类固醇硫酸酯酶缺乏症伴双侧脑室周围结节性异位。

Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia.

作者信息

Ozawa Hiroshi, Osawa Maki, Nagai Toshiro, Sakura Nobuo

机构信息

Department of Handicapped Children's Support, Shimada Center for Rehabilitation and Neurodevelopmental Intervention, Tama-city, Tokyo, Japan.

出版信息

Pediatr Neurol. 2006 Mar;34(3):239-41. doi: 10.1016/j.pediatrneurol.2005.08.015.

DOI:10.1016/j.pediatrneurol.2005.08.015

PMID:16504797

Abstract

This report presents a case of steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. A 13-year-old male was diagnosed as having steroid sulfatase deficiency because steroid sulfatase activity was not detected in his leukocytes. In deoxyribonucleic acid studies, steroid sulfatase locus and adjacent loci were found to be deleted in his deoxyribonucleic acid. Cranial magnetic resonance imaging revealed periventricular nodular heterotopia, disclosing an irregular contour of the lateral walls of the lateral ventricles due to small nodular masses that were isointense as to the gray matter. In steroid sulfatase deficiency patients, bilateral periventricular nodular heterotopia must be considered.

摘要

本报告介绍了一例伴有双侧脑室周围结节性异位的类固醇硫酸酯酶缺乏症病例。一名13岁男性被诊断为患有类固醇硫酸酯酶缺乏症，因为在他的白细胞中未检测到类固醇硫酸酯酶活性。在脱氧核糖核酸研究中，发现他的脱氧核糖核酸中类固醇硫酸酯酶基因座和相邻基因座缺失。头颅磁共振成像显示脑室周围结节性异位，由于与灰质等信号的小结节状肿块，侧脑室侧壁轮廓不规则。对于类固醇硫酸酯酶缺乏症患者，必须考虑双侧脑室周围结节性异位。