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Fucosidosis type 2

B G Kousseff, N G Beratis, L Strauss

    Pediatrics
    |February 1, 1976
    PubMed
    Summary
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    Fucosidosis, a lysosomal storage disorder, presents with genetic heterogeneity. Two distinct types, identified by clinical features like angiokeratoma and psychomotor regression, show varying severity and survival rates.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Fucosidosis is a rare lysosomal storage disease caused by alpha-L-fucosidase deficiency.
    • Genetic heterogeneity in fucosidosis suggests distinct clinical subtypes with differing prognoses.

    Observation:

    • Two siblings presented with alpha-L-fucosidase deficiency, angiokeratoma, psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex.
    • Type 1 fucosidosis characterized by rapid psychomotor regression, severe neurologic signs, and early fatality.
    • Type 2 fucosidosis presented with angiokeratoma, milder symptoms, and longer survival.

    Findings:

    • Elevated Lea and Leb expression in erythrocytes and saliva were observed.
    • Skin and gingival biopsies revealed angiokeratoma-like alterations.

    Related Experiment Videos

  • Lysosomal storage was evident in vascular endothelium, eccrine sweat gland epithelium, and skin fibroblasts.

    • Implications:

    • Distinguishing between fucosidosis types is crucial for accurate diagnosis and prognosis.
    • Understanding the genetic basis and clinical spectrum aids in patient management.
    • Further research into lysosomal storage mechanisms in fucosidosis is warranted.