Kearnssayre syndrome is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Apr 28, 2020 clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. An important clinical symptomatic feature is the presence of droopy eyelids ptosis in one or both eyes. Kearnssayre syndrome is now known to be associated with basal ganglia hypodensities on ct scans 2, 3. It is the result of abnormalities in the dna of mitochondria small rodlike structures found in every cell of the body that produce the energy that drives cellular functions. Kearnssayre syndrome kss is a mitochondrial disorder consisting of external ophthalmoplegia, retinitis pigmentosa, ataxia and heart block. Kearnssayre syndrome presenting as complete heart block. Does kearns sayre syndrome affect any one specifically. Genedx 207 perry parkway gaithersburg, md 20877 toll free. Retinitis pigmentosa, external ophthalmophegia, and complete heart block. Why dont kids inherit kearnssayre syndrome from their dad. Kearnssayre syndrome kss is a multisystem mitochondrial disorder characterized by the invariant triad i onset before 20 years of age. A revised and updated directory for the internet age icon health publications on. Some patients manifest leigh syndrome or kearns sayre syndrome.
Kearnssayre syndrome kss is a rare mitochondrial disorder characterized by largescale deletions of mitochondrial dna. Kearnssayre syndrome, hypoparathyroidism, and basal. Kearnssayre syndrome genetic and rare diseases information. The official parents sourcebook on kearnssayre syndrome. Treatment for kearnssayre syndrome is generally symptomatic and supportive. However, this condition was recognized as a syndrome only in 1965 and was renamed as kearns sayre syndrome kss. As of 1992 there were only 226 cases reported in published literature. Kearns sayre syndrome nord national organization for rare. Chronic progressive external ophthalmoplegia cpeo kearns. When these three criteria are met, csf protein level greater than 100 mgdl and heart block are almost always found. Read ebook the official parents sourcebook on kearns.
Followup of folinic acid supplementation for patients. The kearnssayre syndrome can be recognized when atypical pigmentary degeneration of the retina and external ophthalmoplegia occur before age 15 years. We report a patient with kearns sayre syndrome who had. Kearnssayre is a mitochondrial disorder, not a sex linked trait. We report a case of a 14yearold boy diagnosed and treated as. A mitochondrial disorder featuring the triad of chronic progressive external ophthalmoplegia, cardiomyopathy cardiomyopathies with conduction block heart block, and retinitis pigmentosa. Cardiac conduction defects may be present or develop over time. Kearnssayre syndrome is a condition that affects many parts of the body, especially the eyes. Cardiac involvement is reported in approximately 50% of cases. Dec 17, 2014 kearns sayre syndrome kss is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy a saltandpepper pigmentation in the retina that can affect vision, but often leaves it intact, and progressive external ophthalmoplegia peo. Get a printable copy pdf file of the complete article 4. Kss is a more severe syndromic variant of chronic progressive external ophthalmoplegia abbreviated cpeo, a syndrome that is characterized by isolated involvement. Leighs disease, mitoparents talk about finding the right doctor to work with your family. Our aim was to assess the clinical and neuroimaging outcomes of kss patients receiving folinic acid therapy.
Two studies have provided congruent information on the prevalence of largescale mitochondrial deletions in the adult population. We report a case of a 14yearold boy diagnosed and treated as myasthenia gravis for. The kearnssayre syndrome kss appears to be a distinctive disorder characterized by progressive external ophthalmoplegia, pigmentary degeneration of the retina, heart block, and elevated csf protein levels. Kearnssayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder. It is a rare syndrome characterized by the triad of progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction system disturbances 2. Nerad emphasizes that there are two primary forms of ptosis.
