Sandhoff disease: management
Evidence-based neurology checklist on sandhoff disease: management: Investigations Computerised tomography (CT): bilateral thalamic hyperintensity Magnetic resonance imaging (MRI): T2 thalamic hypointensities Treatment: Miglustat
Investigations
- Computerised tomography (CT): bilateral thalamic hyperintensity
- Magnetic resonance imaging (MRI): T2 thalamic hypointensities
Treatment: Miglustat
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.
