Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding.
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.
Hoffmann
B
B
Department of General Pediatrics, University Children's Hospital, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany. hoffmann@med.uni-duesseldorf.de
Schwahn
B
B
Knobbe
C B
CB
Vogel
M
M
Blohm
M
M
Mayatepek
E
E
Wendel
U
U
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