Tay-Sachs Disease in Two Iranian Identical Male Twins; A Case Report

Background Tay-Sachs disease is an autosomal-recessive lysosomal storage metabolic disorder. The typical symptoms of the disease include ataxia, muscle weakness, and mental disorders. The severity of the clinical symptom relies on the enzymatic activity of residual Hexosaminidase-A. Case Presentation The patients were two Iranian (Tabriz city, East Azerbaijan Province, Iran) 22-month-old male identical twins of distant consanguineous parents with a high Apgar who score referred to Tabriz Children Hospital, Tabriz, Iran. Both twins had normal growth until 7 months of age. They started regression after 7 months of age and became hypotonic so that they could not keep their neck and control their head. The enzyme analysis of the patients showed the low-level activity of Hexosaminidase-A. A considerable delay in normal myelination process was discovered by brain Magnetic Resonance Imaging in the patients. Conclusion It can be determined that Tay-Sachs disease can occur in twins of distant consanguineous parents. Further studies are needed for detecting the mutations relating to the disease in the patients as well as their families.

کلیدواژه ها:

Hexosaminidase-A ، Tay-Sachs Disease ، Twins