Mesenteric mass in a young girl--an unusual site for Gaucher's disease.
We report the first case of a child with Gaucher's disease and a large mesenteric mass, confirmed histologically to be Gaucher's cell infiltrates. We describe the radiological findings and discuss further management. The advent of enzyme replacement therapy has prolonged survival and the emergence of previously undocumented manifestations of the disease is being observed. The radiologist and clinician should be alert to the possible development of these new problems and the fact that in Gaucher's disease a palpable right upper-quadrant mass need not necessarily represent hepatomegaly.
Department of Radiology, Great Ormond Street Hospital for Children, London, UK. a.lim@ic.ac.uk
Adrian K P
AK
Lim
Ashok
A
Vellodi
Kieran
K
McHugh
D003937:Diagnosis, Differential; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006529:Hepatomegaly / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007223:Infant; D007410:Intestinal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000209:etiology; D007421:Intestine, Small; D008206:Lymphatic Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000209:etiology; D013163:Splenomegaly / Q000175:diagnosis / Q000209:etiology; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography