Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation

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 hepatosple...

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Bibliographic Details
Published in:J Pediatr Neurosci
Main Authors: Gowda, Vykuntaraju K., Amoghimath, Raghavendraswami, Srinivasan, Varun M., Bhat, Maya
Format: Artigo
Language:Inglês
Published: Medknow Publications & Media Pvt Ltd 2017
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Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5437798/
https://ncbi.nlm.nih.gov/pubmed/28553389
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.205623
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