“哈勒沃登 - 施帕茨综合征——婴儿型神经轴索性营养不良”综合征。病例报告。

"Hallervorden-Spatz syndrome--infantile neuroaxonal dystrophy" complex. Case report.

作者信息

Bresolin A U, Pascuzzi L, Melaragno Filho R, Fontana M H, Pecora R, Souza Dias J C

机构信息

Servico de Neurologia, Hospital do Servidor Público Estadual de São Paulo, Brasil.

出版信息

Arq Neuropsiquiatr. 1988 Mar;46(1):69-72. doi: 10.1590/s0004-282x1988000100012.

DOI:10.1590/s0004-282x1988000100012

PMID:3408385

Abstract

Case report of a 7 1/2-year-old girl considered as being normal until the age of 2 years. From then on she progressed with gait disturbance, mental deterioration, dystonic movements, convulsions and dysarthria. She died of bronchopneumonia one year later. CT scan showed hyperdensity at the putamen, with no signs of cerebral atrophy. Pathological examination disclosed an intense red coloration of the putamen and axonal "spheroids" at electron microscopy.

摘要

一名7岁半女童的病例报告，该女童在2岁前被认为发育正常。从那时起，她出现步态障碍、智力衰退、肌张力障碍性运动、惊厥和构音障碍。一年后，她死于支气管肺炎。CT扫描显示壳核高密度，无脑萎缩迹象。病理检查发现壳核呈强烈红色，电子显微镜下可见轴突“球体”。