CARDIOMYOPATHY, MENTAL-RETARDATION, AND AUTOPHAGIC VACUOLAR MYOPATHY - ABNORMAL MRI FINDINGS IN THE HEAD

被引：18

作者：

KASHIO, N

USUKI, F

AKAMINE, T

NAKAGAWA, S

HIGUCHI, I

NAKAHARA, K

OKADA, A

OSAME, M

MURATA, F

机构：

[1] MIYAZAKI PREFECTURAL HOSP,DEPT NEUROL,MIYAZAKI 880,JAPAN

[2] FUJIMOTO HOSP,DEPT NEUROL,MIYAKONOJO 885,JAPAN

[3] MIYAZAKI PREFECTURAL HOSP,DEPT INTERNAL MED,MIYAZAKI 880,JAPAN

[4] KAGOSHIMA UNIV,FAC MED,DEPT ANAT 2,KAGOSHIMA 890,JAPAN

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1991年 / 105卷 / 01期

关键词：

LYSOSOMAL GLYCOGEN STORAGE; NORMAL ACID ALPHA-GLUCOSIDASE ACTIVITY; CARDIOMYOPATHY; MENTAL RETARDATION; MUSCULAR WEAKNESS; MAGNETIC RESONANCE IMAGING (MRI);

D O I：

10.1016/0022-510X(91)90109-K

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 21-year-old man with childhood-onset mental retardation, non-obstructive hypertrophic cardiomyopathy, and vacuolar myopathy is presented. A histopathological study of biopsied skeletal muscle showed lysosomal glycogen storage mimicking acid maltase deficiency, but biochemical analysis showed normal acid alpha-glucosidase activity. Glycogenosomes were also recognized in endothelial cells on electronmicroscopic examination of biopsied skeletal muscle. Magnetic resonance imaging (MRI) findings in the head revealed the involvement of the central nervous system. This is a new type of lysosomal glycogen storage disease with multisystemic involvement. The specific biochemical defect in this disorder remains to be elucidated.

引用

页码：1 / 5

页数：5

共 14 条

[1] HISTOCHEMICAL METHODS FOR ACID PHOSPHATASE USING HEXAZONIUM PARAROSANILIN AS COUPLER [J].