[Voluminous nodular splenomegaly in Gaucher disease: a case report].
Patients affected by type 1 Gaucher disease (an autosomal recessive inheritance lysosome storage disorder) develop nodular splenomegaly in 20 to 30% of cases where imiglucerase therapy proves ineffective. The lack of response to imiglucerase therapy on spleen nodules could be an indication of the existence or development of a malignant spleen. We report a 47-year-old man with Gaucher disease who presented with a voluminous splenic nodule, in whom therapy was delayed. Regular monitoring of patients is the most important factor to predict and therefore prevent morbidity.
Rozé
B
B
Service de médecine interne et maladies infectieuses, centre hospitalier intercommunal de Cornouaille, Quimper, France. benoit_roze@yahoo.fr
Lambert
Y
Y
Potard
M
M
Rizcallah
M J
MJ
Hutin
P
P
D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D013154:Spleen / Q000473:pathology; D013163:Splenomegaly / Q000209:etiology*