جستجوی مقالات مرتبط با کلیدواژه « بیماری تی ساکس » در نشریات گروه « پزشکی »

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.

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.

 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.

Tay-Sachs disease is a rare autosomal recessive disorder of sphingolipid metabolism, caused by deficiency of enzyme ß hexosaminidase A, that leads to accumulation of GM2 ganglioside in cellular lysosomes. Clinical findings are progressive weakness, gradual loss of aquired neuromotor skills, and deterioration of intelligence from about 3 to 6 months of age, as well as seizure attacks and blindness. There is also evidence on progressive neurodegeneration. In most of the patients bilateral cherry red spot were reported on funduscopy. In this report, we present two patients with Tay-Sachs disease, which are confirmed by enzyme assay. In both of them ß hexosaminidase A activity were strongly decreased.