Iwanami Naoto, Nagaki Shigeru, Gen Aki, Azuma Daisuke, Yamamoto Toshiyuki, Matsunaga Tamotsu
Department of Pediatrics, Toda Chuo General Hospital, Saitama, Japan.
Nagaki Children's Clinic, Tokyo, Japan.
SAGE Open Med Case Rep. 2024 Jul 23;12:2050313X241264959. doi: 10.1177/2050313X241264959. eCollection 2024.
We report three sisters with self-limited familial infantile epilepsy, caused by a mutation in proline-rich transmembrane protein2. Self-limited familial infantile epilepsy has been established as a distinct epileptic syndrome characterized by focal seizures in clusters of infantile-onset. The seizure types of our cases were focal with or without secondary generalization. The seizures manifested at 3-5 months of age, and each lasted 1-2 min. All three sisters fulfilled the criteria for self-limited familial infantile epilepsy, except in one case who showed interictal spikes in the right central area. The seizures were controlled with carbamazepine. When carbamazepine treatment was started, one case developed a rash, and her treatment was switched to valproic acid. However, the seizures persisted in this case such that carbamazepine was restarted. The rash did not recur. Electroencephalography showed spikes in only one case on interictal electroencephalography. All three sisters were developmentally normal, and no dyskinesia was observed during follow-up. All three sisters and their father, but not their mother, had the following pathogenic variant in proline-rich transmembrane protein2: NM_001256442.2(PRRT2): c.649dup[p.(Arg217Profs*8)]. This mutation has been identified in the majority of families with self-limited familial infantile epilepsy, paroxysmal kinesigenic dyskinesia, and/or infantile convulsion and choreoathetosis. Their father had no history of either self-limited familial infantile epilepsy or paroxysmal kinesigenic dyskinesia. The lack of a clear genotype-phenotype correlation was demonstrated in our cases with this proline-rich transmembrane protein2 mutation.
我们报告了三例患有自限性家族性婴儿癫痫的姐妹，该病由富含脯氨酸的跨膜蛋白2突变引起。自限性家族性婴儿癫痫已被确认为一种独特的癫痫综合征，其特征为婴儿期发作的局灶性癫痫发作成簇出现。我们病例的癫痫发作类型为局灶性，有或无继发性全身性发作。癫痫发作于3至5个月大时出现，每次持续1至2分钟。所有三姐妹均符合自限性家族性婴儿癫痫的标准，但有一例在右侧中央区出现发作间期棘波。癫痫发作通过卡马西平得到控制。开始使用卡马西平治疗时，有一例出现皮疹，其治疗改为丙戊酸。然而，该病例的癫痫发作仍持续，因此重新开始使用卡马西平。皮疹未再复发。脑电图仅在一例发作间期脑电图上显示棘波。所有三姐妹发育正常，随访期间未观察到运动障碍。所有三姐妹及其父亲（而非母亲）在富含脯氨酸的跨膜蛋白2中存在以下致病变异：NM_001256442.2(PRRT2): c.649dup[p.(Arg217Profs*8)]。在大多数患有自限性家族性婴儿癫痫、阵发性运动诱发性运动障碍和/或婴儿惊厥和舞蹈手足徐动症的家族中都发现了这种突变。他们的父亲既没有自限性家族性婴儿癫痫病史，也没有阵发性运动诱发性运动障碍病史。在我们这些携带富含脯氨酸的跨膜蛋白2突变的病例中，未发现明确的基因型-表型相关性。
