[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.
Service de médecine interne et maladies infectieuses, centre hospitalier intercommunal de Cornouaille, Quimper, France. benoit_roze@yahoo.fr
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Rozé
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Lambert
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Potard
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Rizcallah
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Hutin
D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D013154:Spleen / Q000473:pathology; D013163:Splenomegaly / Q000209:etiology*