Hunter syndrome

Juvenile form (early-onset, severe form):

• mental deterioration
• severe mental retardation
• aggressive behavior
• hyperactive

• mild to no mental deficiency

• coarse facial features
• large head (macrocephaly)
• stiffening of joints
• increased hair (hypertrichosis)
• deafness (progressive)
• enlargement of internal organs such as liver and spleen
• abnormal retina (back of the eye)
• carpal tunnel syndrome

Signs of the disorder that the doctor might look for include:

• hepatomegaly (enlargement of liver)
• splenomegaly (enlargement of spleen)
• inguinal hernia
• spasticity
• heart murmur and leaky heart valves
• joint contractures
• excretion of heparan sulfate and dermatan sulfate in urine
• decreased iduronate sulfatase enzyme activity in serum or cells

• urine for heparan sulfate and dermatan sulfate
• enzyme study, decreased iduronosulfate sulfatase (may be studied in serum, WBCs, fibroblasts)
• genetic testing may show mutation in the iduronate sulfatase gene

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