A child is brought to the pediatric OPD with high grade fever of 24 hours duration. History reveals 3 episodes of chest infection and passage of foul smelling stools. The most probable diagnosis is:: (A) Cystic fibrosis, (B) Maple syrup urine disease, (C) Bilirubin conjugation defect, (D) Criggler Najar syndrome
Answer is A. High grade fever and recurrent chest infection along with passage of foul smelling stools (steatorrhea) suggests a diagnosis of cystic fibrosis. In cystic fibrosis because of pancreatic exocrine insufficiency, foul smelling stool (steatorrhea) is common. Cystic fibrosis: Autosomal recessive disease Mutation in cystic fibrosis transmembrane conductor regulator (CFTR) gene on chromosome 7q There is defective transpo of chloride and not calcium in cystic fibrosis. C/F's: Recurrent respiratory infections Azoospermia and infeility Exocrine pancreatic insufficiency causing steatorrhea Recurrent acute/chronic pancreatitis Biliary cirrhosis Failure to thrive Salt depletion Vitamin deficiencies