INFANTILE CONVULSION SUSPECTED OF PYRIDOXINE RESPONSIVE SEIZURES

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Abstract
A 6‐month‐old boy, having suffered repeated convulsive seizures since birth, died of severe epilepsy, the disease remaining unknown. However, when a brother, born after the death of the present case, displayed the same clinical symptoms and was diagnosed clinically as having pyridoxine dependent convulsion, the deceased became suspected of having been a case of familial pyridoxine dependency. Pathologically, bilateral cerebellar hemorrhages were found accompanied by subdural and subarachnoidal hemorrhages. Histologically, neuronal loss and diffuse astrocyte hyperplasia were found hi the brain: Beside marginal gliosis, proliferations of astroglia and glial fibers were found, especially hi the pons, medulla oblongata, and cervical cord, although the fibrillary gliosis may be representative for a physiological intermediate state. Foamy cells were found in the lymph nodes, but not hi the brain. Observed hi the kidneys were substances deposited hi the glomeruli and Bowman's capsules and materials hi the tubular lumen.