Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review
Abstract Two siblings were diagnosed with adult metachromatic leukodystrophy (MLD) and treated with hematopoietic stem cell transplantation (HSCT). While the older sibling was symptomatic at the time of diagnosis, her younger brother was diagnosed and transplanted at the presymptomatic state. We des...
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| Format: | Article |
| Language: | English |
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Wiley
2021-07-01
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| Series: | JIMD Reports |
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| Online Access: | https://doi.org/10.1002/jmd2.12221 |
| _version_ | 1818723752486109184 |
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| author | Cecilie Videbæk Jette Stokholm Henrik Sengeløv Lone U. Fjeldborg Vibeke Andrée Larsen Christian Krarup Jørgen E. Nielsen Sabine Grønborg |
| author_facet | Cecilie Videbæk Jette Stokholm Henrik Sengeløv Lone U. Fjeldborg Vibeke Andrée Larsen Christian Krarup Jørgen E. Nielsen Sabine Grønborg |
| author_sort | Cecilie Videbæk |
| collection | DOAJ |
| description | Abstract Two siblings were diagnosed with adult metachromatic leukodystrophy (MLD) and treated with hematopoietic stem cell transplantation (HSCT). While the older sibling was symptomatic at the time of diagnosis, her younger brother was diagnosed and transplanted at the presymptomatic state. We describe patients' clinical, biochemical, and genetic features, as well as neuropsychological and neurophysiological test results, and brain magnetic resonance imaging from pretransplantation and posttransplantation assessments. Both patients converted to complete donor chimerism and arylsulfatase A levels normalized 3 months posttransplantation. Twelve months posttransplantation, neurological and neuropsychological assessment for both patients showed stabilization, and they remained stable for the 38 months long observation period. To assess the effect of HSCT used as treatment for the rare, adult MLD subtype on survival and stabilization, we performed a systematic literature review and included 7 studies with a total of 26 cases. Of these 26 cases, 6 patients died of HSCT‐related complications and 2 patients had graft rejection. Of the remaining 18 patients, 2 patients improved after HSCT, 13 patients stabilized, and 3 patients progressed, suggesting that HSCT potentially benefits adult MLD patients. Larger studies focusing on this subtype are needed and recommendations on criteria for HSCT in adult MLD need to be evolved. |
| first_indexed | 2024-12-17T21:15:31Z |
| format | Article |
| id | doaj.art-b196cde2a6604a158ceb93c111aa079e |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-12-17T21:15:31Z |
| publishDate | 2021-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-b196cde2a6604a158ceb93c111aa079e2022-12-21T21:32:22ZengWileyJIMD Reports2192-83122021-07-016019610410.1002/jmd2.12221Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature reviewCecilie Videbæk0Jette Stokholm1Henrik Sengeløv2Lone U. Fjeldborg3Vibeke Andrée Larsen4Christian Krarup5Jørgen E. Nielsen6Sabine Grønborg7Neurogenetics Clinic and Research Lab Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen Copenhagen DenmarkNeurogenetics Clinic and Research Lab Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen Copenhagen DenmarkBone Marrow Transplant Unit Copenhagen, Department of Hematology University of Copenhagen Copenhagen DenmarkHjerneskadecenter Virum Den Sociale Virksomhed DenmarkDepartment of Radiology Rigshospitalet, University of Copenhagen Copenhagen DenmarkDepartment of Clinical Neurophysiology Rigshospitalet, University of Copenhagen Copenhagen DenmarkNeurogenetics Clinic and Research Lab Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen Copenhagen DenmarkDepartment of Paediatrics and Adolescent Medicine, Centre for Inherited Metabolic Disease Rigshospitalet, University Hospital Copenhagen Copenhagen DenmarkAbstract Two siblings were diagnosed with adult metachromatic leukodystrophy (MLD) and treated with hematopoietic stem cell transplantation (HSCT). While the older sibling was symptomatic at the time of diagnosis, her younger brother was diagnosed and transplanted at the presymptomatic state. We describe patients' clinical, biochemical, and genetic features, as well as neuropsychological and neurophysiological test results, and brain magnetic resonance imaging from pretransplantation and posttransplantation assessments. Both patients converted to complete donor chimerism and arylsulfatase A levels normalized 3 months posttransplantation. Twelve months posttransplantation, neurological and neuropsychological assessment for both patients showed stabilization, and they remained stable for the 38 months long observation period. To assess the effect of HSCT used as treatment for the rare, adult MLD subtype on survival and stabilization, we performed a systematic literature review and included 7 studies with a total of 26 cases. Of these 26 cases, 6 patients died of HSCT‐related complications and 2 patients had graft rejection. Of the remaining 18 patients, 2 patients improved after HSCT, 13 patients stabilized, and 3 patients progressed, suggesting that HSCT potentially benefits adult MLD patients. Larger studies focusing on this subtype are needed and recommendations on criteria for HSCT in adult MLD need to be evolved.https://doi.org/10.1002/jmd2.12221adult metachromatic leukodystrophyhematopoietic stem cell transplantationMRI‐MLD score |
| spellingShingle | Cecilie Videbæk Jette Stokholm Henrik Sengeløv Lone U. Fjeldborg Vibeke Andrée Larsen Christian Krarup Jørgen E. Nielsen Sabine Grønborg Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review JIMD Reports adult metachromatic leukodystrophy hematopoietic stem cell transplantation MRI‐MLD score |
| title | Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review |
| title_full | Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review |
| title_fullStr | Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review |
| title_full_unstemmed | Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review |
| title_short | Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review |
| title_sort | allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review |
| topic | adult metachromatic leukodystrophy hematopoietic stem cell transplantation MRI‐MLD score |
| url | https://doi.org/10.1002/jmd2.12221 |
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