RETRACTED ARTICLE: Kearns Sayre Syndrome—Case Report with Review of Literature

Abstract

Kearns-Sayre Syndrome is form of rare mitochondrial cytopathy, first described by Thomas P. Kearns and George Pomeroy Sayre in 1958 and is characterized by progressive external opthalmoplegia, cardiac conduction block, pigmentary retinal degeneration, variable number of red ragged fibers on muscle biopsy. It presents before the child reaches the age of twenty. Kearns-Sayre syndrome may affect many organ systems and additional features may include myopathy, dystonia, bulbar symptoms in the form of dysarthria and nasal regurgitation and bilateral facial weakness. Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features. Kearns Sayre Syndrome occurs as a result of large-scale single deletions (or rearrangements) of mitochondrial DNA (mtDNA), which is usually not inherited but occurs spontaneously, probably at the germ-cell level or very early in embryonic development. No disease-modifying therapy is available for Kearns-Sayre syndrome (KSS). Management is supportive vigilance for detection of associated problems. In the future, potential treatment in patients with Kearns-Sayre syndrome may attempt to inhibit mutant mtDNA replication or encourage replication of wild-type mtDNA.

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome

“…[ 16 ] In the present study, however, only five KSS patients (26.3%) had hearing loss, much lower than the incidence of 64.0% in Japanese patients,[ 13 ] suggesting thorough auditory function evaluation is needed in these KSS patients to detect subclinical hearing loss in the future. Proximal muscle weakness was reported in some KSS patients in other studies,[ 4 17 ] but it was not common in our patients. Follow-up showed that the greatest impairments affecting KSS patients were cerebellar signs and heart problems.…”

MELAS and Kearns–Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions

“…Brain MRI usually shows large lobe lesions, brain atrophy with or without basal ganglia calcification. In contrast, myoclonus epilepsy, heart block (WPW), pigmentary retinopathy, sensorineural hearing loss, premature graying pigmentary retinopathy, partial heart block, and diffuse white matter MRI alterations are features of the KSS syndrome [3] . Cerebellar ataxia is common in both conditions.…”

“…MELAS syndrome is commonly associated with an A to G transition at nt 3243 of the mtDNA. In contrast, KSS is a mitochondrial disorder characterized by the early-aged onset of progressive external ophthalmoplegia or pigmentary retinopathy, together with at least one of a triad of cerebellar ataxia, heart block and elevated cerebrospinal fluid protein [3] . Typically, KSS is due to single large-scale mtDNA deletions and is almost always sporadic.…”

Perspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease

“…As in other mitochondrial disorders, this syndrome is inherited exclusively through the maternal line, because all mitochondria in the zygote are maternal in origin [40]. The clinical presentation of KSS is determined by the degree of muscular involvement, and in most patients, onset is between 15 and 20 years of age [41][42][43].…”