GM2 Gangliosidosis

GM2 gangliosidosis are neurodegenerative disorders, charecterized with hexosaminidase or GM2 activator protein deficiency. All are transmitted by autosomal recessive inheritance. Hexosaminidase activity measurement is necessary for the diagnosis. A five-year old girl is referred to our clinic with hypotonia, neuromotor retardation, course facial feature and hepatosplenomegaly. Her parents are relatives and with these features storage disease is thought. Hexosaminidase deficiency is found with blood leukocyte enzym analyse and GM2 ganglisidosis diagnosis is made. Gangliosidosisses are rare diseases. Relative mariages are common in our country. With this case report we want to pay attention to the patients with neuromotor retardation and hepatosplenomegaly, gangliosis must be thought in the differential diagnosis. Because there isn’t any effective therapy, prenatal diagnosis is essential for the disease.

GM2 Gangliosidoz