title: A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy.
abstract: 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.
authors.affiliation: DIPE, University of Genoa, Genoa, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Berio
authors.forename: A
authors.initials: A
authors.lastname: Piazzi
mesh_terms: D001927:Brain Diseases / Q000209:etiology*; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000235:genetics; D013967:Thyroiditis, Autoimmune / Q000150:complications*
chemical_list: D004272:DNA, Mitochondrial