2019年3月28日
[An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures].
Rinsho shinkeigaku = Clinical neurology
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- 巻
- 59
- 号
- 3
- 開始ページ
- 144
- 終了ページ
- 148
- 記述言語
- 日本語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.5692/clinicalneurol.cn-001228
A 21-year-old woman presented with a chief complaint of generalized tonic-clonic seizures occurring once a month at night since the age of 14. The patient was treated with clonazepam plus levetiracetam, but seizure frequency was not reduced. After the detailed re-examination of her history of illness, it was revealed that she has been suffering from transient and recurrent choreoathetoid attacks triggered by sudden voluntary movements since she was a junior high school student, and it recently increased in frequency. Neither she nor her family recognize that it was significant to describe to the doctors. She was diagnosed as a complex of paroxysmal kinesigenic choreoathetosis (PKC) and its related conditions. Direct sequencing of proline-rich transmembrane protein 2 (PRRT2) revealed the most frequently described gene mutation, (NM_145239.2:c.649dupC), among PRRT2-related paroxysmal disorders. PKC and seizures were readily controlled with small dose of carbamazepine. Given the broad spectrum of PRRT2-related paroxysmal disorders, assessment of potential clinical complication of paroxysmal disorders including PKC might therefore be critical.
- リンク情報
- ID情報
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- DOI : 10.5692/clinicalneurol.cn-001228
- ISSN : 0009-918X
- PubMed ID : 30814447