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Adult fucosidosis

Histochemical and ultrastructural studies of rectal mucosa biopsy

From the Department of Medicine (Neurology) (Drs. Ikeda, Kondo, Oguchi, and Yanagisawa) and Department of Dermatology (Dr. Horigome), Shinshu University School of Medicine, Matsumoto, and the Department of Anatomy (Dr. Murata), Kagoshima University School of Medicine, Kagoshima, Japan.

Three sisters with adult fucosidosis showed prominent psychomotor retardation, gargoyle features, and angiokeratoma corporis diffusum, meeting the criteria for type I1 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.

Address correspondence and reprint requests to Dr. Ikeda, Department of Medicine (Neurology), Shinshu University School of Medicine, Matsumoto, 390, Japan.

Accepted for publication July 11. 1983.

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