RT - Journal Article T1 - A case report and review of sandhoff diseases in gachsaran city JF - RJMS YR - 2017 JO - RJMS VO - 24 IS - 160 UR - http://rjms.iums.ac.ir/article-1-4042-en.html SP - 37 EP - 40 K1 - sandhoff K1 - hexose aminidase B K1 - cherry red spot AB - 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. LA eng UL http://rjms.iums.ac.ir/article-1-4042-en.html M3 ER -