In patients with this triad, other neurological deficits may occur with associated abnormalities of the electrocardiogram, electroencephalogram, audiogram, and an elevation of protein. The sequence of manifestations is not constant, but the signs and symptoms in themselves are consistent. The official parents sourcebook on kearns sayre syndrome. Kearnssayre syndrome presenting as isolated growth failure. Aims we aimed to define patient and disease characteristics in a large group of. Kearns sayre syndrome, leigh syndrome, mitochondrial dna depletion syndrome, progressive external ophthalmoplegia raptor pharmaceuticals inc. Congenital ptosis is manifested at birth and is associated with poor levator function and absent upper lid crease. We have previously analyzed the respiratory chain function in isolated muscle mitochondria and also described a large deletion of muscle mitochondrial dna mtdna in this case. Kearns sayre syndrome kss is a form of rare neuromuscular disorder that commonly begins affecting people before they reach the age of twenty. Chronic progressive external ophthalmoplegia cpeo kearns sayre syndrome dr. The disease often presents in childhood with the hallmark ocular symptoms of ptosis. Unusualphenotypeanddiseasetrajectoryin kearnssayresyndrome. Induction was achieved with propofol and fentanyl, and general anaesthesia was maintained with.
Kearns sayre syndrome kss is a rare neuromuscular disorder characterized by external ophthalmoplegia and pigmentary retinopathy before the age 20 years. Kearnssayre syndrome kss is a mitochondrial cytopathy that was first described in 1958. Pdf a case of kearnssayre syndrome the importance of. A team from spain tested this theory in the article followup of folinic acid supplementation for patients with cerebral folate deficiency and. The official parents sourcebook on kearnssayre syndrome. Kearnssayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958.
Kearns sayre syndrome kss a rare cause for cardiac. Cpeo affects the muscles that control eyelid movement and eye movement. Classified as a mitochondrial cytopathy, the primary pathology of this syndrome is a disturbance of mitochondrial dna, which codes for the proteins required for the respiratory chain reaction. Apr 21, 2020 kearns sayre syndrome, or kss, is a neuromuscular disorder that usually only affects people under the age of 20. Kearns sayre syndrome kss, also known as oculocraniosomatic neuromuscular disease, is a rare mitochondrial myopathy that is characterized by chronic progressive external ophthalmoplegia cpeo, retinitis pigmentosa, and cardiac conduction abnormalities. This sourcebook has been created for parents who have decided to make education and internetbased research an integral part of the treatment process. In this paper, we reported 19 kearnssayre syndrome kss patients whose diagnoses were in accordance with the current clinical diagnostic criteria of kss, i. Kearnssayre syndrome handbook of pediatric anesthesia. Kearnssayre syndrome and parkinsons disease are considered unrelated. Cardiac conduction defects may be present or develop over time. We report a case of a 14yearold boy diagnosed and treated as myasthenia gravis for 4 years who was eventually diagnosed with kss. Kearns sayre syndrome does not affect a particular racial or ethnic group and affects males and females equally.
Kearnssayre syndrome kss is a variety of mitochondrial disease characterized by progressive external ophthalmoplegia peo, pigmentary retinitis and an. Furthermore, signs and symptoms of kearns sayre syndrome may vary on an individual basis for each patient. This involves cardiac conduction disorders with varying degrees of severity. The key triad of features includes progressive external ophthalmoplegia, pigmentary retinal dystrophy and onset before 20 years of age. Renal and skin involvement in a patient with complete kearns. 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. Jan 24, 2017 kearns sayre syndrome is one of the mitochondrial encephalomyopathies. The neuropathological examination revealed prominent neuronal degeneration and gliosis of the basal ganglia and there were. In some cases it has been shown to be inherited through mitochondrial, autosomal dominant, or autosomal recessive inheritance. 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. This disease is mostly characterized by three primary findings. 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. The classic clinical triad is progressive external ophthalmoplegia, retinitis pigmentosa, and onset before 20 years of age, plus one of the following. The kearns sayre syndrome is a mitochondrial disorder generally due to mitochondrial dna deletions that causes ophthalmoplegia, retinopathy, ataxia and brain abnormalities such as leukoencephalopathy.
