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Histopathologic Features of the Inner Ear Associated With Kearns-Sayre Syndrome

Histopathologic Features of the Inner Ear Associated With Kearns-Sayre Syndrome Abstract • We describe the histopathologic features of the inner ear in a 19-year-old girl with bilateral total deafness associated with Kearns-Sayre syndrome. The inner ear shows advanced degree of cochleosaccular degeneration, with almost complete absence of the organ of Corti in all turns. The spiral ganglion shows a reduction of about 60% to 70% of cells, with almost complete degeneration of nerve fibers in the bony spiral lamina. PAS-positive material was found accumulated in globules between the collapsed Reissner membrane and remains of marginal cells of the stria and in the degenerated sensory cell area of the saccular macula. (Arch Otolaryngol 102:747-752, 1976) References 1. Kearns TP, Sayre GP: Retinitis pigmentosa, external ophthalmoplegia and complete heartblock . Arch Ophthalmol 60:280-289, 1958.Crossref 2. Barnard RI, Scholz RO: Ophthalmoplegia and retinal degeneration . Am J Ophthalmol 27:621-624, 1944. 3. Walsh FB: Clinical Neuro-Ophthalmology . Baltimore, Williams & Wilkins Co, 1947. 4. Chamlin M, Billet F: Ophthalmoplegia and pigmentary degeneration of the retina . Arch Ophthalmol 13:217-223, 1950.Crossref 5. Cogan DG: Neurology of the Visual System . Springfield, Ill, Charles C Thomas Publisher, 1966, p 76. 6. Alfano JE, Berger JP: Retinitis pigmentosa, ophthalmoplegia and spastic quadriplegia . J Ophthalmol 43:231-240, 1957. 7. Erdbrink WL: Ocular myopathy associated with retinitis pigmentosa . Arch Ophthalmol 57:335-338, 1957.Crossref 8. Jager BV, Fred HL, Butler RB, et al: Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block . Am J Med 29:888-893, 1960.Crossref 9. Drachman DA: Ophthalmoplegia plus . Arch Neurol 18:654-674, 1968.Crossref 10. Shy GM, Silberberg DH, Appel SH, et al: A generalized disorder of the nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome . Am J Med 42:163-178, 1967.Crossref 11. Olson W, Engel TWK, Walsh GO, et al: Oculocraniosomatic neuromuscular disease with "ragged-red fibers." Arch Neurol 26:193-211, 1972.Crossref 12. Kearns TP: External ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy: A newly recognized syndrome . Trans Am Ophthalmol Soc 63:559-625, 1965. 13. Iannaccone ST, Griggs RC, Markesbery WR, et al: Familial progressive external ophthalmoplegia and ragged-red fibers . Neurology 24:1033-1038, 1974.Crossref 14. Refsum S: Heredopathia atactica neuritiformis: A familial syndrome not hitherto described: A contribution to the clinical study of the hereditary diseases of the nervous system . Acta Psychiatr suppl 38 , 1946. 15. Hallpike CS: Observations on the structural basis of two rare varieties of hereditary deafness , in DeReuck AVS, Knight J (eds): Myotatic Kinesthetic and Vestibular Mechanisms . Boston, Little Brown & Co, 1967, p 285. 16. Von Graefe A: Vereinzelte Beobactungen und Bemerkungen. b. Exceptionelles Verhalten Gesichtsfeldes bei Pigmentartung der Netzhaut . Albrecht von Graefes Arch Ophthalmol 2:250, 1858. 17. Liebrich R: Abkunft aus ehen und Blutsverwandten als grund von Retinitis Pigmentosa . Dtsch Klin 13-53, 1961. 18. Usher CH: On the inheritance of retinitis pigmentosa with notes of cases . R Lond Ophthalmol Hosp Rep 19:130-236, 1914. 19. Kloepfer HW, Laguaite JK, McLaurin JW: The hereditary syndrome of congenital deafness and retinitis pigmentosa . Laryngoscope 76:850-852, 1966.Crossref 20. Nager FR: Zur Histologie der Taubstummheit bei Retinitis Pigmentosa . Beitr Pathol Anat 77:288-303, 1927. 21. Von Scheibe A: Ein Fall von Taubstummheit mit Acusticusatrophie und Bildungsanomalien im hautigen Labyrinth beiderseits . Z Ohrenheilkd 22:11, 1892. 22. Friedmann I, Fraser GR, Froggatt P: Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen . J Laryngol Otol 82:883-896, 1968.Crossref 23. Naunton RF, Lindsay JR, Stein IK: Concretions in the stria vascularis . Arch Otolaryngol 97:376-380, 1973.Crossref 24. Lindsay JR: Profound childhood deafness . Ann Otol Rhinol Laryngol 82( (suppl 5) ): 1973, pp 1-121. 25. Fraser GR, Froggatt P, James TN: Congenital deafness associated with electrocardiographic abnormalities, fainting attacks and sudden death: A recessive syndrome . Q J Med 57:361-385, 1964. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Otolaryngology American Medical Association

