Neuroacanthocytosis and aprebetalipoproteinemia

被引：12
|
作者：
Bohlega, S
Riley, W
Powe, J
Baynton, R
Roberts, G
机构：
[1] King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh 11211, Saudi Arabia
[2] King Faisal Specialist Hosp & Res Ctr, Dept Radiol, Riyadh 11211, Saudi Arabia
[3] King Faisal Specialist Hosp & Res Ctr, Dept Pathol & Lab Med, Riyadh 11211, Saudi Arabia
来源：
NEUROLOGY | 1998年 / 50卷 / 06期
关键词：
D O I：
10.1212/WNL.50.6.1912
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A 30-year-old woman presented with a progressive neurologic disorder characterized by seizures, buccolingual dyskinesias, orofacial ties, choreiform movements, atrophy, and areflexia. Investigations revealed normal lipid profile except for aprebetalipoproteinemia. Phase-contrast and electron microscopy showed 35 to 40% acanthocytes. MRI and (18)fluorodeoxyglucose-PET studies showed caudate atrophy and hypometabolism. The phenotype of this patient is neuroacanthocytosis and its association with aprebetalipoproteinemia may represent a new subentity of the disorder.
引用
收藏
页码：1912 / 1914
页数：3
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