Type 2 Gaucher's disease in a Malian family.
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.
Traoré
Moussa
M
Neurologie Hôpital du Point G.
Sylla
Mariam
M
Traoré
Jeannette
J
Sidibé
Toumani
T
Oumar
Guinto Cheick
GC
D001741:Black or African American; D044383:Black People; D005776:Gaucher Disease; D006801:Humans; D027923:Sambucus; D035781:Siblings; D001617:beta-Glucosidase
D001617:beta-Glucosidase