21. Springer LINK: European Journal Of Pediatrics - Abstract Volume 157 Issue 8 (199 Abstract Volume 157 Issue 8 (1998) pp 643647. medical genetics MitochondrialDNA deletion with kearns sayre syndrome in a child with Addison disease. http://link.springer.de/link/service/journals/00431/bibs/8157008/81570643.htm

European Journal of Pediatrics ISSN: 0340-6199 (printed version) ISSN: 1432-1076 (electronic version) Table of Contents Abstract Volume 157 Issue 8 (1998) pp 643-647 medical genetics : Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease R. G. Boles (1), T. Roe (2), D. Senadheera (1), V. Mahnovski (3), L. J. C. Wong (4) (1) Medical Genetics Box 90, Childrens Hospital Los Angeles, 4650 Sunset Blvd., Los Angeles, CA 90027, USA, Tel.: +1 213 669-2178; Fax: +1 213 665-5937, e-mail: rboles@chlais.usc.edu (2) Division of Endocrinology, Childrens Hospital Los Angeles Los Angeles, USA (3) Department of Pathology, Childrens Hospital Los Angeles, Los Angeles, CA, USA (4) Institute for Molecular and Human Genetics, Georgetown University, Washington DC, USA Received: 1 October 1997 / Accepted: 11 March 1998 Abstract Kearns Sayre syndrome (KSS) is a multisystem disorder with a confounding variety of clinical manifestations, including ocular myopathy, pigmentary retinopathy, heart block and ataxia. Endocrinopathies are common in KSS, including growth hormone deficiency, hypogonadism, diabetes mellitus and hypoparathyroidism. A variety of deletions of mitochondrial DNA (mtDNA) are found in most cases. We report on a 5-year-old boy with Addison disease in whom further investigation revealed a 4.9 kilobase mtDNA deletion and KSS. Later he developed severe lactic acidosis and expired. Conclusion The degree of mutant mtDNA heteroplasmy in various tissues on autopsy did not correlate well with the clinical manifestations, although this may be due at least in part to replacement with other tissue types. Our report is the first of non-autoimmune Addison disease in KSS and patients with KSS should be evaluated for adrenal insufficiency. Early recognition of adrenal insufficiency is crucial to prevent mortality from this cause.

22. Health Library - Kearns Sayre Syndrome (KSS) Search. kearns sayre syndrome (KSS). In some cases, KearnsSayre Syndromemay be associated with other disorders and/or conditions. http://www.uvmc.com/library/healthguide/IllnessConditions/topic.asp?hwid=nord367

23. WebMD/Lycos - Article KE kearns sayre syndrome (KSS) KearnsSayre Disease Kennedy Disease Kennedy TypeSpinal and Bulbar Muscular Atrophy Kennedy-Stefanis Disease Kenny Caffe http://webmd.lycos.com/NR/internal.asp?GUID={7A56E3DB-DDB0-49AA-A9A9-56ED8749AA8

24. NINDS Kearns-Sayre Syndrome Information Page kearnssayre syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). What is kearns-sayre syndrome? kearns-sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before http://accessible.ninds.nih.gov/health_and_medical/disorders/kearns_sayre.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Kearns-Sayre Syndrome Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Kearns-Sayre Syndrome Information Page Reviewed 12-27-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Kearns-Sayre Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Kearns-Sayre Syndrome? Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20. It is characterized by progressive external ophthalmoplegia (paralysis of the eye muscles) and mild skeletal muscle weakness. It may also be associated with other manifestations such as retinal pigmentation (abnormal accumulation of pigmented material on the membrane lining the eyes), cardiac conduction defects, short stature, hearing loss, increased cerebrospinal fluid protein, inability to coordinate voluntary movements (ataxia), impaired cognitive dysfunction, diabetes, and other endocrine disorders.

