RT Journal Article
SR Electronic
T1 Adult fucosidosis
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 451
OP 451
DO 10.1212/WNL.34.4.451
VO 34
IS 4
A1 Ikeda, Shu-ichi
A1 Kondo, Kiyohiko
A1 Oguchi, Kimio
A1 Yanagisawa, Nobuo
A1 Horigome, Reiko
A1 Murata, Fusayoshi
YR 1984
UL http://n.neurology.org/content/34/4/451.abstract
AB 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.