Kearnssayre syndrome is characterised by the development of progressive external ophthalmoplegia, ptosis, and retinitis pigmentosa with onset before the age. The features of kearns sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. Management options include placement of cardiac pacemakers in individuals with cardiac conduction blocks, eyelid slings for severe ptosis, cochlear implants and hearing aids for neurosensory hearing loss, hormone replacement for endocrinopathies, dilation of the upper. Kss belongs in part to a group of rare disorders known as mitochondrial encephalomyopathies. Download file free book pdf the official parents sourcebook on kearnssayre syndrome. People with kearns sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis.
Kearns sayre syndrome nord national organization for. Kearnssayre syndrome information page national institute. Management options include placement of cardiac pacemakers in individuals with cardiac conduction blocks, eyelid slings for severe ptosis, cochlear implants and hearing aids for neurosensory hearing loss, hormone replacement for endocrinopathies, dilation of the upper esophageal sphincter to alleviate cricopharyngeal. Prof yogesh gupata b6, medical colony, aligarh up 202002, india. Mr of kearnssayre syndrome in 1958, kearns and sayre 1 reported two cases of the clinical triad of progressive external ophthalmoplegia, retinal pigmentary degeneration, and complete heart block. Around 50% of patients develop conductive abnormalities that can ultimately lead to a complete atrioventricular block or bradycardiarelated polymorphic ventricular tachycardia. Manometric study in kearnssayre syndrome diseases of.
Pdf kearns sayre syndrome is a multisystem mitochondrial myopathy which has rarely seen. Kearns sayre syndrome, leigh syndrome, mitochondrial dna depletion syndrome, progressive external ophthalmoplegia raptor pharmaceuticals inc. Kearnssayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna. Chronic progressive external ophthalmoplegia cpeo kearns sayre syndrome dr. Kearns sayre syndrome is a mitochondrial myopathy with onset before the age of 20 years 1. Only mothers pass it on to their children because only the eggs mitochondria remains after fertilization, because the sperms mitochondria is in the tail, which is shot off after fertilization. This disease is mostly characterized by three primary findings. People with kearnssayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that. Kearns sayre syndrome is now known to be associated with basal ganglia hypodensities on ct scans 2, 3.
The syndrome results from an abnormality in the dna of mitochondria, which are small structures found in each cell of a persons body and produce energy that drives their cellular functions. Elevated csf protein, sensorineural deafness, seizures, and pyramidal. The kearns sayre syndrome is an uncommon neuromuscular condition that affects those below 20 years of age. Kearnssayre syndrome, leigh syndrome, mitochondrial dna depletion syndrome, progressive external ophthalmoplegia raptor pharmaceuticals inc. Kearnssayre syndrome occurs spontaneously in the majority of cases. Kearnssayre syndrome kss, oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder with ragged red fibers, is a mitochondrial myopathy with a typical onset before 20 years of age. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for kearnssayre syndrome. Treatment of heart problems in kss may require a prophylactic pacemaker. Kearnssayre syndrome archives mitochondrial disease news. Clinical presentation the patient often presents with progressive external ophthalmoplegia 1.
Other clinical features are failure to thrive, pancreatic fibrosis with insulindependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. We report a case of a 14yearold boy diagnosed and treated as myasthenia gravis for 4 years who was eventually diagnosed with kss. Kearnssayre syndrome is a rare neuromuscular disorder characterized by three primary findings. Chronic progressive external ophthalmoplegia cpeo kearns sayre syndrome. In some cases it has been shown to be inherited through mitochondrial, autosomal dominant, or autosomal recessive inheritance. The cerebral spongiform state found in this syndrome was later described by daroff.
