Intrinsic laryngeal muscles in Oculocraniosomatic Syndrome (OCSS)

Abstract

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.

Effect of Recurrent Laryngeal Nerve Section on the Laryngeal Muscles of Adult Rabbits

“…It is difficult to study the morphology of the laryngeal muscles with such rare involvement in generalized neuromuscular diseases. One patient with Kearns‐Sayre syndrome did not have clinical laryngeal involvement 5 . On examination of her intrinsic laryngeal muscles after death, there was noted to be characteristic red ragged fibers seen in Kearns‐Sayre syndrome.…”

“…Involvement of the intrinsic laryngeal muscles in generalized neuromuscular disorders is infrequent 5 . Myotonic dystrophy, or Steinert's disease, is an autosomal dominant multisystem degenerative disease characterized by myotonia and progressive muscular weakness 6 .…”

“…It represents one of the most common inherited muscle disorders with an estimated prevalence of 2.1 to 14.3 per 100,000 worldwide, yet laryngeal involvement is rare 7 . There are few references in the literature regarding laryngeal involvement in other neuromuscular disorders such as arthrogryposis, scapuloperoneal muscular atrophy, oculopharyngeal muscular dystrophy, and Kearns‐Sayre syndrome 5 . It is difficult to study the morphology of the laryngeal muscles with such rare involvement in generalized neuromuscular diseases.…”

“…7 There are few references in the literature regarding laryngeal involvement in other neuromuscular disorders such as arthrogryposis, scapuloperoneal muscular atrophy, oculopharyngeal muscular dystrophy, and Kearns-Sayre syndrome. 5 It is difficult to study the morphology of the laryngeal muscles with such rare involvement in generalized neuromuscular diseases. One patient with Kearns-Sayre syndrome did not have clinical laryngeal involvement.…”

Das Kearns-Sayre-Syndrom aus hals-nasen ohrenärztlicher Sicht

“…das Kearns-Sayre-Daroff-Syndrom (27) mit Betonung spongiöser Degeneration von Hirnarealen. Mit dem Ausdruck ,,childhood oculocraniosomatic neuromuscular disease with ragged-red fibers" wollte Bertorini (5) Wir haben aus der Literatur 79 Patienten mit Kearns-Sayre-Syndrom (3,4,14,24,28,30) auf die Alters-und Geschlechtsverteilung uberprüft. Das Primärsymptom, meistens ist dies die Ophthalmoplegie, findet man am haufigsten in der ersten und wenig seltener in der zweiten Lebensdekade (Abb.…”