PEDIATRICS Vol. 57 No. 2 February 1976, pp. 205-213
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Fucosidosis Type 2

Boris G. Kousseff M.D.1, Nicholas G. Beratis M.D.1, Lotte Strauss M.D.1, Paula W. Brill M.D.1, Richard E. Rosenfield M.D.1, Beatrice Kaplan M.D.1, and Kurt Hirschorn M.D.1

1 Departments of Pediatrics, Pathology, Radiology, and Rehabilitation Medicine, Mount Sinai School of Medicine of the City University of New York, New York

Two siblings, 9 and 4frac12 years old, had agr-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 two 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 sixth 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 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.

Submitted on March 25, 1975
Accepted on May 15, 1975


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