与一种新型复合杂合突变相关的三 A 综合征中的脊髓萎缩

Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.

作者信息

Kunte Hagen, Trendelenburg George, Matzen Julia, Ventz Manfred, Kornak Uwe, Harms Lutz

机构信息

Department of Neurology, Charité-Universitätsmedizin Berlin, Germany.

出版信息

Neuro Endocrinol Lett. 2010;31(3):301-3.

PMID:20588230

Abstract

A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected. This is a case report of a triple A syndrome patient with a predominance of neurological features and a new heterozygous compound mutation in triple A syndrome gene.

摘要

一名38岁男性患者因缓慢进展的痉挛性步态障碍入院。影像学检查显示脊髓普遍萎缩。由于肾上腺功能不全、无泪症和贲门失弛缓症，怀疑为三A综合征。这是一例以神经学特征为主的三A综合征患者的病例报告，且在三A综合征基因中发现了一种新的杂合复合突变。