Kearnssayre syndrome is now known to be associated with basal ganglia hypodensities on ct scans 2. Advanced linear algebra textbooks in mathematics download. Kearns sayre syndrome seems to occur sporadically is not inherited. Cardiac involvement is reported in approximately 50% of cases. It is a progressive disorder, and the prognosis for patients with the condition is poor. Kss is a more severe syndromic variant of chronic progressive external ophthalmoplegia abbreviated cpeo, a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid levator palpebrae. A revised and updated directory for the internet age icon health publications on. The official parents sourcebook on kearns sayre syndrome.
Kearns sayre syndrome belongs to a group of mitochondrial dna deletion syndromes, together with pearson syndrome and progressive external ophthalmoplegia peo. A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia peo, pigmentary. 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. Eric c sayre, ali guermazi, john m esdaile, jacek a kopec, joel singer. The features of kearns sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms.
Kearnssayre syndrome kss is a mitochondrial myopathy with a typical onset before 20 years of age. The kearns sayre syndrome in three members of a consanguineous colombian family. This is the first case to be linked to a nuclear gene defect. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal fluid csf protein content, and proximal myopathy. The cause of this deletion is unknown but genealogists are working to find the reason this happens. Kearns sayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder. Kearnssayre syndrome symptoms, diagnosis, treatments and. Create marketing content that resonates with prezi video. Some of the most common symptoms include limited eye movements, eyelids that droop, skeletal muscle. Kearnssayre syndrome is caused by defects in mitochondria, which are. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Kearnssayre syndrome kss is a rare neuromuscular disorder.
Clinical presentation the patient often presents with progressive external ophthalmoplegia 1. Less consistent features were weakness of facial, pharyngeal, trunk and extremity muscles, deafness, small stature. 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. These disorders are due to defects in the dna of the mitochondria, the cell structures that produce energy.
Kearns sayre syndrome is due to defects in the dna in mitochondria, the parts of cells that generate energy for the body to do its work. Kearns sayre syndrome kss is part of the subclass of mitochondrial diseases known as mitochondrial myopathy. Pronunciation of kearns sayre syndrome with 2 audio pronunciations, 1 meaning, 10 translations and more for kearns sayre syndrome. The three classic phenotypes caused by mtdna deletions are kearns. Mitochondrial dna mtdna deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex i. Kearnssayre syndrome kss is a rare multisystemic disorder. People with kearnssayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and. 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. A team from spain tested this theory in the article followup of folinic acid supplementation for patients with cerebral folate deficiency and kearnssayre syndrome, which was published in orphanet journal of rare diseases. Watch the to remember kearnssayre syndrome in a simplified way.
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. A team from spain tested this theory in the article followup of folinic acid supplementation for patients with cerebral folate deficiency and kearnssayre syndrome, which was published in. Genedx 207 perry parkway gaithersburg, md 20877 toll free. Kearnssayre syndrome definition of kearnssayre syndrome. The condition is generally characterized by a progressive paralysis of the eye muscles, discoloration of the retina, and cardiomyopathy. 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. Florence hines is a 40yearold elementary school teacher and mother of five children. An important clinical symptomatic feature is the presence of droopy eyelids ptosis in one or both eyes. Kearnssayer syndrome kearns syndrome kearnsayre mitochondrial cytopathy kearns syndrome kearnssayreshydaroff syndrome cytopathy, kearnsayre mitochondrial kearn sayre mitochondrial cytopathy.
Kearnssayre syndrome is one of the mitochondrial encephalomyopathies. Only a small number of cases have been reported in the literature, making this a very rare disorder. The condition features paralysis of the eyemoving muscles with double vision. Kearnssayre syndrome is a condition that affects many parts of the body, especially the eyes. Kearnssayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna. Kearns sayre syndrome does not affect a particular racial or ethnic group and affects males and females equally. Kearnssayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder. Apr 21, 2020 kearns sayre syndrome, or kss, is a neuromuscular disorder that usually only affects people under the age of 20. Stay connected to your students with prezi video, now in microsoft teams. Kearnssayre syndrome genetic and rare diseases information. Feb 28, 2016 watch the to remember kearns sayre syndrome in a simplified way. Kearnssayre syndrome kearnssayre syndrome is when the mitochondria in dna becomes abnormal, and does not do its proper fucntions. George gao national institute for viral disease control and prevention. Types of mitochondrial myopathies kearnssayre syndrome kss onset.
Chronic progressive external ophthalmoplegia cpeo kearns sayre syndrome. Chronic progressive external ophthalmoplegia cpeo kearns sayre syndrome dr. Kearns sayre 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. Kearnssayre syndrome kernz sar, mim530000 a form of chronic progressive external ophthalmoplegia with associated cardiac conduction defects, short stature, and hearing loss. These defects cause the brain and muscles to function abnormally encephalomyopathy. People with kearnssayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs. Kearns 1965 reported 9 unrelated patients with ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy as leading features.
We also provide important insight into how rrm2b mutations cause disease by demonstrating impaired rnr assembly using blue native gel electrophoresis. The syndrome of a slowly progressive external ophthalmoplegia, pigment retinopathy, and disorder of cardiac conduction was described by kearns and sayre in 1958. It is a disease with a wide continuum of phenotypes ranging from mild forms of ptosis to multisystemic disorders resulting in early death. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal. Kearnssayre syndrome symptoms, treatment, causes, prognosis. 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. Does kearns sayre syndrome affect any one specifically. Aims we aimed to define patient and disease characteristics in a large group of. Pdf anesthesia management of a patient with kearn%u2019s. Kearns sayre syndrome nord national organization for rare. Patients typically present with some combination of weakness, myopathy, ptosis, ophthalmoplegia, retinal pigmentary abnormalities, hearing loss and short stature.
