Ragged red muscle fibers that seem to contain an excess of altered mitochondria are observed. A novel mitochondrial dna deletion in a chinese girl with kearns. Kearnssayre syndrome symptoms, diagnosis, treatments and. Kearns sayre syndrome is a rare condition characterized by the triad of external ophthalmoplegia, pigmentary retinopathy and progressive degeneration of cardiac conduction system. Sayre syndrome klinefelter syndrome feigenbaum syndrome friedreich ataxia melas syndrome myotonic dystrophy i narcolepsy thiamine responsive megaloblastic anemia syndrome. Kearnssayre syndrome archives mitochondrial disease news. Merrf myoclonic epilepsy and ragged red fibers mmc maternally inherited myopathy and cardiomyopathy.
Early folinic acid supplementation improves symptoms of. A neuromuscular disorder characterized by three primary findings. Kearnssayre syndrome symptoms, treatment, causes, prognosis. Kss is manifested also by other systemic abnormalities. Symptoms appear when the proportion of mutant dna is high, being. Disorders of energy metabolism are a class of diseases in which affected individuals frequently exhibit poor growth. Congenital ptosis is manifested at birth and is associated with poor levator function and absent upper lid crease. Pick disease werner syndrome wolfram syndrome woodhouse. People with kearnssayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs.
Kearnssayre syndrome kss leigh syndrome mitochondrial dna depletion syndrome mds. The official parents sourcebook on kearnssayre syndrome by icon health publications english 16 sept. It is a disease with a wide continuum of phenotypes. In 1958, kearns and sayre were the first to report two cases having the triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block. The clinical and postmortem findings in a 26 year old man with kearnssayre syndrome are described. Kearns 1965 reported 9 unrelated patients with ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy as leading features. Kearnssayre syndrome genetic and rare diseases information. Clinical manifestations of kearnssayre syndrome in 1958 kearns and sayre first described a specific multisystem disorder consisting of chronic progressive external ophthalmoplegia, retinitis pigmentosa and atrioventricular heart block 9. The original characterisation as presented by kearns in 1958 comprised three core findings.
This is a list of syndromes and conditions that may cause a combined vision and hearing loss. Kearnssayre syndrome kss is a mitochondrial dna deletion syndrome that presents with profound cerebral folate deficiency and other features. The kearnssayre syndrome is an uncommon neuromuscular condition that affects those below 20 years of age. Our aim was to assess the clinical and neuroimaging outcomes of kss patients receiving folinic acid therapy. For language access assistance, contact the ncats public information officer. 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. Abstract the kearns sayre syndrome is a neuromyopathic disorder associated with mitochondrial abnormalities and characterized by the triad of chronic external ophthalmoplegia, atypical pigmentary retinopathy, and progressive conduction system disorders. Kearnssayre syndrome kss exact prevalence is unknown, but has been estimated at 1125,000.
Progressive external ophthalmoplegia genetics home. Kearnssayre syndrome is a condition that affects many parts of the body, especially the eyes. The official parents sourcebook on kearnssayre syndrome. Only a small number of cases have been reported in the literature, making this a very rare disorder. 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. Pdf kearnssayre syndrome kss is a rare neuromuscular disorder.
Patients typically present with some combination of weakness, myopathy, ptosis, ophthalmoplegia, retinal pigmentary abnormalities, hearing loss and short stature. Kearnssayre syndrome is now known to be associated with basal ganglia hypodensities on ct scans 2. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. 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. 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.
Fatal mitochondrial cardiomyopathy in kearnssayre syndrome. In the last years of his life he suffered from cardiac. Less consistent features were weakness of facial, pharyngeal, trunk and extremity muscles, deafness, small stature. Leighs disease, mitoparents talk about finding the right doctor to work with your family. This means that kearnssayre syndrome, or a subtype of kearnssayre syndrome, affects less than 200,000 people in the us population. The diagnosis of kss is made based on the classic triad of symptoms. It is a disease with a wide continuum of phenotypes ranging from mild forms of ptosis to multisystemic disorders resulting in early death.
Preliminary data support the notion that folinic acid therapy might be useful in the treatment of kss patients. Kearnssayre syndrome kss is a form of rare neuromuscular disorder that commonly begins affecting people before they reach the age of twenty. The clinical diagnosis and molecular genetics of kearns. Other common symptoms include cardiomyopathy, conduction block a type of cardiac arrhythmia, ataxia, short stature, neuropathy, and deafness. Kearnssayre 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.
Hence it is also known as kearnssayredaroff syndrome. Kearnssayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder. Case report kearns sayre syndrome kss a rare cause for. Kearnssayre syndrome mitochondrial pigmentary retinopathysalt and pepper appearance to retina, or back of eye symptoms usually appear before the age of 20 heart rhythm abnormalities progressive external ophthalmoplegia drooping of eyelids and paralysis of eye muscles. Kearnssayre syndrome kss is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. Kearnssayre syndrome kss is a rare mitochondrial disorder with multisystem involvement affecting. The documents contained in this web site are presented for information.
