Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy.
A 5-year-old male with Gaucher's disease type 3 developed progressive mesenteric and mediastinal lymphadenopathy over 12 months, despite enzyme replacement therapy, contributing to the development of a protein-losing enteropathy. These complications are unique, indicating poorly accessible, differentially responsive compartments in patients with Gaucher's disease who are receiving enzyme therapy.
Burrow
T Andrew
TA
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Cohen
Mitchell B
MB
Bokulic
Ronald
R
Deutsch
Gail
G
Choudhary
Arabinda
A
Falcone
Richard A
RA
Grabowski
Gregory A
GA
D002675:Child, Preschool; D018450:Disease Progression; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006529:Hepatomegaly / Q000209:etiology* / Q000473:pathology; D006801:Humans; D008206:Lymphatic Diseases / Q000209:etiology* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008643:Mesentery / Q000473:pathology; D018570:Risk Assessment; D013163:Splenomegaly / Q000209:etiology* / Q000473:pathology; D013997:Time Factors
D005962:Glucosylceramidase