Kearns-Sayre Syndrome. Two Clinico-Pathological Cases

C. Bordarier; C. Duyckaerts; O. Robain; G. Ponsot; D. Laplane

doi:10.1055/s-2008-1071473

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Neuropediatrics 1990; 21(2): 106-109
DOI: 10.1055/s-2008-1071473

Case report

Kearns-Sayre Syndrome. Two Clinico-Pathological Cases

C. Bordarier¹ , C. Duyckaerts² , O. Robain¹ , G. Ponsot³ , D. Laplane⁴

¹Laboratoire de Neuropathologie, Hôpital St Vincent de Paul, 74, Avenue Denfert-Rochereau, F-75014 Paris
²Laboratoire de Neuropathologie, La Salpêtrière, Paris
³Service de Neuropédiatrie, Hôpital St Vincent de Paul, Paris
⁴Clinique des Maladies du Système Nerveux, La Salpêtrière, Paris

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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Two clinico-pathological cases of Kearns-Sayre syndrome are reported. In both cases the typical triad (progressive external ophthalmoplegia, heart block, retinitis pigmentosa) was present and spongiosis was the main pathological finding. In one case there was also a marked capillary proliferation, significance of which is discussed. A deletion of the mitochondrial DNA was found in the muscle, spinal cord and brain of this last case.

Key words

Kearns-Sayre syndrome - Mitochondrial DNA deletion - Leigh's disease - Capillary proliferation - Spongiform encephalopathy - Demyelination

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