystic dysplastic kidney (UI dey disease (CPKO) is acquired as : Autosomal dominant. eT ier au (ons of CPKD : Maternal oligohydramnios, pulmonary hypoplasia, hepatic cysts Osis, biliary atresia, Portte, nalagenesisis associated with: Single umbilical artery. st Common site of opening of ectopic ureter in males: Posterior (prostatic) urethra. features of nephrotic syndrome: Proteinuria (>3.5 arv/d), hypoalbuminemia, edema, hyperlipidemia, lipiduria, [2 Proteins decreasedin nephrotic syndrome: Transterin, Al, ceruloplasmin, cholecalcferol binding protein, thyroxine binding globui, ed in nephrotic syndrome: Fibrinogen. [® Cause of edema in nephrotic syndrome : Hypoalbuminemia, ‘oF edema in nephrotic syndrome: Salt (sodium) and water retention. © Finnish type of congenital nephrotic syndrome is due to mutation in : Nephrin protein coded by NPHS1 gene. favolved in congenital steroid resistant nephrotic syndrome NPHS2 which codes for protein podocin. ® _ Most common cause of nephrotic syndrome in children Minimal change disease (Lipoid nephrosis). [Eat iriereScopy finding in minimal change disease:No nding * Electron microscopy findings in minimal change disease :Loss and fusion of foot processes of epithelial cells, finding in minimal change disease : No immune complex deposition. © Presentation of minimal change disease Selective proteinuria & edema, [EN Betresponse to steroids seen in: Minimal change disease lipid néphrSSBll ll © Characteristic feature of nephritc syndrome in children :RBC casts in urine. [© Marker torrenal vasculitis children: IgA level PR sy * _Hematuria with dysmorphic RECs in urine 2 days after an attack of upper respiratory tract infection :lgA nephropathy. 19) PsP is characterized by deposition of IgA in vessel wall and in mesangium. 5 © _ Classical tetrad of HSP:: Palpable purpure, abdominal pain, athralgia/arthriti, glomerulonephy © Nota feature of HSP: Thrombocytopenia Sor ~ a i © Renal involvement is not seen in HSP: After 4 months of onset of other symptoms, se * Treatment of pauctimmune GN in children :Contcosterids (prednisolone) with ot without cyelophosphem@eBPazathioprine. Triad of hemolytic uremic syndrome: Anemia renal failure T BUN, 7 creatinine, oliguria) and thrombocytopenia, «© Most common cause of HUS : Gastroenteritis by E. coli (EHEC). | ~ LL. ‘Characteristic peripheral smear findings in HUS : Fragmented RBCs (shistocytes), hélmet cells, burr cells. ‘Most common caus of urinary tract obstruction ina mole infant: Posterior urethral valve. waa Important features of posterior urethral valve : Hydronephrosis, distended bladder, recurrent UTI, vesicoureteral reflux in 50%. Investigation of cholcefor poor urinary stream since bith ‘Veidhgeystourethwography, ae ea) Most common cause of acute retention of urine in a male child: Meataluleration wth scabbing, ‘Most common cause of chronic retention of urine ina male child: Posterior urethval valve.) aS. ‘Method of choice for a newborn not passing urine: USG ‘Achild with non-functional Kidney, best evaluation : DTPA scan NN a ae Dynamic scan for renal function : DTPA scan, renogram or MAG3 Statie scan for evaluation of ‘structure’ of kidney :DMSA Sa Best method for treatment of renal stone > 0.6 cm ina child : Extracorporal shock-wave lithotripsy (ESWL) ‘Most common cause of renal artery stenosis in children in India :Takayasu arteritis, a ‘Most common cause of renal artery stenosis in children in developed countries: Fibromuscular dysplasia. ‘Most common cause ofrenal vein thrombosis (RVI) in children ; Nephrotic syndrome due to minimal cha Gig Se Ulli eee ee eee eleant prognosis : Seizure due to hypocalcemia.sosenc Seizure is also called: Petitmal epilepsy (minor epilepsy) Jigetinportant