日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
〒162-0801東京都新宿区山吹町358-5アカデミーセンター Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Pediatric Cardiology and Cardiac Surgery 32(4): 338-343 (2016)
doi:10.9794/jspccs.32.338

症例報告Case Report

2度目の失神後の発作間欠期に脳波異常を認め,局在関連てんかんの合併が疑われた先天性QT延長症候群の1例Congenital Long QT Syndrome Associated with Localization-related Epilepsy: Interictal Electroencephalogram Abnormalities Detected after the Second Syncope

1国立弘前病院小児科Department of Pediatrics, Hirosaki National Hospital ◇ Aomori, Japan

2弘前大学医学部附属病院小児科Department of Pediatrics, Hirosaki University School of Medicine ◇ Aomori, Japan

受付日:2016年3月9日Received: March 9, 2016
受理日:2016年5月31日Accepted: May 31, 2016
発行日:2016年7月1日Published: July 1, 2016
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QT延長症候群(LQTS)は,致死的不整脈であるTorsade de Pointes(TdP)による失神とともに強直間代性けいれんを伴う場合があり,脳波異常の有無にかかわらずてんかんと誤診される症例が少なくない.症例は失神歴のない7歳男児.小学校1年時の心電図検診でQT延長を指摘され,姉もQT延長を指摘されていたことから遺伝子検査を施行したところ,姉弟ともに同じKCNQ1ミスセンス変異を認めLQTS1型と診断された.運動制限とβ遮断薬の投与で経過観察されたが,10歳と12歳時にともに就眠時に意識消失を伴う強直性けいれんを認めた.いずれも意識回復は速やかで,TdTは同定されなかった.1度目の発作後の脳波は異常なかったが,2度目の発作後の脳波で左側中心側頭部領域にspikeを認めた.発作の間隔や頻度を勘案し,意識回復は速やかで神経学的後遺症も遺していないことから,抗てんかん薬を投与せずに経過をみたところ,以後2年間発作はみられていない.本症例の2度の失神発作は,典型的には主として運動を契機に発症するとされるLQTS1型の発作とは異なり,発作間欠時脳波所見から局在関連てんかんの合併が疑われた.失神歴を有するもTdPが同定されていないLQTSに対して脳波検査を繰り返し施行し,脳波異常の有無を明確にすることは,抗てんかん薬を含む適切な薬物療法を提供し,不適切な運動管理指導を回避する上で有意義である.

In long QT syndrome (LQTS), torsade de pointes (TdP) sometimes develops syncope into epileptiform convulsion. Therefore, LQTS is often misdiagnosed as epilepsy, regardless of electroencephalography (EEG) findings. A school-based electrocardiographic screening program identified a 7-year-old boy who showed QT prolongation without any episodes of syncope. His sister, who was 2 years older, also showed QT prolongation. Gene analysis showed KCNQ1 mutation (LQTS type 1). We started administration of beta-blocker and recommended exercise restriction. At 10 and 12 years of age, the patient experienced episodes of syncope and tonic seizure on falling asleep. He recovered quickly from the syncope episodes, and TdP was not recognized at any point. Interictal EEG showed no seizure-related discharge after the first episode. However, some spikes were evident in the left centrotemporal area after the second episode. Subsequently, He has not presented with syncope or seizure without antiepileptic drugs for two years. The syncope episodes appeared to differ from typical LQTS type 1 attacks, which are mainly triggered by exercise and might have been associated with localization-related epilepsy. This suggests that in cases of LQTS without definite TdP, we should repeatedly evaluate EEG and seizure-related discharge to ensure that adequate pharmacotherapy (including antiepileptic drugs) is provided and inadequate exercise guidance is avoided.

Key words: congenital long QT syndrome; localization related epilepsy; interictal electroencephalogram; syncope

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