THE NATURAL HISTORY OF THE SEVERE FORM OF HUNTER'S SYNDROME: A STUDY BASED ON 52 CASES

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Abstract
During a national survey of Hunter''s syndrome, 52 boys with the severe form were ascertained. The average ages of onset and death were 2.47 and 11.77 yr, respectively. Most patients had a large head and short stature. Persistent diarrhea was noted in 65% of the patients. Seventy-six percent had an umbilical hernia. Right and left inguinal herniae were noted in 51 and 32%, respectively. Evidence of cardiovascular disease was found in 65% of cases; serious lower respiratory-tract disease occurred in 84%. Induction of anesthesia proved difficult or impossible in 5 boys. The disease pattern was dominated by the effects of neurological involvement with initial developmental delay and behavioral disturbance, followed by regression, with convulsions and pyramidal tract signs. Death was due primarily to this neurodegenerative cachexia, with superimposed respiratory disease.