25. Complete Atrioventricular Block In Kearns-Sayre Syndrome Complete Atrioventricular Block in kearnssayre syndrome. Humberto Villacorta, Cláudio Vieira Catharina, Aline Silva http://www.epub.org.br/abc/6702/tago6i.htm

Complete Atrioventricular Block in Kearns-Sayre Syndrome Universidade Federal Fluminense-UFF - Rio de Janeiro, RJ Arquivos Brasileiros de Cardiologia 67(2):, 1996 Full paper in portuguese A thirty-three year old woman, known to have Kearns-Sayre syndrome for eight years, had an ECG pattern of right bundle branch block and left anterior fascicular block that evolved to complete atrioventricular block, leading her to have a syncopal episode. A temporary pacemaker and then a permanent one were installed. The patient has been asymptomatic so far. Summary Email: abc@nib.unicamp.br

26. Emory Genetics Lab, KEARNS-SAYRE SYNDROME (KSS), CHRONIC PROGRESSIVE EXTERNAL OP kearnssayre syndrome, CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA These patients frequently present with ptosis, ophthalmoplegia and mitochondrial myopathy. http://www.emory.edu/WHSC/GENETICSLAB/dna/kearns.htm

KEARNS-SAYRE SYNDROME, CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA INDICATIONS These patients frequently present with ptosis, ophthalmoplegia and mitochondrial myopathy. Severe cases have onset before 20 years of age and also manifest retinitis pigmentosa and a least one of the following: cardiac conduction defects, cerebellar ataxia, or elevated CSF protein above 100 mg/dl. Approximately 83% of KSS and 47% of CPEO patients carry mitochondrial DNA rearrangements detectable by southern analysis. A great majority of these rearrangements are new mutations. Therefore, the patients are heteroplasmic for normal and rearranged mitochondrial DNA molecules. The remainder of cases result from a variety of point mutations. Since mutant mitochondrial DNA molecules may be undetectable in blood cells due to replicative segregation, analysis of muscle biopsy may be necessary if the blood sample is negative for rearrangements or mutations. SPECIMEN SPECIMEN REQUIREMENTS SHIPPING REQUIREMENTS Blood 5-10 ml whole blood in an EDTA ( purple top ) or ACD ( yellow top ) tube.

27. Kearns-Sayre Syndrome kearnssayre syndrome. PubMed Medline search on kearns-sayre syndrome. Mitochondrial myopathies factsheet National http://www.ion.ucl.ac.uk/library/patient/kearnes.htm

Kearns-Sayre syndrome PubMed Medline search on Kearns-Sayre Syndrome Mitochondrial myopathies factsheet: National Institute for Neurological Disorders and Stroke Support Groups Climb The Quadrangle, Crewe Hall, Weston Road, Crewe, Cheshire CW1 6UR Tel: 01270 250221 (information, advice and support to parents and professionals involved with metabolic diseases). The office is open 9.00am - 5.00pm Mondays to Fridays. Fax: 01270 250244 A national umbrella organisation working on behalf of children, young people and families affected by metabolic disease. Offers a telephone helpline for information, counselling and support; written information by post (detailed information only available following confirmed diagnosis, appropriate professional counselling and telephone contact); details of other agencies and sources of help; information about the latest research and whom to contact for specialist advice etc.

28. NINDS - News And Events Sorry! There are no press releases for kearnssayre syndrome. Useyour browser's Back button to return to your previous activity. http://www.ninds.nih.gov/health_and_medical/news.htm?url=/health_and_medical/dis

29. Kearns-Sayre Syndrome Information Page Diseases Database kearnssayre syndrome Information Page. kearns-sayre syndrome relatedtopics and Gokearns-sayre syndrome specific sites. GoSend kearns http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=7137

30. EMedicine - Kearns-Sayre Syndrome : Article Excerpt By: Ewa Posner, MD to view the full topic text kearnssayre syndrome. Background kearns-sayre syndrome (KSS) is characterized by a triad http://www.emedicine.com/ped/byname/kearns-sayre-syndrome.htm

(advertisement) Excerpt from Kearns-Sayre Syndrome Synonyms, Key Words, and Related Terms: KSS, ophthalmoplegia-plus syndrome, oculocraniosomatic syndrome, chronic progressive external ophthalmoplegia and myopathy, CPEO, chronic progressive external ophthalmoplegia with ragged red fibers, mitochondrial cytopathy, ophthalmoplegia, pigmentary degeneration of the retina, cardiomyopathy, progressive ophthalmoplegia Please click here to view the full topic text: Kearns-Sayre Syndrome Background: Kearns-Sayre syndrome (KSS) is characterized by a triad of features including (1) onset in persons younger than 20 years; (2) chronic, progressive, external ophthalmoplegia; and (3) pigmentary degeneration of the retina. In addition, KSS may include cardiac conduction defects, cerebellar ataxia, and raised cerebrospinal fluid (CSF) protein levels (>100 mg/dL). Additional features associated with KSS may include myopathy, dystonia, endocrine abnormalities (eg, diabetes, growth retardation/short stature, hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis. Thus, KSS may affect many organ systems. Pathophysiology: KSS occurs secondary to deletions in mitochondrial DNA (mtDNA) that cause a particular phenotype. The gene in which deletions occur is identified as Online Mendelian Inheritance in Man number 530000. An understanding of some aspects of mitochondrial genetics is important to understanding KSS.

