Dowa Yuri, Shiihara Takashi, Akiyama Tomoyuki, Hasegawa Kosei, Inoue Fumitaka, Watanabe Mio
Department of Neurology, Gunma Children's Medical Centre, Shibukawa, Gunma, Japan.
Department of Child Neurology, Okayama University Hospital, Okayama, Japan.
Oxf Med Case Reports. 2020 May 6;2020(3):omaa008. doi: 10.1093/omcr/omaa008. eCollection 2020 Mar.
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented with pulmonary haemorrhage and convulsions on the day of birth. Brain computed tomography showed diffuse, but mild, low-density cerebral white matter and a thin subdural hematoma in the posterior fossa. He did not have thrombocytopenia or coagulopathy. His respiratory status improved with conservative treatment, but his convulsions were persistent even after prescription of several antiepileptic drugs. His serum and cerebrospinal fluid showed decreased vitamin B6 vitamers and increased upstream metabolites of α-aminoadipic semialdehyde dehydrogenase, strongly suggesting a diagnosis of PDE; the epileptic spasms ceased after administration of intravenous pyridoxal phosphate hydrate. Gene analysis revealed novel compound heterozygous mutations in that included NM_001182.4:[c.1196G > T] and [c.1200 + 1G > A]. Atypical birth asphyxia with persistent neonatal seizure should prompt vitamin B6/metabolite screening.
维生素B6依赖型癫痫（PDE）是一种罕见的常染色体隐性疾病，通常表现为新生儿惊厥，有时难以诊断，因为其临床特征与出生窒息相似。一名日本男婴出生当天出现肺出血和惊厥。脑部计算机断层扫描显示弥漫性但轻度的脑白质低密度以及后颅窝少量硬膜下血肿。他没有血小板减少症或凝血病。经保守治疗后其呼吸状况改善，但即使使用了几种抗癫痫药物，惊厥仍持续存在。他的血清和脑脊液显示维生素B6 vitamers水平降低，α-氨基己二酸半醛脱氢酶的上游代谢产物增加，强烈提示PDE诊断；静脉注射磷酸吡哆醛水合物后癫痫痉挛停止。基因分析揭示了新的复合杂合突变，包括NM_001182.4:[c.1196G>T]和[c.1200+1G>A]。伴有持续性新生儿惊厥的非典型出生窒息应促使进行维生素B6/代谢物筛查。
