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September 1982

Triosephosphate Isomerase Deficiency: A Case Report With Neuropathological Findings

Author Affiliations

From the Divisions of Neurology (Dr Clay) and Hematology-Oncology (Dr Shore), Department of Pediatrics, and the Department of Pathology (Dr Landing), Children's Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles. Dr Clay is now with the Department of Neurology, Louisiana State University School of Medicine, Shreveport.

Am J Dis Child. 1982;136(9):800-802. doi:10.1001/archpedi.1982.03970450042011

• 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).

(Am J Dis Child 1982;136:800-802)