American journal of ophthalmology, chicago, 1944, 27. The documents contained in this web site are presented for information. Treatment for kearnssayre syndrome is generally symptomatic and supportive. Mri in a case of kearnssayre syndrome confirmed by molecular. We report a case of a 14yearold boy diagnosed and treated as. 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. The following are the proposed treatment for kearnssayre syndrome. This shall depend on the presenting symptom of the syndrome. 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. Kearnssayre syndrome is now known to be associated with basal ganglia hypodensities on ct scans 2. Kearnssayre syndrome is a neurodegenerative disorder due to deletions of mitochondrial dna, which was first described in 1958 by thomas kearns and george sayre. Types of mitochondrial myopathies kearnssayre syndrome kss onset.
Neuropathology in kearnssayre syndrome springerlink. Pronunciation of kearns sayre syndrome with 2 audio pronunciations, 1 meaning, 10 translations and more for kearns sayre syndrome. With a diagnosis of kearns sayre syndrome, it is important to consider whether there is an underlying condition causing kearns sayre syndrome. Marked heterogeneity and various types of inheritance have been observed. Kearnssayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna. Kearns sayre syndrome, leigh syndrome, mitochondrial dna depletion syndrome, progressive external ophthalmoplegia raptor pharmaceuticals inc. People with kearnssayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs. Kearnssayre syndrome bhatnagar kr, gupta d med j dy. Lhon, kearnssayre syndrome kss, myoclonusepilepsylactic acidosisstroke melas, the hepatic form. It has characteristic syndromal features, which include. Jul 05, 2019 kearns sayre syndrome is a rare disorder. Kearnssayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder.
These are other medical conditions that may possibly cause kearnssayre syndrome. Mar 11, 2015 read about how early folinic acid supplementation improves the symptoms of kearns sayre syndrome. Down syndrome also called trisomy 21 is a condition caused by an extra copy of chromosome 21. Few data are reported on imaging in the kearnssayre syndrome kss. The features of kearnssayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. Cardiac conduction defects may be present or develop over time. Kearnssayre syndrome symptoms, diagnosis, treatments and. Taking a look at kearnssayre syndrome at the cellular level, and its connection to cellular respiration.
Main digest kearns sayre syndrome kss is a form of rare neuromuscular disorder that commonly begins affecting people before they reach the age of twenty. Kearnssayre syndrome archives mitochondrial disease news. Kearnssayre syndrome kss belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. Chronic progressive external ophthalmoplegia cpeo kearns sayre syndrome. If you have problems viewing pdf files, download the latest version of adobe. Kearns sayre syndrome nord national organization for rare. A mitochondrial disorder featuring the triad of chronic progressive external ophthalmoplegia, cardiomyopathy cardiomyopathies with conduction block heart block, and retinitis pigmentosa. Early folinic acid supplementation improves symptoms of. If patients with kearnssayre syndrome commonly are deficient in folate, logic would presume folinic acid therapy may benefit their symptoms. A direct cure of the kearns sayre syndrome is not yet made available.
Kearnssayre syndrome an overview sciencedirect topics. The myocardium is spared, but the cardiac conduction system is selectively affected. Kearnssayre syndrome does not affect a particular racial or ethnic group and affects males and females equally. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for kearnssayre syndrome. Two studies have provided congruent information on the prevalence of largescale mitochondrial deletions in the adult population. The classic clinical triad is progressive external ophthalmoplegia, retinitis pigmentosa, and onset before 20 years of age, plus one of the following. Leighs disease, mitoparents talk about finding the right doctor to work with your family. A case report of complete heart block in an uncommon. Few data are reported on imaging in the kearns sayre syndrome kss.
Kearns sayre syndrome belongs to a group of mitochondrial dna deletion syndromes, together with pearson syndrome and progressive external ophthalmoplegia peo. Kearnssayre 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. 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 neuromuscular disorder with onset usually before the age of 20. Patients typically present with some combination of weakness, myopathy, ptosis, ophthalmoplegia, retinal pigmentary abnormalities, hearing loss and short stature. Kearnssayre syndrome kearns syndrome information page. 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. An important clinical symptomatic feature is the presence of droopy eyelids ptosis in one or both eyes. Management of the disease process is the aim in the treatment course for the disease. The kearnssayre syndrome is an uncommon neuromuscular condition that affects those below 20 years of age. People with kearns sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis.
