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Images in Clnical Practice Indian Pediatrics 2000;37: 908 |
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Hunter Syndrome |
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An 8-year-old boy presented with complaints of abdominal pain. On examination the child had brachycephaly, depressed nasal bridge, facial puffiness, protruded tongue and clubbing of all fingers. The child also had massive hepatosplenomegaly and large inguinal hernia (Fig. 1). Cardiovascular and respiratory system examinations were normal. X-ray of wrist joint showed tubular metacarpal and phalanges which are pointed proximally and widened distally. X-ray spine showed tongue shaped antero inferior projec-tion. Urine examination was positive for dermatan and heparan sulfate. Two more male siblings of the patient had similar features while female siblings were normal. Hunter syndrome is a type of mucopoly-saccharoidosis caused by the deficiency of an enzyme iduronosulfate sulfatase. It is trans-mitted as X-linked recessive trait affecting males almost exclusively. This condition should be differentiated mainly from Hurler’s syndrome. Diagnosis is suspected by clinical profile, roentgenographic changes and urine exami-nation for dermatan sulfate and heparan sulfate. Enzyme study showing deficiency of iduronosulfate in serum, WBC and fibroblast confirms the diagnosis. The only hope for management presently is bone-marrow transplantation.
J. Shrivastava, |
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