Paediatrics Revision E6.5.pdf

Paediatrics Revision 1 01 1 PAEDIATRICS 1 ----- Active space ----- Normal growth...

Paediatrics Revision 1 01 1 PAEDIATRICS 1 ----- Active space ----- Normal growth 00:00:14 Anthropometry : 1. weight : Average birth weight → 3 kgs. Weight loss (Normal) : D/t loss of fluid from ECF compartment. Weight loss % (upto) Regains birth weight by : Term 10% 10 days Preterm 15% 15 days Weight increase pattern : Age Increase First 3 months ↑ by 20-30 g /day Till age of 1 year ↑ 400 g /month In 5-6 months Doubles In 1 year Triples In 2 years Quadruples 2. Height/length ( + 2 SD High value 97th 85th 50th -2 SD to +2 SD Normal value 15th (3rd-97th centile) 3rd 4 cc. Growth spurt occurs later in males, but height increase is more in males → Final height more in males. Sexual maturity rating (SMR) by Tanner : Based on 2° sexual characteristics. Stage 1 (Pre-pubertal) to stage 5 (Adult like appearance). Growth spurt in females : stage 3, in male : stage 4. Disorders of Growth 00:20:55 Short stature : Height/Age < 3rd percentile or < -2 SD. Most common type : Normal variant with normal growth velocity. Types of normal variant short stature : Constitutional delay Familial short stature Adult height Normal Short Puberty Delayed Normal age Bone age Delayed Normal Overall m/c cause of short stature & delayed puberty : Constitutional delay. Upper segment (US)/Lower segment (LS) ratio : US → Distance from head to pubic symphysis (Trunk). LS → Pubis to foot (Legs). Age Ratio At birth 1.7 : 1 At 3 years 1.3 : 1 (LS grows faster after birth) At 7-10 years 1:1 > 10 years 0.9 : 1 Paediatrics Revision v1.0 Marrow 6.5 2023  Paediatrics Revision 1 01 5 Approach to short stature : ----- Active space ----- US : LS ratio Normal Abnormal Proportionate short stature Dis-proportionate short stature All normal variants (Constitutional delay & familial short stature). Malnutrition cases. GH deficiency. Short trunk (US) : D/t Vertebral involvement : Short limbs (LS) : Spondylo-epiphyseal dysplasia. Achondroplasia. Hemivertebrae. Rickets. Mucopolysaccharidosis. Congenital hypothyroidism. Pott’s disease. Microcephaly : Causes : Affecting brain growth. 10/Genetic microcephaly : 20 microcephaly : Anomalies of brain (Anencephaly). Pre-natal : Teratogens. Genetic disorder (Trisomies, Peri-natal : Asphyxia. Down’s syndrome). Post-natal : Infections. Fetal alcohol syndrome : Fetal hydantoin syndrome : VSD CVS defect : VSD. Due to phenytoin Paediatrics Revision v1.0 Marrow 6.5 2023  6 01 Paediatrics ----- Active space ----- Rett syndrome : Loss of previously acquired milestones. Hand wringing movements (Stereotypic movements in midline area). Usually develops normally in 1st year → develops microcephaly and develop- mental regression. Other : Speech defect and ataxia. Associated with : MECP 2 gene defect. Macrocephaly : Causes : ↑ CSF : Hydrocephalus (overall M/C). ↑ Bony compartment : Thalassemia, Osteogenesis imperfecta. ↑ Brain tissue/Megalencephaly : MPS, Leukodystrophy (Alexander and Canavan’s disease). Hydrocephalus : Normal amount of CSF : 150 ml in adult; infant : 50 ml. Features : Macrocephaly/abnormal ↑ in HC >2 cm/month. Bulging of anterior fontanelle. Prominent scalp veins. d/t ↑ ICT Sun-set appearance of eye (visible upper sclera). Crack pot resonance. Congenital hydrocephalus : Causes : 1. Aqueductal stenosis (between 3rd and 4th ventricle) : M/C cause of congenital hydrocephalus. Dilated 3rd and lateral ventricle. M/C cause of fetal ventriculomegaly. Aqueductal stenosis 2. Dandy walker malformation : A/w dilated posterior fossa → Prominent occiput. Lower part of 4th ventricle is obstructed. Cerebellar hypoplasia. Management of hydrocephalus : Ventriculo-peritoneal shunt (V-P shunt). Dandy Walker malformation Paediatrics Revision v1.0 Marrow 6.5 2023  Paediatrics Revision 1 01 7 Disorders of Puberty 00:44:23 ----- Active space ----- Definition : Males Females Delayed puberty : Absence of 2° sexual 14 yrs 13 yrs characteristics even after Precocious puberty : Appearance of 2° 9.5 yrs 8 yrs sexual characteristics by Delayed puberty : M/C cause overall : Constitutional delay. Other causes Central cause Peripheral cause CNS related (Pituitary & hypothalamus). Immature gonads : Syndromic associations : Kallman syn- Turner’s syndrome (Streak ovaries). drome (A/w anosmia). Klinefelter syndrome (Cryptorchid- ism). Precocious puberty : M/C cause : In girls : Idiopathic, boys : Organic. Precocious puberty Central Peripheral CNS (Pituitary & hypothalamus related) Functioning tumors of ovary or testis. Eg : McCune albright syndrome (triad) : 1. Hypothalamic hamartoma. 1. Precocious puberty (ovarian cysts). 2. Gliomas. 2. Cafe-au-lait macules. 3. Polyostotic fibrous dysplasia. Developmental milestones 00:49:30 4 domains of development : Gross motor. Fine motor. Language. Social. Paediatrics Revision v1.0 Marrow 6.5 2023  8 01 Paediatrics ----- Active space ----- 1. Gross motor milestones : Rule → Development always occur in the cephalo-caudal direction. Age Milestone attained 3 months Neck holding 4 months Roll over 6 months Sit with support, Tripod posture 8 months Sit without support, crawling 10 months Stand with support, creeping Stand without support 12 months walk with support 15 months walk without support 18 months Running 2 years Climbing with 2 feet/step 3 years Climbing with 1 foot/step : Upstairs, rides tricycle 4 years Climbing with 1 foot/step : Downstairs, hops 2. Fine motor milestones : Age Milestone attained 4 months Bidextrous grasp 6 months Unidextrous grasp : Ulnar (Immature) palmar grasp 8 months Unidextrous grasp : Radial (Mature) palmar grasp 9 months Immature pincer grasp (Hold with sides of fingers) 12 months Mature pincer grasp (Holds with tip of fingers) 15 months Makes tower of 2 cubes 18 months Makes tower of 3-4 cubes 2 years Draws line, makes tower of 5-6 cubes 3 years Draws circle, makes tower of 8-9 cubes. 4 years Draws cross 4.5 years Draws square 5 years Draws triangle 6 years Draws diamond Handedness develop by 3 years. Paediatrics Revision v1.0 Marrow 6.5 2023  Paediatrics Revision 1 01 9 3. Language milestones : ----- Active space ----- Sounds → Syllables → Words. Age Milestone attained 3 months Cooing (Musical) sound 6 months Monosyllables 9 months Bisyllables 1 year 1-2 words (Meaningful) 18 months 8-10 words 2 years Sentences 3 years Recognises and tells name, age, and gender. 4 years Tells story and rhymes 4. Social milestones : Age Milestone attained 2 months Social smile 3 months Mother regard 6 months Stranger anxiety, smiles at mirror image 9 months Waves bye-bye, plays “peek a boo” 1 year Simple ball game 2.5-3 years Parallel play (Non-interactive) 4 years Group play (Interactive play) Red flag signs in development : If the milestones are not attained by the upper age limit : Evaluated for possible cause of delay in development. Milestone Upper age limit Vocalization 6 months Sitting 10 months Standing 17 months Walking 18 months Single words 18 months Paediatrics Revision v1.0 Marrow 6.5 2023  10 01 Paediatrics ----- Active space ----- Developmental quotient : Developmental quotient = Developmental age (DA) x 100 Chronological