Kearns-Sayre Syndrome: A Rare Mitochondrial Disorder

Authors

  • Quazi Tarikul Islam Professor, Medicine, Popular Medical College Hospital, Dhaka
  • Homayra Tahseen Hossain Associate Professor, Medicine, Popular Medical College Hospital, Dhaka
  • Md Abul Kashem Khandaker Professor & Head of Medicine, Popular Medical College Hospital, Dhaka
  • HAM Nazmul Ahasan Professor, Medicine, Popular Medical College Hospital, Dhaka
  • Maksudul Majumder Registrar, Medicine, Popular Medical College Hospital, Dhaka
  • Ishrat Binte Reza Registrar, Medicine, Popular Medical College Hospital, Dhaka
  • Tajnuva Jabeen Asstt. Registrar, Medicine, Popular Medical College Hospital, Dhaka
  • Khaddoker Morshedul Alam Intern Doctor, Popular Medical College Hospital, Dhaka

DOI:

https://doi.org/10.3329/jom.v19i1.34847

Keywords:

Mitochondrial disease, Kearns Sayre syndrome, progressive external ophthalmoplegia

Abstract

Mitochondrial disease, once thought to be a rare clinical entity, is now recognized as an important cause of a wide range of neurologic, muscle, cardiac and endocrine disorders. Kearns Sayre syndrome is a rare mitochondrial disease, involving deletion of mitochondrial DNA. This syndrome ischaracterized by progressive external ophthalmoplegia (PEO), retinitis pigmentosa and an onset before the age of 20 years. First case was reported in 1958. We are reporting a case with chronic progressive external ophthalmoplegia, bilateral partial ptosis with onset at 10 years of age. He also had features of myopathy and neuropathy without any fatigable weakness. Our diagnosis is mostly based on clinical background and by exclusion of other common disorders, as definitive diagnostic investigation genetic testing due to unavailability so was not done.

J MEDICINE Jan 2018; 19 (1) : 66-69

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Published

2017-12-07

How to Cite

Islam, Q. T., Hossain, H. T., Khandaker, M. A. K., Ahasan, H. N., Majumder, M., Reza, I. B., Jabeen, T., & Alam, K. M. (2017). Kearns-Sayre Syndrome: A Rare Mitochondrial Disorder. Journal of Medicine, 19(1), 66–69. https://doi.org/10.3329/jom.v19i1.34847

Issue

Section

Case Reports