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AB variant G_M2 gangliosidosis

Cerebrospinal fluid and neuropathologic characteristics

Departments of Neurology (Drs. Kotagal, Gomez, and Horenstein) and Pathology (Dr. Alcala), St. Louis University Medical Center, St. Louis, MO; and the Department of Pediatrics (Dr. Wenger), University of Colorado Health Sciences Center, Denver, CO.

A child with AB variant G_M2 gangliosidosis who had progressive intellectual deterioration and seizures commencing at the age of 12 months is described. Neuronal loss, and neuronal and astrocytic inclusions characteristic of the gangliosidoses, were seen on cortical biopsy. G_M2 ganglioside was detected in the CSF. As CNS ganglioside accumulation in this condition occurs in the presence of normal leukocyte hexosaminidase A and B levels, spinal fluid assay for G_M2 ganglioside may serve as a valuable aid in diagnosis.

Address correspondence and reprint requests to Dr. Kotagal, Division of Pediatric Neurology, Department of Neurology, St. Louis University Medical Center, 3660 Vista, St. Louis, MO 63110.

Supported in part by grants from NIH (HD08315 and AM 33170) and a Clinical Research Grant No. 6–413 from the March of Dimes Birth Defects Foundation (DAW).

Presented in part at the thirty-seventh annual meeting of the American Academy of Neurology, Dallas, TX, April 1985.

Accepted for publication July 26, 1985.

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