41. University Of Iowa EyeRounds.org Those who are “splitters” would say that he has kearnssayre syndrome, a subset of CPEO Ophthalmoplegia-plus or kearns-sayre syndrome? Ann Neurol. http://webeye.ophth.uiowa.edu/eyeforum/case24.htm

Patient Info Genetic Tests About Us Contact Us ... Macular Degeneration Chronic Progressive External Ophthalmoplegia (CPEO) - Kearns-Sayre Syndrome: 12 y.o. boy with painless, progressive ptosis OU over 3 years. Presented by Sudeep Pramanik , MBA, MD Faculty: Jeffrey Nerad, MD Edited by Andrew Doan, M.D., Ph.D., Thomas Oetting, M.D., and Thomas Weingeist, M.D., Ph.D. CC: 12 y.o. boy with gradual progressive ptosis OU. HPI: His parents noted painless, progressive, constant ptosis over the last 3 years. The patient denied symptoms of diplopia, weakness, or speech/swallow troubles. He was healthy as a young child. PMH/FH/POH: NSVD. Healthy. No POH. FH negative for history of ptosis/diplopia. No neurologic disease. Two sisters age 6 who are healthy. EXAM Best corrected visual acuities: 20/25 OD and OS. Pupils, IOP, CVF, and SLE were normal. EOM: - 2 deficit in all directions of gaze OU. Ptosis OU (see Figure 2). Fundus: Mild Salt-n-Pepper appearance of the peripheral retina (see Figure 3). Figure 1: Lid Measurements OD OS Palpebral fissure (PF) 5 mm 3 mm Margin reflex distance 1 (MRD1) mm -2 mm Margin reflex distance 2 (MRD2) 5 mm 3 mm Levator function (LF) 8 mm 8 mm Upper lid crease none none Figure 2: School Photos School photos denoting progressive ptosis OU and lost of upper lid crease.

42. EyeOrbit - Chronic Progressive External Ophthalmoplegia (CPEO) - Kearns-Sayre Sy Home / Oculoplastics/Orbit / Chronic Progressive External Ophthalmoplegia (CPEO) kearns-sayre syndrome, Search Top cases Find new cases http://www.eyeorbit.org/eyeorbitgallery/details.php?image_id=206

43. Kearns-Sayre Syndrome Information Diseases Database kearnssayre syndrome, Disease Database Information. http://www.diseasesdatabase.com/ddb7137.htm

Diseases Database Index Sponsors Contact ... Previous Page Kearns-Sayre syndrome information Search Kearns-Sayre syndrome may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Kearns-Sayre syndrome: Definition(s) via UMLS Code translations and terms via UMLS Kearns-Sayre syndrome: specific web sites Send Kearns-Sayre syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 09:35:35 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Content is not asserted complete or error free, please see also our

44. Evidence For Cardioembolic Stroke In A Case Of Kearns-Sayre Syndrome -- Kosinski Conclusions Stroke in kearnssayre syndrome is likely to be due to cardiac embolism. For kearns-sayre syndrome (KSS), there is to our knowledge only one http://stroke.ahajournals.org/cgi/content/full/26/10/1950

This Article Abstract Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Kosinski, C. Stroke. Articles Evidence for Cardioembolic Stroke in a Case of Kearns-Sayre Syndrome Christoph Kosinski, MD Michael Mull, MD Harald Lethen, MD From the Departments of Neurology (C.K., R.T.), Neuroradiology (M.M.), and Cardiology (H.L.), Technical University of Aachen (Germany). Abstract Top Abstract Introduction Case Report Discussion References Background Cerebral infarction is a known complication in patients with mitochondrial encephalomyopathies (MELAS, MERRF, Kearns-Sayre syndrome), but the etiology in the different types remains uncertain. Case Description A 33-year-old woman who had suffered from ophthalmoplegia, bilateral ptosis, ataxia, retinitis pigmentosa, and epilepsy since childhood was diagnosed to have Kearns-Sayre syndrome.