age (CA) Developmental delay : DQ < 70. Global developmental delay : Delay in ≥ 2 domains → Significant brain prob- lem (E.g : Cerebral palsy). Note : Nocturnal enuresis Enuresis alteast twice a month in > 5 years. Categories : a. 10 : Never dry since birth (M/C). b. 20 : Previously dry child. Cause : Maturational delay of bladder. Management : a. Ist line of Rx : Non-pharmacological → Motivation therapy + alarm therapy. b. 2nd line : Desmopressin (Preferred, oral), anti-cholinergic (Oxybutynin). Paediatrics Revision v1.0 Marrow 6.5 2023  Paediatrics Revision 2 02 11 PAEDIATRICS REVISION 2 ----- Active space ----- Nutrition 00:00:10 Breastfeeding : Breast milk : 67 kcal/100ml. Properties of breastmilk : 1. Nutrition : Breast milk Cow milk Lactose More Less Proteins Less (Easily digestible) More Fat Same (Rich in PUFA) Same 2. Immunological (PLAB) : Colostrum (1st formed milk) : Rich in IgA. P : Low levels of Para amino butyric acid (PABA) → Protects against malaria. L : Lactoferrin → Protects against E.coli infection A : IgA B : Bifidus factor → Protects against E.coli infection 3. Brain growth factors : i. Whey protein. ii. Taurine & cysteine. iii. PUFA : Docosa Hexaenoic Acid (DHA). 4. Micronutrient deficiencies : Vitamin K : Prophylaxis of injection vitamin K at birth. Vitamin D : Oral supplementation. Iron : Supplemented in preterm/low birth weight babies (D/t poor iron stores). 5. Storage : Room temperature Refrigerator Freezer 6-8 hrs 24 hrs 3 months Paediatrics Revision v1.0 Marrow 6.5 2023  12 02 Paediatrics ----- Active space ----- Mode of feeding in preterm babies : 34 weeks : Direct breastfeeds. HIV & Breastfeeding : 00:06:50 Absolute C/I in developed countries. Relative C/I in India (Developing countries). Exclusive breastfeeding for 6 months → Gradual cessation. Prophylaxis for breastfeeding baby : Nevirapine since birth. Cotrimoxazole : Started at 4-6 weeks & continued till 6 weeks after cessa- tion of breastfeeding. Nutritional Disorders 00:08:37 Protein energy malnutrition (PEM) : 1. Kwashiorkor 2. Marasmus Age of onset >1 year Blood) → To be done within 2 weeks of birth. Treatment : Ganciclovir. Note : High risk of transmission if mother has 1˚infection with CMV during pregnancy (More severe than reactivation). Paediatrics Revision v1.0 Marrow 6.5 2023  Paediatrics Revision 2 02 21 4. Congenital Toxoplasmosis : ----- Active space ----- C/F : SNHL, chorioretinitis, microcephaly. Few infants have hydrocephalus. Imaging : Diffuse parenchymal calcification. Diffuse parenchymal calcifications 5. Congenital Zika : Emerging infection. C/F : Microcephaly. Visual defects d/t macular scars. Arthrogryposis congenita : D/t contractures in limbs. Imaging : Subcortical calcification. Paediatrics Revision v1.0 Marrow 6.5 2023  22 03 Pediatrics ----- Active space ----- PAEDIATRICS REVISION 3 Rheumatic disorders 00:00:10 JIA (Juvenile idiopathic arthritis) : Arthritis lasting atleast 6 weeks with onset < 16 years. Oligoarticular JIA : ≤ 4 joints involved + uveitis. Polyarticular JIA : ≥ 5 joints involved. a. RF -ve : Uveitis +nt. b. RF +ve : Rheumatic nodules seen & ↑ risk of C-spine involvement. Systemic onset JIA : a. Quotidian fever (1-2 spikes/day). b. Arthritis. c. Any one of the following : Salmon rash, Hepatosplenomegaly, Lymphadenopathy, Serositis. Kawasaki disease : Medium vessel vasculitis. M/C childhood vasculitis. Stages of Kawasaki disease : 1. Acute : 1-2 weeks. Fever ≥ 5 days. Any 4 of the following : “CREAM”. a. B/L Conjunctivitis. b. Rash (Maculopapular). c. Edema. d. U/L cervical lymphadenopathy. Strawberry tongue e. Mucosal involvement (Strawberry tongue). 