MPS II. Hunter disease.
Incidence
20% of Hurler. X-linked recessive (only boys). It is a Iduronosulfate sulfatase deficiency. There is a mild form and a severe form.
Clinical Characteristics
Similar to Hurler but less severe. Moderate mental retardation, marked skeletal deformities, no corneal cloudeness, early deafness, marked somatic changes. Dwarfism, noisy breathing, hepatomegaly, splenomegaly, stiff joints, nodules in scapular skin area Cardiac involvement. Mild spine deformity. Nerve entrapments syndromes are common. Moderate hydrocephalus.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB(F), vacuolated lymphocytes and in basophilic cells in bone marrow, azurophilic granules in leukocytes, Urine metabolic screen with Berry test. MPS (HS) in urine.