Sandhoff disease: management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Sandhoff disease: management. Computerised tomography (CT): bilateral thalamic hyperintensity. Fully referenced neurology checklist.
Investigations
- Computerised tomography (CT): bilateral thalamic hyperintensity
- Magnetic resonance imaging (MRI): T2 thalamic hypointensities
Treatment: Miglustat
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References
- Saouab R, Mahi M, Abilkacem R, et al. A case report of Sandhoff disease. Clin Neuroradiol 2011; 21:83-85.
- Tallaksen CM, Berg JE. Miglustat therapy in juvenile Sandhoff disease. J Inherit Metab Dis 2009; 32(Suppl 1):S289-S293.
- Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Substrate deprivation therapy in juvenile Sandhoff disease. J Inherit Metab Dis 2009; 32(Suppl 1):S307-S311.
