Cerebrotendinous xanthomatosis

被引：5

作者：

Kamate, Mahesh ^{[1
]}

Chetal, Vivek ^{[1
]}

Hattiholi, Virupaxi ^{[2
]}

机构：

[1] KLE Univ, JN Med Coll, Dept Pediat, Belgaum 590010, Karnataka, India

[2] KLE Univ, JN Med Coll, Dept Radiol, Belgaum 590010, Karnataka, India

来源：

INDIAN JOURNAL OF PEDIATRICS | 2010年 / 77卷 / 06期

关键词：

Cerebrotendinous xanthomatosis; Xanthomata; Juvenile cataracts;

D O I：

10.1007/s12098-010-0070-9

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases. Magnetic resonance imaging showed characteristic signal alterations in cerebellar hemispheres, brainstem and posterior cerebral white matter.

引用

页码：697 / 698

页数：2

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