title: Pyridoxine-dependent seizures: a case report and a critical review of the literature.
abstract: Pyridoxine-dependent seizures are a recognized, although rare, cause of intractable seizures in neonates. Patients with this autosomal recessive disorder have recurrent seizures that are resistant to conventional anticonvulsants but respond dramatically to intravenous administration of pyridoxine. Life-long supplementation with pyridoxine is required to prevent seizure recurrence. In the absence of a biological marker for the disease, clinical diagnosis is often delayed and severe neurological sequelae are common. Herein, we report on the clinical course of a neonate with pyridoxine-dependent seizures. Delayed normalization of the electroencephalogram and a normal developmental outcome (at 15 months of age) on a dose of 10 mg/kg pyridoxine are distinctive features of the present case. We also review recent clinical observations and neurochemical studies that have added to our knowledge of this disorder.
authors.affiliation: Neonatal Division, Department of Paediatrics, Dr Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: V K
authors.initials: VK
authors.lastname: Gupta
authors.forename: D
authors.initials: D
authors.lastname: Mishra
authors.forename: I
authors.initials: I
authors.lastname: Mathur
authors.forename: K K
authors.initials: KK
authors.lastname: Singh
mesh_terms: D004569:Electroencephalography; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis; D011736:Pyridoxine / Q000378:metabolism* / Q000627:therapeutic use*; D012008:Recurrence; D012640:Seizures / Q000151:congenital / Q000175:diagnosis / Q000188:drug therapy*; D016896:Treatment Outcome
chemical_list: D011736:Pyridoxine