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Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine
E Grillo1, R J da Silva, J H Barbato
1Hospital Infantil Joana de Gusmio, Serviço de Neurologia, Florianópolis SC, Brasil. egrillo@matrix.com.br
Insights
Pyridoxine dependency causes infant seizures, often requiring high vitamin B6 doses. This case highlights successful treatment with very low doses, suggesting potential diagnostic challenges.
Area of Science:
- Pediatric Neurology
- Nutritional Neuroscience
Background:
- Pyridoxine dependency is a rare genetic disorder causing intractable seizures in newborns.
- Treatment typically involves high doses of pyridoxine (vitamin B6).
Observation:
- A male infant presented with seizures from birth, responsive to pyridoxine.
- Seizures ceased with very low daily doses (0.5 mg) of pyridoxine within a multivitamin supplement.
- The infant experienced coma, hypotonia, and irregular breathing when pyridoxine was administered via enteral tube, unlike typical intravenous administration reactions.
Findings:
- Successful seizure control was achieved with significantly lower pyridoxine doses (0.08–0.16 mg/kg/day) than previously reported.
- Enteral administration of pyridoxine led to adverse neurological events, a presentation unusual for this route.
Implications:
- Very-low-dose pyridoxine in multivitamin supplements may mask or delay the diagnosis of pyridoxine-dependent seizures.
- Clinical presentation and route of administration can influence the manifestation of pyridoxine toxicity or efficacy.
- Further research is needed to understand optimal dosing and administration routes for pyridoxine dependency.
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.