Feb, 2015 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. Kearns sayre syndrome is one of the mitochondrial encephalomyopathies. Insights into brain development, cilium biology, and complex disease dan doherty, md, phd joubert syndrome js is a primarily autosomal recessive condition characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive midhindbrain malformation the molar tooth sign. Williams syndrome ws is a genetic disorder that is present at birth and affects males and females equally. 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. Chronic progressive external ophthalmoplegia cpeo kearns sayre syndrome dr. The ah interval tends to be short, and the infranodal conduction is often impaired figure 1217. These are other medical conditions that may possibly cause kearns sayre syndrome. Williams syndrome is a rare condition, that occurs in 1 in 20,000 births. Kearns 1965 reported 9 unrelated patients with ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy as leading features.
It is a disease with a wide continuum of phenotypes ranging from mild forms of ptosis to multisystemic disorders resulting in early death. The current definition of ws was agreed by the williams syndrome guideline development committee at the williams syndrome management consensus meeting held in manchester in may 2009. Kearnssayre syndrome kss is a mitochondrial myopathy with a typical onset before 20 years of age. 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. Kearnssayre syndrome genetic and rare diseases information. 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 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 causes drooping eyelids ptosis. Kearns sayre syndrome kss is a form of rare neuromuscular disorder that commonly begins affecting people before they reach the age of twenty.
Kearns sayre syndrome nord national organization for. Case and discussion an 18 year old male presented with complaints. Kearnssayre syndrome kss exact prevalence is unknown, but has been estimated at 1125,000. Although most dna is packaged in chromosomes within the nucleus nuclear dna, mitochondria also have a small amount of their own dna called. We present the mri findings in a case of kss confirmed by mitochondrial dna molecular analysis. With a diagnosis of kearnssayre syndrome, it is important to consider whether there is an underlying condition causing kearnssayre syndrome. Clinical presentation the patient often presents with progressive external ophthalmoplegia 1. The condition is generally characterized by a progressive paralysis of the eye muscles, discoloration of the retina, and cardiomyopathy. Nerad emphasizes that there are two primary forms of ptosis. Misdiagnosis of underlying causes of kearnssayre syndrome. Only a small number of cases have been reported in the literature, making this a very rare disorder. Kearns sayre syndrome kss belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. Kearnssayer syndrome kearns syndrome kearnsayre mitochondrial cytopathy kearns syndrome kearnssayreshydaroff syndrome cytopathy, kearnsayre mitochondrial kearn sayre mitochondrial cytopathy. Pdf kearnssayre syndrome kss is a rare neuromuscular disorder.
Case and discussion an 18 year old male presented with complaints of giddiness associated with blurring of vision for one day. Elevated csf protein, sensorineural deafness, seizures, and pyramidal. Kearns sayre syndrome does not affect a particular racial or ethnic group and affects males and females equally. It is a disease with a wide continuum of phenotypes. Dec 02, 2015 taking a look at kearns sayre syndrome at the cellular level, and its connection to cellular respiration. Ragged red muscle fibers that seem to contain an excess of altered mitochondria are observed. 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. The clinical assessment and management of children, 3 young people and adults with down syndrome part i.
It is characterized by the triad of progressive external ophthalmoparesis, con duction heart block, and atypical pigmentary degenera. This disease is mostly characterized by three primary findings. Elevated csf protein, sensorineural deafness, seizures, and pyramidal signs may also be present. 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. Williams syndrome occurs in approximately l20,000 births. Pdf background kearnssayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958. Kearns sayre syndrome kss is a rare neuromuscular disorder characterized by external ophthalmoplegia and pigmentary retinopathy before the age 20 years. The features of kearns sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. The three classic phenotypes caused by mtdna deletions are kearnssayre syndrome. Less consistent features were weakness of facial, pharyngeal, trunk and extremity muscles, deafness, small stature.
Classical triad of kearnssayre syndrome bmj case reports. A novel mitochondrial dna deletion in a chinese girl with kearns. Kearnssayre syndrome with reduced plasma and cerebrospinal fluid folate. The neuropathological changes found at autopsy in a case of kearnssayre syndrome are described. Mri may prove useful in detection and delineation of this disease. 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. 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. More detailed information about the symptoms, causes, and treatments of kearns sayre syndrome is available below. 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. In this article we report a case of complete heart block av nodal in patient of kearns sayre syndrome who has incidently sa node disease also which is further rarer in this disorder. If patients with kearns sayre syndrome commonly are deficient in folate, logic would presume folinic acid therapy may benefit their symptoms.
