The mucopolysaccharidoses comprise a heterogeneous group of at least seven lysosomal storage diseases. The most familiar to radiologists are Hurler and Morquio syndromes, but the remaining five include: Hunter, Sanfilippo, Scheie, Maroteaux-Lamy, and Sly syndromes. Each represents a defect in a specific lysosomal storage enzyme responsible for mucopolysaccharide degradation. Thus, there is buildup of mucopolysaccharides. All are autosomal recessive in transmission except for Hunter disease, which is X-linked.
Hurler syndrome, also known as "gargoylism" represents a defect in the alpha-L-iduronidase enzyme, leading to excess chondroitin sulfate B and hepatosplenomegaly. The incidence is 1 in 10,000 births. The affected are short-trunk dwarfs with marked neurologic compromise. Premature blindness is common. Most children with Hurler syndrome die by age 20.
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Morquio syndrome represents a defect in the N-acetylgalactosamine-6-sulfate sulfatase enzyme, leading to excess keratin sulfate. The incidence is 1 in 40,000 births. These children have no mental retardation, but are short-trunk dwarfs. The main source of morbidity lies in subluxation at the C1-2 level and progressive deafness. Patients tend to live longer than those with Hurler syndrome and are not blind.
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