45. Evidence For Cardioembolic Stroke In A Case Of Kearns-Sayre Syndrome -- Kosinski Conclusions Stroke in kearnssayre syndrome is likely to be due to cardiac embolism. Anticoagulant therapy should be considered even for mild forms of http://stroke.ahajournals.org/cgi/content/abstract/26/10/1950

This Article Full Text Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Kosinski, C. Stroke. Articles Evidence for Cardioembolic Stroke in a Case of Kearns-Sayre Syndrome Christoph Kosinski, MD Michael Mull, MD Harald Lethen, MD From the Departments of Neurology (C.K., R.T.), Neuroradiology (M.M.), and Cardiology (H.L.), Technical University of Aachen (Germany). Background Cerebral infarction is a known complication in patients with mitochondrial encephalomyopathies (MELAS, MERRF, Kearns-Sayre syndrome), but the etiology in the different types remains uncertain. Case Description A 33-year-old woman who had suffered from ophthalmoplegia, bilateral ptosis, ataxia, retinitis pigmentosa, and epilepsy since childhood was diagnosed to have Kearns-Sayre syndrome. The diagnosis was confirmed by muscle biopsy when she was 17 years old. A pacemaker was implanted because of the occurrence of bradyarrhythmias

46. Rare Pediatric Disease Database WHAT kearnssayre syndrome is a rare genetic disorder that is WHO kearns-sayre syndrome does not affect a particular racial or ethnic group and http://www.madisonsfoundation.org/content/3/1/display.asp?did=480

47. KSS - Kearns-Sayre Syndrome A 20year-old woman with kearns-sayre syndrome ( KSS) suddenly experienced two Some MELAS patients have features of the kearns-sayre syndrome ( KSS) or http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/89764.html

We studied the metabolism of coenzyme (CoQ) and the effects of CoQ therapy in five patients with Kearns-Sayre syndrome (KSS). Abstract-5158039 Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA : a clinical and molecular genetic study of four children with Kearns-Sayre syndrome Abstract-975224 We believe that MELAS represents a distinctive syndrome and that it can be differentiated from two other clinical disorders that also are associated with mitochondrial myopathy and cerebral disease: Kearns-Sayre syndrome and the myoclonus epilepsy ragged red fiber syndrome Abstract-4809859 Finally, the transcription of the nuclear ATPsyn.beta and genes was induced in parallel with the high level of mtDNA transcripts in MERRF and MELAS muscle , but was repressed in KSS muscle Abstract-7788853 Kearns-Sayre syndrome and hypoparathyroidism Abstract-3019380 Kearns-Sayre syndrome with hypoparathyroidism Abstract-3035305 Treatment of Kearns-Sayre syndrome with coenzyme Abstract-5158039 Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome Abstract-5233209 Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome Abstract-5017336 Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome Abstract-8840146 Kearns-Sayre syndrome

48. Kearns-Sayre Syndrome kearnssayre syndrome. Chronic progressive external ophthalmoplegia with myopathy. CPEO with myopathy. CPEO with ragged-red fibers http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=673

49. Ophthalmoplegia Vitamin E therapy has been used to treat kearnssayre syndrome. kearns-sayre syndrome is disabling, probably shortens the life span, and few if any http://www.healthatoz.com/healthatoz/Atoz/ency/ophthalmoplegia.jsp

50. Kearns-Sayre Syndrome - Talk Medical Humanfriendly medical definition of kearns-sayre syndrome. http://www.talkmedical.com/medical-dictionary/7949/Kearns-Sayre-Syndrome

