Sea-blue histiocytes and sural nerve in neurovisceral storage disorder with vertical ophthalmoplegia.
Ultrastructural investigation of bone marrow histiocytes in neurovisceral storage disorder associated with vertical ophthalmoplegia revealed 3 types of cytosomes: (1) lamellar cytosomes; (2) larger cytosomes composed of lamellar fragments and a granular component; and (3) large irregular cytosomes with amorphous and granular portions, often including fingerprint profiles--in some of these, lysosome-like bodies were numerous. The lamellar cytosomes corresponded to vacuoles seen by light microscopy. The Type 2 and 3 cytosomes were the ultrastructural substract of Wright-Giemsa stained blue granules. Histiocytes having a predominance of Type 2 cytosomes in a cytoplasm rich in free ribosomes had the appearance of sea-blue histiocytes at the light-microscopic level. Transformed Type 1 cytostomes served as building blocks for Type 2 and 3 cytosomes. In the sural nerve, Schwann cells and endoneurial fibroblasts accumulated autofluorescent lipopigment but no lamellar cytosomes or their fragments were found on electron-microscopic examination. Ultrastructure of sea-blue histiocytes in this disease differed from that observed in some other diseases.
D000328:Adult; D001853:Bone Marrow / Q000648:ultrastructure; D001854:Bone Marrow Cells; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006644:Histiocytes / Q000648:ultrastructure*; D006651:Histocytochemistry; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000378:metabolism / Q000473:pathology*; D009132:Muscles / Q000648:ultrastructure; D009886:Ophthalmoplegia / Q000473:pathology*; D010860:Pigments, Biological / Q000378:metabolism; D012583:Schwann Cells / Q000378:metabolism; D013127:Spinal Nerves / Q000648:ultrastructure*; D013497:Sural Nerve / Q000648:ultrastructure*
D010860:Pigments, Biological