features of absence seizure: Seen in childhood (4-8 ye postictal confusion. rug of choice forabsence seizure (petitmal epilepsy) Vi ars), precipitation by hyperventilation, 3 Hz spike-wave on EEG, no alproate (ethosuximide is an alternative), Brig of choice for simple partial seizure: Carbamazepine, jnitial durg of choice for status epilepticus : Lorazepam, ernigS sign is seen in: Acute bacterial meningitis, 'Mastcommon presentation of neonatal meningitis: Refusal to feed (poor feeding) JMostcommon complication of meningitis in children : Seizures. Residual auditory difectis seen in meningitis by :H. influenza. Jwestigation required in H. influenzae meningitis: ABER/BERA, GF findings in TB meningitis : Elevated CSF pressure, Rea lymphocytes, normal/slightly raised protein, de Jw chloride. “eatment of choice for H. influenzae meningitis Third generation cephalosporins Treatrpent of choice for meningococcal meningitis: siemens for penicillin sensitive strains. A Child with meningitis showing basal exudate and hydrocephalus on CT, ‘© Important complications of TB meningitis : Hemiplegia/quadriplegia, cranial nerve palsies hem balistae Bea decorticate rigidity. [Pera complication of TB meningitis: Parkinsonism. § Most common cause of meningoencephalitsin children : Enterovirus. [BiRinong herpes simplex viruses, neonatal encephalitis coused most often by HSV2u) NNN. ak Je Most brain tumors in children are: Infatentorial. [PMs commen brain tumor intracranial tumor in children :Cerebelar serra sl J Most common posterior fossa tumor in children: Astrocytom (cerebellar astrocytoma). (Pi Btin wimor associated with best prognosis in children : Cerebellar astrocytoma \®Importantposterior fossa tumors in children: Cerebellar astrocytoma (mc), medulloblastoma (24m (incensed signs of Tin brain tumor : Midline posterior fossa tumor. ‘Midiine swelling arising from cerebellum : Medulloblastoma. |# Most common type of cerebral palsy: spate CP ch sbral palsy commonly associated with | True about status marmoratus: Seen in athetoid CP b bilateral due to as eb Infarction (vascular esion)postinflammatory due to if ( Cause of communicating (non-obstructive) hydrocephalus : Subarachnoid hemorrhage (mo), 2" mc). common cause of of fetal ventriculomegaly : Aqueductal stenosis. ant features of pseudotumor cerebri: Raised ICT, normal ventricular size, normal CT & MAI, no focal neurological deficit. r ugs causing pseudotumor cerebri: Tetracycline, nalidixic acid, nitrofurantoin, steroid therapy or withdrawal. des of mental retardation : Mild MR (IQ 51-70), moderate MR (IQ 36-50), severe MR (IQ 21- -35), Profound MR genetic cause of mental retardation : Down syndrome. ® Preventable cause of mental retardation : Hypothyroidism/cretinism. a. Salicylates (aspirin) can cause : Reye's syndrome. e Viruses causing Reye's syndrome : Influenza, varicella (Herpes virus-3), echovirus, adenovirus, coxsackievirus, EBV. Characteristic feature ‘of Reye’s syndrome : No jaundice (bilirubin is not raised) despite dysfunction of liver. “® Important findings of Reye's syndrome : Hypoglycemia, Hypoglycorrhoea, ? PT, SGOT/SGPT/LDH, normal bilirubin & alkaline phos- phatase, hyperammonemia, mixed respiratory alkalosis with metabolic acidosis. “@ Brach) Brachycephaly is due to early fusion of : Coronal suture, ® Most common tumor associated with NF-1 : Optic nerve glioma. (© Mostcommon Jeukemia in NF-1 : Juvenile myelomonocytic leukemia. ® Triad of seizure, mental retardation and adenoma sebaceum is seen in : Tuberous sclerosis. im _ Midline incracranial mass with bruit, CHF and hydrocephalus suggest diagnosis of: Vein of Galen malformation. Interventricular hemorrhage can be prevented by: Antenatal administration of Vitamin