Volume 24, Issue 160 (10-2017)                   RJMS 2017, 24(160): 37-40 | Back to browse issues page

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Mashhad University of Medical Sciences, Mashhad, Iran , eskandar.taghizadeh@yahoo.com
Abstract:   (6640 Views)
Sandhoff is a rare genetic disease with autosomal recessive inheritance, caused by deficiency in hexosaminidase B enzyme. Symptoms usually begin 6 months after birthday and include developmental delay, visual impairment, seizures, and cherry red spots in the eyes. In this report we present a patient with Sandhoff disease which is confirmed by enzyme assay and molecular methods.
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Type of Study: case report | Subject: Genetic

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