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This case report discusses an 8-month-old boy who presented with chronic diarrhea and steatorrhea lasting four months. The child exhibited no vomiting, decreased oral intake, fever, or abdominal distension. A thorough examination revealed signs of emaciation and rickets but no organomegaly. Family history showed no prior cases, but parents are cousins. Various investigations, including CBC, lipid profile, and endoscopic biopsy, were conducted, leading to differential diagnosis considerations for this rare condition.
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Case presentation Of abetalipoproteinemia
History • 8 months old boy presented to our hospital with history of chronic diarrhea and steatorrhea for about four months duration. There is no history of vomiting, no decrease in oral intake, no fever, no abdominal destintion. Other systems are unremarkable. • Family history: • No similar case in the family. • The parents are cousins.
Examination • General: conscious, active, looks emaciated and wasted. Signs of active rickets. • Vitally: stable • Abdomen: soft, lax, no organomegaly.
Investigation U/E CBC Celiac screan LFT Lipid profile
endoscopic biopsy was done and showing the following features;