K. “Banana sign in fetal brain is seen in : Spina bifida, Chiari I! malformation. © Inheritance of neural tube defects : Multifactorial. ® Porencephaly is seen in: Dany-Walker syndrome.n essential amiNot achildhood tumor: Ameloblastoma, Wastofthe ALL are: B-cell origin (Precursor B-cell) True about ALL : Pancytopenia with hepatosplenomegaly. Presenting with mediastinal mass :T-cell ALL. ‘ALL L, arises from : Mature B-cells. Asparaginase is used in : ALL . x Most common extramedullary site for relapse of ALL : CNS. - Prophylactic methotrexate for CNS prophylaxis ALL. ze ee ‘Non-specific esterase is positive in: AML (Monocytic differentiation : M4, M5) Chloromais seem in AML. ‘Most commonly used treatment for AML: Cytarabine plus daunorubicin. Juvenile CMLis : Philadelphia chromosome negative. Increased fetal hemoglobin is seen in: Juvenile CML. “Transient myeloproliferative disorder of newborn is associated with: Down syndrome. Predisposing factor for AML : Down syndrome, inefeter syndrome, Patau syndrome, Siocen syea Ataxia telangiectasia ‘Most common site of neuroblastoma: Adrenal medulla, | ‘Neuroblastoma is a tumor of: Autonomic sympathetic system. Palpable abdominal mass, a Cancer of childhood metastasizes to bone : Neuroblastoma. (Opsomyocioniéis a feature of: Neuroblastoma NS Good prognostic indicator for neuroblastoma : Age < 1 year, hyperdiploidy, Trk A expression, stage 1/6 2 Proptosis, bony metastasis and sutural diastasis ina child: Neuroblastoma, = Calefcation in neuroblastoma! common and punctate. Maa oe) or it a ei Histological type of Wilm’s tumor metastasizing to. ‘bone ‘Clear cell sarcoma. ‘Most common presentation of Wilm’s tumor: Asymptor The most important determinant of prognosis of Wilm's tumor : Stage of dise Treatment of choice for Wis tu “Surgery of choice for Wins tumor :Transperitoneal radical nephrectomy (ra Aortic/IVC invasion is seen in: Neuroblastoma ( Histiocytosis-X includes: Letter-siwe disease, Hand-schuller-christian d Seborrhic dermatitis, polyuria, hepa ‘Multiple permeating lesions in bones in child: Histiocytosis X ‘Drug used for refractory histiocytosis: Cladari Teeny cern enaPrevent sickling, hibit polymerization, eae 6 shows : ee = On Hb electrophoresis : HbS moves slower than HbA towards positive electrode. aa fetes : : aaa 5 Insickle cell anemia trues : Autosplenectomy due to thrombosis and infarction. |cause of osteomyelitis in sickle cell anemia : Salmonella: “* Xsayin site cellanera Crew haircut appearance of skull and fish mouth sth vertebrae. +Falciparum malaria. m © Gamma Gandy bodies are seen in: Sickel cell anemia, CML, Cirrhosis. a Sh mon in : Bengal, Assam, East India. © Mutation in thalassemia: Mainly point mutation (missense mutation) causing aberrant splicing. [© in Bthlassemva chain absent: folobin chain © _Ina-thalassemia chain absent :a-globin chain. [SFM raised in: thalassemia ait, —— © HbA, concentration in B-thalassemia trait :> 3-59. [2 RbF is highly raised in : thalassemia major cooley’ anemia). Brthalassemia is diagnosed by : Hb electrophoresis. 18) NESTROET testis used for: Screening of f-thalassemia frat © Osmotic fragility in thalassemia : Decreased. ~ HbH disease is due to: Three alpha genes deltion, Thalassemia trait provides protection em falciparum malaria. AGead born vith hepatos fénomegaly and Géréralized edema o;thalassemia (hydrops due to Hb Bart) | © Death in Hb-Bart'sis due to: Very high affinity of Hb for O, (cannot release ,). "© Hair onend appearance on skullx-ray Thalassemia, SCA, HS, G6PD deficiency,” © Earliest hemoglobin to appear: Gower-1, Gower-2, Portland (embryonit hemoglobins). '® Fetal RBCs (as compared to adult RBC) : Alkali denaturation resistant, less 2, 3 DPG, less