T Sachs disease in two children: report two cases

Background and aim: Tachyx is a rare autosomal recessive and neurological disorder caused by glycosfenolipid accumulation (GM2 ganglioside) in cell lysosomes. The accumulation of GM2 ganglioside is due to the mutation in the beta-hexose aminase gene (HEXA), which reduces the activity and deficiency of the HEXA enzyme. The aim of this study was to report 2 cases of T.Sax disease.   Case report: The first case was a 3-year-old girl whose growth and development of her baby was almost normal before the age of 9 months, after which she became obstructed and had symptoms of swallowing, abnormal eye movements, lack of attention to her surroundings, irritability, growth retardation Was . There was a double-glazed red spot in the patient's eye examination. In the evaluation of the patient's blood sample, a defect in the activity of the β-hexosaminidase A enzyme activity was confirmed and the T-socket diagnosis was confirmed. The child died at age 3. The second case is a 1-year-old boy whose growth has been normal to 6 months of age and then has been delayed in development and has apparent symptoms such as lack of attention to others, irritability, respiratory problems, muscle relaxation and lack of control. Organs, constipation, deafness, mental retardation and retardation. There was a double-glazed red spot in the back of the eye. In the evaluation of the blood sample, a defect in the activity of the β-hexosaminidase A enzyme was confirmed and the T-socket diagnosis was confirmed. Conclusion: In children with natural growth that after some time suffered from any progressive weakness, loss of motor skills, increased motor response, irritability, blindness and hearing loss, seizure and the presence of red spots in the bottom Eyes should be diagnosed Tysax disease.