Pdf on mar 1, 2014, syed shoeb ahmad and others published kearnssayre syndrome find, read and cite all the research you need on researchgate. Kearnssayre syndrome does not affect a particular racial or ethnic group and affects males and females equally. Enable javascript to view the expandcollapse boxes. Cardiac involvement is reported in approximately 50% of cases. If you have problems viewing pdf files, download the latest version of adobe. Kearnssayre syndrome presenting as isolated growth failure. Kearnssayre syndrome, leigh syndrome, mitochondrial dna depletion syndrome, progressive external ophthalmoplegia raptor pharmaceuticals inc. 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 kss is a rare metabolic disorder which belongs to the group of mitochondrial cytopathies.
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. 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 rare neuromuscular disorder with onset usually before the age of 20 years. 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. Gradual loss of vision, hearing and increasing heart problems. Progressive paralysis of certain eye muscles chronic progressive external ophthalmoplegia, or cpeo. Kearnssayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna.
The features of kearnssayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. The rgh treatment was then discontinued at a final height of 163 cm. Kearnssayre syndrome kss is a multisystem disorder caused by a. Clinical presentation the patient often presents with progressive external ophthalmoplegia 1. A novel mitochondrial dna deletion in a patient with kearnssayre. The disease often presents in childhood with the hallmark ocular symptoms of ptosis. Kearnssayre syndrome kss is a rare neuromuscular disorder. The condition is generally characterized by a progressive paralysis of the eye muscles, discoloration of the retina, and cardiomyopathy. Marked heterogeneity and various types of inheritance have been observed. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Kearnssayre syndrome is caused by large deletions of mitochondrial dna table 51. Does kearns sayre syndrome affect any one specifically. 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. This involves cardiac conduction disorders with varying degrees of severity.
Kearnssayre syndrome is a rare neuromuscular disorder characterized by three primary findings. Although most dna is packaged in chromosomes within the nucleus nuclear dna, mitochondria also have a small amount of their own dna called. It is a rare syndrome characterized by the triad of progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction system disturbances 2. 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. The key triad of features includes progressive external ophthalmoplegia, pigmentary retinal dystrophy and onset before 20 years of age. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal fluid csf protein content, and proximal myopathy. A revised and updated directory for the internet age icon health publications on. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for kearnssayre syndrome. Despite its rare occurrence, significant progress has been made since then in delineating the natural. Chronic progressive external ophthalmoplegia cpeo kearns sayre syndrome. Followup of folinic acid supplementation for patients. The cerebral spongiform state found in this syndrome was later described by daroff. Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles.
Rare diseases rare diseases are often defined as present in less than 12000 people 7000 rare diseases are identified and more are found each year most rare diseases are new mutations, not transmitted genetically up to 10% of all patients may have a rare disease. As ptosis worsens, affected individuals may use the forehead muscles. A case series of 35 adults and children article pdf available in international journal of general medicine 7default. If patients with kearnssayre syndrome commonly are deficient in folate, logic would presume folinic acid therapy may benefit their symptoms. People with kearnssayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and. Keep in mind, the majority of causes of deafblindness are still unknown. A report on a rare case of kearns sayrelike syndrome. A novel mitochondrial dna deletion in a patient with. Prof yogesh gupata b6, medical colony, aligarh up 202002, india. The kearns sayre syndrome is an uncommon neuromuscular condition that affects those below 20 years of age. If you have problems viewing pdf files, download the latest version of adobe reader. Kelly, fops on oct 5, 2012 rating 1 rating appears in miscellaneous conditionkeywords kearnssayre syndrome, heartblock, chronic progressive ophthalmoplegia, ptosis, bilateral pigmentary retinopathy, cardiac conduction abnormalities.
Cardiac manifestations occur in 57% of patients with kearns sayre syndrome which also include syncopal attacks, heart failure and cardiac arrest. Abnormal accumulation of colored pigmented material on the retina atypical retinitis pigmentosa, leading to chronic inflammation and progressive degeneration of the retina. Kearns sayre syndrome is a mitochondrial myopathy with onset before the age of 20 years 1. Sakatisyndrome glut i deficiency familiar hyperinsulinism kearns. The first sign of progressive external ophthalmoplegia is typically drooping eyelids ptosis, which can affect one or both eyelids. Nerad emphasizes that there are two primary forms of ptosis. Kearns sayre syndrome kss a rare cause for cardiac pacing. Peo and pigmentary retinopathy, a saltandpepper pigmentation in the retina that can affect vision.
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