Kearns sayre syndrome does not affect a particular racial or ethnic group and affects males and females equally. Kearnssayre syndrome kss is a mitochondrial dna deletion syndrome that presents with profound cerebral folate deficiency and other features. Kearnssayre syndrome is caused by defects in mitochondria, which. It is the result of abnormalities in the dna of mitochondria small rodlike structures found in every cell of the body that produce the. In 1958, kearns and sayre were the first to report two cases having the triad of retinitis pigmentosa. Only a small number of cases have been reported in the literature, making this a very rare disorder. In 1958, kearns and sayre wrote a report of two cases of a syndrome characterized by external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction disorders. Kearns sayre syndrome charles shepherd bio 3 background rare neuromuscular disorder only 226 cases reported in literature effects mitochondria large duplications or deletions in mitochondrial dna bp results in under or over production of mitochondrial gene products cases 4977bp deletion randomly effects people only isolated reports. Preliminary data support the notion that folinic acid therapy might be useful in the treatment of kss patients. Hence it is also known as kearns sayre daroff syndrome. Manometric study in kearnssayre syndrome diseases of the. Anesthetic management for a patient with kearnssayre syndrome. Full text get a printable copy pdf file of the complete article 1.
Kearnssayre syndrome kss, a form of mitochondrial myopathy, is an extremely rare disease accompanied by progressive external ophthalmoplegia, pigmented degeneration of the retina, and heart block. Other findings in the syndrome may include muscle weakness, short stature, hearing loss, and the loss of ability to coordinate voluntary movements due to problems in the part of the brain called the cerebellum. Kearnssayre syndrome does not affect a particular racial or ethnic group and affects males and females equally. The features of kearnssayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. Kearnssayre syndrome kearns syndrome information page. Case report kearns sayre syndrome kss a rare cause for.
Kearns sayre syndrome kss is a form of rare neuromuscular disorder that commonly begins affecting people before they reach the age of twenty. This sourcebook has been created for parents who have decided to make education and internetbased research an integral part of the treatment process. The official parents sourcebook on kearns sayre syndrome. Pdf anesthesia management of a patient with kearn%u2019s. Basal ganglia calcification in kearnssayre syndrome. Source national institutes of health nih ophanet, a consortium of european partners, currently defines a condition rare when it affects 1 person per 2,000. Pdf background kearnssayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958. What is a gene mutation and how do mutations occur. This means that kearns sayre syndrome, or a subtype of kearns sayre syndrome, affects less than 200,000 people in the us population. Kearnssayre syndrome symptoms, diagnosis, treatments and. Mar 27, 2019 kearns sayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. Kearnssayre syndrome kss is a form of rare neuromuscular disorder that commonly begins affecting people before they reach the age of twenty. In the last years of his life he suffered from cardiac arrhythmias and a congestive cardiomyopathy, dying of cardiac pump failure. Pdf file of the complete article 412k, or click on a page image below to browse page by page.
We therefore conclude that this patient has developed the kearnssayre syndrome after a pearson syndromelike crisis in her first year of life. A report on a rare case of kearns sayrelike syndrome. This involves cardiac conduction disorders with varying degrees of severity. This means that kearnssayre syndrome, or a subtype of kearnssayre syndrome, affects less than 200,000 people in the us population. When these three criteria are met, csf protein level greater than. Fatal mitochondrial cardiomyopathy in kearnssayre syndrome. Kearnssayre syndrome charles shepherd bio 3 background rare neuromuscular disorder only 226 cases reported in literature effects mitochondria large duplications or deletions in mitochondrial dna bp results in under or over production of mitochondrial gene products cases 4977bp deletion randomly effects people only isolated reports.
Kearnssayre syndrome kss is a rare neuromuscular disorder. In 1958, kearns and sayre were the first to report two cases having the triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Links to pubmed are also available for selected references. Read ebook the official parents sourcebook on kearnssayre. It is a disease with a wide continuum of phenotypes ranging from mild forms of ptosis to multisystemic disorders resulting in early death.
Pdf kearnssayre syndrome kss is a rare neuromuscular disorder. Disease summary kearnssayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna. Kearns sayre syndrome is a condition that affects many parts of the body, especially the eyes. Kearns sayre syndrome kss is a rare neuromuscular disorder. Basal ganglia calcification in kearnssayre syndrome jama.
