以癫痫为首发症状的早发成年型齿状核红核苍白球路易体萎缩症一例

One case of early adult‑onset dentatorubral‑pallidoluysian atrophy with an onset of epilepsy

报道1例以癫痫为首发症状的早发成年型齿状核红核苍白球路易体萎缩症(DRPLA)患者的临床、电生理、影像学及基因突变特点。该患者为女性,22岁起病,以癫痫为首发症状,逐渐出现小脑性共济失调、认知障碍、舞蹈样动作。脑电图见全头区多发复形慢波。头颅磁共振成像见小脑、脑干、顶枕部皮质萎缩。患者外周血肌萎缩蛋白-1基因CAG重复次数为15/65次。其父亲肌萎缩蛋白-1基因CAG重复次数为14/54次,尚未出现临床症状。其母亲及弟弟基因检测正常。DRPLA临床表现复杂多样、表型异质性高,以癫痫起病的早发成年型少见,基因检测可以明确诊断。

The clinical features,electroneurophysiology,neuroimaging and gene characteristics of one case of early adult‑onset dentatorubral‑pallidoluysian atrophy(DRPLA)with an onset of epilepsy were reported.The female patient had the onset manifestation of epilepsy.Whereafter,she progressively developed marked cerebellar ataxia,mental retardation and choreic movement.Electroencephalography showed that there were multiple complex slow waves in the whole brain cortex.Magnetic resonance imaging showed the patient had marked atrophies in the cerebral cortex,brainstem and cerebellum.Atrophin‑1 gene detection revealed that the numbers of CAG repeats were 15/65(the patient)and 14/54(her father)respectively.Her father had no clinical manifestations until now.The mother and brother were normal.DRPLA has diverse clinical presentation,heterogeneous phenotypic spectrum,early adult‑onset DRPLA is rare,and the specific gene detection can be helpful for a definitive diagnosis.