[A rare etiology of spinal cord compression: Gaucher disease].
Gaucher's disease is a sphingolipidosis transmitted as an autosomal trait. Bone lesions are frequent in type 1 of the disease (i.e. the adult type without neurological manifestation). We report the case of a 70-year old woman suffering from spinal lesions with vertebral collapse and spinal cord compression. Our diagnosis was based on the finding in bone samples of Gaucher cells looking like large macrophages, and on the enzymatic assay of glucocerebrosidase. New treatments, such as replacement of the deficient enzyme by placental glucocerebrosidase, are currently being evaluated.
Clinique Médicale Propédeutique et Médecine Tropicale, Hôpital Saint-André, Bordeaux.
D
D
Neau
P
P
Mercier
K
K
Bouabdallah
J M
JM
Vital
P
P
Fialon
M
M
Longy-Boursier
M
M
Le Bras
D000368:Aged; D005260:Female; D005776:Gaucher Disease / Q000150:complications*; D006801:Humans; D013117:Spinal Cord Compression / Q000209:etiology*; D013122:Spinal Diseases / Q000209:etiology