Severe graft versus host disease in a patient with globoid cell leukodystrophy following umbilical cord blood transplantation: resemblance to the twitcher mouse model

Turk J Pediatr. Jul-Sep 2007;49(3):304-6.


Bone marrow transplantation (BMT) is currently the treatment of choice for patients with globoid cell leukodystrophy (GLD), particularly in the early phases of the disease. Elevated interleukin (IL)-6 levels in the central nervous system of the twitcher mouse, an animal model for GLD, have been held responsible for severe graft versus host disease (GVHD), and IL-6 knock-out mice have shown lower incidence of GVHD after BMT. Here we report an eight-year-old girl with late-onset advanced stage of GLD who developed severe GVHD and died following unrelated 5/6 matched cord blood transplantation. Serum IL-6 levels pre-BMT and at day +38 were elevated (20 pg/ml and 15 pg/ml, respectively). This observation may support the findings in twitcher mice suggesting a possible role for IL-6 in the pathogenesis of GVHD in transplanted patients with GLD.

Publication types

  • Case Reports

MeSH terms

  • Blood Grouping and Crossmatching
  • Child
  • Fatal Outcome
  • Female
  • Fetal Blood / transplantation*
  • Graft vs Host Disease / etiology
  • Graft vs Host Disease / physiopathology*
  • Humans
  • Interleukin-6 / blood
  • Leukodystrophy, Globoid Cell / physiopathology*
  • Leukodystrophy, Globoid Cell / therapy


  • Interleukin-6