Disease progress in a patient with pyridoxine-dependent epilepsy, who was diagnosed at 12 months of age

Abstract

Background

Pyridoxine-dependent epilepsy (PDE) classically presents as neonatal seizures that are resistant to antiseizure medications (ASMs), but responsive to pyridoxine (vitamin B6). Clinical symptoms of patients with PDE are often diverse and non-specific. In addition, electroencephalography (EEG) and magnetic resonance imaging (MRI) findings in the brain are not fully understood.

Case presentation

Here, we report the case of a patient diagnosed with PDE at 12 months of age. A few hours after birth, the patient presented with various types of abnormal movements, including jerky, clonic, and spasmoid movements. Although burst suppression was obvious in the EEG during the early neonatal period, it disappeared, and only a dysmorphic pattern was observed after 2 weeks of age, without pyridoxine treatment. Because abnormal movements were sometimes resistant to ASMs, oral administration of pyridoxine was initiated at 1 month of age. However, this effect was not significant. Therefore, it was determined that there was no pyridoxine dependence, and pyridoxine was discontinued. Abnormal movements were remarkable after 2 months of age. EEG again showed burst suppression. MRI of the brain revealed progressive white matter atrophy. At 12 months of age, genetic testing revealed an ALDH7A1 mutation, which led to the diagnosis of PDE.

Conclusion

The characteristic abnormal movement in our case was spasmoid movement. Further investigation of EEG correspondence of the spasmoid movement is required. Burst suppression is a well-known EEG finding in PDE, but is not specific to PDE. Our case suggests that burst suppression severity varies depending on the time period.