Kunii Yasuto, Matsuda Nozomu, Yabe Hirooki
Department of Neuropsychiatry, Fukushima Medical University School of Medicine, Fukushima, Japan.
Department of Neuropsychiatry, Aizu Medical Center, School of Medicine, Fukushima Medical University, Fukushima, Japan.
Neuropsychiatr Dis Treat. 2017 Aug 16;13:2181-2184. doi: 10.2147/NDT.S142457. eCollection 2017.
Paroxysmal kinesigenic dyskinesia (PKD) is a rare heritable neurologic disorder characterized by attacks of involuntary movement induced by sudden voluntary movements. No previous reports have described cases showing comorbidity with psychiatric disease or symptoms. In this case, we showed a patient with PKD who exhibited several manifestations of anxiety disorder.
A 35-year-old Japanese man with PKD had been maintained on carbamazepine since he was 16 years of age without any attacks. However, 10 years before this referral, he became aware of a feeling of breakdown in his overall physical functions. He had then avoided becoming familiar with people out of concern that his physical dysfunctions might be perceived in a negative light. One day he was referred by the neurologic department at our hospital to the Department of Psychiatry because of severe anxiety and hyperventilation triggered by carbamazepine. We treated with escitalopram, aripiprazole, and ethyl loflazepate. Both his subjective physical condition and objective expressions subsequently showed gradual improvement. At last, the feelings of chest compression and anxiety entirely disappeared. Accordingly, increases in plasma monoamine metabolite levels were observed, and the c.649dupC mutation, which has been found in most Japanese PKD families, was detected in his proline-rich transmembrane protein 2 gene.
This is the first report to describe psychiatric comorbidities or symptoms in a PKD case. The efficacy of psychotropic medication used in this case, the resulting changes in plasma monoamine metabolite levels, and the recent advances in the molecular understanding of PKD suggested slight, but widespread alterations to the neurotransmitter systems in the brain.
发作性运动诱发性运动障碍（PKD）是一种罕见的遗传性神经系统疾病，其特征是突然的自主运动诱发不自主运动发作。此前尚无报告描述其与精神疾病或症状共病的病例。在本病例中，我们展示了一名患有PKD且表现出多种焦虑症表现的患者。
一名35岁患有PKD的日本男性，自16岁起一直服用卡马西平，未出现任何发作。然而，在此次就诊前10年，他开始意识到自己的整体身体机能出现崩溃感。此后，由于担心自己的身体功能障碍会被负面看待，他避免与他人熟悉。有一天，他因卡马西平引发的严重焦虑和过度通气，被我院神经科转诊至精神科。我们使用艾司西酞普兰、阿立哌唑和氯氮䓬乙酯进行治疗。随后，他的主观身体状况和客观表现都逐渐改善。最后，胸闷和焦虑感完全消失。因此，观察到血浆单胺代谢物水平升高，并且在他的富含脯氨酸的跨膜蛋白2基因中检测到了在大多数日本PKD家族中发现的c.649dupC突变。
这是第一份描述PKD病例中精神共病或症状的报告。本病例中使用的精神药物的疗效、血浆单胺代谢物水平的变化以及PKD分子理解的最新进展表明，大脑中的神经递质系统存在轻微但广泛的改变。
