Hematopoietic Stem Cell Transplantation for Late-Onset Krabbe Disease
Case Study: Krabbe disease (globoid cell leukodystrophy, Omim 245200) is a severe genetic degenerative brain disorder caused by the deficiency of the lysosomal enzyme β-galactocerebrosidase. The classical infantile form of the disease starts during the first year of life with dramatic loss of psychomotor functions and leads to early death. Therapy of this form with hematopoietic stem cell transplantation (HSCT) has been advocated for many years, but in spite of treatment early during the presymptomatic phase of the disease, has remained controversial. In contrast, a limited number of patients with late-onset forms of Krabbe disease receiving HSCT therapy have been reported; some of them suggesting HSCT as an effective treatment option.
Case Report: A boy aged 3 ¾ years was investigated because of new and rapidly progressive visual failure. His development had been normal, and no further neurological findings were present. MRI showed symmetric lesions of brain white matter affecting the optic radiation. X-linked adrenoleukodystrophy and Krabbe disease were considered diagnostic possibilities. The latter was confirmed by low β-galactocerebrosidase activity in leukocytes and two heterozygous mutations in the GALC gene (exon 4: c331G > A, exon 4: c334A > G). Although the boy was very young, we classified him as an atypical late-onset case of Krabbe disease and performed HSCT at the age of 4 years. After a follow-up of 14 months, the boy is in good condition and does not show any further neurological deterioration.
Conclusion: For patients with late-onset forms of Krabbe disease, HSCT seems to be a promising treatment option.
Keywords: Krabbe, leukodystrophy, Globoid cell therapy.