2. Subacute : 3-4 weeks. Complications : a. Myocardial ischemia. b. Coronary aneurysms. c. Coronary vessel thrombosis. 3. Recovery stage. Treatment : IVIg (TOC), Aspirin. Pediatrics Revision v1.0 Marrow 6.5 2023  Pediatrics Revision 3 03 23 Henoch Schonlein purpura (HSP) : ----- Active space ----- Small vessel vasculitis. Palpable purpura : In LL & buttocks. Post prandial abdominal pain & joint pain. Renal involvement : Hematuria/proteinuria. Palpable purpura Mx : Steroids. Neonatology 00:09:45 Classification of neonates : Based on birth weight : a. LBW (Low Birth Weight) : < 2.5 kg. b. VLBW (Very Low Birth Weight) : < 1.5 kg. c. ELBW (Extremely Low Birth Weight) : < 1 kg. Based on percentile charts : a. SGA (Small for Gestational Age) : < 10th percentile. b. AGA (Appropriate for Gestational Age) : 10th-90th percentile. c. LGA (Large for Gestational Age) : >90th percentile. IUGR : (SGA). Asymmetric IUGR Symmetric IUGR Incidence More common Less common Uteroplacental insufficiency Anomalies/genetic defects Cause (Maternal cause) (Fetal cause) Brain sparing effect Present Absent Ponderal index 2 Weight (g) Ponderal index = × 100. Length (cm3) Infant of diabetic mother : Macrosomia : LGA. Hyperinsulinemia. Hypoglycemia (Blood glucose Viral. Overall M.c : Streptococcus pneumoniae. M.c virus : Respiratory Syncytial Virus (RSV). In HIV infected children : Pneumocystis jiroveci. Pneumonia Management guidelines : IMNCI (Integrated Management of Neona- tal and Childhood Illness) Revised WHO guidelines Terminology Clinical Features Management No pneumonia. Fever, cough/cold. Home Mx : Paracetamol. Pneumonia. Fever, cough/cold + fast Home Management + Oral breathing ± chest indrawing Amoxicillin x 5 days. SpO2 normal. Severe pneumonia/ Hypoxia or Danger signs like : Immediate referral to higer Very severe disease. Lethargy. centre + 1st dose of iv. antibiotic Cyanosis. (Inj. Ampicillin + Gentamicin). Convulsions. Not able to feed. Additional guidelines : Child with wheeze : Bronchodilator x 5 days. If cough persists for > 14 days : Evaluate for TB. Paediatrics Revision v1.0 Marrow 6.5 2023  40 05 Pediatrics ----- Active space ----- Criteria for fast breathing : Age Respiratory rate < 2 months > 60/min 2-12 months > 50/min > 12 months > 40/min Foreign body in airway : 00:17:35 Clinical features : Small child with sudden onset respiratory distress. Fast breathing Unilateral wheeze. X ray findings : Complete occlusion : Collapse of lung fields. Partial occlusion : Hyperinflation (due to air trapping). Management : Removal of foreign body using rigid bronschoscopy. Asthma in children : 00:19:31 Etiology : allergen exposure → Bronchoconstriction. Clinical Features : Recurrent episodes of wheeze ( Minimum 3 episodes) Investigation : ↓FEV1 /FVC ratio : < 0.8 Response to inhaled β2 agonist : Improvement in features of Asthma (FEV1 ↑ by ≥ 12% ). Day to day/ AM–PM /Diurnal variation : PEFR or FEV1 ↑ by ≥ 20%. Exercise challenge (exertion) : FEV1 ↓ by > 15% or worsening the Asthma. Asthma management guidelines : Asthma Symptoms Treatment Intermittent Infrequent : 12 yrs : MDI. 4-12 yrs : MDI + Spacer. Pseudomonas). Bronchiectasis. B/L nasal polyp..GIT (occurs early) : Meconium ileus. Older children : Distal Intestinal obstruction syndrome/ DIOS → Constipation. Malabsorption → Chronic diarrhea. Pancreatic insufficiency (in 85% cases). 