Bilateral Thalamic Hyperdensities – A Diagnostic Feature of Sandhoff’s Disease
SYEEDA SHOWKAT1, ABISHEK POKHREL2, BISHWAJIT BHOWMIK3, SHAHRYAR NABI4,SHAIKH MD NURUZZAMAN5, ANINDITA DATTA6
Abstract:
Sandhoff disease is a rare but severe autosomal recessive disease caused by deficiency of lysosomal enzyme hydrolase β-hexosaminidase A and β- hexosaminidase B. Here we present a case of 14 months old baby admitted with complaints of headache and blurring of vision.CT scan of brain showed bilateral symmetrical hyperdensities in both thalamic regions.Enzymatic essays showed deficiency of both hexosaminidase A and hexosaminidase B confirming the diagnosis of Sandhoff’s disease.
Keywords: Autosomal recessive disease, Computed Tomography, Thalamic hyperdensity