GM2 Gangliosidosis. Childhood and juvenile form of Sandhoff disease. Hexosaminidase A and B deficiency.
Incidence
Very rare. AR disease.
Clinical Characteristics
It has been observed in a few children with clinical pictures similar to that of childhood GM2 gangliosidosis but there is equal absence of hexosaminidase B and almost total absence of hexosaminidase A.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-W, EB-F. There is equal absence of hexosaminidase B and almost total absence of hexosaminidase A.