Abstract • 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) References 1. Schneider AS, Valentine WM, Hattori M, et al: Hereditary hemolytic anemia with triosephosphate isomerase deficiency . N Engl J Med 1965;272:229-235.Crossref 2. Schneider AS, Valentine WM, Baughan MA, et al: Triosephosphate isomerase deficiency: A. A multi-system inherited enzyme disorder: Clinical and genetic aspects , in Beutler E (ed): Hereditary Disorders of Erythrocyte Metabolism . New York, Grune & Stratton Inc, 1968, pp 265-272. 3. Harris SR, Paglia DE, Jaffe ER, et al: Triosephosphate isomerase deficiency in an adult . Clin Res 1970;18:529. 4. Valentine WN, Schneider AS, Baughan MA, et al: Hereditary hemolytic anemia with triosephosphate isomerase deficiency: Studies in kindreds with coexistent sickle cell trait and erythrocyte glucose-6-phosphate dehydrogenase deficiency . Am J Med 1966;41:27-41.Crossref 5. Schneider AS, Dunn I, Ibsen KH, et al: Triosephosphate isomerase deficiency: B. Inherited triosephosphate isomerase deficiency: Erythrocyte carbohydrate metabolism and preliminary studies of the erythrocyte enzyme , in Beutler E (ed): Hereditary Disorders of Erythrocyte Metabolism . New York, Grune & Stratton Inc, 1968, pp 273-278. 6. Strich S: Pathological findings in three cases of ataxia-telangectasia . J Neurol Neurosurg Psychiatry 1966;29:489-499.Crossref 7. Aguilar MJ, Chadwick DL, Okuyama K, et al: Kinky hair disease: I. Clinical and pathological features . J Neuropathol Exp Neurol 1966;25:507-522.Crossref 8. Kamoshita S, Reed GB, Aguilar MJ: Axonal dystrophy in a case of Canavan's spongy degeneration . Neurology 1967;17:895-898.Crossref 9. Huttenlocher PR, Gilles FH: Infantile neuroaxonal dystrophy: Clinical, pathologic and histochemical findings in a family with three affected siblings . Neurology 1967;17:1174-1184.Crossref 10. Cowen D, Olmstead EV: Infantile neuroaxonal dystrophy . J Neuropathol Exp Neurol 1963;22:175-236.Crossref 11. Sung JH: Neuroaxonal dystrophy in mucoviscidosis . J Neuropathol Exp Neurol 1964;23:567-583.Crossref 12. Schneck SA: Neuropathological features of human organ transplantation: II. Central pontine myelinolysis and neuroaxonal dystrophy . J Neuropathol Exp Neurol 1966;25:18-39.Crossref 13. Park BE, Netsky MG, Betsill WL: Pathogenesis of pigment and spheroid formation in Hallervorden-Spatz syndrome and related disorders . Neurology 1975;25:1172-1178.Crossref 14. Brannon W, McCormick W, Lampert P: Axonal dystrophy in the gracile nucleus of man . Acta Neuropathol 1967;9:1-6.Crossref 15. Sung JH, Stadlan EM: Neuroaxonal dystrophy in congenital biliary atresia . J Neuropathol Exp Neurol 1966;25:341-361.Crossref 16. Lampert P, Blumberg JM, Pentschew A: An electron microscopic study of dystrophic axons in the gracile and cuneate nuclei of vitamin E-deficient rats . J Neuropathol Exp Neurol 1964;23:60-77.Crossref 17. Yonezawa T, Iwanami H: An experimental study of thiamine deficiency in nervous tissue, using tissue culture techniques . J Neuropathol Exp Neurol 1966;25:362-372.Crossref 18. Herman MM, Huttenlocher PR, Bensch KG: Electron microscopic observations in infantile neuroaxonal dystrophy . Arch Neurol 1969;20:19-34.Crossref 19. Schneider AS, Dunn I, Ibsen KH, et al: The pattern of glycolysis in erythrocyte triosephosphate isomerase deficiency . Clin Res 1965;13:282. 20. Sparkes RS, Carrel RE, Paglia DE: Probable localization of a triosephosphate isomerase gene to the short arm of the number 5 human chromosome . Nature 1969;224:397-398.Crossref 21. Bundschu HD, Suchenwirth R, Davis W: Histochemical changes in disuse atrophy of skeletal muscle , in Kakulas BA (ed): Basic Research in Myology . Amsterdam, Excerpta Medica, 1973, pp 108-112. 22. Karpati G, Engel WK: Correlative histochemical study of skeletal muscle after suprasegmental denervation, peripheral nerve section and skeletal fixation . Neurology 1968;18:681-692.Crossref 23. Engel WK, Karpati G: Impaired skeletal muscle maturation following neonatal neurectomy . Dev Biol 1968;17:713-723.Crossref 24. Fenichel GM: Cerebral influence on muscle fiber typing: The effect of fetal immobilization . Arch Neurol 1969;20:644-649.Crossref
American Journal of Diseases of Children – American Medical Association
Published: Sep 1, 1982
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