Type 3�gaucher disease, also an adult disease?
Document type :
Article dans une revue scientifique: Article original
PMID :
Permalink :
Title :
Type 3�gaucher disease, also an adult disease?
Author(s) :
Leurs, Amelie [Auteur]
Chepy, A. [Auteur]
Detonellaere, C. [Auteur]
Pascal, Laurent [Auteur]
Gallois, P. [Auteur]
Tran, T.-A.-C. [Auteur]
Caillaud, C. [Auteur]
Hatron, Pierre-Yves [Auteur]
Rose, C. [Auteur]
Chepy, A. [Auteur]
Detonellaere, C. [Auteur]
Pascal, Laurent [Auteur]
Gallois, P. [Auteur]
Tran, T.-A.-C. [Auteur]
Caillaud, C. [Auteur]
Hatron, Pierre-Yves [Auteur]
Rose, C. [Auteur]
Journal title :
La Revue de medecine interne
Abbreviated title :
Rev Med Interne
Publication date :
2018-03-30
ISSN :
1768-3122
English keyword(s) :
Type 3 Gaucher disease
D409H mutation
D409H mutation
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
BACKGROUND: 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.
METHODS: ...
Show more >BACKGROUND: 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. METHODS: 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. CONCLUSIONS: 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.Show less >
Show more >BACKGROUND: 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. METHODS: 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. CONCLUSIONS: 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.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Collections :
Submission date :
2024-01-30T10:27:27Z