iron, larger volume) short lived, ° . Bite cells seen in: G-6PD deficiency. Erame eter cig here tcaneie: Geet pvt ive, dss sins” NTN ‘Most severe form of G6PD deficiency : Type-3. © Iron is absorbed from : Duodenum 5 © Earliest indicator of iron deficiency anemia : Decreased ferritin. “¢ Anemiain iron deficiency : Microcytic hypochronic. Earliest response to therapy in ron deficiency anemia : Diminution of fatigue and irrita aaa '® Laboratory finding in Von-Willebrands disease : Prolonged aPTT and BT with normal PT. | aoe nang esi Paranhos? SNR © Hemophilia A is due to deficiency of : Factor Vill. “Christmas disease (Hemophilia B) is due to deficiency of: Factor IX. ae © Hemophilia A inheritance : X-linked recessive, ‘¢ VorrWillebrand disease, most common inheritance ; Autosomal dominant, ¢ Vor-Willebrand factor, major source : Vascular endothelium. RR + leniensdzocts: neve ent ETE © Bleeding from umbilical stump in newborn : Factor Xill deficiency. (+ Nocinicalbeedigin defen ofsEator HNWkinagenrekaicen, RN ‘@ Hemorrhagic disease of new born is due to: Vitamin K deficiency,jicdisease of newborn is more common in: Bre ‘ Hemorrhagic sores ees neveuoniican be prevented by ; Parenteral vitamin K at birth. Pa we thrombasthen/ Congenital defect in platelet . Not seen in ITP: Splenomegaly. atelets bodies, by respiratory Infection, spont @ Chronic iTP: More common in females, spontaneous remission is uncommon. ° Teaten‘ofynotonat conta pbatheri: Partial exchange transfusion. ~~ sendvourene ptm rere 910m oe 00 mi/kg). frome sta eek - om I) Nemo ® Pediatric polycyther range i © Constitutional pancytopenia fs seen ii Sn a mond-Blackfan syndrome). Y ® Macrocytosis in not seen in: Thalassemia, copper deficiency. a ® Quinine causes thrombocytopenia: Antibody mediated. =I female development 1 ashydroxlase deficiency Salt retaining, male pseudohermaphroditis, norma fF congenital adrenal hyperplasia there is: Hypoglyeer|a- 1a vrlizing form. Dees of21hycoxyase decency associate with nomalBP and no sltoss: Sip BNW rcronfone decency ne ‘s increased level of: 7-hydroxyprogesterone- deer /Perkalemia, yponatremia with normal genitalia in female: Aldosterone soca ld Stree BH tprevouschi wen ca, ug ein enter ioeametioone © Karyotype of androgen insensitivity syndrome 46 XY. ‘Gene involved for primitive gonad to tests differentiation : SRY gen Serene stimulating moe etal gonads to produce testosterone: Placental. Most common cause of delayed puberty: Constitutional. © LowL, FSH and: testosterone with delayed puberty : Kallman’ syndrome. © Nota feature of hypothyroidism: short metacarpal. * 5 * _ Short stature in hypothyrodisim : Disproportionate (Upper segment > Lower segment) ie. short limb short stature. * Multiple epiphyseal breaks, wormian bones, growth retardation, and mental retardation : Hypothyroidism. * _ Most common cause of congenital hypothyroidism :lodine deficiency. * Most common cause of congenital hypothyroidism in non-endemic area : Thyroid dysgenesis. * _ Thyroid dyshormonogenesis causes: Congenital hypothyroidism in presence of goitre, Low T,and raised TSH : Primary hypothyroidism. Low T,and TSH: Secondary hypothyroidism due to pituitary cause. * Blood specimen of choice to screen neonatal hypothyroidism : Cord blood at birth. . Pendered syndrome: Diffuse goitre which later becomes nodular, mental retardation, bilateral sensorineural deafness * Congenital hypothyroidism always has :Goitte. ® Nota feature of GH deficiency : Short stature since birth (birth weight and height are normal). ® GH deficiency causes; Delayed fusion of epiphysis, porportionate dwarfism, * Weak giant are produced by : Pituitary adenoma. * Achild with growth retardation, hypoglycemia, short stature, increased