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Pyridoxine-dependent seizures in an older child
1Department of Pediatrics, Niigata City General Hospital, Niigata, Japan. yos@seagreen.ocn.ne.jp
Insights
Pyridoxine-dependent seizures, a rare condition, require lifelong treatment. This case highlights the importance of continued pyridoxine (Vitamin B6) supplementation, even in older children, to prevent recurrent seizures.
Area of Science:
- Neurology
- Pediatrics
- Clinical Case Study
Background:
- Pyridoxine-dependent seizures are a rare genetic disorder often presenting in neonates and infants.
- Standard antiepileptic drugs are frequently ineffective in managing these seizures.
- The critical role of pyridoxine (Vitamin B6) in treating this condition is established, but lifelong management needs further emphasis.
Purpose of the Study:
- To report a case of pyridoxine-dependent seizures in an older child.
- To review existing literature on pyridoxine-dependent seizures, focusing on older patients.
- To underscore the necessity of lifelong pyridoxine supplementation.
Main Methods:
- Detailed clinical case report of a 12-year-old girl with a history of status epilepticus since birth.
- Review of previously reported cases of pyridoxine-dependent seizures, with an emphasis on age of presentation and treatment duration.
- Analysis of seizure response to pyridoxine administration and withdrawal.
Main Results:
- The patient experienced status epilepticus refractory to conventional antiepileptic drugs, with complete seizure cessation only upon pyridoxine administration.
- Recurrent status epilepticus occurred upon pyridoxine withdrawal, resolving with re-administration, indicating a clear dependency.
- Despite treatment, the patient developed cognitive and motor deficits, including mental retardation and mild spastic diplegia.
Conclusions:
- Pyridoxine-dependent seizures can manifest beyond infancy and require lifelong management.
- Pediatricians must consider pyridoxine supplementation as a critical, potentially lifelong, treatment for pyridoxine-dependent seizures.
- Early and continuous pyridoxine administration is essential to prevent neurological sequelae.
Abstract:
The case of a 12-year-old girl with pyridoxine-dependent seizures is reported. She developed status epilepticus just after birth and ordinary antiepileptic drugs were administered without effect. Her seizures ceased only on the administration of pyridoxine. Status epilepticus associated with the withdrawal of pyridoxine occurred three times, and ceased only after the renewed administration of pyridoxine. She now has mental retardation and mild spastic diplegia. The reported cases of pyridoxine-dependent seizures usually have been neonates and infants. Older patients were not fully investigated, and so we have reviewed these cases of pyridoxine-dependent seizures. As known previously, pediatricians should not forget that pyridoxine should be continued for life.