A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations

Yuri Dowa, Takashi Shiihara, Tomoyuki Akiyama, Kosei Hasegawa, Fumitaka Inoue, Mio Watanabe

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


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 f luid 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 ALDH7A1 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.

Original languageEnglish
Pages (from-to)99-103
Number of pages5
JournalOxford Medical Case Reports
Issue number3
Publication statusPublished - 2020

ASJC Scopus subject areas

  • Parasitology
  • Microbiology
  • Infectious Diseases


Dive into the research topics of 'A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations'. Together they form a unique fingerprint.

Cite this