The clinical and postmortem findings in a 26 year old man with kearnssayre syndrome are described. There is no predilection for race or sex, and there are no known risk factors. Kearns sayre syndrome kss, a form of mitochondrial myopathy, is an extremely rare disease accompanied by progressive external ophthalmoplegia, pigmented degeneration of the retina, and heart block. Kearns sayre syndrome is one of the mitochondrial encephalomyopathies. Kearnssayre syndrome symptoms, treatment, causes, prognosis. The kearns sayre syndrome can be recognized when atypical pigmentary degeneration of the retina and external ophthalmoplegia occur before age 15 years. We report a patient with kss who underwent emergency surgery under general anesthesia uneventfully, but who developed respiratory depression and. It results from abnormalities in the dna of mitochondria small rodlike structures found in every cell of the body that produce the energy that drives cellular functions.
External ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy. Mr of kearns sayre syndrome in 1958, kearns and sayre 1 reported two cases of the clinical triad of progressive external ophthalmoplegia, retinal pigmentary degeneration, and complete heart block. Kearns sayre syndrome kss is a rare multisystemic disorder. Some patients manifest leigh syndrome or kearnssayre syndrome. The key triad of features includes progressive external ophthalmoplegia, pigmentary retinal dystrophy and onset before 20 years of age.
Here, we discuss a 10yearold patient with diabetes mellitus who presented in complete heart block leading to the diagnosis of kss. Full text full text is available as a scanned copy of the original print version. Kearnssayre syndrome, hypoparathyroidism, and basal ganglia calcification. Less consistent features were weakness of facial, pharyngeal, trunk and extremity muscles, deafness, small. Kearnssayre syndrome is a mitochondrial dna mtdna deletion syndrome. Congenital ptosis is manifested at birth and is associated with poor levator function and absent upper lid crease.
Hence it is also known as kearnssayredaroff syndrome. Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Kearnssayre syndrome is one of the mitochondrial encephalomyopathies. It is a disease with a wide continuum of phenotypes. A revised and updated directory for the internet age at complete pdf library.
The kearnssayre syndrome is an uncommon neuromuscular condition that affects those below 20 years of age. Jan 24, 2017 other findings in the syndrome may include muscle weakness, short stature, hearing loss, and the loss of ability to coordinate voluntary movements due to problems in the part of the brain called the cerebellum. Kearnssayre syndrome kss is a rare mitochondrial myopathy characterized by external ophthalmoplegia, pigmentary retinopathy, cerebellar ataxia and heart block. Kearns 1965 reported 9 unrelated patients with ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy as leading features. Kearnssayre syndrome kss is a rare mitochondrial cytopathy. Dec 17, 2014 treatment for kearns sayre syndrome is generally symptomatic and supportive. Treatment of kss includes monitoring for the development of. Kearnssayre syndrome kss is a rare multisystemic disorder.
Kearnssayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. Patients typically present with some combination of weakness, myopathy, ptosis, ophthalmoplegia, retinal pigmentary abnormalities, hearing loss and short stature. Marked heterogeneity and various types of inheritance have been observed. The triad of cpeo, bilateral pigmentary retinopathy, and cardiac conduction abnormalities was first described in a case report of two patients in 1958 by thomas p. Jul 05, 2019 kearns sayre syndrome is a rare disorder. Recent reports have suggested that abnormalities of muscle mitochondria may also be a consistent finding in kss. The condition is generally characterized by a progressive paralysis of the eye muscles, discoloration of the retina, and cardiomyopathy. A g dewhurst, d hall, m s schwartz, and r o mckeran. Neuromuscular and cardiac conduction systems are most commonly involved in these patients. Kearns sayre syndrome kss is a mitochondrial disorder characterised by onset before the age of 20 years, progressive external ophthalmoplegia, pigmentary retinopathy. The clinical and postmortem findings in a 26 year old man with kearns sayre syndrome are described. Kearns sayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder.
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