FUCOSIDOSIS TYPE-2

  • 1 January 1976
    • journal article
    • research article
    • Vol. 57  (2) , 205-213
Abstract
Two siblings, 9 and 4 1/2 yr old, had .alpha.-L-fucosidase deficiency, angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features and dysotosis multiplex. Genetic heterogeneity may be present in fucosidosis; there are at least 2 types. In type 1, patients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated Na and Cl- excretion in the sweat and fatal outcome before the 6th yr. In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival and normal salinity in the sweat. Quantitative studies on erythrocytes and in saliva disclosed severely increased expressions of Lea and Leb. Biopsies of skin and gingiva showed alterations as seen in angiokeratoma. There was also evidence of lysosomal storage in vascular endothelium, eccrine sweat gland epithelium and fibroblasts of the skin.

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