Abstract:
: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.
journal_name
Neurologyjournal_title
Neurologyauthors
Ikeda S,Kondo K,Oguchi K,Yanagisawa N,Horigome R,Murata Fdoi
10.1212/wnl.34.4.451subject
Has Abstractpub_date
1984-04-01 00:00:00pages
451-6issue
4eissn
0028-3878issn
1526-632Xjournal_volume
34pub_type
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