Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease |
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| Affiliation: | 1. Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan;2. Department of Neurology, International University of Health and Welfare Mita Hospital, Tokyo, Japan;3. Department of Neurology, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan;4. Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan;5. Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan;6. Department of Radiology, School of Medicine, Jichi Medical University, Tochigi, Japan;7. Department of Hematology, The University of Tokyo Hospital, Tokyo, Japan;8. Hematology Division, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan;9. Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine, Japan;10. Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan;1. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan;2. Department of Pediatrics, School of Medicine, Iwate Medical University, Iwate, Japan;3. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;4. Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan;5. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan;1. Department of Pediatrics, National Hospital Organization Ureshino Medical Center, Ureshino, Saga, Japan;2. Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan;3. Department of Neurosurgery, Faculty of Medicine, Saga University, Saga, Japan;1. Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan;2. Department of Pediatrics, Nakashibetsu Town Hospital, Hokkaido, Japan;3. Department of Genetic Counseling, Asahikawa Medical University Hospital, Hokkaido, Japan;4. Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan |
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| Abstract: | BackgroundLate-onset Krabbe disease is a disorder with autosomal recessive inheritance caused by a deficiency in galactocerebrosidase (GALC) activity. Its late-onset form usually shows slow disease progression with atypical symptoms including spastic paresis. The efficacy of hematopoietic stem cell transplantation (HSCT) in late-onset Krabbe disease has not been fully established.Case ReportWe describe the case of a patient with late-onset Krabbe disease showing progressive spastic paraparesis. At the age of 18, one and a half years after the development of symptoms, the patient underwent HSCT. After HSCT, the patient's GALC activity returned to a normal level and the lesions in the brain and spinal cord became faint on images. Over two and a half years after the HSCT, the patient's gait remained spastic, however, an improvement in gait speed and modified Rankin Scale score was observed. No severe adverse events occurred during this period.ConclusionOur experience reported herein provides additional evidence for a favorable course in HSCT conducted in the early course of late-onset Krabbe disease. |
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| Keywords: | Late-onset Krabbe disease Galactocerebrosidase Spinal cord lesion Spastic paraparesis Hematopoietic stem cell transplantation |
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