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Long-term follow-up of an individual with vitamin B6-dependent seizures
Y Ohtsuka1, J Hattori, T Ishida
1Department of Child Neurology, Okayama University Medical School, Japan.
Insights
Vitamin B6-dependent epilepsy, a rare genetic disorder, can manifest with visual seizures. Early vitamin B6 supplementation is crucial for managing this condition and ensuring normal intellectual development.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Vitamin B6-dependent epilepsy is a rare inherited metabolic disorder.
- It is characterized by pyridoxine (vitamin B6) responsive seizures presenting in the neonatal period.
Observation:
- A 31-year-old female with a history of neonatal-onset vitamin B6-dependent epilepsy experienced recurrent visual seizures upon vitamin B6 withdrawal at age 12.
- Her electroencephalogram (EEG) showed a photoparoxysmal response and spontaneous spike-wave bursts, with myoclonic seizures triggered by photic stimulation.
Findings:
- Visual seizures were a prominent feature in this patient.
- Despite the recurrence of seizures after vitamin B6 withdrawal, the patient maintained a relatively benign clinical course.
- Normal intellectual outcome was observed in this case.
Implications:
- This case highlights the importance of lifelong vitamin B6 supplementation for managing vitamin B6-dependent epilepsy.
- The distinct presentation of visual seizures and favorable intellectual outcome underscore the variability in clinical manifestations.
- Further research into the specific mechanisms underlying vitamin B6-dependent epilepsy is warranted.
Abstract:
We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period. At the age of 12 years 1 month, 2 months after withdrawal of vitamin B6, visual seizures began to occur frequently. Myoclonic seizures and occasional generalized convulsive seizures were also observed. At the same time, photoparoxysmal response and spontaneous diffuse spike-wave bursts were seen on her EEG. Myoclonic seizures were provoked by intermittent photic stimulation during the EEG. It is distinctive that visual seizures were one of the main seizure types in this patient, that her clinical course was relatively benign, and that she has normal intellectual outcome.