MPS VI. Maroteaux-Lamy disease.
Incidence
Rare. AR inheritance. It is a N-acetylgalactosamine-4-sulfatase deficiency. Variable severity.
Clinical Characteristics
Severe skeletal deformities, gross corneal opacity, no or very mild mental retardation. Marked dwarfism. Lumbar kyphosis, protrusion of sternum. Genu valgum. Abnormal facial appearence. Gargoil features but less than Hurler. Hepatomegaly. Splenomegaly. The main neurological complication is spinal compression at cervical level, which may produce quadriplegia. This is related to thickening of the meninges, difficult to treat surgically.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB(F), Urine metabolic screen with Berry test. MPS (DS) in urine.