The same is true for most diseases of genetic origin in which. Hurler alejandra tobn camilo tobn juan pablo sierra juliana soto juliana villaruel. Hurler aldo ivn hernndez ruiz mucopolisacaridosis mps. A baby will show few signs of the disorder at birth but within a few months once molecules begin to build up in the cells symptoms begin. The diagnosis is based on a certain number of clinical features. Hurler syndrome or hurler disease is the historical term for the most severe version of mps.
The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ. Hurler syndrome, also known as mucopolysaccharidosis type ih mpsih, hurler s disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans aka gags, or mucopolysaccharides in lysosomes. The authors report two unusual cases of hunterhurlers syndrome. It is not necessary to find the complete clinical picture, as described by others, to reach the diagnosis. Hsct should be performed early in the disease course, before developmental deterioration. Scribd is the worlds largest social reading and publishing site. Hematopoietic stem cell transplantation hsct is the treatment of choice for patients with hurler syndrome under 2.