Kearnssayre syndrome, or kss, is a neuromuscular disorder that usually only affects people under the age of 20. More than 150 different mtdna deletions have been associated with kss. Recently, she has been experiencing nausea and headaches and extreme lethargy, making her arms and legs feel like they have weights on them. Marked heterogeneity and various types of inheritance have been observed. Kearnssayre syndrome kss belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. Ataxia diabetes loss of eye movement mild skeletalmuscle weakness heart block hearing loss loss of coordination impaired cognitive function and rarely seizures kearn sayre syndrome kearn sayre syndrome is a condition that affects many. Nerad emphasizes that there are two primary forms of ptosis. In patients with this triad, other neurological deficits may occur with associated abnormalities of the electrocardiogram, electroencephalogram, audiogram, and an elevation of protein. The kearns sayre syndrome is an uncommon neuromuscular condition that affects those below 20 years of age. Ataxia diabetes loss of eye movement mild skeletalmuscle weakness heart block hearing loss loss of coordination impaired cognitive function and rarely seizures kearnsayre syndrome kearnsayre syndrome is a condition that affects many. Kearns sayre syndrome kss a syndrome caused by major rearrangements of, and often large deletions from, the mitochondrial dna.
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. Background kearnssayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958. Mar 27, 2019 kearns sayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. Deletions of mitochondrial dna mtdna, ranging in size from 1. Congenital ptosis is manifested at birth and is associated with poor levator function and absent upper lid crease. An onset of progressive ophthalmoplegia and pigmentary retinopathy before the age of 20, accompanied by cardiac and central nervous system abnormalities, are clinical hallmarks of this disorder. The official parents sourcebook on kearnssayre syndrome. If patients with kearnssayre syndrome commonly are deficient in folate, logic would presume folinic acid therapy may benefit their symptoms. Anesthesia management of a patient with kearn%u2019s sayre. This means that kearnssayre syndrome, or a subtype of kearnssayre syndrome, affects less than 200,000 people in the us population. Mar 11, 2015 if patients with kearnssayre syndrome commonly are deficient in folate, logic would presume folinic acid therapy may benefit their symptoms. Kearnssayer syndrome definition of kearnssayer syndrome. It is also often called an oculocraniosomatic neuromuscular disease with ragged red fibers, and is usually caused by abnormalities that appear in the dna of mitochondria. Anesthesia management of a patient with kearn%u2019s sayre syndrome.
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. The key triad of features includes progressive external ophthalmoplegia, pigmentary retinal dystrophy and onset before 20 years of age. Kearnssayre syndrome information page national institute. The kearnssayre syndrome is an uncommon neuromuscular condition that affects those below 20 years of age. Alexia d m sawyer, russell jones, marcella ucci, lee smith, ade kearns and.
Jul 05, 2019 kearns sayre syndrome kss is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. This disorder is defined by chronic progressive external ophthalmoplegia cpeo, which consists in slowly progressive weakness paresis of the muscles that control the eye movement extraocular muscles along bilateral ptosis dropping eyelid, plus pigmentary retinopathy, a saltandpepper. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for kearnssayre syndrome. One patient had kearnssayre syndrome kss, which is usually a sporadic disorder. We report a case of a 14yearold boy diagnosed and treated as myasthenia gravis for 4 years who was eventually diagnosed with kss. An important clinical symptomatic feature is the presence of droopy eyelids ptosis in one or. It has characteristic syndromal features, which include. 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. Jan 24, 2017 kearns sayre syndrome is one of the mitochondrial encephalomyopathies. 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. Treatment for kearnssayre syndrome is generally symptomatic and supportive. Kearnssayre syndrome by tommy antony mitochondrial dna circular dna encodes for several rnas and proteins mitochondria produces energy for the body what is kearnssayre syndrome mitochondrial encephalomyopathies sporadic mutations heteroplasmy occurs diagnosis eye muscle paralysis pigment accumulation heart disease testing symptoms usually occur before age 20 other symptoms include. Kearns sayre syndrome kss is a rare multisystemic disorder. Cardiac conduction defects may be present or develop over time.
Ppt mitochondrial diseases powerpoint presentation. Dec 17, 2014 treatment for kearns sayre syndrome is generally symptomatic and supportive. Kearns sayre syndrome is caused by defects in mitochondria, which are structures within cells that us oxygen to convert the energy from food into a form that can be used by cells. This disease is mostly characterized by three primary findings. Abstract 7th international congress of human genetics, berlin 1986. Although most dna is packaged in chromosomes within the nucleus nuclear dna, mitochondria also have a small amount of their own dna called mitochondrial dna mtdna. Kearnssayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. Kearns sayre syndrome kss is a form of rare neuromuscular disorder that commonly begins affecting people before they reach the age of twenty. Oct 20, 2008 kearns sayre syndrome kearns sayre syndrome is when the mitochondria in dna becomes abnormal, and does not do its proper fucntions.
The features of kearnssayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. Celebrating prezi s teacher community for teacher appreciation week. This sourcebook has been created for parents who have decided to make education and internetbased research an integral part of the treatment process. Kearnssayre syndrome kss is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years.
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