Mannosidosis: a study of two patients, presenting clinical heterogeneity

Clin Neurol Neurosurg. 1987;89(3):185-92. doi: 10.1016/s0303-8467(87)80053-7.

Abstract

Two unrelated patients suffering from mannosidosis, aged 9 and 33 years, are reported, presenting two extremes in the phenotypic expression of this lysosomal storage disorder. Clinical, radiological, biochemical and therapeutical aspects of the disease are discussed. Our patients support the concept that mannosidosis is not a homogeneous syndrome but manifests wide clinical heterogeneity.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Female
  • Humans
  • Male
  • Mannosidases / analysis
  • Radiography
  • alpha-Mannosidosis / diagnostic imaging
  • alpha-Mannosidosis / pathology*
  • alpha-Mannosidosis / physiopathology

Substances

  • Mannosidases