Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia.

We 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 fragmentation). The activity of GUSB in the patient's serum, leukocytes, and fibroblasts was severely decreased; the GUSB activity in the serum and leukocytes from the parents and 2 asymptomatic sibs was subnormal. Immunoblot analysis showed very low levels of cross-reactive material towards anti-GUSB antiserum in the patient's leukocyte and fibroblast extracts. This patient was more severely affected in his skeleton than other described patients with an oligosymptomatic chronic form. This case broadens the clinical and biochemical picture associated with GUSB deficiency and may represent a new variant of the disease.

[Hepatobiliary ascaridiasis in childhood: echographic diagnosis]. / L'ascaridiasi epatobiliare nell'infanzia: diagnostica ecografica.

Ascaris lumbricoides infestation in the liver and biliary tract causes various clinical manifestations due to the migration of larvae and adult organisms. Parasites in the bile ducts cause obstruction and such complications as cholecystitis, cholangitis and liver abscesses. We report the US findings of biliary ascaridiasis as observed in a series of 13 children over a 3-year period. The patients (6 females and 7 males) presented hepatosplenomegaly, abdominal distension, right subcostal pain; 3 of 13 exhibited subicteric features and fever. The US features of Ascaris lumbricoides infestation are: hyperechoic linear images due to parasites within the dilated bile ducts, target images; mobile hyperechoic linear images within the gallbladder; intrahepatic abscesses with different features and sizes. Microscopic sections of hepatic tissue show inflammatory infiltration around the Ascaris eggs. Emergency surgery is sometimes to be performed. The value of US, as we assessed it, has been already stressed by other authors.