All are features of Abetalipoproteinemia, EXCEPT:

Correct Answer: Neurological manifestation as ataxia in first decade
Description: Plasma levels of cholesterol and triglyceride are extremely low in this disorder, and chylomicrons. Abetalipoproteinemia usually presents in early childhood with diarrhea and failure to thrive. The neurological manifestations like decreased distal lower extremity vibratory and proprioceptive sense, dysmetria, ataxia, and the development of a spastic gait, often by the third or fouh decade. Patients also develop a progressive pigmented retinopathy presenting with decreased night and color vision. Ref: Harrisons Principles of Internal Medicine, 18th Edition, Page 3153
Category: Medicine
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