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CURRENT ISSUEPANMINERVA MEDICA

A Journal on Internal Medicine


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Panminerva Medica 2002 September;44(3):265-9

 CASE REPORTS

A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy

Berio A., Piazzi A.

Chair of Pediatrics DIPE University of Genoa, Genoa, Italy

The Kearns-Sayre syn­drome (char­ac­ter­ized by ­onset ­before 20, ­chronic oph­thal­mo­plegia, pig­men­tary ret­inal degen­er­a­tion and at ­least 1 of the fol­lowing symp­toms: ­ataxia, ­heart ­block and ­high pro­tein con­tent in the cere­bro­spinal ­fluid) is a ­severe var­iant of ­chronic pro­gres­sive ­external oph­thal­mo­plegia (CPEO) ­with fre­quent re-ar­range­ments of the mit­o­chon­drial DNA (mtDNA). The aim of ­this ­paper is to ­report a spo­radic paed­i­atric ­case of Kearns-Sayre syn­drome ­with mtDNA het­er­o­plasmic dele­tion, ­absence of cyto­chrome c oxi­dase in ­many ­muscle ­fibers, auto­im­mune thyr­oid­itis fol­lowed by depres­sive ­phobic dis­tur­bances, ­slowing EEG, hyper­re­flexia, ­tremor and ­visual hal­lu­ci­na­tions, in ­which the diag­nosis of pos­sible enceph­a­lop­athy asso­ciated ­with auto­im­mune thy­roid dis­ease (Hashimoto enceph­a­lop­athy) was ­made. We spec­u­lated ­that in ­this ­patient, pre­dis­posed by mit­o­chon­drial dele­tion, ­anti-thy­roid anti­bodies may ­have inter­fered ­with mit­o­chon­drial cere­bral func­tion, ­causing Hashimoto enceph­a­lop­athy and facil­i­tating oph­thalmo­plegia. It ­seems impor­tant to ­study ­anti-thy­roid anti­bodies in ­every ­case of Kearns-Sayre syndrome, spe­cially if oph­thal­mo­plegia is ­recent, ­even in ­order to the ­therapy.

language: English


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