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