title: Type 2 Gaucher's disease in a Malian family.
abstract: Gaucher's disease is a recessive autosomal disorder caused by an inherited deficiency of betaglucocerebrosidase. We report here the case of an 8 month old child, fourth in a family of four children, who presents the neuropathic form of the disease. The dosages of betaglucosidase activity using C (14 ) techniques have confirmed the diagnosis, and allowed the detection of the disease in the elder brother. Both parents were considered as responsible for the transmission of this disease to their progeny. The type 2 Gaucher's disease is rare in black population, and may be associated with phenotypes heterogeneity.
authors.affiliation: Neurologie Hôpital du Point G.
authors.forename: Moussa
authors.initials: M
authors.lastname: Traoré
authors.forename: Mariam
authors.initials: M
authors.lastname: Sylla
authors.forename: Jeannette
authors.initials: J
authors.lastname: Traoré
authors.forename: Toumani
authors.initials: T
authors.lastname: Sidibé
authors.forename: Guinto Cheick
authors.initials: GC
authors.lastname: Oumar
mesh_terms: D001741:Black or African American; D044383:Black People; D005776:Gaucher Disease; D006801:Humans; D027923:Sambucus; D035781:Siblings; D001617:beta-Glucosidase
chemical_list: D001617:beta-Glucosidase