双胞胎共患Ⅰ型唾液酸沉积症

The cases of twins with sialidosis type 1

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.