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NEUROLOGY 1981;31:719
© 1981 American Academy of Neurology

Type 2 GM1 gangliosidosis with long survival and neuronal ceroid lipofuscinosis

J. A. Lowden, J. W. Callahan, R. A. Gravel, M. A. Skomorowski, L. Becker and J. Groves

From the Research Institute (Drs. Lowden, Callahan, Gravel, and Skomorowski) and the Deparment of Pathology (Dr. Becker), The Hospital for Sick Children, Toronto, and the Department of Pathology (Dr. Groves), Hamilton General Hospital, Hamilton, Ontario, Canada.

Neurologic deterioration began in a girl before age 2 years. By 4 she was spastic and decerebrate. GM1 gangliosidosis was diagnosed by absence of ß-galactosidase activity in leukocytes and fibroblasts. She died at 17 years. Her small brain contained only 2.61 µmole glycolipid N-acetylneuraminic acid per gram, and was filled with autofluorescent material. GM1 gangliosidosis was confirmed by the presence of membranous cytoplasmic bodies, by the absence of ß-galactosidase, and by failure of complementation when the patient's fibroblasts were fused with cells from other forms of GM1 gangliosidosis. The autofluorescent material probably accumulated because of the long survival rather than the primary enzyme defect.

Address correspondence and reprint requests to Dr. Lowden, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1x8.

This work was supported in part by the Medical Research Council, PG-4 to J.A.L., J.W.C., and R.A.G.

Accepted for publication August 21, 1980.






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