A Case Report of Sandhoff Disease
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : R. Saouab · M. Mahi · R. Abilkacem · H. Boumdin · S. Chaouir · O. Agader · T. Amil · A. Hanine
- چاپ و سال / کشور: 2011
Description
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 T1-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
Clin Neuroradiol (2011) 21:83–85, Received: 30 May 2010 / Accepted: 9 September 2010 / Published online: 10 December 2010 © The Author(s) 2010. This article is published with open access at Springerlink.com
