Mucopolysaccharidosis type VII (β-glucuronidase deficiency): a report of a new case and a survey of those in the literature

A new case of mucopolysaccharidosis type VII ( β -glucuronidase deficiency) is described which presented with relatively mild clinical symptoms including disproportionate dwarfism, sternal protrusion, slight hepatomegaly and a small hernia. Facial features were not coarse and no neurological abnormalities were present. Urinary analysis revealed an increased excretion of chondroitin 4– and 6– sulphates. β- glucuronidase activity was virtually absent in serum and cultured fibroblasts. The results, together with a clinical follow-up of a previous case, are compared with the few cases described in the literature.