INFANTILE NEUROAXONAL DYSTROPHY - DIAGNOSIS BY SKIN BIOPSY

被引：0

作者：

OZMEN, M ^{[1
]}

CALISKAN, M ^{[1
]}

GOEBEL, HH ^{[1
]}

APAK, S ^{[1
]}

机构：

[1] UNIV MAINZ, DEPT NEUROPATHOL, W-6500 MAINZ, GERMANY

来源：

BRAIN & DEVELOPMENT | 1991年 / 13卷 / 04期

关键词：

NEUROAXONAL DYSTROPHY; PSYCHOMOTOR REGRESSION; ENLARGED AXONS; TUBULO-CISTERNAL PROFILES; SKIN BIOPSY; ELECTRON MICROSCOPY;

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have infantile neuroaxonal dystrophy (INAD). Beyond the age of two years, the EEG also entails characteristic findings. Diagnosis may be obtained by an ultrastructural examination of biopsied skin. The respective clinical and morphological findings are recorded and illustrated from four patients in this report.

引用

页码：256 / 259

页数：4

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