Pediatric transplantation · 2026
Early Hematopoietic Stem Cell Transplantation in Type 1 Fucosidosis: Reversal of Central Tegmental Tract Abnormalities.
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Palaz Mehmet, Taşkın Ahmet, Özpınar Esra, Topçu Yasemin, Yaman Yöntem, Kılıç Betül, Aydın Kürşad
Аннотация
BACKGROUND: Fucosidosis is an ultra-rare lysosomal storage disorder caused by alpha-L-fucosidase deficiency, leading to progressive neurodegeneration and multisystem involvement. Hematopoietic stem cell transplantation (HSCT) has emerged as a potential disease-modifying therapy, particularly when performed early in the disease course. However, neuroradiological reversibility after HSCT remains insufficiently documented.
METHODS: We report a male infant diagnosed with Type 1 fucosidosis at 6 months of age based on enzymatic and genetic analyses. Brain magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) demonstrated characteristic abnormalities, including central tegmental tract involvement. The patient underwent allogeneic HSCT at 14 months of age and was followed clinically and radiologically.
RESULTS: Following HSCT, the patient demonstrated stabilization and gradual improvement of neurological functions. Follow-up neuroimaging revealed marked regression of white matter abnormalities and reversal of central tegmental tract hyperintensities. Developmental progression improved after transplantation, and no major transplant-related neurological complications occurred.
CONCLUSION: Early HSCT was accompanied by clinical improvement and resolution of central tegmental tract abnormalities in this patient. These imaging changes may help assess treatment response, though larger cohorts and longer follow-up are needed to evaluate long-term outcomes.
METHODS: We report a male infant diagnosed with Type 1 fucosidosis at 6 months of age based on enzymatic and genetic analyses. Brain magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) demonstrated characteristic abnormalities, including central tegmental tract involvement. The patient underwent allogeneic HSCT at 14 months of age and was followed clinically and radiologically.
RESULTS: Following HSCT, the patient demonstrated stabilization and gradual improvement of neurological functions. Follow-up neuroimaging revealed marked regression of white matter abnormalities and reversal of central tegmental tract hyperintensities. Developmental progression improved after transplantation, and no major transplant-related neurological complications occurred.
CONCLUSION: Early HSCT was accompanied by clinical improvement and resolution of central tegmental tract abnormalities in this patient. These imaging changes may help assess treatment response, though larger cohorts and longer follow-up are needed to evaluate long-term outcomes.