Of abetalipoproteinemia

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.

General: conscious, active, looks emaciated and wasted. Signs of active rickets.

Vitally: stable

Abdomen: soft, lax, no organomegaly.

Hb12 N

WBC9.6 N

PLT712

Na127 L

Ka3.4 L

CL94 L

Urea0.9 L

creatinine20 L

Ca1.46 L

Glucose, random4.8

CBCU/ELFT

Total protein62 L

AL6 35

ALP498 H

AST73 H

ALT67 H

Lipid profile

cholesterol1.17

TGL0.00 L

LDL0.02

25-OH-vitamin D315.5 L Tissue transglutaminase - IgA

5 N

Celiac screan

IgG6.22 N

IgA0.7 L

IgM1.62

endoscopic biopsy was done and showing the following features;