Page 1 of 1: A 15-months-old boy is brought to consultation by his

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A 15-months-old boy is brought to consultation by his grandmother, who hadn’t seen him in a year. Although well fed by his parents, the child has been presenting large, frothy, foul smelling stools and is under the 3rd percentile of weight for his age. He is unable to walk. The examination of the retina reveals a dark pigment. A blood test reveals acanthocytes, What is most likely true about the underlying defect of his disease?

a. It is located in the brush border of the intestinal mucosa.
b. It is explained by an incapacity to break down lactose.
c. It is due to an exaggerated immune response elicited by gliadin
d. It is due to an abnormality in the production of chilomycrons
e. It is related to a protozoan infestation of the duodenum

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IS IT GLUTEIN SENSITIVITY,

ALL OTHER ACTIVE MEMBERS PLEASE GET ALIVE AND ANSWER YAAR PG KA SAWAAL HAI

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yeah akanksha is absolutely right !!!

decembermist · Credits: 41121 My Scrapbook

ans is d)

ABETALIPOPROTEINEMIA, the autosomal recessive deficit of Beta-lipoprotein. This deficiency leads to the inability to build a kind of chylomicrons and to the laboratorial hallmark of the disease: ACANTHOCYTES, which are spur-shaped red cells (red cells with spins, not exclusive, but characteristic). The other clinical features (not found in the review books for Step 1, but stressed in Robbin’s Pathology and Harrison’s) are ATAXIA and PIGMENTOUS RETINITS. The inability to walk in this boy can be due both to the ataxia or to severe malnutrition, but the findings in the retina are highly suggestive of abetalipoproteinemia, in the context presented.

A -B
Dissacaridases are located in the microvilli of the cells of the small intestine, which, altogether are known as the “brush border”. Lactase defficiency, leading to lactose intolerance is the most common form of dissacaridase defficiency.

C
Gliadin is the component of gluten that elicits the abnormal inmune response in celiac disease (also known as celiac sprue or gluten sensitivity)

E
Giardia lamblia is a protozoan causing malabsorption.

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