鞘脂激活蛋白B缺乏所致异染性脑白质营养不良的骨髓移植：1例随访3年的病例报告

Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period.

作者信息

Landrieu P, Blanche S, Vanier M T, Metral S, Husson B, Sandhoff K, Fischer A

机构信息

Department of Pediatric Neurology, Bicêtre Hospital, University of Paris, France.

出版信息

J Pediatr. 1998 Jul;133(1):129-32. doi: 10.1016/s0022-3476(98)70191-x.

DOI:10.1016/s0022-3476(98)70191-x

PMID:9672525

Abstract

A 2-year-old child had a metachromatic leukodystrophy-variant phenotype mainly involving the peripheral nervous system (PNS) that was caused by saposin-B deficiency. Bone marrow transplantation resulted in transient deterioration then continuous improvement of PNS functions. These findings were supported by nerve conduction velocity measurements, but the symptoms ultimately worsened. Magnetic resonance imaging showed persistent white matter lesions and progressive pontocerebellar atrophy.

摘要

一名2岁儿童患有主要累及周围神经系统（PNS）的异染性脑白质营养不良变异型表型，由鞘脂激活蛋白B缺乏引起。骨髓移植导致PNS功能短暂恶化，随后持续改善。这些发现得到了神经传导速度测量的支持，但症状最终恶化。磁共振成像显示持续的白质病变和进行性脑桥小脑萎缩。