青少年亨廷顿舞蹈病表现为难治性癫痫发作和首发精神病。
Juvenile Huntington's disease presenting as difficult-to-treat seizure and the first episode of psychosis.
机构信息
Department of Psychiatry, Taichung Veterans General Hospital, Taichung City, Taiwan.
出版信息
Gen Hosp Psychiatry. 2012 Jul-Aug;34(4):436.e9-11. doi: 10.1016/j.genhosppsych.2012.02.008. Epub 2012 Mar 27.
OBJECTIVE
The objective was to describe a case of juvenile Huntington's disease that first presented with seizures and psychosis.
METHODS
A male patient with no history of epilepsy and psychiatric disorder had his first seizure at the age of 20 years, which was followed by 3 years of psychotic disorder.
RESULTS
Laboratory investigations were normal, and mild diffuse cortical atrophy was detected using magnetic resonance imaging. Both the seizures and psychosis were difficult to treat. Three years later, chorea and personality changes appeared. Genetic tests revealed an expanded allele with 60 CAG repeats, confirming the typical Huntington's disease characteristic.
CONCLUSION
Patients with difficult-to-treat seizures and the first episode of psychosis should be considered for the diagnosis of juvenile Huntington's disease.
目的
描述一例以癫痫发作和精神病为首发表现的青少年亨廷顿病病例。
方法
患者为男性，无癫痫和精神疾病病史，20 岁时首次发作癫痫，随后出现 3 年的精神病。
结果
实验室检查正常，磁共振成像显示轻度弥漫性皮质萎缩。癫痫发作和精神病均难以治疗。3 年后出现舞蹈病和人格改变。基因检测显示 60 个 CAG 重复的扩增等位基因，证实为典型的亨廷顿病特征。
结论
对于治疗困难的癫痫发作和首发精神病的患者，应考虑诊断为青少年亨廷顿病。
Zotero 插件