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1
Fucosidosis is a rare lysosomal storage disorder caused by mutations in the FUCA1 gene, leading to deficient α-L-fucosidase activity.
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2
The clinical spectrum of fucosidosis includes neurological regression, coarse facial features, and systemic involvement, but varies widely among patients.
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3
A novel homozygous nonsense mutation, c.557 T > A (p.Leu186*), was identified in a patient, expanding the known mutation spectrum of FUCA1.
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4
The patient presented with progressive neurological symptoms and atypical skin lesions, but lacked hepatosplenomegaly or cardiac involvement.
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5
Early genetic diagnosis is crucial for timely interventions, such as hematopoietic stem cell transplantation, in managing fucosidosis.
