Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease).
A 4-month-old-girl affected by early expression of Krabbe's disease was treated with allogeneic bone marrow transplantation (BMT). The stem cell donor was her heterozygous HLA-identical mother. The central nervous system (CNS) involvement at diagnosis was evident, but minimal. After BMT the child presented a severe hypotonia and an acute tetraventricular hydrocephalus; she died 180 days after the BMT with progressive severe neurologic deterioration. Leukocyte galactocerebrosidase (GALC) activity was present at donor levels 20 days after BMT. Full donor chimerism was evident 18 days after BMT. This report confirms that in early onset "Krabbe's syndrome" if the diagnosis is delayed after the birth, the progression of the neurologic deterioration is not reversed by BMT. It is to be demonstrated if a very early hemopoietic stem cell transplantation during the first weeks of life, could be appropriate and efficacious.
Caniglia
Maurizio
M
Bone Marrow Transplant Unit, Hematology Division, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio, 400165 Rome, Italy. caniglia@opbg.net
Rana
Ippolita
I
Pinto
Rita Maria
RM
Fariello
Giuseppe
G
Caruso
Roberta
R
Angioni
Adriano
A
Dionisi Vici
Carlo
C
Sabetta
Gaetano
G
De Rossi
Giulio
G
D017668:Age of Onset; D016026:Bone Marrow Transplantation; D017809:Fatal Outcome; D005260:Female; D005698:Galactosylceramidase / Q000378:metabolism; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D007965:Leukodystrophy, Globoid Cell / Q000453:epidemiology / Q000601:surgery*
D005698:Galactosylceramidase