Case 1 History ---- This was a 17 year old male with Hunter syndrome who first presented at age 3 with severe developmental delay, frequent upper respiratory infections and congenital heart disease with both mitral and aortic insufficiency. At the age of 5.5 years cross-correction studies performed by Dr Elizabeth Neufeld established the diagnosis of Hunter syndrome. His later course was characterized by increased muscle tone, clonus and hyperactive reflexes with a long history of seizures beginning at age 5 which were well controlled on Dilantin. CT examination showed cortical atrophy and ventricular dilatation. At the end of his life he required a feeding gastrostomy for maintenance of nutrition. At autopsy his brain weighed 860 grams.
