Type 3�gaucher disease, also an adult disease?
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Type 3�gaucher disease, also an adult disease?
Auteur(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]
Titre de la revue :
La Revue de medecine interne
Nom court de la revue :
Rev Med Interne
Date de publication :
2018-03-30
ISSN :
1768-3122
Mot(s)-clé(s) en anglais :
Type 3 Gaucher disease
D409H mutation
D409H mutation
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [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: ...
Lire la suite >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.Lire moins >
Lire la suite >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.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Collections :
Date de dépôt :
2024-01-30T10:27:27Z