1. Exocrine : Steatorrhea, deficiency of vit A, D, E, K. 2. Endocrine (adult) : Diabetes mellitus (due to insulin deficiency). Liver : Cholestasis, predispose to biliary cirrhosis. Others : Male infertility : Due to B/L absence of vas deferens → Azoospermia. Sweat : Excessively Salty (high levels of Na+ & Cl-). Paediatrics Revision v1.0 Marrow 6.5 2023  42 05 Pediatrics ----- Active space ----- Diagnostic criteria : When to suspect ? Laboratory confirmation Presence of typical clinical features 2 elevated sweat chloride concentra- (respiratory/ GIT/ Genitourinary) tions obtained on separate days (>60 OR mEq/L). History of Cystic Fibrosis in a sibling. OR OR Identification of 2 CFTR mutations IRT : Immuno Reactive Trypsinogen testing (best). ( New born screening test) → +ve OR 1 abnormal nasal potential difference measurement. Rx : CFTR modulators/ Caftors : (Emerging Rx for CF). CFTR potentiator (Increase activity of CFTR): Ivacaftor. CFTR corrector (correct the basic defect of CFTR) : Lumacaftor. Paediatrics Revision v1.0 Marrow 6.5 2023  Paediatrics Revision 6 06 43 PAEDIATRICS REVISION 6 ----- Active space ----- Fetal circulation 00:00:11 Features : Oxygenated blood to fetus : Umbilical vein (one). Two umbilical arteries carry deoxygenated blood. Additional communications Ductus arteriosus Pulmonary artery & Aorta. Foramen ovale Right atrium & left atrium. Ductus venosus Umbilical vein & IVC. Order of closure : Functional closure : Umbilical vessels → Ductus venosus → Foramen ovale → Ductus arteriosus. (last to close : upto 10-14 hours) Anatomical closure : Umbilical vessels → Ductus venosus → Ductus arteriosus → Foramen ovale. (Closes 10-21 (last to close : upto days after 3 months) birth) Congenital heart defects (CHD) : Nada’s criteria Major criteria Minor criteria Systolic murmur ≥ grade 3. Systolic murmur < grade 3. Any diastolic murmur. Abnormal S2. Central cyanosis. Abnormal ECG. Congestive heart failure. Abnormal CXR, abnormal BP. Presence of 1 major (or) 2 minor → CHD Paediatrics Revision v1.0 Marrow 6.5 2023  44 06 Paediatrics ----- Active space ----- Acyanotic CHD 00:05:00 Acyanotic CHDs are more common. Acyanotic CHD L → R shunt lesions Obstruction VSD. Coarctation of ASD. aorta. PDA. Cushion defects : Atrioventricular septal defects (AVSD), usually a/w Down’s syndrome. Lesion M/c type Characteristic feature VSD Perimembranous Shunt murmur : Pansystolic murmur. (overall m/c). VSD. Heard at left 4th ICS. Parasternal area. ASD. Ostium secun- S2 : Wide fixed split. dum ASD. PDA. No types. Loud, continuous, machinery murmur : (increased Heard at left 2nd ICS. incidence in Parasternal area. preterm) Complications of L → R shunt : Early Late Recurrent pneumonia. Reversal of shunt (R → L) : Eisenmenger syndrome CCF. Manifestations of Eisenmenger syndrome : Infective endocarditis. Cyanosis. Clubbing. Least incidence of complications : ASD. Management of shunt lesions : Surgical closure. Medical closure of ductus arteriosus in preterms : NSAIDs : Indomethacin, Ibuprofen. Paediatrics Revision v1.0 Marrow 6.5 2023  Paediatrics Revision 6 06 45 Coarctation of aorta : ----- Active space ----- M/c type : Juxtaductal. Features Reduced blood flow to lower limbs Hypertension of upper limbs 1. Claudication pain. 2. Feeble femoral pulses. 3. Radiofemoral delay. Compensation : Collateral formation by intercostal arteries. Inferior rib notching : D/t ↑ in size of intercostal arteries. Cyanotic CHD 00:16:23 Overall M/C : In children : Tetralogy Of Fallot/TOF (cyanosis starts after neonatal period). In neonates : Transposition of Great Arteries (TGA). Cyanotic CHD Increased pulmonary blood flow (PBF) Decreased PBF TGA. TOF. Truncus arteriosus. Ebstein anomaly. Total anomalous pulmonary ve- Tricuspid atresia. nous communication (TAPVC). Tetrology of Fallot : 1. Overriding of aorta. 