遗传性弥漫性脑白质病变合并球状轴索临床特点

Clinical characteristics of hereditary diffuse leukoencephalopathy with spheroids

目的探讨遗传性弥漫性脑白质病变合并球状轴索(hereditary diffuseleukoencephalopathy with spher⁃oids,HDLS)临床及影像学特点,为临床正确诊断HDLS提供思路。方法回顾性分析2012年12月至2021年11月基因检测确诊的3例HDLS临床表现、体格检查、神经影像、治疗、预后等资料,结合文献分析HDLS患者的临床特点。结果3例HDLS患者中,男1例,女2例。发病年龄分别为41岁、47岁、46岁。2例患者以反应迟钝、记忆力下降起病,1例以行动迟缓起病。2例病程中出现锥体系受累症状。3例患者头颅MRI均提示双侧侧脑室旁、半卵圆中心脑白质病变。1例DWI序列持续高信号。2例出现脑萎缩,脑室扩大。3例患者均完善脑白质病相关基因检测,结果显示3例患者集落刺激因子1受体(colony⁃stimulating factor 1 receptor,CSF1R)基因突变。结论HDLS临床表现具有异质性。对以神经精神症状和运动障碍起病且头颅MRI示双侧脑白质病变的中青年患者,需考虑CSF1R基因突变所致HDLS的可能。

Objective To investigate the clinical and imaging features of hereditary diffuse leukoencephalopathy with spheroids(HDLS).Methods Three patients with HDLS from affiliated brain hospital of Nanjing medical university between December 2012 and November 2021 were analyzed retrospectively through clinical manifestations,physical examination,neuroimaging,treatment and prognosis.Relevant literature review was conducted.Results Among the three patients,there were 1 male and 2 females.The onset ages were 41,47 and 46 years old respectively.Two patients started with slow response and memory loss and one patient started with bradykinesia.Two patients developed symptoms of pyramidal system during the course of disease.Brain MRI of 3 patients showed white matter lesion in bilateral periventricular and centrum semiovale.Persistent high signal on DWI sequence was observed in one patient.Two patients had brain atrophy andventricular enlargement.The results of leukoencephalopathy-related gene test showed the colony stimulating factor 1 receptor(CSF1R)mutation in 3 patients.Conclusions The clinical manifestations of HDLS are heterogeneous.HDLS due to CSF1R gene mutation should be considered in young and middle-aged patients with neuropsychiatric symptoms and dyskinesia if the white matter lesions are shown in bilateral periventricular.