日本未熟児新生児学会雑誌　第20巻　第2号　89～94頁（2008年）

日本未熟児新生児学会雑誌　20(2)：281-286；2008　

受付日：平成19．09．26

受理日：平成20．02．04

在胎28週の早産児に発症したビタミンB6依存性けいれんの一例

A Case of Preterm Infant with Vitamin B6 Dependent Seizure

＊1東京女子医科大学病院　小児科，＊2同　母子総合医療センター新生児部門，＊3同　乳児行動発達学教室

＊1 Department of Pediatrics，Tokyo Woman’s Medical University Hospital，＊2 Department of Neonatology Maternal and Perinatal Center，Tokyo Woman’s Medical University，＊3 Department of Infant’s Brain and Cognitive Development，Tokyo Women’s Medical University

大塚素子＊1・小保内俊雅＊2・増本健一＊2・青柳裕之＊2・山﨑千佳＊2・佐久間　泉＊2・平澤恭子＊3・楠田　聡＊2・仁志田博司＊2・大澤真木子＊1

Motoko OTSUKA＊1，Toshimasa OBONAI＊2，Kenichi MASUMOTO＊2，Hiroyuki AOYAGI＊2，Chika YAMASAKI＊2， Izumi SAKUMA＊2，Kyoko HIRASAWA＊3，Satoshi KUSUDA＊2，Hiroshi NISHIDA＊2，Makiko OSAWA＊1

Key Words：Vitamin B6，seizure，preterm

　28週で出生し，生後3日より発症したビタミンB6（以後VitB6とする）依存性けいれんの一例を経験した。調べうる限りこれまでに34週未満の早産児例の報告はなく，我々の症例が最も若い早産児例である。発作形式，脳波所見上の異常波の特徴はこれまでに報告されているVitB6依存性けいれんの症例に矛盾しない経過であった。本症は母体内発症例が複数報告されており，我々の症例から胎齢28週より母体内発症する可能性があり，生後の早期診断・治療開始にもかかわらず知的予後不良例が少なくないこととの関連が示唆された。

　A case of preterm infant with Vitamin B6 dependent seizure, who was born at 28 weeks of gestational age and developed generalized seizure on 3 day of age is reported. This is the first reported preterm infant with Vitamin B6 dependent seizure who was born before 34 gestational weeks as far as we know, although there are more than hundred cases of the disease in literature. Even though the infant was born prematurely, and showed clinical seizure and abnormal electroencephalogram（EEG）at early neonatal period, they were consisted with findings previously reported in term infants. Some infants with this disorder have been reported that the symptoms might exist even before birth. This speculation is confirmed by the present case, because even the preterm infant born at 28 weeks of gestational age developed typical clinical abnormalities. The onset of symptoms before birth could explain in some part why infants with this disorder frequently show poor neurodevelopmental outcomes in spite of early treatment after birth.