[Galactosialidosis with Kayser-Fleischer's ring]

Arch Fr Pediatr. 1992 Mar;49(3):193-5.
[Article in French]

Abstract

The case of a 4 year-old boy presenting with dysmorphic facies, hepatomegaly, splenomegaly, growth and psychomotor retardation is reported. Radiological pattern suggested a storage disease. Bone marrow differential cell count showed numerous storage cells with vacuolated lymphocytes. Enzymatic studies showed decreased beta-galactosidase and neuraminidase levels, leading to the diagnosis of galactosialidosis. This is the first Tunisian case reported, which differs from the other cases published by the presence of a Kayser-Fleischer ring.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Diseases / complications
  • Bone Marrow Diseases / pathology
  • Child, Preschool
  • Eye Diseases / complications*
  • Growth Disorders / complications*
  • Growth Disorders / diagnostic imaging
  • Hepatomegaly / complications*
  • Humans
  • Male
  • Neuraminidase / deficiency*
  • Psychomotor Disorders / complications
  • Radiography
  • Splenomegaly / complications
  • beta-Galactosidase / deficiency*

Substances

  • Neuraminidase
  • beta-Galactosidase