Kearns-Sayre syndrome (KSS)

Evidence-based neurology checklist on kearns-sayre syndrome (kss): Diagnostic triad Progressive external ophthalmoplegia (PEO) Pigmentary retinopathy Cardiac conduction defects Ophthalmic features Neurological features Cardiac features Endocrine features Systemic features Differential diagnosis…

Diagnostic triad

  • Progressive external ophthalmoplegia (PEO)
  • Pigmentary retinopathy
  • Cardiac conduction defects

Ophthalmic features

Neurological features

Cardiac features

Endocrine features

Systemic features

Differential diagnosis

Magnetic resonance imaging (MRI): feature

Other investigations

Treatments

References

  1. Rahman S, Hanna MG. Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. JNNP 2009; 80:943-953.
  2. Tsang SH, Aycinena ARP, Sharma T. Mitochondrial disorder: Kearns-Sayre syndrome. Adv Exp Med Biol 2018; 1085:161-162.
  3. Sharma AK, Jain N, Kharwar RB, Narain VS. Classical triad of Kearns-Sayre syndrome. BMJ Case Rep 2016; 2016:bcr2016216500.
  4. Nguyen MTB, Micieli J, Margolin E. Teaching NeuroImages: Kearns-Sayre syndrome. Neurology 2019; 92:e519-e520. 
  5. Diamantopoulou P, Ward VM, Harries ML. Kearns-Sayre syndrome: presenting with vocal fold palsy. J Laryngol Otol 2001; 115:1021-1022.
  6. And 10 more. Subscribe to see the full list

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