GEORGE R. THOMPSON, M.D., F.A.C.P.; NORMAN A. NELSON, M.D.; C. WILLIAM CASTOR, M.D., F.A.C.P.; S. LOUISE GROBELNY, M.S.
A 48-year-old woman had many of the features associated with the mucopolysaccharidoses. These included short stature, mental retardation, pectus carinatum, shortened fourth metacarpal, congenital dislocation of the hip, and unusual configuration of the lumbar vertebrae. Hepatomegaly and peripheral corneal deposits resembling arcus senilis were present. Peripheral leukocytes contained basophilic granulation. She had a 24-hour urinary excretion of over 50 mg of mucopolysaccharide, which was found to be predominately chondroitin-4 sulfate. This patient represents a new variant of the recognized mucopolysaccharidoses.
THOMPSON GR, NELSON NA, CASTOR CW, GROBELNY SL. A Mucopolysaccharidosis with Increased Urinary Excretion of Chondroitin-4 Sulfate. Ann Intern Med. 1971;75:421–426. doi: 10.7326/0003-4819-75-3-421
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Published: Ann Intern Med. 1971;75(3):421-426.
Hospital Medicine, Neurology.
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