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Case presentation

Case presentation. Of abetalipoproteinemia. History.

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Case presentation

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  1. Case presentation Of abetalipoproteinemia

  2. 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.

  3. Examination • General: conscious, active, looks emaciated and wasted. Signs of active rickets. • Vitally: stable • Abdomen: soft, lax, no organomegaly.

  4. Investigation U/E CBC Celiac screan LFT Lipid profile

  5. endoscopic biopsy was done and showing the following features;

  6. Differential diagnosis

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