K Miyasaki, J Matsumoto, S Murao, K Nakamura, S Yokoyama, M Hayano, H Nakamura
A 6-month-old boy, having suffered repeated convulsive siezures 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 in the brain: Beside marginal gliosis, proliferations of astroglia and glial fibers were found, especially in the pons, medulla oblongata, and cervical cord, although the fibrillary gliosis may be representative for a physiological intermediate state...
September 1978: Acta Pathologica Japonica