A case report of sandhoff disease

Abstract

Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of S andhoff disease. A case of an 18-month-old infant admitted for psychomotor regression and drug resistant myoclonic epilepsy is presented. Cerebral CT scan showed bilateral and symmetrical thalamic hyperdensity. MRI revealed that the thalamus was hyperintense on T 1-weighted images and hypointense on T2-weighted images with a hypersignal T2 of the white matter. Enzymatic assays objectified a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease. © The Author(s) 2010.