一例青少年异染性脑白质营养不良——日本第三例病例。
A case of juvenile metachromatic leukodystrophy--the third case in Japan.
作者信息
Mizuno Y, Nakamura Y, Sugaya A, Komiya K
机构信息
Department of Pediatrics, Tokyo Metropolitan Neurological Hospital, Japan.
出版信息
Brain Dev. 1988;10(1):50-3. doi: 10.1016/s0387-7604(88)80047-0.
We report here a case of juvenile metachromatic leukodystrophy. The patient is an 8-year-old boy with motor and mental deterioration, which began at about age 3. He has also suffered from astatic seizures since age 8. Arylsulfatase A activity in the patient was markedly decreased in peripheral leukocytes, cultured fibroblasts and urine. Sulfatide was detected in urine from the patient by thin-layer chromatography. Peripheral motor and sensory nerve conduction velocities were markedly reduced. Computerized tomography of the brain showed low density areas in the periventricular white matter which were not enhanced by intravenous contrast material. His parents' arylsulfatase A activities were about half those of normal controls. This is the third case of juvenile metachromatic leukodystrophy in Japan.
我们在此报告一例青少年型异染性脑白质营养不良病例。该患者为一名8岁男孩，运动和智力出现衰退，始于约3岁时。自8岁起他还患有起立不能性癫痫。患者外周血白细胞、培养的成纤维细胞及尿液中的芳基硫酸酯酶A活性显著降低。通过薄层色谱法在患者尿液中检测到硫脂。外周运动和感觉神经传导速度显著降低。脑部计算机断层扫描显示脑室周围白质有低密度区，静脉注射造影剂后未强化。其父母的芳基硫酸酯酶A活性约为正常对照的一半。这是日本的第三例青少年型异染性脑白质营养不良病例。
Zotero 插件