GM2 Gangliosidosis. Early infantile form. Sandhoff disease. Hexosaminidase A and B deficiency.
Incidence
It is an autosomal recessive disorder caused by deficiency of hexosaminidase A and B. There is no ethnic predominance. Jewish are not affected. The clinical characteristics are very similar to Tay-Sachs. It is much rarer than Tay-Sachs disease.
Clinical Characteristics
Sandhoff disease is an autosomal recessive disorder caused by deficiency of hexosaminidase A and B. There is no ethnic predominance. The clinical characteristics are very similar to Tay-Sachs disease regarding age of onset, duration, neurological and ophthalmological symptoms. Infants with Sandhoff disease often show mild hepatomegaly, some thickening of alveolar ridges and radiographic evidence of very mild dysostosis multiplex in addition to all features of Tay-Sachs disease, including macrocephaly and typical macular cherry red spots. The enzyme deficiency of both hexosaminidases A and B is easy demonstrated in plasma, leukocytes or fibroblasts. There may be also N-acetylglucosamine-containing oligosaccharides in urine and foam cells in the bone marrow. No specific treatment is available.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-W, EB-F. The enzyme deficiency of both hexosaminidases A and B is easy demonstrated in plasma, leukocytes or fibroblasts. There may be also N-acetylglucosamine-containing oligosaccharides in urine and foam cells in the bone marrow.