title: Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding.
abstract: Gaucher disease, a rare lysosomal storage disease caused by deficiency of glucocerebrosidase, may present with gastrointestinal bleeding. We report about an 11-month-old boy suffering from acute neuronopathic Gaucher disease who died after massive gastrointestinal bleeding. A gastric ulcer was found as the sole bleeding source. The gastric mucosa showed marked infiltration with Gaucher cells, in particular around the ulcer. Alterations of the gastrointestinal mucosa offer a new explanation for gastrointestinal bleedings in this disease.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany. hoffmann@med.uni-duesseldorf.de
authors.forename: B
authors.initials: B
authors.lastname: Hoffmann
authors.forename: B
authors.initials: B
authors.lastname: Schwahn
authors.forename: C B
authors.initials: CB
authors.lastname: Knobbe
authors.forename: M
authors.initials: M
authors.lastname: Vogel
authors.forename: M
authors.initials: M
authors.lastname: Blohm
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: U
authors.initials: U
authors.lastname: Wendel
mesh_terms: D017809:Fatal Outcome; D005767:Gastrointestinal Diseases / Q000150:complications* / Q000473:pathology; D005776:Gaucher Disease / Q000209:etiology*; D006470:Hemorrhage / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D011180:Postmortem Changes