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Report of two Cases of Tay–Sachs in Children of a Single Family
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N Sharifi    1, R Rahimani2 , F Mardani3 , F Adelizadeh3 |
1- Student Research Committee, Gonabad University of Medical Sciences, Gonabad, Iran , sharifin921@gmail.com
2- Social Development and Health Promotion Research Center, Gonabad University of Medical Sciences, Gonabad, Iran,
3- Student Research Committee, Gonabad University of Medical Sciences, Gonabad, Iran |
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Abstract: (3692 Views) |
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.
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| Keywords: Tay–Sachs disease, Hexosaminidase Deficiency, GM2 ganglioside, Red Cherry Spots |
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Full-Text [PDF 125 kb]
(914 Downloads)
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Type of Study: case report |
Subject:
Clinical
Received: 2018/07/24 | Accepted: 2019/06/10 | Published: 2019/07/6
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