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