In 1958, kearns and sayre wrote a report of two cases of a syndrome characterized by external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction disorders. Neuropathology in kearnssayre syndrome springerlink. Kearns sayre syndrome the kearns sayre syndrome kss is a mitochondriopathies characterized by multiorgan dysfunction that typically develops before the age of twenty. However, this condition was recognized as a syndrome only in 1965 and was renamed as kearns sayre syndrome kss. Kearnssayre syndrome kss is a mitochondrial myopathy with a typical onset before 20 years of age. These defects cause the brain and muscles to function abnormally encephalomyopathy. People with kearns sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis. It is a disease with a wide continuum of phenotypes ranging from mild forms of ptosis to multisystemic disorders resulting in early death. Management of the disease process is the aim in the treatment course for the disease. The following are the proposed treatment for kearns sayre syndrome.
Kearnssayer syndrome kearns syndrome kearnsayre mitochondrial cytopathy kearns syndrome kearnssayreshydaroff syndrome cytopathy, kearnsayre mitochondrial kearn sayre mitochondrial cytopathy. The neuropathological changes found at autopsy in a case of kearns sayre syndrome are described. Kearns sayre syndrome kss is a rare neuromuscular disorder. Kearns sayre 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. Sayre syndrome and chronic progressive external ophthalmoplegia. Sayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958. Kearns sayre syndrome kss is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. 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. To gain further insight into the pathogenesis of cerebellar dysfunction in kss, antibodies against synaptophysin sy were used to identify presynaptic terminals and antibodies to calbindin d cb to identify purkinje cells in the cerebellar cortex and in the dentate nucleus from. Apr 04, 2008 my little brother was just diagnosed with kearn sayre syndrome which is a genetic mitochondrial disease.
Kearns sayre syndrome is a rare condition characterized by the triad of external ophthalmoplegia, pigmentary retinopathy and progressive degeneration of cardiac conduction system. 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. We report a patient with kss who underwent emergency surgery under general anesthesia uneventfully, but who developed respiratory depression and. Sayre syndrome kss patients whose diagnoses were in accordance with the current clinical. Dec 15, 2015 leighs disease, mitoparents talk about finding the right doctor to work with your family. 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. Kearns sayre syndrome kss is a rare multisystemic disorder. Kearns sayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna. We appreciate the readers interest and their comprehensive comments and advice about the article, 1 which mainly concerned details of the patients information. Kearns sayre syndrome kss is a sporadic multisystem disorder due to rearrangements in mitochondrial dna mtdna. These disorders are due to defects in the dna of the mitochondria, the cell structures that produce energy. Diagnosis and management of kearnssayre syndrome rely on.
Kearnssayre syndrome bhatnagar kr, gupta d med j dy. Kearnssayre syndrome symptoms, diagnosis and treatment options. He is currently experiencing the opthalmaplegia, retinal pigmentation, has had muscle wasting since he was a preteen, and has an abnormal ekg. Kearnssayre syndrome an overview sciencedirect topics. This syndrome has also been designated as the kearns sayre daroff syndrome, because daroff was the first to describe the cerebral spongiform state. Mullie ma, harding ae, petty rk 1985 the retinal manifestations of mitochondrial myopathy. Cardiac involvement in kearnssayre syndrome revista espanola. Mar 11, 2015 if patients with kearns sayre syndrome commonly are deficient in folate, logic would presume folinic acid therapy may benefit their symptoms. It is a disease with a wide continuum of phenotypes. We aimed to define patient and disease characteristics in. Kearns sayre syndrome kss is a mitochondrial cytopathy that was first. Kearnssayre syndrome symptoms, treatment, causes, prognosis. An important clinical symptomatic feature is the presence of droopy eyelids ptosis in one or both eyes. Kearns sayre syndrome nord national organization for rare.
Disconnection of cerebellar purkinje cells in kearnssayre. The features of kearns sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. Gobu p, karthikeyan b, arun prasath, santosh s, balachander j. 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. Early folinic acid supplementation improves symptoms of. A form of chronic progressive external ophthalmoplegia with associated cardiac conduction defects, short stature, and hearing loss.
