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Abrupt Neurological Deterioration in Children With Kearns-Sayre Syndrome

Abrupt Neurological Deterioration in Children With Kearns-Sayre Syndrome Abstract • The conditions of a young woman and a boy with Kearns-Sayre syndrome (KSS) deteriorated abruptly; they died despite pacemaker control of complete heart block (case 1) and without evidence of arrhythmia or asystole. Extensive spongy vacuolization of the brainstem was shown by serial computerized tomographic scanning (case 2) and at autopsy (case 1). A review of the literature indicated that KSS in childhood is particularly severe and is associated with diffuse, progressive, spongy degeneration of the brain. Children with KSS have clinical, roentgenographic, and neuropathological evidence of spongy degeneration of the brain, which may be related to abrupt deterioration and death despite adequate control of heart block. Periodic brainstem auditory evoked response studies may allow early recognition of this process. References 1. References 1, 8, 10, 14-17, 19, 20, 22. 2. References 1, 10, 12, 13, 20, 21, 26-35. 3. References 10, 12, 13, 26-30, 32, 35. 4. References 1, 8, 10, 14-17, 19, 20, 22. 5. Kearns TP, Sayre GP: Retinitis pigmentosa, external ophthalmoplegia and complete heart block . Arch Ophthalmol 1958;60:280-289.Crossref 6. Berenberg RA, Pellock JM, DiMauro S, et al: Lumping or splitting? 'Ophthalmoplegia-plus' or Kearns-Sayre syndrome? Ann Neurol 1977;1:37-54.Crossref 7. Drachman DA: Ophthalmoplegia plus: A classification of the disorders associated with progressive external ophthalmoplegia , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology . New York, American Elsevier Publishing Co, 1975, vol 22, pp 203-216. 8. Rowland LP: Progressive external opthalmoplegia , in Vinken PJ, Bruyn GW (eds): Hand-book of Clinical Neurology . New York, American Elsevier Publishing Co, 1975, vol 22, pp 177-202. 9. Seigel RS, Seeger JF, Gabrielsen TO, et al: Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome) . Radiology 1979;130:159-164.Crossref 10. Olson W, Engel WK, Walsh GO, et al: Oculocraniosomatic neuromuscular disease with 'ragged-red' fibers . Arch Neurol 1969;21:170-183.Crossref 11. Toppet M, Telerman-Toppet N, Szliwowski HB, et al: Oculocraniosomatic neuromuscular disease with hypoparathyroidism . Am J Dis Child 1977;131:437-441. 12. Horwitz SJ, Roessman U: Kearns-Sayre syndrome with hypoparathyroidism . Ann Neurol 1978;3:513-518.Crossref 13. Pellock JM, Behrens M, Lewis L, et al: Kearns-Sayre syndrome and hypoparathyroidism . Ann Neurol 1978;3:455-458.Crossref 14. Clark DS, Myerburg RJ, Morales AR, et al: Heart block in Kearns-Sayre syndrome . Chest 1975;68:727-730.Crossref 15. Seigel AM, Shaywitz BA, Ciesielski T: Kearns-Sayre syndrome: The importance of early recognition . Am J Dis Child 1977;131:711-712. 16. Petersen E: Third-degree atrioventricular block, chronic progressive external ophthalmoplegia and pigmentary degeneration of retina . Acta Med Scand 1978;203:39-42.Crossref 17. Butler IJ, Gadoth N: Kearns-Sayre syndrome . Arch Intern Med 1976;136:1290-1293.Crossref 18. Castaigne P, Laplane D, Escourolle R, et al: Ophthalmoplegie externe progessive avec spongiose des noyaux du tronc cérébral Rev Neurol 1971;124:454-466. 