《英文msh詞典》Adult Sandhoff Disease
[入口詞] Adult Sandhoff Disease
[主題詞] Sandhoff Disease
[英文釋義] An autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A & B (see BETA-N-ACETYLHEXOSAMINIDASE) which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs. Clinical manifestations resemble TAY-SACHS DISEASE,but the disease is not limited to Askenazi Jews and may feature hepatosplenomegaly. The infantile form presents in the first 4 months of life with psychomotor delay,hypotonia followed by spasticity,and cherry red spots in the macula. Rare juvenile and adult forms have been reported. (From Menkes,Textbook of Child Neurology,5th ed,p92)