Conclusion
Our patient was not an ideal candidate since she was not clinically completely asymptomatic and presented with abnormal MRI and decreased nerve conduction when the metachromatic leukodystrophy was diagnosed in her older sibling. Nevertheless, 2 years after graft the deterioration did not progress and the MRI improved, while her brother became bed-ridden within few months after the same initial symptoms.
These favourable results need further confirmation after several years since significant differences in course have been observed in siblings (Clarke et al 1989).
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References
Clarke J, Skomorowski M, Chang P (1989) Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy.Am Med Genet 33: 10–13.
Dhuna A, Toro C, Torres F, Kennedy W, Krivit W (1992) Longitudinal neurophysiologic studies in a patient with metachromatic leukodystrophy following bone marrow transplantation.Arch Neurol 49: 1088–1092.
Krivit W, Shapiro E, Lockman L et al (1991) Recommendations for treatment of metachromatic leukodystrophy by bone marrow transplantation based on a review on seven patients who have been engrafted for at least one year. In Hobbs JR, ed.Westminster Medical School Symposium on BMT Treatment of Congenital Deficiencies: COGENT II. London: Westminster Trust, 57–52.
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Guffon, N., Souillet, G., Maire, I. et al. Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation. J Inherit Metab Dis 18, 159–161 (1995). https://doi.org/10.1007/BF00711755
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DOI: https://doi.org/10.1007/BF00711755