Related Experiment Video
Updated: Aug 8, 2026
11:25
Busulfan as a Myelosuppressive Agent for Generating Stable High-level Bone Marrow Chimerism in Mice
Published on: April 1, 2015
Allogeneic bone marrow transplantation for fucosidosis
A Vellodi1, H Cragg, B Winchester
1Bone Marrow Transplant Unit, Westminster Children's Hospital, Vincent Square, London, UK.
Bone Marrow Transplantation
|January 1, 1995
Summary
Bone marrow transplantation successfully treated a child with fucosidosis, a rare genetic disorder. The patient showed improved MRI scans and less neurodevelopmental delay compared to his sibling.
Area of Science:
- * Biochemistry and Genetics
- * Hematology and Immunology
Background:
- * Fucosidosis is a rare lysosomal storage disorder characterized by the accumulation of fucose-containing glycolipids and glycoproteins.
- * Early diagnosis and intervention are crucial for managing the progressive neurodegenerative symptoms of fucosidosis.
Observation:
- * An 8-month-old boy diagnosed with fucosidosis underwent bone marrow transplantation (BMT).
- * Despite being asymptomatic with normal development, pre-transplant MRI revealed abnormalities.
- * An unrelated volunteer donor was used due to the lack of a suitable related donor.
Findings:
- * Engraftment was confirmed by donor levels of alpha-fucosidase, blood group, and chromosomal analysis.
- * The patient experienced moderately severe graft-versus-host disease post-transplant.
- * Eighteen months post-BMT, mild neurodevelopmental delay was observed, with MRI scan improvement.
Implications:
- * This case represents the first documented instance of BMT for human fucosidosis.
- * BMT may offer a therapeutic option for fucosidosis, potentially halting or reversing disease progression.
- * Further research is warranted to optimize BMT protocols and assess long-term outcomes for fucosidosis patients.
Related Concept Videos
01:22Bone Marrow Sampling and Transplants
Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy the...
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy the...
01:24Tissue Transplantation
Tissue transplantation is a significant medical procedure involving the transfer of cells, tissues, or organs from a donor to a recipient, with the primary aim of restoring lost functions. This procedure is crucial in treating a broad spectrum of diseases, including kidney diseases, liver failure, heart disease, and certain types of cancers.
The Biology of Tissue Transplantation
The biology of tissue transplantation hinges on the Major Histocompatibility Complex (MHC) molecules. These molecules...
The Biology of Tissue Transplantation
The biology of tissue transplantation hinges on the Major Histocompatibility Complex (MHC) molecules. These molecules...