Fucosidosis type 2

B. G. Kousseff, N. G. Beratis, L. Strauss, P. W. Brill, R. E. Rosenfield, B. Kaplan, K. Hirschhorn

Research output: Contribution to journalArticlepeer-review

57 Scopus citations

Abstract

Two siblings, 9 and 4 1/2 yr old, had α L fucosidase deficiency, angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. It appears that genetic heterogeneity is 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 sodium and chloride excretion in the sweat, and fatal outcome before the 6th year. 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 Le(a) and Le(b). 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.

Original languageEnglish
Pages (from-to)205-213
Number of pages9
JournalPediatrics
Volume57
Issue number2
StatePublished - 1976

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