[Type 3 Gaucher disease, also an adult disease?]

Rev Med Interne. 2018 Jul;39(7):589-593. doi: 10.1016/j.revmed.2018.03.005. Epub 2018 Mar 31.
[Article in French]

Abstract

Introduction: Gaucher disease is a genetic lysosomal storage disorder due to a glucocerebrosidase deficiency. Type 3, including neurological impairment, may have a specific phenotype in the context of the D409H mutation.

Observation: We report the case of a 22-year-old woman who presented with Gaucher disease. Enzyme replacement therapy by imiglucerase was followed by rapid clinical and biological improvement. However, communication difficulties, which were initially attributed to the language barrier, revealed neurological impairment. After complementary assessment, the diagnosis of type 3 Gaucher disease was suspected. Gene analysis of the glucocerebrosidase showed a homozygous D409H mutation.

Conclusion: This mutation results in calcified heart valves, corneal opacities, alteration of oculomotricity and hydrocephalus. The mild manifestation at onset and the late neurological involvement in the medical history make the diagnosis more difficult. This particular clinical phenotype deserves to be known in adult medicine departments.

Keywords: D409H mutation; Maladie de Gaucher de type 3; Mutation D409H; Type 3 Gaucher disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age Factors
  • Age of Onset
  • Female
  • Gaucher Disease / diagnosis*
  • Gaucher Disease / genetics
  • Humans
  • Mutation, Missense
  • Young Adult