title: Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease.
abstract: Protein-losing enteropathy due to massive mesenteric lymphadenopathy is a rare complication of Gaucher disease which is generally refractory to treatment with enzyme replacement and substrate reduction therapies. It is postulated that lymph nodes may act as a "sanctuary site" into which these treatments cannot penetrate. We present the case of a male child with Gaucher disease who developed massive mesenteric lymph nodes despite otherwise successful treatment with enzyme replacement therapy, and subsequently developed protein-losing enteropathy. The sonographic and magnetic resonance appearances of this complication are shown. Large volume lymphadenopathy inevitably provokes concern about the possibility of malignancy, but in a patient with Gaucher disease-particularly with significant ascites and clinical features of protein-losing enteropathy-this rare complication should be considered.
authors.affiliation: *Department of Paediatric Radiology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust †CRIC Bristol, University of Bristol, Bristol, UK.
authors.forename: Ewan A
authors.initials: EA
authors.lastname: Simpson
authors.forename: Matthew R F
authors.initials: MRF
authors.lastname: Jaring
authors.forename: Savvas
authors.initials: S
authors.lastname: Andronikou
mesh_terms: D056947:Enzyme Replacement Therapy; D005776:Gaucher Disease / Q000150:complications*; D006801:Humans; D007223:Infant; D008198:Lymph Nodes / Q000000981:diagnostic imaging* / Q000473:pathology; D000072281:Lymphadenopathy / Q000150:complications* / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D008643:Mesentery / Q000000981:diagnostic imaging / Q000473:pathology; D011504:Protein-Losing Enteropathies / Q000209:etiology*; D014463:Ultrasonography