A Case Report of Sandhoff Disease

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 epil...

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Bibliographic Details
Published in:Clinical neuroradiology (Munich) 2011-06, Vol.21 (2), p.83-85
Main Authors: Saouab, R., Mahi, M., Abilkacem, R., Boumdin, H., Chaouir, S., Agader, O., Amil, T., Hanine, A.
Format: Article
Language:English
Subjects:
Brain - diagnostic imaging
Case reports
Consanguinity
Correspondence
Diagnosis, Differential
Diagnostic imaging
Dominance, Cerebral - physiology
Gangliosides
Hexosaminidase A - metabolism
Hexosaminidase B - metabolism
Humans
Infant
Magnetic Resonance Imaging
Male
Medicine
Medicine & Public Health
Neurology
Neuroradiology
Neurosurgery
Sandhoff Disease - diagnosis
Sandhoff Disease - genetics
Thalamus - diagnostic imaging
Tomography, X-Ray Computed
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Summary: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.
ISSN:1869-1439
1869-1447
DOI:10.1007/s00062-010-0035-4