[MIM 530 000]

(Kearns-Sayre-Shy-Daroff syndrome)

Rare: estimated prevalence between 1 and 3/100,000. Sporadic mitochondrial cytopathy due to the presence of large mitochondrial DNA deletions.  It is characterized by the onset of ophthalmoplegia, ptosis and retinitis pigmentosa before 20 years of age. The most frequent associated symptoms are deafness, cardiac involvement (cardiomyopathy, cardiac conduction disorders), cerebral involvement (ataxia, hyperproteinorachia, intellectual retardation), skeletal muscle myopathy, intestinal transit disorders, hormonal deficiencies (hypoparathyroidism, diabetes) and renal failure. The disease is slowly progressive.

A few rare Pearson syndromes (see this term) have evolved into Kearns-Sayre syndrome. Diagnosis is based on the clinical presentation and the existence of typical morphological changes in the skeletal muscle (fibers with mitochondrial proliferation or "Ragged Red Fibers" and fibers deficient in cytochrome c oxidase activity).

Treatment is symptomatic: pacemaker, defibrillator. Prognosis depends essentially on the spread of symptoms.

Anesthetic implications:

see mitochondrial cytopathies; management of a patient with a pacemaker or internal defibrillator (which has to be desactivated before surgery); increased sensitivity to the respiratory depressant effects of general anesthetics (including N2O ?). Risk of decompensated diabetes mellitus in cas of administration of corticoids

References :

-        D’Ambra MN, Dedrick D, Savarese JJ.
Kearns-Sayre syndrome and pancuronium-succinylcholine-induced neuromuscular blockade.
Anesthesiology 1979; 51: 343-5

-        Curless RG, Flynn J, Bachynski B, Gregorios JB, Benke P, Cullen R.
Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome.
Neurology 1986;36:872-3.

-        Estes R, Ginsberg B, Bloch EC.
Anaesthesia and Kearns-Sayre syndrome.
Pediatr Anesth 1993; 3: 307-11.

-        Lauwers MH, Van Lersberghe C, Camu F.
Inhalation anaesthesia and the Kearns-Sayre syndrome.
Anaesthesia 1994; 49:876-80.

-        Pivalizza EG, Ando KJ, Sweeney MS.
Kearns-Sayre syndrome and cardiac anesthesia.
J Cardiovasc  Thorac Anesth 1995; 9: 189-91

-        Kitoh T, Mizuno K, Otagiri T, Ichinose A, Sasao J, Goto H.
Anesthetic management for a patient with Kearns-Sayre syndrome.
Anesth Analg 1995; 80: 1204-2

-        Hara K, Sata T, Shigamatsu A.
Anesthetic management for a cardioverter-defibrillator implantation in a patient with Kearns-Sayre syndrome.
J Clin Anesth 2004; 16: 539-41.

-        Baldwin MK, Nembhard VN.
Anesthetic considerations in a teenager with advanced symptoms of Kearns-Sayre syndrome.
Pediatr Anesth 2009; 19:639-40

-        Faris AS, Tawfic QA,Jeyaraj L.
Obstetric anesthesia considerations in Kearns-Sayre syndrome.
Korean J Anesthesiol 2014; 67: 283-6.

-        Warncke KA, Marshall JM.
A patient with Kearns Sayre syndrome and Charcot-Marie-Tooth for supraventricular tachycardia ablation: a case report.
A&A Practice 2021;15:e01488

-        Finsterer J.
Anesthetic management in double-trouble Kearns-Sayre syndrome and Hereditary Neuropathy is feasible but delicate (letter).
A&A Practice 2021;15:9 doi 10.1213/XAA.000000000000152

Updated: June 2023