IngentaConnect Clinical evolution of Kearns-Sayre syndrome with polyendocrinopat...

Authors: Sanaker, P. S.; Husebye, E. S.; Fondenes, O.¹; Bindoff, L. A.

Source: Acta Neurologica Scandinavica, Volume 115, Supplement 187, May 2007 , pp. 64-67(4)

Abstract:

Sanaker PS, Husebye ES, Fondenes O, Bindoff LA. Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure.

Acta Neurol Scand 2007: 115 (Suppl. 187): 64-67.

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.

Keywords: endocrine disease; Kearns Sayre syndrome; mitochondrial disease; respiratory failure

Document Type: Research article

DOI: 10.1111/j.1600-0404.2007.00850.x

Affiliations: 1: Norwegian Centre for Home Mechanical Ventilation, Department of Pulmonology, Haukeland University Hospital, Bergen, Norway

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