31. Delta Health Education Center Digital LIbrary Clinical Resources by Topic Metabolic Disorders kearnssayre syndrome Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines News Miscellaneous Resources See also Genetic Testing Clinical Resources General Genetic Disorders http://dhec-dl.slis.ua.edu/clinical/metabolism/inborn/mitochondrial/kearns.htm

Clinical Resources by Topic: Metabolic Disorders Kearns-Sayre Syndrome Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Kearns-Sayre Syndrome Patient/Family Resources The Merck Manual 17th Ed.-1999: Table of contents Chapter 184: Muscular Disorders: Table of contents Myopathies: Access document CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Kearns Syndrome: List of documents Pediatrics Resources See also General Pediatrics Resources Pediatrics (eMedicine): Table of contents Kearns-Sayre Syndrome: Access document Pathology Resources Neuromuscular Disease Center (WUSTL): Homepage Table of contents Mitochondrial Disease: Access document Cytochrome Oxidase: Access document Ragged Red Fibers: Access document SDH: Access document Ultrastructure: Access document Genetics Resources See also General Genetics Resources Online Mendelian Inheritance in Man: Homepage Kearns-Sayre Syndrome: Access document Clinical Guidelines National Guideline Clearinghouse: MeSH browse Detailed search Muscular Diseases (MeSH browse): List of documents News Resources Doctor's Guide to the Internet Homepage Neurology News List of documents Brain Disease (Keyword search): List of documents Miscellaneous Kearns-Sayre Syndrome Clinical Resources YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

32. Florida State University College Of Medicine Digital Library Disorders. kearnssayre syndrome Clinical Resources. Pediatrics (eMedicine)Table of contents kearns-sayre syndrome Access document. Pathology http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/mitochondrial/kearns.htm

Clinical Resources by Topic: Metabolic Disorders Kearns-Sayre Syndrome Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Kearns-Sayre Syndrome Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 383: Muscular Dystrophies and Other Muscle Diseases: Table of contents Introduction: Access document Mitochondrial Myopathies: Access document mtDNA Disorders of Muscles: Access document Chapter 67: Diseases Caused by Genetic Defects of Mitochondria: Table of contents Introduction: Access document Structure and Function of Mitochondrial DNA: Access document Mitochondrial DNA Mutations: Access document Classic Mitochondrial Encephalomyopathy Phenotypes: Access document Organ System Manifestations of Mitochondrial Disease: Access document Role of Mitochondrial DNA Mutations in Prevalent Diseases: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult)

33. Kirklin Clinic Digital Library Patient/Family Resources by Topic Metabolic Disorders kearnssayre syndrome Patient/Family Resources Miscellaneous See also Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders http://kirklinclinic-dl.slis.ua.edu/patientinfo/metabolism/inborn/mitochondrial/

Patient/Family Resources by Topic: Metabolic Disorders Kearns-Sayre Syndrome Patient/Family Resources Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Kearns-Sayre Syndrome Clinical Resources National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Mitochondrial Myopathies: Access document Miscellaneous Kearns-Sayre Syndrome Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Mitochondrial Disorders: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed. YAHOO - Health:Diseases and Conditions:Genetic Disorders Additional Genetic Disorders resources ( These sites have not been reviewed.

34. Florida State University College Of Medicine Digital Library kearnssayre syndrome Patient/Family Resources. Mitochondrial Myopathies Accessdocument. Miscellaneous kearns-sayre syndrome Patient/Family Resources http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/mitochondrial/kearns.

Patient/Family Resources by Topic: Metabolic Disorders Kearns-Sayre Syndrome Patient/Family Resources Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Kearns-Sayre Syndrome Clinical Resources National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Mitochondrial Myopathies: Access document Miscellaneous Kearns-Sayre Syndrome Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Mitochondrial Disorders: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed. YAHOO - Health:Diseases and Conditions:Genetic Disorders Additional Genetic Disorders resources ( These sites have not been reviewed.

