Kearns-Sayre syndrome
Updates to Article Attributes
Kearns-Sayre syndrome (KSS), also known as oculocraniosomatic disorder,is a rare multisystemmitochondrial disorder.
Clinical presentation
Patient often present with progressive external ophthalmoplegia 1. Neurologic symptoms develop in childhood or adolescence, usually before 20 years of age3.
Other features include
- cardiac conduction defects 4
- retinal pigmentation
- ptosis
Pathology
The disease is characterised by ragged ragged-red appearance of muscle fibers, and the presence of mtDNA with large deletions in affected affected tissues. It tends to affect peripheral white matter early and preferential involvement of the globi pallidi and thalami.
Genetics
It is sporadic in a majoirty of cases.
Radiographic features
CT brain
CT-scan shows basal ganglia siderocalcific deposits and subcortical calcifications (with or without basal ganglia deposits), and diffuse supratentorial and infratentorial atrophy.
MRI brain
Cerebral, cerebellar and brainstem atrophy are mainstay features of the disease2.
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 andGeorge Pomeroy Sayre Sayre in 1958 5
Differential diagnosis
Imaging differential considerations include
- other mitochondrial disorders, e.g. Leigh syndrome
-
chronic progressive external ophthalmoplegia (CPEO): some consider KSS as a syndromic variant of
CPEOCPEO
-<p><strong>Kearns-Sayre syndrome (KSS)</strong>, also known as <strong>oculocraniosomatic disorder</strong>,<strong> </strong>is a rare multisystem <a href="/articles/mitochondrial-disorders">mitochondrial disorder</a>. </p><h4>Clinical presentation</h4><p>Patient often present with progressive external ophthalmoplegia <sup>1</sup>. Neurologic symptoms develop in childhood or adolescence, usually before 20 years of age <sup>3</sup>.</p><p>Other features include</p><ul>- +<p><strong>Kearns-Sayre syndrome (KSS)</strong>, also known as <strong>oculocraniosomatic disorder</strong>,<strong> </strong>is a rare multisystem <a href="/articles/mitochondrial-disorders">mitochondrial disorder</a>. </p><h4>Clinical presentation</h4><p>Patient often present with progressive external ophthalmoplegia <sup>1</sup>. Neurologic symptoms develop in childhood or adolescence, usually before 20 years of age <sup>3</sup>.</p><p>Other features include</p><ul>
-</ul><h4>Pathology</h4><p>The disease is characterised by ragged-red appearance of muscle fibers, and the presence of mtDNA with large deletions in affected tissues. It tends to affect peripheral white matter early and preferential involvement of the globi pallidi and thalami.</p><h5>Genetics</h5><p>It is sporadic in a majoirty of cases.</p><h4>Radiographic features</h4><h5>CT brain</h5><p>CT-scan shows basal ganglia siderocalcific deposits and subcortical calcifications (with or without basal ganglia deposits), and diffuse supratentorial and infratentorial atrophy.</p><h5>MRI brain </h5><p>Cerebral, cerebellar and brainstem atrophy are mainstay features of the disease <sup>2</sup>.</p><p>Signal characteristics include</p><ul><li>-<strong>T2</strong>: subcortical prolongation with subcortical calcifications, with or without bilateral basal ganglia siderocalcific deposits.</li></ul><h4>History and etymology</h4><p>It was initially described by <strong>Thomas P. Kearns</strong> and <strong>George Pomeroy Sayre</strong> in 1958 <sup>5 </sup></p><h4>Differential diagnosis</h4><p>Imaging differential considerations include</p><ul>- +</ul><h4>Pathology</h4><p>The disease is characterised by ragged-red appearance of muscle fibers, and the presence of mtDNA with large deletions in affected tissues. It tends to affect peripheral white matter early and preferential involvement of the globi pallidi and thalami.</p><h5>Genetics</h5><p>It is sporadic in a majoirty of cases.</p><h4>Radiographic features</h4><h5>CT brain</h5><p>CT-scan shows basal ganglia siderocalcific deposits and subcortical calcifications (with or without basal ganglia deposits), and diffuse supratentorial and infratentorial atrophy.</p><h5>MRI brain </h5><p>Cerebral, cerebellar and brainstem atrophy are mainstay features of the disease <sup>2</sup>.</p><p>Signal characteristics include</p><ul><li>
- +<strong>T2</strong>: subcortical prolongation with subcortical calcifications, with or without bilateral basal ganglia siderocalcific deposits.</li></ul><h4>History and etymology</h4><p>It was initially described by <strong>Thomas P. Kearns</strong> and <strong>George Pomeroy Sayre</strong> in 1958 <sup>5 </sup></p><h4>Differential diagnosis</h4><p>Imaging differential considerations include</p><ul>
-<a href="/articles/chronic-progressive-external-ophthalmoplegia-cpeo">chronic progressive external ophthalmoplegia (CPEO)</a>: some consider KSS as a syndromic variant of CPEO</li>- +<a href="/articles/chronic-progressive-external-ophthalmoplegia-cpeo">chronic progressive external ophthalmoplegia (CPEO)</a>: some consider KSS as a syndromic variant of CPEO</li>