Diagnosis and Supportive Management of Fucosidosis: A Case Report

Fucosidosis is a lysosomal storage disease, resulting from a deficiency of the enzyme alpha-L-fucosidase. We present the case of an affected female with numerous manifestations, clinically and radiographically. In fucosidosis, advanced interventions are not always necessary to have rewarding outcome...

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Detalles Bibliográficos
Autores principales: Kaur, Arpanjeet, Dhaliwal, Arshdeep S, Raynes, Hillary, Naidich, Thomas P, Kaufman, David M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907717/
https://www.ncbi.nlm.nih.gov/pubmed/31886074
http://dx.doi.org/10.7759/cureus.6139
Descripción
Sumario:Fucosidosis is a lysosomal storage disease, resulting from a deficiency of the enzyme alpha-L-fucosidase. We present the case of an affected female with numerous manifestations, clinically and radiographically. In fucosidosis, advanced interventions are not always necessary to have rewarding outcomes. In fact, early diagnosis and management of the symptoms with a multi-systemic supportive care approach can improve the quality of life and may also prolong the life of those patients diagnosed with fucosidosis.

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