Hereditary haemochromatosis (HH) is a common autosomal recessive systemic iron overload disorder in which CNS manifestations, particularly movement disorders, have been reported. We report a 63 year old woman with fam...Hereditary haemochromatosis (HH) is a common autosomal recessive systemic iron overload disorder in which CNS manifestations, particularly movement disorders, have been reported. We report a 63 year old woman with familial HH with a four year history of progressive gait disturbance, chorea, and mild cervical and laryngeal dystonia. Her movement disorder was thought to be related to the haemochromatosis. On further investigation, analysis for the Huntington’ s disease expansion was positive. A review of the seven published cases of movement disorders associated with HH as well as data concerning brain iron deposition in this condition leads us to debate the causal link between movement disorders and HH. We suggest that ovement disorders are rare in association with HH, and that such patients should be thoroughly investigated for another cause for their movement diorder.展开更多
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...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。展开更多
文摘Hereditary haemochromatosis (HH) is a common autosomal recessive systemic iron overload disorder in which CNS manifestations, particularly movement disorders, have been reported. We report a 63 year old woman with familial HH with a four year history of progressive gait disturbance, chorea, and mild cervical and laryngeal dystonia. Her movement disorder was thought to be related to the haemochromatosis. On further investigation, analysis for the Huntington’ s disease expansion was positive. A review of the seven published cases of movement disorders associated with HH as well as data concerning brain iron deposition in this condition leads us to debate the causal link between movement disorders and HH. We suggest that ovement disorders are rare in association with HH, and that such patients should be thoroughly investigated for another cause for their movement diorder.
