Intrinsic laryngeal muscles in oculocraniosomatic syndrome (OCSS). An autopsy study.
In a 36-year-old woman who died due to an atypical subacute necrotizing inclusion-body encephalitis with herpes virions, typical clinical symptoms of the oculocraniosomatic syndrome of Kearns and Sayre were substantiated. Her still living daughter suffers from the same disorder. The skeletal muscles taken from various parts of the body of the 36-year-old patient displayed the typical features of a sudanophilic myopathy, including abundant 'ragged-red' fibers and a pleoconial mitochondriosis. For the first time in the literature the intrinsic laryngeal muscles were also found to be significantly involved. Their morphological features are delineated and discussed.
D000328:Adult; D003638:Deafness / Q000473:pathology; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000473:pathology*; D007821:Laryngeal Muscles / Q000473:pathology*; D050356:Lipid Metabolism; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology*; D009886:Ophthalmoplegia / Q000473:pathology*; D014617:Vacuoles / Q000648:ultrastructure; D014827:Vocal Cords / Q000473:pathology