Successful hematopoietic stem cell transplantation in Farber disease

J Pediatr. 2004 Jan;144(1):132-4. doi: 10.1016/j.jpeds.2003.09.051.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Female
  • Galactosylgalactosylglucosylceramidase / deficiency*
  • Granuloma / surgery*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Lysosomal Storage Diseases / surgery*
  • Male

Substances

  • Galactosylgalactosylglucosylceramidase