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Medicine General d0c8f3ad

All are features of Abetalipoproteinemia, EXCEPT:

A
Plasma levels of cholesterol and triglyceride are extremely low
B
Manifest in early childhood with diarrhea
C
Progressive pigmented retinopathy seen
D
Neurological manifestation as ataxia in first decade
High-Yield Explanation
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

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