TY - JOUR JF - yums-armaghan JO - armaghanj VL - 24 IS - 3 PY - 2019 Y1 - 2019/7/01 TI - Report of two Cases of Tay–Sachs in Children of a Single Family TT - گزارش دو مورد بیماری تی ساکس در کودکان یک خانواده N2 - Abstract Background & aim: Tay–Sachs is a rare autosomal recessive and neurological disease caused by the accumulation of glycosphingolipid within cell lysosomes. Ganglioside accumulation is caused by a mutation in the beta-hexosaminidase (HEXA) gene and this mutation is reduced by HEXA. The study was to determine and report two cases of TS in a family confirmed by measuring the activity of beta hexosaminidase-A. Case Report: The first case was a 3-year-old girl whose developmental growth was approximately normal until she was 9 months old, after which she developed recurrence and had symptoms of swallowing problems, abnormal eye movements, distraction, irritability and growth retardation. On examination of the patient's eye, bilateral reddish-gray spots were observed. In the evaluation of the patient's blood sample, a defect in the activity of beta hexosaminidase-A was reported and accordingly the diagnosis of Tay–Sachs was confirmed, hence the child died at the age of three. The second case was a 1-year-old boy whose development was normal until 6 months of age, after which his development and growth delayed and had apparent symptoms including distraction, irritability, respiratory problems, muscle weakness and lack of limb control, constipation, deafness, mental retardation and finally regression evolved. On examination of the patient's eye, bilateral reddish-gray stains were observed. In evaluation of blood samples, deficiency in the activity of beta-hexosaminidase-A was reported and accordingly the diagnosis of Tay–Sachs was confirmed. Conclusion: In children with developmental disabilities, who may develop symptoms of progressive weakness, loss of motor skills, increased motor responsiveness, irritability, blindness and hearing loss, seizures and persistent red cherry spots in the eye after a period of time. the diagnosis of Tay–Sachs should be considered. SP - 427 EP - 433 AU - Sharifi, N AU - Rahimani, R AU - Mardani, F AU - Adelizadeh, F AD - Student Research Committee, Gonabad University of Medical Sciences, Gonabad, Iran KW - Tay–Sachs disease KW - Hexosaminidase Deficiency KW - GM2 ganglioside KW - Red Cherry Spots UR - http://armaghanj.yums.ac.ir/article-1-2251-en.html DO - 10.52547/armaghanj.24.3.427 ER -