Elevated csf protein, sensorineural deafness, seizures, and pyramidal. Clinical presentation the patient often presents with progressive external ophthalmoplegia 1. Initially presented to the osh er with 3 weeks of worsening generalized weakness, fatigue, and gait imbalance. We report a patient with kss who underwent emergency surgery under general anesthesia uneventfully, but who developed respiratory depression and. Furthermore, signs and symptoms of kearnssayre syndrome may vary on an individual basis for each patient.
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. Background kearnssayre syndrome kss is a rare mitochondrial cytopathy, first described at mayo clinic in 1958. Aims we aimed to define patient and disease characteristics in a large group of. Administration of 120 to 150 mgd of coq improved abnormal metabolism of pyruvate. A 48yearold man presented with a complex phenotype of myoclonus epilepsy with raggedred fibers merrf syndrome and kearnssayre syndrome kss. Kearnssayre syndrome kearns syndrome information page. 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. Kearnssayre syndrome kss is a rare neuromuscular disorder. Kearnssayre syndrome is an incurable condition and symptomatic and supportive treatment is provided.
Kearns sayre syndrome kss a rare cause for cardiac pacing article pdf available in indian pacing and electrophysiology journal 1012. The disease often presents in childhood with the hallmark ocular symptoms of ptosis. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for kearnssayre syndrome. Kss is a more severe syndromic variant of chronic progressive external ophthalmoplegia abbreviated cpeo, a syndrome that is characterized by isolated. Kearnssayre syndrome kss is a rare neuromuscular disease progressing to chronic external ophthalmoplegia, atypical retinitis pigmentosa, and pigmentary degeneration of the retina. Kearnssayre syndrome, first described by kearns and sayre in 1958, is a rare disorder consisting of ptosis, limited movement of both eyes and atypical retinal pigmentary change saltpepper like. However, this condition was recognized as a syndrome only in 1965 and was renamed as kearnssayre syndrome kss. 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.
Despite some peculiarities of the phenotype, the presentation at onset was mild and the further course uneventful. Kearnssayre syndrome kss exact prevalence is unknown, but has been estimated at 1125,000. 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. Kearnssayre syndrome an overview sciencedirect topics. Developed by renowned radiologists in each specialty, statdx provides comprehensive decision support you can rely on kearnssayre syndrome.
Rare health conditions are those that affect no more and usually less than 1 person in every 2000 and many hcas and nurses will encounter some of these conditions given the high number of these conditions. Enable javascript to view the expandcollapse boxes. In chous electrocardiography in clinical practice sixth edition, 2008. Kearnssayre syndrome genetic and rare diseases information. Kearns 1965 reported 9 unrelated patients with ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy as leading features.
The patient, on further examination, showed ophthalmoplegia, bilateral ptosis figure 2 and pigmentary retinopathy figure 3. For language access assistance, contact the ncats public information officer. Sayre syndrome diagnosed 5 years ago who was transferred from osh with cardiogenic shock on multiple pressor support and balloon pump here for advanced care. 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. Treatment of kearnssayre syndrome with coenzyme q10. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal. 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. Kearnssayre syndrome kss is a rare mitochondrial myopathy characterized by external ophthalmoplegia, pigmentary retinopathy, cerebellar ataxia and heart block. Request pdf severe hypomagnesemia and hypoparathyroidism in kearns sayre syndrome kearns sayre syndrome kss is a multisystem mitochondrial disorder characterized by the invariant triad. Kearns sayre syndrome belongs to a group of mitochondrial dna deletion syndromes, together with pearson syndrome and progressive external ophthalmoplegia peo.
Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. A revised and updated directory for the internet age icon. The official parents sourcebook on kearnssayre syndrome. Kearns sayre syndrome kss is a rare mitochondrial myopathy caused by deletion of mitochondrial dna. A direct cure of the kearnssayre syndrome is not yet made available.
A mitochondrial disorder featuring the triad of chronic progressive external ophthalmoplegia, cardiomyopathy cardiomyopathies with conduction block heart block, and retinitis pigmentosa. This disease is mostly characterized by three primary findings. Cardiac involvement in kearnssayre syndrome revista espanola. The paper describes kearnssayres syndrome, a rare hereditary neuromuscular disease, in a patient aged 17 years. Links to pubmed are also available for selected references. Ros also positive for generalized feverchills, cough.
Kearnssayre syndrome kss is a mitochondrial myopathy with a typical onset before 20 years of age. The goals of this research are to increase understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them. The ninds supports research on neuromuscular disorders such as kss. Kearns sayre syndrome kss is a rare neuromuscular disorder. Kearnssayre syndrome kss is a mitochondrial cytopathy that was first. The clinical picture of the disease had a classical triad. Evidencebased information on kearns sayre syndrome from hundreds of trustworthy sources for health and social care. Ataxia, ophthalmoplegia, retinitis pigmentosa, increased cerebrospinal fluid csf protein.