19. Castaigne P, Lhermitte F, Escourolle R, et al: Etude anatomo-clinique d'une observation d' 'opthalmoplegia-plus' avec analyse des lésions musculaires, nerveuses centrales, oculaires, myocardiques et thyroidiennes . Rev Neurol 1977;133:369-386. 20. Tridon P, Martin JJ, Vidailhet M, et al: Spongiose cérébrale juvenile . Pédiatrie 1974;29:235-247. 21. Azubuike JC, Gullotta F, Kallfelz HC, et al: Juvenile spongiöse Dystrophie des ZNS mit Medullanekrose . Neuropädiatrie 1975;6:292-306.Crossref 22. Jager BV, Fred HL, Butler RB, et al: Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block . Am J Med 1960;29:888-893.Crossref 23. Cullen RF, Daroff RB, Popoff N: Early onset external ophthalmoplegia and retinopathy . Neurology 1973;23:406.Crossref 24. Daroff RB, Solitare GB, Pincus JH, et al: Spongiform encephalopathy with chronic progressive external ophthalmoplegia . Neurology 1966;16:161-169.Crossref 25. Kearns TP: External ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy: A newly recognized syndrome . Trans Am Ophthalmol Soc 1965;63:559-625. 26. Crosby TW, Chou SM: 'Ragged-red' fibers in Leigh's disease . Neurology 1974;24:49-54.Crossref 27. Rowland LP, Berenberg RA: Letter to the editor . Neurology 1974;24:598.Crossref 28. Joannard A, Machecourt D, Mouillon M, et al: Syndrome de Kearns avec hypocalcémie transitoire . Pédiatrie 1977;32:797-806. 29. Schneck L, Adachi M, Briet P, et al: Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue . J Neurol Sci 1973;19:37-44.Crossref 30. Lowes M: Chronic progressive external ophthalmoplegia, pigmentary retinopathy and heart block (Kearns-Sayre syndrome) . Acta Ophthalmol 1975;53:610-619.Crossref 31. Gadoth N: Chronic progressive external ophthalmoplegia with severe cardiac dysrhythmia . Isr J Med Sci 1977;13:159-160. 32. Pilling JB, Nanton MA: Progressive external ophthalmoplegia and heart block . Br Med J 1974;1:492-493.Crossref 33. Ross A, Lipschutz D, Austin J, et al: External ophthalmoplegia and complete heart block . N Engl J Med 1969;280:313-314.Crossref 34. Shastri SD, Tulgan H, Budnitz J, et al: Progressive ophthalmoplegia, retinitis pigmentosa and complete heart block . NY State J Med 1971;71:587-590. 35. Boltshauser E, Jerusalem F, Niemeyer G, et al: Kearns-Syndrom . Schweiz Med Wochenschr 1977;107:1880-1888. 36. Uppal SC: Kearns syndrome, a new form of cardiomyopathy . Br Heart J 1973;35:766-769.Crossref 37. Karpati G, Carpenter S, Larbrisseau A, et al: The Kearns-Shy syndrome . J Neurol Sci 1973;19:133-151.Crossref 38. Haas J, Haller P, Patzold U: Das Kearns-Syndrom . Dtsch Med Wochenschr 1976;101:1523-1528.Crossref 39. Drachman DA: Ophthalmoplegia plus . Arch Neurol 1968;18:654-674.Crossref 40. McComish M, Compston A, Jewitt D: Cardiac abnormalities in chronic progressive external ophthalmoplegia . Br Heart J 1976;38:526-529.Crossref 41. Carrol JE, Zwillich C, Weil JV, et al: Depressed ventilatory response in oculocraniosomatic neuromuscular disease . Neurology 1976;26:140-146.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Abrupt Neurological Deterioration in Children With Kearns-Sayre Syndrome