35. EMedicine - Kearns-Sayre Syndrome : Article By Ewa Posner, MD kearnssayre syndrome - kearns-sayre syndrome (KSS) is characterized by a triadof features including (1) onset in persons younger than 20 years; (2) chronic http://www.emedicine.com/ped/topic2763.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Kearns-Sayre Syndrome Last Updated: April 22, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: KSS, ophthalmoplegia-plus syndrome, oculocraniosomatic syndrome, chronic progressive external ophthalmoplegia and myopathy, CPEO, chronic progressive external ophthalmoplegia with ragged red fibers, mitochondrial cytopathy, ophthalmoplegia, pigmentary degeneration of the retina, cardiomyopathy, progressive ophthalmoplegia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Ewa Posner, MD , Specialist Registrar in Paediatrics, Department of Pediatric Neurology, Newcastle General Hospital, UK Coauthor(s): Anna Basu, MA, BMBCh, MRCPCH , Staff Physician, Department of Pediatrics, Newcastle General Hospital, Newcastle, United Kingdom; DM Turnbull, MBBS, PhD, MD

36. EMedicine - Chronic Progressive External Ophthalmoplegia : Article Excerpt By: T kearnssayre syndrome (KSS) is a related mitochondrial myopathy that demonstratesthe following CPEO, onset before age 20, and pigmentary retinopathy. http://www.emedicine.com/oph/byname/chronic-progressive-external-ophthalmoplegia

(advertisement) Excerpt from Chronic Progressive External Ophthalmoplegia Synonyms, Key Words, and Related Terms: abiotrophic ophthalmoplegia, CPEO with ragged red fibers, oculocraniosomatic neuromuscular disease, ocular myopathy, Olson disease, Kearns-Sayre-Daroff syndrome, Kearns-Sayre syndrome, progressive external ophthalmoplegia plus Please click here to view the full topic text: Chronic Progressive External Ophthalmoplegia Background: Chronic progressive external ophthalmoplegia (CPEO) is a disorder characterized by slowly progressive paralysis of the extraocular muscles. Patients usually experience bilateral, symmetrical, progressive ptosis, followed by ophthalmoparesis months to years later. Ciliary and iris muscles are not involved. CPEO is the most frequent manifestation of mitochondrial myopathies. CPEO in association with mutations in mitochondrial DNA (mtDNA) may occur in the absence of any other clinical sign, but usually it is associated with skeletal muscle weakness. Kearns-Sayre syndrome (KSS) is a related mitochondrial myopathy that demonstrates the following: CPEO, onset before age 20, and pigmentary retinopathy. KSS also has at least one of the following: cardiac conduction defects, cerebrospinal fluid (CSF), protein of greater than 100 mg/dL, and a cerebellar syndrome. Other abnormalities in KSS can include mental retardation, Babinski sign, hearing loss, seizures, short stature, delayed puberty, and various endocrine disorders. CPEO also can be a sign in the following disorders: oculopharyngeal dystrophy, myasthenia gravis, and Graves disease.

37. KEARNS-SAYRE SYNDROME Features Listed For kearnssayre syndrome. McKusick 165100. Cardiomyopathy; Deafness,conductive; Deafness, sensorineural; ECG abnormality/conduction defects; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?914

38. Eye Conditions > Kearns-Sayre Syndrome -- EyeMDLink.com Last Updated 9/16/2001. kearnssayre syndrome. Chronic progressiveexternal ophthalmoplegia (CPEO), also known as kearns-sayre syndrome http://www.eyemdlink.com/Condition.asp?ConditionID=259

39. Arch Neurol -- Page Not Found Arch Neurol. 58;10531054, July 2001, What Is kearns-sayre syndrome After All?, TetsuoAshizawa, MD; SH Subramony, MD. What Is kearns-sayre syndrome After All? http://archneur.ama-assn.org/issues/v58n7/ffull/ned00024.html

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40. ORPHANET® : Kearns-Sayre Syndrome Translate this page ORPHANET. ORPHANET database access. kearns-sayre syndrome.Direct access to details Alias Home Page. http://www.orpha.net/static/GB/kearns_sayre.html

ORPHANET database access Kearns-Sayre syndrome Direct access to details Alias : Home Page

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