If you have problems viewing pdf files, download the latest version of adobe reader. Severe hypomagnesemia and hypoparathyroidism in kearns. Kearnssayre syndrome is now known to be associated with basal ganglia hypodensities on ct scans 2. This is an alphabeticallysorted list of medical syndromes. Eye symptoms include progressive external ophthalmoplegia, weakness or paralysis of the eye muscles that impairs eye. This signs and symptoms information for kearnssayre syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of kearnssayre syndrome signs or kearnssayre syndrome symptoms. 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.
Management of the disease process is the aim in the treatment course for the disease. Diagnose kearnssayre syndrome genetically and investigate. Kearnssayre syndrome kss, also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder. Kearns sayre syndrome nord national organization for rare. Kearnssayre syndrome is a rare genetic disorder caused by problems with the mitochondria, a component found in all the cells of the body. Full text full text is available as a scanned copy of the original print version. Click here to download free android application for this journal case report kearns sayre syndrome. Hearing deficit, endocrinologic dysfunction, and conductive heart block. Kearnssayre syndrome kss new york clients tests displaying the status new york approved. 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. Anesthetic management for a patient with kearnssayre syndrome. The neuropathological examination revealed prominent neuronal degeneration and gliosis of the basal.
Kearnssayre syndrome kss is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. Neuropathology in kearnssayre syndrome springerlink. Kearnssayre syndrome handbook of pediatric anesthesia. We describe the images of a 27yearold man presenting with recurrent syncope due to complete heart block figure 1. Click export csv or ris to download the entire page or use the checkboxes to select a subset of records to download. Kearnssayre 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. We report a case of a 14yearold boy diagnosed and treated as myasthenia gravis for 4 years who was eventually diagnosed with kss. 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 of the muscles controlling movement of the eyelid levator palpebrae, orbicularis oculi and eye extraocular muscles. Kearnssayre syndrome kss kss is a slowly progressive mitochondrial disorder with onset before age 20 years.
Cpeo affects the muscles that control eyelid movement and eye movement. Kearnssayre syndrome is a rare mitochondrial disease which usually occurs sporadically with the presence of ptosis and the clinical triad of chronic progressive external ophthalmoplegia, atypical retinitis pigmentosa and cardiac conduction disorders. We studied the metabolism of coenzyme q10 coq and the effects of coq therapy in five patients with kearnssayre syndrome kss. Coq synthesis was normal in fibroblasts from kss patients. Kearnssayre syndrome kss has hallmark symptoms in the eyes and throughout the body typically beginning before age 20 and correlates with specific nuclear dna mutations that cause problems with many of the organs and tissues in the body. 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. Guide to the symptoms of kearnssayre syndrome healthprep. Merrf and kearnssayre overlap syndrome due to the mtdna m. Around 50% of patients develop conductive abnormalities that can ultimately lead to a complete atrioventricular block or bradycardiarelated polymorphic ventricular tachycardia. 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. Classical triad of kearnssayre syndrome bmj case reports.
Ghani department of ophthalmology, queen elizabeth hospital, kota kinabalu, 88586 malaysia. First discovered in 1958, scientists estimate the syndrome occurs at a rate of 1. This mitochondrial disorder is characterized by the triad of onset beforeage 20, chronic progressive external ophthalmoplegia, and pigmentary retinopathy. Although the mitochondrial fraction was increased in muscles from kss patients, coq content was slightly low. Less consistent features were weakness of facial, pharyngeal, trunk and extremity muscles, deafness, small stature. Kearnssayre syndrome kss is a rare neuromuscular disorder with onset usually before the age of 20 years. Kearns sayre syndrome an overview sciencedirect topics. Kearns sayre syndrome, first described by kearns and sayre in 1958, is a rare disorder consisting of ptosis, limited movement of both eyes and atypical retinal pigmentary change saltpepper like. However, since it is a progressive disorder, the prognosis of kss is generally poor. Kearnssayre syndrome symptoms, treatment, causes, prognosis. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. Say syndrome genetic and rare diseases information. Kearnssayre syndrome bhatnagar kr, gupta d med j dy patil univ. Kearnssayre syndrome is an uncommon mitochondrial myopathy associated with progressive external ophthalmoplegia and pigmentary retinopathy.
This shall depend on the presenting symptom of the syndrome. The purpose of this series is to briefly highlight a range of rare health conditions. It is a disease with a wide continuum of phenotypes ranging from mild forms of ptosis to multisystemic disorders resulting in early death. Sayre syndrome, annals of neurology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Kearnssayre syndrome abbreviated kss also known as oculocraniosomatic disease or oculocraniosomatic neuromuscular disease with ragged red fibers is a mitochondrial myopathy with a typical onset before 20 years of age. The original characterisation as presented by kearns in 1958 comprised three core findings. The following are the proposed treatment for kearnssayre syndrome. Kearnssayre syndrome kss is a rare mitochondrial genetic disorder with multisystem involvement. Kearnssayre syndrome kss, oculocraniosomatic disorder or oculocranionsomatic.