2. RVH. D/t infundibular hypertrophy : Aka RVOT (right 3. Subpulmonary stenosis ventricular outflow tract) obstruction 4. VSD. Decreased PBF → Cyanosis. Paediatrics Revision v1.0 Marrow 6.5 2023  46 06 Paediatrics ----- Active space ----- Complications in TOF : Polycythemia (d/t chronic hypoxia) → thromboembolism. Brain abscess. Cyanotic spells : Trigger : Infundibular spasm. Rx : β blockers, O2 supplementation, NaHCO3 (for lactic acidosis), morphine (as CNS depressant). Squatting Knee chest position Increase vascular resistance by (young children) α agonists (Phenylephrine) Box shaped heart : Ebstein anomaly Boot shaped heart : TOF A/w lithium exposure in pregnancy (RVH +nt, pulmonary oligemia +nt). Egg on a side appearance : TGA Snowman/figure of 8 appearance : TAPVC One liners : M/c CHD a/w arrhythmias : Ebstein’s anomaly. Ebstein anomaly is associated with Wolf Parkinson White (WPW) syndrome (Bun- dle of Kent bypass). M/c arrhythmia in WPW syndrome : Paroxysmal supraventricular tachycardia (PSVT). Supracardiac TAPVC : All the heart chambers have equal O2 saturation. Paediatrics Revision v1.0 Marrow 6.5 2023  Paediatrics Revision 6 06 47 Acute rheumatic fever 00:28:38 ----- Active space ----- Modified Jones’ criteria (2015) for high risk population (India) : Major criteria Minor criteria 1. Carditis : Clinical and/or subclinical 1. Monoarthralgia. (echo findings s/o carditis). 2. Fever ≥ 38 0C. 2. Arthritis : 3. ESR ≥ 30 mm/hr in first hour and/ a. Monoarthritis/polyarthritis. or CRP ≥ 3 mg/dL. b. Polyarthralgia. 4. Prolonged PR interval. 3. Sydenham chorea. 4. Erythema marginatum. 5. S/c nodules. Diagnosis of a/c rheumatic fever : 2 major (or) 1 major + 2 minor (or) In recurrences, 3 minor + ↑ ASO titre. 20 Prophylaxis : Drugs Duration Parenteral : Benzyl Penicillin Without carditis : Next 5 years (or) till 18 (Penicillin G) years. Oral : Penicillin V. With carditis : Next 10 years (or) till 25 years. Whichever is later is preferred. Allergic to Penicillin : Macrolides. RHD/following valve repair surgery : Lifelong. Paediatrics Revision v1.0 Marrow 6.5 2023  48 07 Paediatrics ----- Active space ----- PEADIATRIC REVISION 7 Congenital anomalies in GIT 00:00:14 Esophageal atresia : C/F : Neonate with Excess frothing with salivation. Vomiting. Aspiration of feeds since birth. D/t proximal GI obstruction. Coiling of nasogastric tube in Common associated anomaly : TEF (Tracheoesoph- proximal esophagus ageal fistula). Investigations : Chest X-ray. Hypertrophic pyloric stenosis : C/F : Neonate. H/o vomiting. Dehydration present. Presents 2-3 weeks after birth. O/E : Olive shaped epigastric mass. Visible gastric peristalsis directed from left to right side. Pathology : Hypertrophy of circular muscles fibers. Drug association : Erythromycin. Investigations : IOC → USG : Pyloric muscle thickness : ≥ 4 mm. Pyloric channel length : ≥ 16 mm. Metabolic abnormalities due to vomiting : Hypokalemic, hypochloremic metabolic alkalosis with paradoxical aciduria. Management : Dehydration correction → NS + potassium. Sx correction → Ramstedt’s pyloromyotomy. Paediatrics Revision v1.0 Marrow 6.5 2023  Paediatrics Revision 7 07 49 Hirschsprung disease/aganglionosis : ----- Active space ----- C/F : Neonate. Not passed meconium since birth. Abdominal distension. Pathophysiology : Absent ganglion → no relaxation → Contracted rectum. Investigations : Contrast enema IOC : Rectal biopsy → Absent ganglions and hypertrophied nerve fibers Acetyl choline esterase stain → Hypertrophied nerve fibers. Contrast enema : Narrowed rectum. Celiac disease : C/F : Chronic diarrhoea (→ Malabsorption). Short stature. After 6 months of age Failure to thrive. Related to complementary feeding. Pathology : Gluten hypersensitivity (Barley, rye, oat and wheat (BROW)). Genetic predisposition : HLA DQ 2 and HLA DQ 8. Diagnosis : Serology : Autoantibodies → Anti-endomysial antibody. Small intestinal biopsy : 1. Villous atrophy. 