Infantile convulsion suspected of pyridoxine responsive seizures.
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. Foamy cells were found in the lymph nodes, but not in the brain. Observed in the kidneys were substances deposited in the glomeruli and Bowman's capsules and materials in the tubular lumen.
D001921:Brain / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011736:Pyridoxine / Q000627:therapeutic use; D012640:Seizures / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D026681:Vitamin B 6 Deficiency / Q000150:complications* / Q000235:genetics
D011736:Pyridoxine