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Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine.

Abstract

We report on a male infant with pyridoxine dependency and seizures from birth, controlled with pharmacological doses of pyridoxine at 4 months of age. Seizures stopped between 30 and 80 days of age when very-low doses of pyridoxine were given in a multivitamin supplement. Daily dose was 0.5 mg that corresponded to 0.08 to 0.16 mg/kg/day when weight gain is considered. In previous reports doses have ranged from 0.2 to 30 mg/kg/day. Another distinctive feature was that this infant went into a coma and developed hypotonia and irregular breathing when pyridoxine was given by enteral tube which has usually been reported when the vitamin is given intravenously. Use of low doses of pyridoxine in multivitamin supplements could be a confounding factor for early diagnosis and appropriate treatment of pyridoxine-dependent seizures.

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  • Authors+Show Affiliations

    ,

    Hospital Infantil Joana de Gusmio, Serviço de Neurologia, Florianópolis SC, Brasil. egrillo@matrix.com.br

    ,

    Source

    MeSH

    Age Factors
    Body Weight
    Coma
    Confounding Factors (Epidemiology)
    Developmental Disabilities
    Drug Monitoring
    Electroencephalography
    Enteral Nutrition
    Epilepsies, Myoclonic
    Genes, Recessive
    Humans
    Infant
    Male
    Metabolism, Inborn Errors
    Muscle Hypotonia
    Pyridoxine
    Respiration Disorders

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    11409831

    Citation

    Grillo, E, et al. "Pyridoxine-dependent Seizures Responding to Extremely Low-dose Pyridoxine." Developmental Medicine and Child Neurology, vol. 43, no. 6, 2001, pp. 413-5.
    Grillo E, da Silva RJ, Barbato JH. Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine. Dev Med Child Neurol. 2001;43(6):413-5.
    Grillo, E., da Silva, R. J., & Barbato, J. H. (2001). Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine. Developmental Medicine and Child Neurology, 43(6), pp. 413-5.
    Grillo E, da Silva RJ, Barbato JH. Pyridoxine-dependent Seizures Responding to Extremely Low-dose Pyridoxine. Dev Med Child Neurol. 2001;43(6):413-5. PubMed PMID: 11409831.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine. AU - Grillo,E, AU - da Silva,R J, AU - Barbato,J H,Jr PY - 2001/6/21/pubmed PY - 2001/7/6/medline PY - 2001/6/21/entrez SP - 413 EP - 5 JF - Developmental medicine and child neurology JO - Dev Med Child Neurol VL - 43 IS - 6 N2 - We report on a male infant with pyridoxine dependency and seizures from birth, controlled with pharmacological doses of pyridoxine at 4 months of age. Seizures stopped between 30 and 80 days of age when very-low doses of pyridoxine were given in a multivitamin supplement. Daily dose was 0.5 mg that corresponded to 0.08 to 0.16 mg/kg/day when weight gain is considered. In previous reports doses have ranged from 0.2 to 30 mg/kg/day. Another distinctive feature was that this infant went into a coma and developed hypotonia and irregular breathing when pyridoxine was given by enteral tube which has usually been reported when the vitamin is given intravenously. Use of low doses of pyridoxine in multivitamin supplements could be a confounding factor for early diagnosis and appropriate treatment of pyridoxine-dependent seizures. SN - 0012-1622 UR - https://www.unboundmedicine.com/medline/citation/11409831/full_citation L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0012-1622&date=2001&volume=43&issue=6&spage=413 DB - PRIME DP - Unbound Medicine ER -