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Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too.
Chidambaram, Aakash Chandran; Talwar, Milan; Kasinathan, Ananthanarayanan; Gulati, Reena; Selvan, Tamil.
Afiliación
  • Chidambaram AC; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
  • Talwar M; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
  • Kasinathan A; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
  • Gulati R; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
  • Selvan T; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
J Pediatr Genet ; 12(1): 73-75, 2023 Mar.
Article en En | MEDLINE | ID: mdl-36684551
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Screening_studies Idioma: En Revista: J Pediatr Genet Año: 2023 Tipo del documento: Article País de afiliación: India Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Screening_studies Idioma: En Revista: J Pediatr Genet Año: 2023 Tipo del documento: Article País de afiliación: India Pais de publicación: Alemania