Open AccessINFANTILE CONVULSION SUSPECTED OF PYRIDOXINE RESPONSIVE SEIZURES
Author(s) -
Miyasaki Kichihei,
Matsumoto Junji,
Murao Shinichi,
Nakamuba Kazushige,
Yokoyama Sumiyoshi,
Hayano Masayoshi,
Nakamura Hajime
Publication year - 1978
Publication title -
acta patholigica japonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
ISSN - 0001-6632
DOI - 10.1111/j.1440-1827.1978.tb00913.x
Subject(s) - gliosis , medicine , convulsion , pathology , medulla oblongata , epilepsy , pons , astrogliosis , glial fibrillary acidic protein , anatomy , central nervous system , immunohistochemistry , psychiatry
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.