Adult fucosidosis: histochemical and ultrastructural studies of rectal mucosa biopsy.

@article{Ikeda1984AdultFH,
  title={Adult fucosidosis: histochemical and ultrastructural studies of rectal mucosa biopsy.},
  author={Shu-ichi Ikeda and Kiyohiko Kondo and Kenya Oguchi and Naotake Yanagisawa and R Horigome and Fusayoshi Murata},
  journal={Neurology},
  year={1984},
  volume={34 4},
  pages={451-6}
}
Three sisters with adult fucosidosis showed prominent psychomotor retardation, gargoyle features, and angiokeratoma corporis diffusum, meeting the criteria for type II fucosidosis. By histochemical and ultrastructural studies, biopsy of rectal mucosa revealed many abnormal macrophages that were filled with fucose-rich granules, and electronmicroscopic examination showed several types of characteristic inclusions in the endothelial cells, fibroblasts, and Schwann's cells.