fat, high pitched voice, micropenis : Hypopituitarism © Orchidopexy for undescended testis should be done at :6 months, © Dose for oral GITin a child: 1-75 gm/kg upto a maxim of 75 gm (adult dose), * Fundoscopy in IDDM is recommended: 5 years after the onset of disease. © Fundoscopy in NIDDM is recommended: At the time of diagnosis, * Inacute onset ofpanhypopitutarsm(alpitultary hormone) frst hormone to be replaced exogencusly:Corticosteroids (hydrocrtsc®. followed by growth hormone. Highest ACTH and cortiso secretion Is seen: Eatly morning, # Earliest feature of cushing’s syndrome: Loss of diurnal variation in secretion of cortisol. © Nephrogenic diabetes insipidus is due to: Insensitivity of ADH receptors in renal ‘tubules, © Central diabetes inspidus is due to : Decreased ADH production, © ‘Wolfram syndrome'is characterized by Diabetes inspidus,dlabetes melts deafness optic atrophy. © Mother exposed to dethystilvestol during pregnancy cuses: Vaginal adenosis clear cell adenocarcinorna;tubal and utedre 2 abnormality; infertility; habitual abortion, 7 # Cortisol deficiency in congenital adrenal hyperplasia is treated by Hydrocortisone: (for prenatal prevehtion dexamethasone given *# Hormones affecting growth GH, thyroxine, insulin, Gonadotropins (LH & FSH) and sex steroids at puberty. # Treatment of choice for childhood thyroxcoss: Oral bypoglycermcs (Methimazole/prSpsit ° ge ib coral Cafe-aurtalt spots, polycystic fibrous dysplasia of skeleton, precocious pube*Y> NDE icen Distal mt e __ Defect in Duchenne musculardystropty : Sarcolemmal proteins. © Most common chronic arthritis |e Ageciteria for JRA:< 16 years. © Criteria for JRA: One or more joints, < 16 years, > 6 weeks. . Beeson per SAS © Drug causing Phacomalia: Thalidomide. is Infantilecoxa vera: Blount's disease. ee © Multiple recurrent fractures with normal healing: Osteogenesis s imperfecta . Multiple fractures with various stages of healitvigree analysis chart is “used for: ihastration the inheritance of genes ina family. Chances of having unaffected baby when both parents have autosomal dominant disease G5 Chances of being affected if one parents has autosomal dominant disorder 50%. Chances of having disease ifone parent is having autosomal recessive disorder and other parent is carrie! 50%, Chances of having diseases if both parents are carrier of autosomal recessive diseas 125%. Chances of having disease if both parents.are 2 affected by autosomal recessive disease: 100%. rav.ces of having disease if one parent is carrier for AR disease and other is normal : 0% (50% seit be! cartier), Not an autosomal: dominant disorder | ‘abry's diseas Qnily males are affected : X-linked recessive. Fathers not transmitt the disease toson: X-linked, 5 iMothers not transmitt the disease e tod daughters : X- -linked recessive, Father transmitting disease to all daughter : X-linked dominant. Mother transmitting disease to all sons : X-linked recessive. Mother transmitting disease to halfsons:X-linkeddominant. - 5 =. Se Only males are affected and females act as carrier : X-| linked recessive. ; _ : Differential expression of same gene depending on parent of orgin: Geninicimodnting ) Functional gene is inherited from one Parent : Genomic imprinting, Vaterngl 15, deletion or Maternal 15 disomy: Prader Willisyndrome.. aS Maternal 15 deletion or Paternal 15 disomy: Angleman syndrome. Obesity with mental retardation ; Prader will syndrome. i a Mother transmitting disease to all children ; Mitochondrial disorders. Both males and females are affected but males do not transmitt the disease: Mitochondrial disorders, Common ocular finding in trisomy 13 (Patau syndrome) ; Bilateral microphthalmoses in | r resistant falciparum malaria