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Case Reports
. 2017 Jan-Mar;12(1):78-79.
doi: 10.4103/1817-1745.205623.

Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation

Vykuntaraju K Gowda  1 , Raghavendraswami Amoghimath  1 , Varun M Srinivasan  1 , Maya Bhat  2
Affiliations
Case Reports

Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation

Vykuntaraju K Gowda et al. J Pediatr Neurosci. 2017 Jan-Mar.

Abstract

Sandhoff disease is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and seizures from 6 months of age. The child had coarse facies without hepatosplenomegaly. Serum levels of β hexosaminidase total (A + B) were low. Genetic testing for Sandhoff disease revealed a homozygous missense variant on HEXB gene. The case is presented to highlight that the absence of hepatosplenomegaly should not restrain in suspecting Sandhoff disease.

Keywords: Cherry red spot; Sandhoff disease; hepatosplenomegaly; hexosaminidase; hexosaminidase B gene.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Axial T2-weighted imaging showing hyperintensity of the basal ganglia (long white arrow) and hypointensity of the ventral thalami (open arrow)
See this image and copyright information in PMC

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