Early severe cortical involvement and novel FUCA1 pathogenic variants in a pediatric fucosidosis case
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-oldboy presenting with psychomotor regression, spasticity, and dystonic postures.Methods and Results: Trio-based whole exome sequencing revealed two previously unreported loss-...
| Autores: | , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2025 |
| País: | España |
| Institución: | Universidad Autónoma de Madrid |
| Repositorio: | Biblos-e Archivo. Repositorio Institucional de la UAM |
| Idioma: | inglés |
| OAI Identifier: | oai:repositorio.uam.es:10486/717816 |
| Acceso en línea: | http://hdl.handle.net/10486/717816 https://dx.doi.org/10.1002/mgg3.70070 |
| Access Level: | acceso abierto |
| Palabra clave: | Cortical Thickness FUCA1 Gene Fucosidosis Neuroimaging Psicología |
| Sumario: | Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-oldboy presenting with psychomotor regression, spasticity, and dystonic postures.Methods and Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in theFUCA1 gene. Brain magnetic resonance imaging (MRI) findings included corpus callosum hypoplasia, white matter hypomyeli-nation, and alterations in the globus pallidi, alongside markedly reduced cortical thickness.Conclusions: These findings suggest that cortical atrophy may occur in the early stages of fucosidosis. Early diagnosis is im-perative for genetic counseling, timely investigations, and initiating early therapeutic interventions to potentially mitigate moreextensive brain involvement |
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