Mogami Yukiko, Suzuki Yasuhiro, Murakami Yoshiko, Ikeda Tae, Kimura Sadami, Yanagihara Keiko, Okamoto Nobuhiko, Kinoshita Taroh
Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Osaka.
Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka.
Epileptic Disord. 2018 Feb 1;20(1):42-50. doi: 10.1684/epd.2018.0956.
Inherited glycosylphosphatidylinositol anchor deficiency causes a variety of clinical symptoms, including epilepsy, however, little information is available regarding seizures as a symptom. We report three siblings with inherited glycosylphosphatidylinositol anchor deficiency with PIGL gene mutations. The phenotypes of the subjects were not consistent with CHIME syndrome or Mabry syndrome, as reported in previous studies. All shared some clinical manifestations, including transient apnoea as neonates, dysmorphic facial features, and intellectual disability. Between one week and 3 months of life, all patients developed myoclonic seizures. Myoclonic jerks were easily evoked by sudden unexpected acoustic or tactile stimuli. None showed elevation of serum alkaline phosphatase. Vitamin B was given to one of the three siblings, but failed to suppress seizures. The presence of early infancy-onset stimulation-induced myoclonic seizures combined with dysmorphic facial features should lead physicians to consider the possibility of inherited glycosylphosphatidylinositol anchor deficiency.
遗传性糖基磷脂酰肌醇锚定蛋白缺乏症会引发多种临床症状，包括癫痫，然而，关于癫痫作为一种症状的信息却很少。我们报告了三名患有遗传性糖基磷脂酰肌醇锚定蛋白缺乏症且携带PIGL基因突变的兄弟姐妹。这些受试者的表型与先前研究中报道的CHIME综合征或马布里综合征不一致。所有患者都有一些共同的临床表现，包括新生儿期的短暂呼吸暂停、面部畸形特征和智力障碍。在出生后1周龄至3个月龄之间，所有患者均出现肌阵挛性癫痫发作。突然意外的听觉或触觉刺激很容易诱发肌阵挛性抽搐。所有患者血清碱性磷酸酶均未升高。三名兄弟姐妹中的一人接受了维生素B治疗，但未能抑制癫痫发作。婴儿早期出现刺激诱发的肌阵挛性癫痫发作并伴有面部畸形特征，这应促使医生考虑遗传性糖基磷脂酰肌醇锚定蛋白缺乏症的可能性。