Kearnssayre syndrome, leigh syndrome, mitochondrial dna depletion syndrome, progressive external ophthalmoplegia raptor pharmaceuticals inc. This syndrome has also been designated as the kearns sayre daroff syndrome, because daroff was the first to describe the cerebral spongiform state. Kearnssayre syndrome kss is a rare mitochondrial genetic disorder with multisystem involvement. A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some.
Kearnssayre syndrome bhatnagar kr, gupta d med j dy patil univ. Kearnssayre syndrome kss was first described in 1958 as a rare neuromuscular disorder defined by a characteristic triad of. Kearns sayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20. Kearns sayre syndrome is a condition that affects many parts of the body, especially the eyes. As a net effect the duration of the pr interval may remain normal or may. Kearns sayre syndrome is now known to be associated with basal ganglia hypodensities on ct scans 2, 3. Main digest kearnssayre syndrome kss is a form of rare neuromuscular disorder that commonly begins affecting people before they reach the age of twenty. May 12, 2020 plays an essential role in the assembly of succinate dehydrogenase sdh, an enzyme complex also referred to as respiratory complex ii that is a component of both the tricarboxylic acid tca cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone coenzyme q to ubiquinol pubmed. Enable javascript to view the expandcollapse boxes. 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. Ophthalmoplegia, chronic progressive external mitochondrial myopathies muscular diseases musculoskeletal diseases retinitis pigmentosa eye diseases cardiomyopathies heart diseases cardiovascular diseases.
Kearnssayre syndrome kss is a form of rare neuromuscular disorder that commonly begins affecting people before they reach the age of twenty. Kearnssayre syndrome kss is a mitochondrial disorder consisting of external ophthalmoplegia, retinitis pigmentosa, ataxia and heart block. The original characterisation as presented by kearns in 1958 comprised three core findings. A case report of complete heart block in an uncommon disease. A neuromuscular disorder characterized by three primary findings. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal fluid csf protein content, proximal myopathy, short stature, and. This syndrome has also been designated as the kearnssayredaroff syndrome, because daroff was the first to describe the cerebral spongiform state. Mitochondrial dna mtdna deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex i. Mri in a case of kearnssayre syndrome confirmed by.
Kearnssayre syndrome is a rare disease entity caused by mutations in the mitochondrial dna and the patients may have reduced visual activity, hearing loss, dysphagia, ophthalmoplegia and ptosis. Progressive paralysis of certain eye muscles chronic progressive external ophthalmoplegia, or cpeo. A direct cure of the kearnssayre syndrome is not yet made available. 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. 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 rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles. Jan 10, 2012 kearns sayre syndrome is form of rare mitochondrial cytopathy, first described by thomas p. Request pdf severe hypomagnesemia and hypoparathyroidism in kearns sayre syndrome kearns sayre syndrome kss is a multisystem mitochondrial disorder characterized by the invariant triad. The disease often presents in childhood with the hallmark ocular symptoms of ptosis. Kearnssayre syndrome is form of rare mitochondrial cytopathy, first described by thomas p. Kearnssayre syndrome kss is a rare mitochondrial disorder with multisystem involvement affecting the eye, muscle, heart, endocrine, peripheral and central. Kearns sayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years.
Does kearns sayre syndrome affect any one specifically. Kearnssayre syndrome symptoms, treatment, causes, prognosis. Kearnssayre syndrome is a condition that affects many parts of the body, especially the eyes. Normally, we have 23 pairs of chromosomes for a total of 46. Kearnssayre syndrome kss is a rare neuromuscular disorder characterized by external ophthalmoplegia and pigmentary retinopathy before the age 20 years. It has been identified in individuals in countries all over the world. Severe hypomagnesemia and hypoparathyroidism in kearns. Congenital ptosis is manifested at birth and is associated with poor levator function and absent upper lid crease. Plays an essential role in the assembly of succinate dehydrogenase sdh, an enzyme complex also referred to as respiratory complex ii that is a component of both the tricarboxylic acid tca cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone coenzyme q to ubiquinol pubmed. Kearnssayre syndrome is an uncommon mitochondrial myopathy associated with progressive external ophthalmoplegia and pigmentary retinopathy. The clinical assessment and management of children, young. Kearns sayre syndrome kearns syndrome information page with honselect services. The following are the proposed treatment for kearns sayre syndrome.
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