桑菲利波B综合征（黏多糖贮积症III B型）：脑脊液黏多糖及结膜活检分析的病例报告

Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy.

作者信息

Federico A, Capece G, Cecio A, D'Auria N, Di Iorio G, Ronsisvalle L, Di Natale P

出版信息

J Neurol. 1981;225(2):77-83. doi: 10.1007/BF00313321.

Abstract

A case of a child with Sanfilippo B syndrome (MPS III B), born of a consanguineous marriage, is reported. Urinary mucopolysaccharide analysis showed an abnormal excretion mainly of heparan sulphate. N-acetyl-a-glucosaminidase activity was absent in the patient but was present in the heterozygous range in parents and siblings. CSF mucopolysaccharides were also abnormally high. In fibrocytes from conjunctival biopsy and CSF cells numerous vacuoles containing storage material were found. The presence of vacuoles in fibrocytes from conjunctival biopsy and/or in CSF cells can be useful in the diagnosis of many suspected lysosomal storage disorders.

摘要

报告了一例因近亲结婚出生的患有桑菲利波B综合征（MPS III B）的儿童病例。尿粘多糖分析显示主要是硫酸乙酰肝素排泄异常。患者体内缺乏N-乙酰-α-氨基葡萄糖苷酶活性，但父母和兄弟姐妹的该酶活性处于杂合子范围。脑脊液粘多糖也异常高。在结膜活检的纤维细胞和脑脊液细胞中发现了许多含有储存物质的空泡。结膜活检的纤维细胞和/或脑脊液细胞中存在空泡，可有助于诊断许多疑似溶酶体贮积症。