ß-Galactosidase and Neuraminidase Deficiency Associated With Angiokeratoma Corporis Diffusum

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Abstract
† A 17-year-old Japanese boy was found to have ataxia, generalized angiokeratomas, skeletal deformities, visual impairment, and macular cherry-red spots, without hepatomegaly, splenomegaly, or renal failure. Laboratory examination disclosed a deficiency of β-galactosidase as well as of neuraminidase activity in the leukocytes and fibroblasts, while α-galactosidase and α-L-fucosidase activities were normal. On electron microscopic examination, numerous cytoplasmic vacuoles containing flocculated material were found in the vascular endothelial cells, histiocytes, perineurial cells, and Schwann's cells. (Arch Dermatol 1984;120:1344-1346)