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G M1 Gangliosidosis Type 2 in Two Siblings

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Pinar T. Ozand, MD, PhD

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Robert E. Erwin, BS, MS

Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

A sister and brother, now aged 7 and 9 years, presented with developmental arrest, gait disturbance, dementia, and a progressive myoclonic epilepsy syndrome with hyperacusis in the second year of life. Then, spastic quadriparesis led to a decerebrate state. In the absence of macular or retinal degeneration, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis together with sea-blue histiocytes in bone marrow biopsies and deficient β-galactosidase activity but normal glucosidase, hexosaminidase, and neuraminidase activity on lysosomal enzyme assays constitutes the clinical-pathologic-biochemical profile of G_M1 gangliosidosis type 2. This is a rare, late infantile onset, progressive gray-matter disease in which β-galactosidase deficiency is largely localized to the brain, though it can be demonstrated in leukocytes and cultured skin fibroblasts. It must be distinguished from the Jansky-Bielschowsky presentation of neuronal ceroid lipofuscinosis, mitochondrial encephalopathy, lactic acidosis, strokelike episodes (MELAS) and myoclonic epilepsy with ragged-red fibers (MERRF) syndromes, atypical presentations of G_M2 gangliosidoses (Tay-Sachs and Sandhoff's diseases), primary sialidosis (neuraminidase deficiency), galactosialidosis, and Alpers' disease. (J Child Neurol 1992;7(Suppl):S41-S50.)

Journal of Child Neurology, Vol. 7, No. 1 Suppl, S41-S50 (1992)
DOI: 10.1177/08830738920070010711


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