Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too

Abstract

Pyridoxine-dependent epilepsy (PDE) (OMIM 266100) is an autosomal recessive disorder of lysine metabolism secondary to antiquitin deficiency. The prototypical presentation is intractable neonatal seizures that do not respond to conventional antiseizure medication but are well controlled by pyridoxine supplementation. Atypical forms account for one-third of the PDE spectrum and may escape early diagnosis. The common atypical presentations include the prenatal onset of seizures, seizures onset as delayed as 3 years of age, autism, arrested hydrocephalus, and fetal ventriculomegaly. Herein, we describe a 9-month-old child with neonatal-onset refractory seizures who failed two short trials of pyridoxine therapy and was later diagnosed with PDE by molecular studies. Regardless of the therapeutic response, a prolonged course of pyridoxine therapy is justified to identify delayed responders in infants with drug-refractory epilepsy of no apparent etiology.

Keywords

pyridoxine dependent epilepsy - pyridoxine - ALDH7A1 - antiquitin

Authors' Contributions

A.C.C. supported in patient management and writing the draft of manuscript. M.T. involved in patient management, writing the draft of manuscript, and review of literature. R.G. and T.S. dedicated in patient management, critical review of manuscript for important intellectual content, and final approval of the version to be published. T.S. performed as guarantor for the paper. A.K. contributed as a clinician in charge, conceived the concept of study, and carried out the critical review of manuscript for important intellectual content. T.S. cooperated in patient management, critical review of manuscript for important intellectual content, and final approval of the version to be published.

Note

An informed consent form was signed by the parents of the patient to approve the use of patient information or material for scientific purposes. The patient identity has not been disclosed anywhere in the manuscript and does not contain any identifiable images.

Publication History

Received: 06 September 2020

Accepted: 12 October 2020

Article published online:
07 December 2020

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