Quiz

A 12-year-old boy presented with steatorrhea and abdominal distension from 6 months of age.He had history of intracranial bleed at 50 days of life secondary to deranged prothrombin time (PT INR).He never had complaints of blood in stools, abdominal pain, jaundice, pruritus or respiratory symptoms.On examination, his height and weight were less than the 3rd centile, Pallor and Bitot's spots were present.Microcytic hypochromic anemia and 5% acanthocytes seen in peripheral smear analysis.Immunoglobulin A-tissue transglutaminase (IgA-TTG) and total IgA levels were normal.His liver function test was normal but he had a deranged lipid profile: total cholesterol 31 mg/dL, low-density lipoprotein (LDL) 2 mg/dL, high-density lipoprotein (HDL) 27 mg/dL, triglycerides 21 mg/dL.His parent's lipid profile was normal.Snowy white duodenal mucosa is visualized in upper gastrointestinal endoscopy.Histopathological examination of the duodenal mucosa showed a classical finding which clinched the diagnosis. Questions1. Identify the histological finding and give the diagnosis.2. How do we diagnose this condition?3.