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Kearns-Sayre Syndrome Kearns-Sayre syndrome: A neuromuscular disorder characterized by three primary findings: Progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia, or CPEO); Abnormal accumulation of colored (pigmented) material on the retina (atypical retinitis pigmentosa), leading to chronic inflammation and progressive degeneration of the retina; and Heart disease (cardiomyopathy) such as cardiac conduction defects and heart block. Other findings in the syndrome may include muscle weakness, short stature, hearing loss, and the loss of ability to coordinate voluntary movements (ataxia) due to problems in the part of the brain called the cerebellum. Kearns-Sayre syndrome is one of the mitochondrial encephalomyopathies. These disorders are due to defects in the DNA of the mitochondria, the cell structures that produce energy. These defects cause the brain and muscles to function abnormally (encephalomyopathy). In about 80% of cases of Kearns-Sayre syndrome, tests reveal deletions in mitochondrial DNA (mtDNA). There are many other names for the Kearns-Sayre syndrome including: CPEO with myopathy; CPEO with ragged-red fibers; KSS; Mitochondrial cytopathy, Kearns-Sayre type; Oculocraniosomatic syndrome; Ophthalmoplegia-plus syndrome; Ophthalmoplegia with myopathy; and Ophthalmoplegia with ragged-red fibers.

51. Kearns-sayre Syndrome - Definition From Biology-Online.org Definition and other additional information on kearnssayre syndrome from Biology-Online.org dictionary. http://www.biology-online.org/dictionary/kearns-sayre_syndrome

Forum Tutorials Dictionary Directory ... K kearns-sayre syndrome Kearns-Sayre syndrome (Science: syndrome) A form of chronic progressive external ophthalmoplegia with associated cardiac conduction defects ... stature , and hearing loss; a sporadically ocurring mitochondrial myopathy presenting in childhood Search the dictionary About Us Contact Us Link to Us Chemistry ... Equations

52. Arch Neurol -- Abstract: Basal Ganglia Calcification In Kearns-Sayre Syndrome, N The kearnssayre syndrome (KSS) appears to be a distinctive disorder characterized by progressive external ophthalmoplegia, pigmentary degeneration of the http://archneur.ama-assn.org/cgi/content/abstract/36/11/711

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 36 No. 11, November 1979 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Robertson WC Lloyd RV Articles that cite this article Contact me when this article is cited Basal ganglia calcification in Kearns-Sayre syndrome W. C. Robertson Jr, C. Viseskul, Y. E. Lee and R. V. Lloyd The Kearns-Sayre syndrome (KSS) appears to be a distinctive disorder characterized by progressive external ophthalmoplegia, pigmentary degeneration of the retina, heart block, and elevated CSF protein levels. Recent reports have suggested that abnormalities of muscle mitochondria may also be a consistent finding in KSS. We recently examined a patient with

53. Arch Neurol -- What Is Kearns-Sayre Syndrome After All?, July 2001, Ashizawa And What Is kearnssayre syndrome After All? Arch Neurol. 2001;581053-1054. Gene in a Patient With a Clinical Phenotype Resembling kearns-sayre syndrome http://archneur.ama-assn.org/cgi/content/extract/58/7/1053

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 58 No. 7, July 2001 Featured Link E-mail Alerts Editorial Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Ashizawa T Subramony SH ISI Web of Science (7) Contact me when this article is cited Topic Collections Neurogenetics Topic Collection Alerts What Is Kearns-Sayre Syndrome After All? Arch Neurol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. EACH MITOCHONDRION contains multiple copies of its own DNA (mtDNA), and possesses its own replication, transcription, and translation machineries.

