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Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors

Journal article
Authors Gunilla Malm
Jan-Eric Månsson
Jacek Winiarski
Mikael Mosskin
Olle Ringdén
Published in TRANSPLANTATION
Volume 78
Issue 3
Pages 415-419
ISSN 0041-1337
Publication year 2004
Published at Institute of Clinical Neurosciences, Section of Experimental Neuroscience
Pages 415-419
Language en
Keywords bone-marrow-transplantation, versus-host-disease, metachromatic leukodystrophy, leukemia, children
Subject categories Medical and Health Sciences, Immunology in the medical area, Surgery

Abstract

Background. Aspartylglucosaminuria is a rare, inherited lysosomal disease characterized by a slowly progressive mental retardation and coarse facial and body features. With the intent to provide the deficient enzyme aspartylglucosaminidase, allogeneic stem-cell transplantation (ASCT) has been attempted. Only a few cases of transplants have been reported. Methods. Two siblings with aspartylglucosaminuria underwent allogeneic bone marrow transplants using unrelated human leukocyte antigen-A, -B, and DR identical donors at ages 10 years 5 months and 5 years 10 months, respectively. They were followed during 5 years with biochemical, neuroradiologic, neuropsychologic, and clinical investigations. Results. During 5 years follow-up, no neuropsychologic or clinical deterioration was noted in the children. A stable expression of aspartylglucosaminidase was found during the whole follow-up period. The spinal fluid concentration of Tau-protein, a marker of neuronal and axonal degeneration and damage, peaked at approximately 12 months after bone-marrow transplantation and then declined to almost normal levels after 5 years. By magnetic resonance imaging (MRI), an improvement of myelination in the youngest sibling and an arrest of demyelination in the older one were observed. Conclusion. The importance of long-term follow-up of children after ASCT in this rare, very slowly progressive lysosomal disease must be emphasized. We report that none of the children had lost any capabilities since the transplantation; moreover, an improvement is shown in biochemical markers and MRI white-matter signals, suggesting a beneficial effect.

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