Citation, DOI & article data
Kearns-Sayre syndrome (KSS), also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder.
The patient often presents with progressive external ophthalmoplegia 1. Neurologic symptoms develop in childhood or adolescence, usually before 20 years of age 3.
Other features include:
- cardiac conduction defects 4
- retinal pigmentation
The disease is characterized by the ragged-red appearance of muscle fibers, and the presence of mitochondrial DNA (mtDNA) with large deletions in affected tissues. It tends to affect peripheral white matter early and preferential involvement of the globi pallidi and thalami.
It is sporadic in a majority of cases.
CT scan of the brain shows basal ganglia siderocalcific deposits and subcortical calcifications (with or without basal ganglia deposits), and diffuse supratentorial and infratentorial atrophy.
Cerebral, cerebellar and brainstem atrophy are mainstay features of the disease 2.
Signal characteristics include:
- T2: subcortical prolongation with subcortical calcifications, with or without bilateral basal ganglia siderocalcific deposits.
History and etymology
It was initially described by Thomas P Kearns and George Pomeroy Sayre in 1958 5.
Imaging differential considerations include
- other mitochondrial disorders, e.g. Leigh syndrome
- chronic progressive external ophthalmoplegia (CPEO): some consider KSS as a syndromic variant of CPEO
- 1. Sakai Y, Kira R, Torisu H et-al. Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases. AJNR Am J Neuroradiol. 2006;27 (9): 1924-6. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 2. Wray SH, Provenzale JM, Johns DR et-al. MR of the brain in mitochondrial myopathy. AJNR Am J Neuroradiol. 1995;16 (5): 1167-73. AJNR Am J Neuroradiol (abstract) - Pubmed citation
- 3. Millar WS, Lignelli A, Hirano M. MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy. AJR Am J Roentgenol. 2004;182 (6): 1537-41. doi:10.2214/ajr.182.6.1821537 - Pubmed citation
- 4. Channer KS, Channer JL, Campbell MJ et-al. Cardiomyopathy in the Kearns-Sayre syndrome. Br Heart J. 1988;59 (4): 486-90. Free text at pubmed - Pubmed citation
- 5. Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol. 2000;60 (2): 280-9. Pubmed citation