Successful hematopoietic stem cell transplantation in Farber disease.
Farber disease, a lysosomal storage disorder, has a dismal prognosis leading to death with progressive granulomatous inflammation, even in patients without central nervous system involvement (type 2/3). We report the first successful hematopoietic stem cell transplantations in 2 patients with Farber disease type 2/3, resulting in resolution of symptoms.
Vormoor
Josef
J
Department of Pediatric Hematology and Oncology and the Department of Pediatrics, University Children's Hospital Münster, Münster, Germany.
Ehlert
Karoline
K
Groll
Andreas H
AH
Koch
Hans-Georg
HG
Frosch
Michael
M
Roth
Johannes
J
D002675:Child, Preschool; D005260:Female; D002517:Galactosylgalactosylglucosylceramidase / Q000172:deficiency*; D006099:Granuloma / Q000601:surgery*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000601:surgery*; D008297:Male
D002517:Galactosylgalactosylglucosylceramidase