Archives of Neurology , Volume 38 (4) – Apr 1, 1981

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Publisher
American Medical Association
Copyright
Copyright © 1981 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1981.00510040073013
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Abstract

Abstract • The conditions of a young woman and a boy with Kearns-Sayre syndrome (KSS) deteriorated abruptly; they died despite pacemaker control of complete heart block (case 1) and without evidence of arrhythmia or asystole. Extensive spongy vacuolization of the brainstem was shown by serial computerized tomographic scanning (case 2) and at autopsy (case 1). A review of the literature indicated that KSS in childhood is particularly severe and is associated with diffuse, progressive, spongy degeneration of the brain. Children with KSS have clinical, roentgenographic, and neuropathological evidence of spongy degeneration of the brain, which may be related to abrupt deterioration and death despite adequate control of heart block. Periodic brainstem auditory evoked response studies may allow early recognition of this process. References 1. References 1, 8, 10, 14-17, 19, 20, 22. 2. References 1, 10, 12, 13, 20, 21, 26-35. 3. References 10, 12, 13, 26-30, 32, 35. 4. References 1, 8, 10, 14-17, 19, 20, 22. 5. Kearns TP, Sayre GP: Retinitis pigmentosa, external ophthalmoplegia and complete heart block . Arch Ophthalmol 1958;60:280-289.Crossref 6. Berenberg RA, Pellock JM, DiMauro S, et al: Lumping or splitting? 'Ophthalmoplegia-plus' or Kearns-Sayre syndrome? Ann Neurol 1977;1:37-54.Crossref 7. Drachman DA: Ophthalmoplegia plus: A classification of the disorders associated with progressive external ophthalmoplegia , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology . New York, American Elsevier Publishing Co, 1975, vol 22, pp 203-216. 8. Rowland LP: Progressive external opthalmoplegia , in Vinken PJ, Bruyn GW (eds): Hand-book of Clinical Neurology . New York, American Elsevier Publishing Co, 1975, vol 22, pp 177-202. 9. Seigel RS, Seeger JF, Gabrielsen TO, et al: Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome) . Radiology 1979;130:159-164.Crossref 10. Olson W, Engel WK, Walsh GO, et al: Oculocraniosomatic neuromuscular disease with 'ragged-red' fibers . Arch Neurol 1969;21:170-183.Crossref 11. Toppet M, Telerman-Toppet N, Szliwowski HB, et al: Oculocraniosomatic neuromuscular disease with hypoparathyroidism . Am J Dis Child 1977;131:437-441. 12. Horwitz SJ, Roessman U: Kearns-Sayre syndrome with hypoparathyroidism . Ann Neurol 1978;3:513-518.Crossref 13. Pellock JM, Behrens M, Lewis L, et al: Kearns-Sayre syndrome and hypoparathyroidism . Ann Neurol 1978;3:455-458.Crossref 14. Clark DS, Myerburg RJ, Morales AR, et al: Heart block in Kearns-Sayre syndrome . Chest 1975;68:727-730.Crossref 15. Seigel AM, Shaywitz BA, Ciesielski T: Kearns-Sayre syndrome: The importance of early recognition . Am J Dis Child 1977;131:711-712. 16. Petersen E: Third-degree atrioventricular block, chronic progressive external ophthalmoplegia and pigmentary degeneration of retina . Acta Med Scand 1978;203:39-42.Crossref 17. Butler IJ, Gadoth N: Kearns-Sayre syndrome . Arch Intern Med 1976;136:1290-1293.Crossref 18. Castaigne P, Laplane D, Escourolle R, et al: Ophthalmoplegie externe progessive avec spongiose des noyaux du tronc cérébral Rev Neurol 1971;124:454-466. 19. Castaigne P, Lhermitte F, Escourolle R, et al: Etude anatomo-clinique d'une observation d' 'opthalmoplegia-plus' avec analyse des lésions musculaires, nerveuses centrales, oculaires, myocardiques et thyroidiennes . Rev Neurol 1977;133:369-386. 20. Tridon P, Martin JJ, Vidailhet M, et al: Spongiose cérébrale juvenile . Pédiatrie 1974;29:235-247. 21. Azubuike JC, Gullotta F, Kallfelz HC, et al: Juvenile spongiöse Dystrophie des ZNS mit Medullanekrose . Neuropädiatrie 1975;6:292-306.Crossref 22. Jager BV, Fred HL, Butler RB, et al: Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block . Am J Med 1960;29:888-893.Crossref 23. Cullen RF, Daroff RB, Popoff N: Early onset external ophthalmoplegia and retinopathy . Neurology 1973;23:406.Crossref 24. Daroff RB, Solitare GB, Pincus JH, et al: Spongiform encephalopathy with chronic progressive external ophthalmoplegia . Neurology 1966;16:161-169.Crossref 25. Kearns TP: External ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy: A newly recognized syndrome . Trans Am Ophthalmol Soc 1965;63:559-625. 26. Crosby TW, Chou SM: 'Ragged-red' fibers in Leigh's disease . Neurology 1974;24:49-54.Crossref 27. Rowland LP, Berenberg RA: Letter to the editor . Neurology 1974;24:598.Crossref 28. Joannard A, Machecourt D, Mouillon M, et al: Syndrome de Kearns avec hypocalcémie transitoire . Pédiatrie 1977;32:797-806. 29. Schneck L, Adachi M, Briet P, et al: Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue . J Neurol Sci 1973;19:37-44.Crossref 30. Lowes M: Chronic progressive external ophthalmoplegia, pigmentary retinopathy and heart block (Kearns-Sayre syndrome) . Acta Ophthalmol 1975;53:610-619.Crossref 31. Gadoth N: Chronic progressive external ophthalmoplegia with severe cardiac dysrhythmia . Isr J Med Sci 1977;13:159-160. 32. Pilling JB, Nanton MA: Progressive external ophthalmoplegia and heart block . Br Med J 1974;1:492-493.Crossref 33. Ross A, Lipschutz D, Austin J, et al: External ophthalmoplegia and complete heart block . N Engl J Med 1969;280:313-314.Crossref 34. Shastri SD, Tulgan H, Budnitz J, et al: Progressive ophthalmoplegia, retinitis pigmentosa and complete heart block . NY State J Med 1971;71:587-590. 35. Boltshauser E, Jerusalem F, Niemeyer G, et al: Kearns-Syndrom . Schweiz Med Wochenschr 1977;107:1880-1888. 36. Uppal SC: Kearns syndrome, a new form of cardiomyopathy . Br Heart J 1973;35:766-769.Crossref 37. Karpati G, Carpenter S, Larbrisseau A, et al: The Kearns-Shy syndrome . J Neurol Sci 1973;19:133-151.Crossref 38. Haas J, Haller P, Patzold U: Das Kearns-Syndrom . Dtsch Med Wochenschr 1976;101:1523-1528.Crossref 39. Drachman DA: Ophthalmoplegia plus . Arch Neurol 1968;18:654-674.Crossref 40. McComish M, Compston A, Jewitt D: Cardiac abnormalities in chronic progressive external ophthalmoplegia . Br Heart J 1976;38:526-529.Crossref 41. Carrol JE, Zwillich C, Weil JV, et al: Depressed ventilatory response in oculocraniosomatic neuromuscular disease . Neurology 1976;26:140-146.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Apr 1, 1981

References