Neuropediatrics 2009; 40(4): 189-191
DOI: 10.1055/s-0029-1243189
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Intracranial Calcification after Cord Blood Neonatal Transplantation for Krabbe Disease

A. M. Lehman1 , K. R. Schultz2 , K. Poskitt3 , B. Bjornson2 , R. Keyes2 , P. J. Waters4 , L. A. Clarke1 , R. Everett2 , D. McConnell5 , S. Stockler2
  • 1Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada
  • 2Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada
  • 3Department of Radiology, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada
  • 4Department of Pathology, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada
  • 5Department of Psychology, British Columbia Children's Hospital, University of British Columbia, Vancouver, Canada
Further Information

Publication History

Publication Date:
04 February 2010 (online)

Abstract

Infantile-onset Krabbe disease results from a deficiency of the lysosomal enzyme galactocerebrosidase and leads to death from profound central and peripheral demyelination. Neonatal hematopoietic cell transplantation may result in near-normal cognitive development and partial rescue of gross motor development. The long-term course of the disorder for treated patients seems to involve slowly progressive neurological impairment. We describe the detailed 3-year outcomes of this experimental procedure using umbilical cord blood in a prenatally-diagnosed newborn with Krabbe disease. Substantial perivascular calcifications and atrophy of the white matter developed in the first year post-transplantation. Despite persistent neuroradiological and electrophysiological evidence of leukodystrophy, at age 3 years she has had only mildly impaired non-motor development and moderately impaired motor skills. The cause of these severe white matter changes may have been due to ongoing Krabbe disease or to effects of the chemotherapy regimen or to an interaction of these factors. Extended long-term follow-up of children neonatally transplanted for Krabbe disease is needed before the full utility and limitations of neonatal transplantation can be determined.

References

Correspondence

Sylvia Stockler, MD, MBA 

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