Síndrome de Hunter-Hurler

[摘要] The authors report two unusual cases of Hunter-Hurler's syndrome. The diagnosis is based on a certain number of clinical features. It is not necessary to find the complete clinical picture, as described by others, to reach the diagnosis. The same is true for most diseases of genetic origin in which one observes the transmission of only a few clinical signs, which are generally insufficient to characterize the disease completely; however, sufficient clinical signs are usually present to suggest the proper diagnosis. In case 1 the authors call attention to the following findings: a peculiar grotesque face, stunted growth, clow-like hand, typical def.ormation of the lumbar region of the spine and the considerably retarded psychomotor development; a paternal cousin of this patient died at the age of 12 years from similar disease. In case 2, characteristic clinical signs were represented by a typical face, short stature, retarded mental development, and an ophtal-moscopic pattern suggesting corneal opacities. No treatment was given in the two reported cases.