title: Appendiceal involvement in a patient with Gaucher disease.
abstract: Almost any anatomical compartment may be involved in Gaucher disease (GD). Abdominal lymphadenopathy occurred during enzyme replacement therapy in more than a dozen children with GD so far. A fourteen-year-old boy from Serbia developed clinical signs of acute appendicitis six years after the onset of GD type 3 related abdominal lymphadenopathy. Ultrasound examination showed diffuse thickening of the intestinal wall in the ileocoecal region with periappendicular infiltration. An appendectomy was performed four months after conservative treatment with antibiotics. Histopathology revealed macrophages with cytological characteristics of Gaucher cells densely crammed in mesoappendiceal adipose tissue. Also the multifocal replacement of subserosal tissue by Gaucher cells and their infiltration to a variable depth of muscularis propria of the appendix were verified. Frank infiltration of the vermiform appendix with Gaucher cells represents a novel observation in a wide spectrum of manifestations reported in GD. A possible causative relationship of this infiltration with appendicitis is considered.
authors.affiliation: Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Radoja Dakica Street 6-8, 11070 Belgrade, Serbia.
authors.forename: Marija
authors.initials: M
authors.lastname: Kocic
authors.affiliation: Department of Clinical Pathology, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Radoja Dakica Street 6-8, 11070 Belgrade, Serbia; University of Banja Luka, School of Medicine, Save Mrkalja 14, 78000 Banjaluka, Bosnia and Herzegovina.
authors.forename: Slavisa M
authors.initials: SM
authors.lastname: Djuricic
authors.affiliation: Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Radoja Dakica Street 6-8, 11070 Belgrade, Serbia; University of Belgrade, School of Medicine, Dr Subotica 8, 11000, Belgrade, Serbia.
authors.forename: Maja
authors.initials: M
authors.lastname: Djordjevic
authors.affiliation: University of Belgrade, School of Medicine, Dr Subotica 8, 11000, Belgrade, Serbia; Department of Pediatric Surgery, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Radoja Dakica Street 6-8, 11070 Belgrade, Serbia.
authors.forename: Djordje
authors.initials: D
authors.lastname: Savic
authors.affiliation: Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Radoja Dakica Street 6-8, 11070 Belgrade, Serbia.
authors.forename: Bozica
authors.initials: B
authors.lastname: Kecman
authors.affiliation: Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Radoja Dakica Street 6-8, 11070 Belgrade, Serbia; University of Belgrade, School of Medicine, Dr Subotica 8, 11000, Belgrade, Serbia. Electronic address: adrijans2004@yahoo.com.
authors.forename: Adrijan
authors.initials: A
authors.lastname: Sarajlija
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D001062:Appendectomy; D001064:Appendicitis / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D001065:Appendix / Q000473:pathology / Q000601:surgery; D005776:Gaucher Disease / Q000150:complications* / Q000473:pathology; D006801:Humans; D008198:Lymph Nodes / Q000473:pathology; D000072281:Lymphadenopathy / Q000209:etiology* / Q000473:pathology; D008264:Macrophages / Q000473:pathology; D008297:Male
keywords: Abdominal lymphadenopathy; Appendicitis; Appendix; Gaucher disease