54. Kearns-Sayre Syndrome Hereditary myopathies Metabolic myopathies Mitochondrial encephalomyopathies Defects of the mitochondrial genome kearnssayre syndrome http://www.medlink.com/PublicCIP.ASP?access=public&UID=MLT000CG&code=

55. Ophthalmoplegia kearnssayre syndrome causes ophthalmoplegia along with loss of pigment in the retina, Vitamin E therapy has been used to treat kearns-sayre syndrome. http://www.chclibrary.org/micromed/00058920.html

Main Search Index Definition Description Causes ... Resources Ophthalmoplegia Definition Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. The condition can be caused by any of several neurologic disorders. It may be myopathic, meaning that the muscles controlling eye movement are directly involved, or neurogenic, meaning that the nerve pathways controlling eye muscles are affected. Diseases associated with ophthalmoplegia are ocular myopathy, which affects muscles, and internuclear ophthalmoplegia, a disorder caused by multiple sclerosis , a disease which affects nerves. Description Because the eyes do not move together in ophthalmoplegia, patients may complain of double vision. Double vision is especially troublesome if the ophthalmoplegia comes on suddenly or affects each eye differently. Because ophthalmoplegia is caused by another, underlying disease, it is often associated with other neurologic symptoms, including limb weakness, lack of coordination, and numbness. Ocular myopathy is also known as mitochondrial encephalomyelopathy with ophthalmoplegia or progressive external ophthalmoplegia. Because it is so often associated with diseases affecting many levels of the neurologic system, it is often referred to as "ophthalmoplegia plus." The main feature is progressive limitation of eye movements, usually with drooping of the eyelids (

56. IngentaConnect Kearns-Sayre Syndrome: Presenting With Vocal Fold Palsy We present the first documented case of kearnssayre syndrome presenting with a vocal fold palsy. References 7 references open in new window http://www.ingentaconnect.com/content/rsm/jlo/2001/00000115/00000012/art00020

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Kearns-Sayre syndrome: presenting with vocal fold palsy Authors: Diamantopoulou P. ; Ward V. M. M. ; Harries M. L. Source: , Volume 115, Number 12, 1 December 2001, pp. 1021-1022(2) Publisher: Royal Society of Medicine Press View Table of Contents full text options Abstract: We present the first documented case of Kearns-Sayre syndrome presenting with a vocal fold palsy. Keywords: KEARNS SYNDROME VOCAL FOLD ... PARALYSIS Language: English Document Type: Research article Affiliations: Department of Otolaryngology, Royal Sussex County Hospital, Brighton, UK The full text article is available for purchase $18.76 plus tax

57. Endocrine Surgeon What is kearnssayre syndrome? This is a very rare syndrome and is also known as oculocraniosomatic disease. The main characteristics of the syndrome are http://www.endocrinesurgeon.co.uk/pancreas/pancreas11-4.html

Summaries of latest endocrine news......Up-to-date information at your fingertips...... Click on arrow to select.... Introduction to Endocrinology Thyroid Parathyroids Adrenals Pancreas Pituitary Multiple Endocrine Neoplasia Carcinoid tumours Erectile dysfunction Pineal Gland and Melatonin Osteoporosis Endocrine Anaesthetics A to Z of diagnostic tests Miscellaneous What is Kearns-Sayre syndrome? This is a very rare syndrome and is also known as oculocraniosomatic disease. The main characteristics of the syndrome are ophthalmoplegia and several endocrine abnormalities. One of the main endocrine abnormalities is diabetes mellitus as well as hypoparathyroidism and hypopituitarism. The cause and pathogenesis of the syndrome are not fully understood, but it is thought that there may be an important autoimmune component.

58. Maladie De Kearns Sayre SNOF kearns-sayre syndrome. Ann. Neurol. 1 37-54, 1977. Berio A, Piazzi A. A case of kearns-sayre syndrome with autoimmune thyroiditis http://www.snof.org/maladies/kearnsSayre.html

