双胞胎共患Ⅰ型唾液酸沉积症  

The cases of twins with sialidosis type 1

作　　者：李东初 王建文 王珍珍 任紫晗 兰甜甜 常乐 谷涛 陈桂生[2] Li Dongchu;Wang Jianwen;Wang Zhenzhen;Ren Zihan;Lan Tiantian;Chang Le;Gu Tao;Chen Guisheng(Ningxia Medical University School of Clinical Medicine,Yinchuan 750004,China;Department of Neurology,General Hospital of Ningxia Medical University,Ningxia Key Laboratory for Cerebrocranial Diseases,Yinchuan 750004,China)

机构地区：[1]宁夏医科大学临床医学院,银川750004 [2]宁夏医科大学总医院神经内科,宁夏颅脑疾病重点实验室,银川750004

出　　处：《中华神经科杂志》2023年第5期543-549,共7页Chinese Journal of Neurology

摘　　要：唾液酸沉积症是一种由位于6p21.33的NEU1基因突变所致的罕见的溶酶体贮积病,患者具有肌阵挛发作、共济失调、癫痫、视力下降等特点。文中通过报道一对双胞胎共患Ⅰ型唾液酸沉积症以丰富临床医师对该疾病的认识,提高诊疗手段。先证者为16岁男性,主要症状为间断性四肢不自主抖动2年,伴发作性意识丧失。眼底检查提示黄斑樱桃红斑。其双胞胎弟弟与其症状相似,但总体表现较轻。全外显子测序结果显示,2例患者均携带NEU1基因c.239C>T(p.P80L)和c.803A>G(p.Y268C)复合杂合突变,分别来自其表型正常的母亲和父亲。Sialidosis is a rare lysosomal storage disease caused by NEU1 gene mutation at 6p21.33.It is characterized by myoclonic,ataxia,epilepsy,and decreased vision.A pair of twins with sialidosis type 1 are reported to enrich clinicians′understanding of the disease,so as to improve the diagnosis and treatment.The proband was a 16-year-old male.The main symptom was intermittent limb involuntary trembling for 2 years,with paroxysmal loss of consciousness.Fundus examination showed cherry-red spots.His twin brother had similar symptoms,but the overall performance was mild.Whole exome sequencing results showed that both patients carried compound heterozygous mutations of c.239C>T(p.P80L)and c.803A>G(p.Y268C)in NEU1 gene,which were from their normal phenotype mother and father.

关 键 词：唾液酸贮积病 双胎疾病 共济失调 癫痫 NEU1基因 

分 类 号：R596.1[医药卫生—内科学]