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Case Reports
. 2011 Jun;21(2):83-5.
doi: 10.1007/s00062-010-0035-4. Epub 2010 Dec 10.

A case report of Sandhoff disease

R Saouab, M Mahi, R Abilkacem, H Boumdin, S Chaouir, O Agader, T Amil, A Hanine
Case Reports

A case report of Sandhoff disease

R Saouab et al. Clin Neuroradiol. 2011 Jun.

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 Sandhoff 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.

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