Triosephosphate isomerase deficiency. A case report with neuropathological findings.
A 12-year-old girl had chronic nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency. Developmental and motor delay and muscular weakness were followed by cerebellar dysfunction and finally spasticity with hyperreflexia. Abnormal histopathological findings were hyaline cell bodies and axonal "spheroids" in the hypothalamus and cerebellar cortex, severe neuronal loss in the dentate and olivary nuclei, and partial loss of cerebellar Purkinje's and granular layer cells (olivocerebellar atrophy).
D001921:Brain / Q000473:pathology*; D002238:Carbohydrate Epimerases / Q000172:deficiency*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007031:Hypothalamus / Q000473:pathology; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D010375:Pedigree; D014305:Triose-Phosphate Isomerase / Q000172:deficiency*
D002238:Carbohydrate Epimerases; D014305:Triose-Phosphate Isomerase