A clinical and genetic study of Hunters syndrome. 2 Differences between the mild and severe forms

摘要

Comparison of the disease course in patients with the severe and mild forms of Hunter's syndrome indicates that the severely affected boys show a higher incidence of behavioural disorder, diarrhoea, convulsions, and terminal cachexia. It is proposed that all of these differences may be attributed to the underlying neurodegeneration which characterises the severe form of the disease. A means of predicting the ultimate disease outcome in a young isolated case is presented.