Clinical evolution of Kearns‐Sayre syndrome with polyendocrinopathy and respiratory failure

Background – The triad of progressive external ophthalmoplegia, atypical retinal pigmentation and cardiac conduction defects characterizes Kearns‐Sayre syndrome (KSS), which is most often caused by a single, large deletion of mitochondrial DNA. Endocrine disease appears to be more common in KSS than in other mitochondrial diseases. Materials, methods and results – A patient presenting with KSS developed Addison’s disease, hypothyroidism and glucose intolerance. Thyroid peroxidase antibodies and adrenal 21‐hydroxylase antibodies were identified. She developed acute respiratory failure requiring invasive ventilatory support, but improved and currently requires only non‐invasive, nocturnal BiPAP treatment. Discussion and conclusion – This case confirms the association of KSS and endocrine dysfunction. Our finding of autoantibodies to thyroid and adrenal glands distinguishes this patient from most other published cases and suggests a potential synergy between the two disease mechanisms. In addition, we demonstrate that respiratory failure can be a treatable event in this disease.