† 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)
Ishibashi A, Tsuboi R, Shinmei M. ß-Galactosidase and Neuraminidase Deficiency Associated With Angiokeratoma Corporis Diffusum. Arch Dermatol. 1984;120(10):1344-1346. doi:10.1001/archderm.1984.01650460084025