Kearns sayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958. 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. General anaesthesia for laparoscopic cholecystectomy in a. This signs and symptoms information for kearns sayre syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of kearns sayre syndrome signs or kearns sayre syndrome symptoms. An antiinflammatory diet plan diabetes smart tips living well with rheumatoid arthritis living well with colitis or crohns manage your childs adhd mood, stress and mental health talking to your doctor about hepatitis c talking to your doctor about psoriasis talking to your doctor about rheumatoid arthritis your guide to diabetes management your guide to managing depression. Kearns 1965 reported 9 unrelated patients with ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy as leading features. A case of kearns sayre syndrome the importance of enzyme staining for the diagnosis of childhood mitochondrial diseases. Apr 28, 2015 kearnsasayre syndrome also known as oculocraniosomatic disorder or oculocraniosomatic neuromuscular disorder with ragged red fibers is a mitochondrial myopathy with a typical onset before. The diagnostic criteria most widely accepted in the literature are a triad. Treatment for kearns sayre syndrome is generally symptomatic and supportive. Mitochondrial dna mtdna deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex i.
Kearnssayre syndrome genetic and rare diseases information. Pdf diagnosis and management of kearnssayre syndrome. Kearnssayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna. With a diagnosis of kearns sayre syndrome, it is important to consider whether there is an underlying condition causing kearns sayre syndrome. Feb 18, 20 disorders of energy metabolism are a class of diseases in which affected individuals frequently exhibit poor growth. Enable javascript to view the expandcollapse boxes. Background kearnssayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958. Misdiagnosis of underlying causes of kearnssayre syndrome.
The mitochondrial encephalomyopathies caused by a disorder in the mitochondrial dna structure are rare multisystem disease. Kearns sayre syndrome kss is a rare, sporadic disorder that affects males and females equally. The syndrome of a slowly progressive external ophthalmoplegia, pigment retinopathy, and disorder of cardiac conduction was described by kearns and sayre in 1958. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal fluid csf protein content, proximal myopathy, short stature, and. Kearnssayre syndrome kss exact prevalence is unknown, but has been estimated at 1125,000. The original characterisation as presented by kearns in 1958 comprised three core findings. Main digest 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. Anesthetic management for a patient with kearnssayre syndrome. Cardiac manifestations occur in 57% of patients with kearns sayre syndrome which also include syncopal attacks, heart failure and cardiac arrest. Kearns sayre syndrome is a condition that affects many parts of the body, especially the eyes. Kearnssayre syndrome archives mitochondrial disease news. A direct cure of the kearns sayre syndrome is not yet made available.
Clinical presentation the patient often presents with progressive external ophthalmoplegia 1. These are other medical conditions that may possibly cause kearns sayre syndrome. Classical triad of kearnssayre syndrome bmj case reports. Kearnsayre syndrome kss rare diseases and genetic disorders. This is a temporary file and hence do not link it from a website, instead link the url of this page if you wish to link the pdf file.
However, some studies suggest that mitochondrial mutations may be implicated in the development of parkinson and, as is well known, kearnssayre syndrome is a mitochondrial disease, so there may be some link, although it has never been investigated. This shall depend on the presenting symptom of the syndrome. Jul 05, 2019 kearns sayre syndrome is a rare disorder. Pigmentary retinopathy in kearnssayre syndrome bmj case. Finsterer, kearns sayre syndrome, handbookofmito chondrialdysfunction,taylorandfrancisgroup,bocaraton, fl,usa,2019. We report a case of a 40yearold man affected by the kearns sayre syndrome who underwent an elective laparoscopic cholecystectomy under general anaesthesia. Marked heterogeneity and various types of inheritance have been observed. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal fluid csf protein content, and proximal myopathy. Kearns sayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder. Pdf choroid plexus failure in the kearnssayre syndrome. Kearns sayre syndrome kss a rare cause for cardiac pacing article pdf available in indian pacing and electrophysiology journal 1012. Does kearns sayre syndrome affect any one specifically. Two studies have provided congruent information on the prevalence of largescale mitochondrial deletions in the adult population.
Only a small number of cases have been reported in the literature, making this a very rare disorder. Cardiac involvement is reported in approximately 50% of cases. Patients typically present with some combination of weakness, myopathy, ptosis, ophthalmoplegia, retinal pigmentary abnormalities, hearing loss and short stature. 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. A revised and updated directory for the internet age icon health publications on. We describe the management of general anaesthesia in this rare myopathy, with emphasis on the use of rocuronium as muscle blocking agent. Nerad emphasizes that there are two primary forms of ptosis. Case report kearns sayre syndrome kss indian pacing and.
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