2. Crypt hyperplasia. 3. ↑ intra-epithelial lymphocytes. Treatment : Gluten free diet. Paediatrics Revision v1.0 Marrow 6.5 2023  50 07 Paediatrics ----- Active space ----- Diarrhoea in children 00:12:04 Acute diarrhoea : Duration : 1 mg/dL or >20% of total s. bilirubin. C/F : Clay coloured stools and dark yellow urine. Overall M/C cause : EHBA (Extra-hepatic biliary atresia) > Neonatal hepatitis. Differentiated based on liver biopsy : Neonatal hepatits (Idiopathic) EHBA Hepatic architecture Disarray of hepatic lobules Intact Giant cells +++ + Portal reaction Inflammation ++ Fibrosis ++ Neo and periductular - + proliferation Paediatric nephrology and related disorders 00:24:14 Potter’s syndrome : Pathology : B/L fetal renal agenesis → Severe oligohydramnios → Fetal compression. C/F : Lung hypoplasia (Cause of death). Limb deformities : CTEV. Paediatrics Revision v1.0 Marrow 6.5 2023  52 07 Paediatrics ----- Active space ----- Bladder exstrophy or ectopia vesicae : Exposed bladder. Cloacal exstrophy : Exposed terminal ileum → Elephant trunk ileum. UTI : Over M/C cause : E.coli. Investigations : Urine culture : Specimen : Midstream clean catch urine sample (M/C). Significant colony count positivity : ≥ 105 CFU /mL. Follow up investigations : Investigations Timings Rationale Any time (Even during therapy USG KUB Screening of UTI) MCU (Micturating Detect anomalies (VUR 2-4 weeks after treatment cysto-urethrogram) : Vesicoureteric reflex). DMSA scan 3-4 months after treatment Detect renal scars UTI guidelines : First episode of UTI USG KUB Normal Abnormal/recurrent UTI/non-E.coli UTI Stop follow up MCU Normal Abnormal : VUR Nephrotic syndrome : DMSA Clinical features : Massive proteinuria : a. >40 mg/m2/hr (Normal : 2. Paediatrics Revision v1.0 Marrow 6.5 2023  Paediatrics Revision 7 07 53 c. Urine dipstick : 3+ or 4+. ----- Active space ----- Hypoalbuminemia. Generalized edema. Hyperlipidemia + lipiduria. Pathology : Minimal change disease (Overall m/c) → Effacement of foot process of podocytes. MCD vs disorders with significant changes : Significant change disorders Minimal change disease (Eg : FSGS) Age at onset 2-6 years Late adolescent period/adults Hematuria/hyper- - ± tension Renal function Normal Abnormal/↓↓ Response to steroids Excellent Resistant Definitions in nephrotic syndrome : Urine albumin nil or trace (Or proteinuria 99Tc scan. Congenital adrenal hyperplasia : Enzyme deficiency : 21 Hydroxylase (M/C). 11 hydroxylase. 17 hydroxylase. Pathway : Cholesterol Pregnenolone X 17 α hydroxypregnenolone Dehydroepiandosterone 17 α-Hydroxylase Progesterone X 17 α hydroxyprogesterone Androstenedione 21-Hydroxylase X21-Hydroxylase X Testosterone Deoxycorticosterone 11-deoxycortisol 11 β-Hydroxylase Corticosterone X Cortisol Aldosterone C/F : ↓ Aldosterone : ↓ BP and shock. ↓ Cortisol → ↑ ACTH (Pituitary) → Hyperpigmentation. In male child : Precocious puberty. ↑ Testosterone Ambiguous genitalia Inheritance : Autosomal recessive. Neonatal screening : ↑ 17-OHP (Hydroxyprogesterone). Dexamethasone : Given antenatally to decrease the risk of virilization of female fetus due to CAH. Paediatrics Revision v1.0 Marrow 6.5 2023