Histopathologic Features of the Inner Ear Associated With Kearns-Sayre Syndrome

Archives of Otolaryngology , Volume 102 (12) – Dec 1, 1976

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Publisher
American Medical Association
Copyright
Copyright © 1976 American Medical Association. All Rights Reserved.
ISSN
0003-9977
DOI
10.1001/archotol.1976.00780170065011
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Abstract

Abstract • We describe the histopathologic features of the inner ear in a 19-year-old girl with bilateral total deafness associated with Kearns-Sayre syndrome. The inner ear shows advanced degree of cochleosaccular degeneration, with almost complete absence of the organ of Corti in all turns. The spiral ganglion shows a reduction of about 60% to 70% of cells, with almost complete degeneration of nerve fibers in the bony spiral lamina. PAS-positive material was found accumulated in globules between the collapsed Reissner membrane and remains of marginal cells of the stria and in the degenerated sensory cell area of the saccular macula. (Arch Otolaryngol 102:747-752, 1976) References 1. Kearns TP, Sayre GP: Retinitis pigmentosa, external ophthalmoplegia and complete heartblock . Arch Ophthalmol 60:280-289, 1958.Crossref 2. Barnard RI, Scholz RO: Ophthalmoplegia and retinal degeneration . Am J Ophthalmol 27:621-624, 1944. 3. Walsh FB: Clinical Neuro-Ophthalmology . Baltimore, Williams & Wilkins Co, 1947. 4. Chamlin M, Billet F: Ophthalmoplegia and pigmentary degeneration of the retina . Arch Ophthalmol 13:217-223, 1950.Crossref 5. Cogan DG: Neurology of the Visual System . Springfield, Ill, Charles C Thomas Publisher, 1966, p 76. 6. Alfano JE, Berger JP: Retinitis pigmentosa, ophthalmoplegia and spastic quadriplegia . J Ophthalmol 43:231-240, 1957. 7. Erdbrink WL: Ocular myopathy associated with retinitis pigmentosa . Arch Ophthalmol 57:335-338, 1957.Crossref 8. Jager BV, Fred HL, Butler RB, et al: Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block . Am J Med 29:888-893, 1960.Crossref 9. Drachman DA: Ophthalmoplegia plus . Arch Neurol 18:654-674, 1968.Crossref 10. Shy GM, Silberberg DH, Appel SH, et al: A generalized disorder of the nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome . Am J Med 42:163-178, 1967.Crossref 11. Olson W, Engel TWK, Walsh GO, et al: Oculocraniosomatic neuromuscular disease with "ragged-red fibers." Arch Neurol 26:193-211, 1972.Crossref 12. Kearns TP: External ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy: A newly recognized syndrome . Trans Am Ophthalmol Soc 63:559-625, 1965. 13. Iannaccone ST, Griggs RC, Markesbery WR, et al: Familial progressive external ophthalmoplegia and ragged-red fibers . Neurology 24:1033-1038, 1974.Crossref 14. Refsum S: Heredopathia atactica neuritiformis: A familial syndrome not hitherto described: A contribution to the clinical study of the hereditary diseases of the nervous system . Acta Psychiatr suppl 38 , 1946. 15. Hallpike CS: Observations on the structural basis of two rare varieties of hereditary deafness , in DeReuck AVS, Knight J (eds): Myotatic Kinesthetic and Vestibular Mechanisms . Boston, Little Brown & Co, 1967, p 285. 16. Von Graefe A: Vereinzelte Beobactungen und Bemerkungen. b. Exceptionelles Verhalten Gesichtsfeldes bei Pigmentartung der Netzhaut . Albrecht von Graefes Arch Ophthalmol 2:250, 1858. 17. Liebrich R: Abkunft aus ehen und Blutsverwandten als grund von Retinitis Pigmentosa . Dtsch Klin 13-53, 1961. 18. Usher CH: On the inheritance of retinitis pigmentosa with notes of cases . R Lond Ophthalmol Hosp Rep 19:130-236, 1914. 19. Kloepfer HW, Laguaite JK, McLaurin JW: The hereditary syndrome of congenital deafness and retinitis pigmentosa . Laryngoscope 76:850-852, 1966.Crossref 20. Nager FR: Zur Histologie der Taubstummheit bei Retinitis Pigmentosa . Beitr Pathol Anat 77:288-303, 1927. 21. Von Scheibe A: Ein Fall von Taubstummheit mit Acusticusatrophie und Bildungsanomalien im hautigen Labyrinth beiderseits . Z Ohrenheilkd 22:11, 1892. 22. Friedmann I, Fraser GR, Froggatt P: Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen . J Laryngol Otol 82:883-896, 1968.Crossref 23. Naunton RF, Lindsay JR, Stein IK: Concretions in the stria vascularis . Arch Otolaryngol 97:376-380, 1973.Crossref 24. Lindsay JR: Profound childhood deafness . Ann Otol Rhinol Laryngol 82( (suppl 5) ): 1973, pp 1-121. 25. Fraser GR, Froggatt P, James TN: Congenital deafness associated with electrocardiographic abnormalities, fainting attacks and sudden death: A recessive syndrome . Q J Med 57:361-385, 1964.

Journal

Archives of OtolaryngologyAmerican Medical Association

Published: Dec 1, 1976

References