Maroeteaux-Lamy syndrome I

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An uncommon disorder of mucopolysaccharide marked by dwarfism, hearing loss, and progressive skeletal deformity, etc.

Description

An uncommon disorder of mucopolysaccharide metabolism due to a deficiency of the enzyme aryl sulphatase B. Clinical features are dwarfism, hearing loss, and progressive skeletal deformity (lumbar kyphosis, genu valgum), hydrocephalus (some cases), valvular disease of the heart and often enlargement of the liver and spleen; clouding of cornea. Hips severely involved. In the severe form onset is at 2 to 4 years, with death by the age of 20 years. Occurs in a severe and a mild form. The mild form, with onset at the age of 5 to 7 years, has a longer life expectancy. The intelligence is normal in both types. Both sexes affected.

Bibliography

  • P. Maroteaux, B. Levéque, J. Marie, M. Lamy: Une nouvelle dysostose avec élimination urinaire de chondroitine-sulfat B.
    La presse médicale, Paris, 1963, 71: 1949-1851.
  • P. Maroteaux, M. Lamy:
    Hurler’s disease, Morquio’s disease, and related mucopolysaccharidoses.
    Journal of Pediatrics, St. Louis, 1965, 67: 312-323.

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