Essential Pediatric One-Liners: Key Facts and Conditions

• M/c cause of short stature during childhood is a constitutional delay in growth and puberty. 
• Microcephaly is head circumference of < - 3z score & expected according to age and sex. 
• Macrocephaly is a head circumference of > +2z score & is expected according to age and sex. 
• Craniosynostosis leads to abnormal head shape due to premature fusion of cranial sutures.
  • Syndromes associated with craniosynostosis:
    • Carpenter syndrome 
    • Pfeiffer syndrome 
    • Alport syndrome 
    • Crouzon syndrome 
• In achondroplasia, there is a large head with short limbs, trident hands, and a Champagne glass pelvis; mode of inheritance: A.D., US/LS ratio. 
• Rett syndrome
  • X-linked dominant disorder with acquired microcephaly, delayed development, and stereotypic hand-wringing movement. 
• The first sign of puberty in females is thelarche. 
• The 1st sign of puberty in males is testicular enlargement.

• Delayed dentition is when no teeth erupt by 13 months. 
• Severe acute malnutrition in a child (6 months–5 years) is defined as the presence of one (or) more of:
  • Weight for height < 70% (or) < - 3z score of expected; mid-upper arm circumference < 11.5 cm (or) symmetric bipedal edema of nutritional origin. 
• The earliest symptom of vitamin A deficiency is night blindness, while conjunctival xerosis is the earliest sign. 
• Calculation of maintenance fluid requirement in children (Per day) to For 1 10 kg: 100 ml/kg
  • For the next 10 kg: 50 ml/kg 
  • Beyond 20 kg: 20 ml/kg 
  • Fluid commonly used in children in DNS with 1 ml KCl in 100 ml solution. 
• Breast milk contains more lactose and less protein as compared to cow's milk, and breast milk contains an adequate amount of all vitamins except Vit D, Vit K, and Vit B in strictly vegan mothers. 12 
• For how long can expressed breast milk be stored?
  • At Room temperature: 8-10 hrs 
  • At Refrigerator: 24-48 hrs 
  • At deep freezer (-20 C) - 3 months 
• Fragile x syndrome is due to > 200 CGG repeats; loss of function mutation of FMR1 gene is seen
  • 10≅ 40 st 
• Biochemical marker used for antenatal screening of Down's syndrome during the 1st  trimester:
  • PAPP-A, HCG 
  • 2nd trimester
    • Triple test (βHCG, AFP, Unconjugated estriol) 
    • Quadruple test (βHCG, AFP, Unconjugated inhibition) 
• Confirmatory test for Down's syndrome → Fetal karyotyping 
• Multiple fractures in Antenatal USG → most likely diagnosis: Osteogenesis imperfecta
• M/c chromosomal abnormality in children is Down syndrome, caused by maternal meiotic non-dysfunction. 
• M/c Glycogen storage disease in children is Von Gierke disease (Type 1 GSD) 
• M/c enzyme deficient in Galactosemia is Galactose-1.

Also read: Chronic Liver Diseases in Pediatrics

Phosphate Uridyl Transferase 

• A child with seizures and lethargy with meat. Acidosis along with skin rashes and alopecia → most likely diagnosis is biotinidase deficiency (or) multiple carboxylase deficiency. 
• Palpable purpura in a child with one (or) more of arthritis or arthralgia, abdominal pain, renal involvement, or (or) any biopsy showing IgA deposition most likely diagnosis is Henoch Schoenlein purpura. 
• Congenital CMV is the M/C non-genetic cause of sensorineural deafness in children. 
• Triad of congenital Rubella syndrome

i. Cataract 

ii. Sensorineural deafness 

iii. Congenital heart disease (m/c → PDA) 

• Hutchinson's Triad
  • Interstitial keratitis
  • Sensory Neural deafness 
  • Hutchinson's teeth 
• M/c complication of measles is otitis media m/c/c of death in measles is pneumonia. 
• Both fipv and Pcv are recommended at 6 weeks *** weeks and 9 months in N/S 
• Causes of delayed passage of meconium in a neonate include Hirschsprung disease and cystic fibrosis. 
• Neonatal hypothermia is defined as axillary temperature < 36.5°C.
  • Cold stress → 36-36.4°C 
  • Moderate hypothermia → 32-35.9°C 
  • Severe hypothermia → < 32°C 
• Absolute contraindication of bag and mask ventilation is a congenital diaphragmatic hernia. 
• Causes of asymmetric Moro's reflex:
  • Fracture clavicle 
  • Shoulder joint dislocation 
  • Congenital hemiplegia 
  • Erb's palsy 
• M/c type of seizures in neonates → subtle seizures 
• M/c/c of seizures in neonates → Hypoxia 
• IOC for neonatal seizures → phenobarbitone

Also read: Pediatrics: Updates in Neonatology

• M/c congenital abnormality in babies born to diabetic mothers is congenital heart disease. 
• M/c congenital heart disease is VSD, while the most specific is TGA. 
• The most important mechanism by which phototherapy acts is structural isomerization. 
• The most important risk factor for NEC is prematurity. 
• M/c type of CDH is Bochdalek (posterolateral) Variety 
• M/c/c of neonatal sepsis in India: Acinetobacter > Klebsiella 
• M/c heart disease in Down's syndrome is an Av septal defect (or). Endocardial Austen defect in
  • Turner's syndrome—bicuspid aortic valve 
  • Noonan syndrome – Pulmonary stenosis 
  • William syndrome – supravalvular aortic stenosis 
• M/c/c of cyanosis in a child is ToF, while in a neonate is TGV. 
• M/c primary intraocular tumor in children is retinoblastoma. 
• M/c presentation of retinoblastoma is leukocoria. 
• M/c viral agent causing diarrhea in children: Rotavirus. 
• M/c extra intestinal manifestation of celiac disease is refractory IDA. 
• M/c/c of portal hypertension in children is EHpvo.
• M/c/c of croup is parainfluenza virus, while M/c of acute epiglottitis is streptococcus. 
• M/c/c of bronchiolitis → Respiratory syncytial virus 
• M/c/c of idiopathic
  • Nephrotic syndrome in children → minimal change disease 

• Triad of hemolytic uremic syndrome
  • Microangiopathic hemolytic anemia 
  • Thrombocytopenia 
  • Renal insufficiency 
• M/c/c of cross hematuria in children 1-2 days after URI is IgA nephropathy. 
• M/c/c of cross hematuria in children 1-3 weeks after URI is PSGN. 
• Mc/c of congenital hypothyroidism is thyroid dysgenesis. 
• M/c/c of congenital hypothyroidism in a child with goiter is thyroid dyshormonogenesis. 
• M/c/c of CAH is hydroxylase deficiency. 
• M/c/c of Cushing syndrome is prolonged exogenous administration of glucocorticoids. 
• M/c/c of seizure in children < 5 yrs is febrile seizures. 
• M/c location of the meningomyelocele is the lumbosacral region. 
• Toc for infantile spasm: ACTH 
• M/c/c of an elevated CSF opening pressure is an agitated child. 
• M/c abdominal emergency of early childhood is intussusception. 
• Best screening tests for celiac disease are a combination of anti-TTG IgA and total IgA. 
• M/c/c of intestinal obstruction between 8 months and 6 years of age is intussusception. 

Also read: Intestinal Obstruction: Intussusception, Hirschsprung Disease

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