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

Acta Neurol Scand Suppl. 2007;187:64-7. doi: 10.1111/j.1600-0404.2007.00850.x.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Addison Disease / diagnosis
  • Addison Disease / etiology
  • Addison Disease / physiopathology
  • Adrenal Cortex / immunology
  • Adrenal Cortex / physiopathology
  • Adult
  • Autoantibodies / immunology
  • Female
  • HLA Antigens / genetics
  • HLA Antigens / immunology
  • Humans
  • Hyperglycemia / diagnosis
  • Hyperglycemia / etiology
  • Hyperglycemia / physiopathology
  • Hypothyroidism / diagnosis
  • Hypothyroidism / etiology
  • Hypothyroidism / physiopathology
  • Kearns-Sayre Syndrome / complications*
  • Kearns-Sayre Syndrome / diagnosis
  • Kearns-Sayre Syndrome / physiopathology
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / immunology
  • Mitochondrial Diseases / metabolism
  • Polyendocrinopathies, Autoimmune / diagnosis
  • Polyendocrinopathies, Autoimmune / etiology*
  • Polyendocrinopathies, Autoimmune / physiopathology
  • Respiratory Insufficiency / etiology*
  • Respiratory Insufficiency / physiopathology
  • Sleep Apnea, Central / diagnosis
  • Sleep Apnea, Central / etiology
  • Sleep Apnea, Central / physiopathology
  • Thyroid Gland / immunology
  • Thyroid Gland / physiopathology

Substances

  • Autoantibodies
  • HLA Antigens