Kearns-Sayre Syndrome Differential Diagnoses

  • Author: Anna Purna Basu, PhD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Feb 4, 2010
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Anna Purna Basu, PhD  BMBCh, MRCPCH, Academic Clinical Lecturer; Specialist Registrar, Pediatric Neurology, Great North Childrens Hospital, Newcastle upon Tyne

Anna Purna Basu, PhD is a member of the following medical societies: Academic Paediatrics Association (UK), British Association of Childhood Disability, British Medical Association, British Neuroscience Association, British Paediatric Neurology Association, and Royal College of Paediatrics and Child Health

Disclosure: Nothing to disclose.

Coauthor(s)

Ewa Posner, MD, MRCP  Consultant Pediatrician, Department of Pediatrics, University Hospital of North Durham, UK

Ewa Posner, MD, MRCP is a member of the following medical societies: European Paediatric Neurology Society and Royal College of Paediatrics and Child Health

Disclosure: Nothing to disclose.

Robert McFarland, MA, MBBS, PhD, MRCP  Department of Health/HEFCE Clinical Senior Lecturer and Consultant Paediatric Neurologist, Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation Trust

Disclosure: Nothing to disclose.

D M Turnbull, MBBS, PhD, MD  Professor, Department of Neurology, University of Newcastle Upon Tyne, UK; Honorary Consultant Neurologist, Royal Victoria Infirmary, Newcastle Upon Tyne, UK

D M Turnbull, MBBS, PhD, MD is a member of the following medical societies: Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

Erawati V Bawle, MD, FAAP, FACMG  Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD  Professor and Chair of Pediatrics, Stony Brook University, New York

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics

Disclosure: Genzyme Grant/research funds PI

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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Skeletal muscle stained for both cytochrome oxidase (COX) and succinic dehydrogenase (SDH), two mitochondrial respiratory chain enzymes. Fibers that stain only for SDH and are COX-negative appear blue. Original magnification X 50.
Bilateral ptosis and external ophthalmoplegia. Top: patient looking straight ahead. Below: patient is being asked to look in the direction of the arrow in each case. Restriction of eye movements in each direction is demonstrated.
Modified Gomori Trichrome stain showing ragged red fibres. These show red staining round the periphery as well as within the sarcoplasm, giving a speckled appearance. Of the two affected muscle fibres pictured here, the one on the right shows a more extreme degree of mitochondrial proliferation and also some degeneration/vacuolation than the one on the left.
 
 
 
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