Volume 24, Issue 160 (10-2017)
RJMS 2017, 24(160): 37-40 |
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taghizadeh H, taghizadeh E. A case report and review of sandhoff diseases in gachsaran city. RJMS 2017; 24 (160) :37-40
URL: http://rjms.iums.ac.ir/article-1-4042-en.html
URL: http://rjms.iums.ac.ir/article-1-4042-en.html
Mashhad University of Medical Sciences, Mashhad, Iran , eskandar.taghizadeh@yahoo.com
Abstract: (6936 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.
Type of Study: case report |
Subject:
Genetic
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