一种可治疗的进行性共济失调和腭震颤的罕见病因。
A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.
作者信息
Rossi Malco, Cesarini Martin, Gatto Emilia M, Cammarota Angel, Merello Marcelo
机构信息
Movement Disorders Section and Neurology Department, Raúl Carrea Institute for Neurological Research (FLENI), Buenos Aires, Argentina.
Movement Disorders Section and Neurology Department, Instituto de Neurociencias de Buenos Aires (INEBA), Buenos Aires, Argentina.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2018 May 17;8:538. doi: 10.7916/D8X07Q2N. eCollection 2018.
BACKGROUND
Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms.
CASE REPORT
An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts.
DISCUSSION
The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts. Early diagnosis is critical to the institution of specific treatment with chenodeoxycholic acid.
背景
脑腱黄瘤病是一种罕见的常染色体隐性神经代谢障碍疾病，其特征为慢性腹泻、腱黄瘤、青少年白内障和神经症状。
病例报告
一名患有脑腱黄瘤病的成年患者在没有腱黄瘤和白内障的情况下出现共济失调和腭震颤。
讨论
该病例的重要性在于，即使没有腱黄瘤和白内障，脑腱黄瘤病也应被视为进行性共济失调伴腭震颤综合征的一种可能病因。早期诊断对于采用鹅去氧胆酸进行特异性治疗至关重要。
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