成人起病且以脑干损害为主的X连锁肾上腺脑白质营养不良1例  

Adult-onset X-linked adrenoleukodystrophy characterized by brainstem symptoms:a case report

作　　者：于淼 岳伟[2] Yu Miao;Yue Wei(Department of Neurology,Tianjin Huanhu Hospital,Tianjin 300350,China;Clinical College of Neurology,Neurosurgery and Neurorehabilitation,Tianjin Medical University,Tianjin 300070,China)

机构地区：[1]天津市环湖医院神经内科,天津300350 [2]天津医科大学神经内外科及神经康复临床学院,天津300070

出　　处：《中华神经科杂志》2023年第7期800-805,共6页Chinese Journal of Neurology

基　　金：天津市医学重点学科(专科)建设项目(TJYXZDXK-052B);天津市卫生健康科技项目(TJWJ2021QN061,ZC20134)。

摘　　要：X连锁肾上腺脑白质营养不良(X-ALD)是最常见的过氧化物酶体疾病。成人起病、以脑干损害为主要表现者为该病的罕见表型。现报道1例于2021年4月12日就诊于天津市环湖医院、成人起病且以脑干损害为主的青年男性X-ALD患者,总结其临床资料及诊治过程。该患者主要表现为进行性加重的行走困难、构音障碍、共济失调,经基因检测显示其ABCD1基因存在半合子突变位点,结合辅助检查符合X-ALD的临床诊断。文中还总结了已报道的脑干损害为主的X-ALD患者临床特征、影像学及遗传学特点,以提高对该疾病临床表型的认识。X-linked adrenoleukodystrophy(X-ALD)is the most common peroxisomal disorder.Adult-onset X-ALD characterized by brainstem symptoms is a rare phenotype of the disease.A male youth of adult-onset X-ALD characterized by brainstem symptoms in Tianjin Huanhu Hospital at April 12,2021 is reported.The patient mainly presented with progressively gait disturbance,dysarthria and ataxia,which were consistent with the clinical diagnosis of X-ALD in combination with other ancillary tests.Genetic testing suggested the presence of a hemizygous mutation site in theABCD1 gene.The clinical,imaging and genetic characteristics of X-ALD patients in the literature with brain stem lesion are also summarized,thereby improving the understanding of the rare clinical phenotype of X-ALD.

关 键 词：肾上腺脑白质营养不良 脑干 共济失调 磁共振成像 ABCD1基因 

分 类 号：R596[医药卫生—内科学]