Accueil Annonces Art Histoire ... Homepage Maladie de Kearns Sayre Kearns Sayre Syndrome (KSS) Rev 18-09-2004 jmm Ptosis de la maladie de Kearns-Sayre Cette maladie rare apparaissant avant 20 ans, fait partie des et des Cette maladie est principalement sporadique syndrome de Pearson Kearns-Sayre Elle va associer, chez un enfant de petite taille , de nombreux troubles musculaires et visuels Kearns en Clinique Maladie de Kearns Sayre un ptosis une externe typiquement progressive (ou progressive external ophthalmoplegia POE une une cardiomyopathie , de type troubles de la conduction intraventriculaire et auriculo-ventriculaire, bloc de branche notamment. une myopathie , avec signes de faiblesse musculaire d'aggravation progressive, des troubles neurologiques d'autres anomalies Le ptosis et La biopsie musculaire COX RRF Coloration au trichrome de Gomori Actuellement il n'y a pas de traitement Sites web OMIM Mitochondrial disorders United Mitochondrial Disease Foundation Bibliographie Bastiaensen, L. A. K.; Joosten, E. M. G.; de Rooij, J. A. M.; Hommes, O. R.; Stadhouders, A. M.; Jaspar, H. H. J.; Veerkamp, J. H.; Bookelman, H.; van Hinsbergh, V. W. M. : Ophthalmoplegia-plus, a real nosological entity. Acta Neurol. Scand. 58: 9-34, 1978.

59. HOPES Glossary, K kearnssayre syndrome - A rare mitochondrial disorder that usually has an kearns-sayre syndrome is characterized by progressive paralysis of the eye http://www.stanford.edu/group/hopes/sttools/gloss/k.html

Basics of HD Juvenile HD HD Timeline Brain Tutorial ... Figure Index HOPES Glossary Note: Some words can have differing definitions depending on the context in which they are used. The definitions presented here are the ones that best apply to the words as they are used on the HOPES site. A B C D ... Z K kidney - An organ that plays a critical role in the excretory system; it is responsible for generating urine. kinase - A molecule that phosphorylates , or adds a phosphate group onto, other molecules in the cell in order to turn them on or off. Often used in signaling cascades that tell the cell to carry out certain functions. kinetics - The rate at which a compound reacts. More specifically, the kinetics of a particular drug is the rate at which the drug completes its function. Kearns-Sayre syndrome - A rare mitochondrial disorder that usually has an onset before the age of 20. Kearns-Sayre syndrome is characterized by progressive paralysis of the eye muscles and mild skeletal muscle weakness. knock-in - Refers to an organism that has a particular gene or trait purposely inserted by selective breeding or laboratory techniques (e.g., a huntingtin knock-in mouse).

60. Ophthalmic Hyperguide. Oculoplastics: Ophthalmoplegia Plus Syndromes kearnssayre syndrome (KSS) is a subtype of mitochondrial CPEO with MRI of the brain in the kearns-sayre syndrome Report of four cases and a review. http://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/ophthalmoplegia_pl

Search: HELP Tutorial Introduction Mitochondrial Genetics Mitochondrial CPEO Kearns-Sayre Syndrome MELAS and MNGIE Diagnostic Considerations Bibliography Slides Ophthalmoplegia Plus Syndromes Janet Rucker, MD Introduction Neurologic, ophthalmologic, and systemic disorders with common chronic progressive external ophthalmoplegia (CPEO) have been identified. Chronic progressive external ophthalmoplegia may also occur in isolation of any other system involvement. To correctly diagnose the underlying disorder in a patient with CPEO, a baseline understanding of the common disorders and pathways to diagnosis is necessary. The term ophthalmoplegia plus was coined by David Drachman, MD, in 1968 and refers to disorders with abnormalities, often neurologic, in addition to CPEO. Knowledge of these disorders has increased significantly since then; however, overlap between clinical phenotypes and genetic defects for the most common causes of CPEO remains. Chronic progressive external ophthalmoplegia should be considered a sign of disease, rather than a disease. In addition to slowly progressive, bilateral, typically symmetric ocular immobility, bilateral ptosis is often present ( Slide 1 ). Mitochondrial myopathy is the most common cause of CPEO, but CPEO may be a component of other disorders that should be considered in the differential diagnosis (Table 1).

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