Mucopolysaccharidosis Type VII (Beta-Glucuronidase Deficiency): A chronic variant with an oligosymtomatic severe skeletal dysplasia

KREMER R.D.,; GIVOGRI I.,; ARGARAÑA C.E.; HLIBA E.,; CONCI R,; BOLDINI C.D.,; CAPRA A.P.,

WILEY-LISS, INC

Año: 1992 vol. 44 p. 145 - 145

e report on a 20-year-old male with a beta-glucuronidase (GUSB) deficiency mucopolysaccharidosis. He had pectus carinatum, gross thoracic kyphoscoliosis, and hip dysplasia, a picture which became conspicuous after age 4 years. Hepatosplenomegaly, herniae, corneal clouding, and neurological abnormalities were absent. Although he had Alder-type granulations in his polymorphonuclear leukocytes, the urine did not contain a significant excess of mucopolysaccharides. Electron microscopic examination of skin and gingival biopsies, leukocytes, and cultured skin fibroblasts showed numerous single membrane-limited vacuoles either empty or filled with fibrillogranular material; this last tissue did not contain metachromatic granules. Radiographs demonstrated a distinct spondyloepiphyseal dysplasia in which the most striking changes were confined to the thoracic spine (flattening and collapse in T7, T8 and T10 vertebral bodies) and to the femoral capital epiphyses (irregularities and fragmentatio