Kearns-Sayre Syndrome: A Rare Mitochondrial Deletion Disorder

  • B Roy Dr. B.C. Roy Postgraduate Institute of Paediatric Sciences, Kolkata, West Bengal
  • G Mondal Burdwan Medical College, West Bengal
  • D Nanda Dr. BC Roy Postgraduate Institute of Paediatric Sciences, Kolkata, West Bengal
  • S Das Institute of Hygiene, Kolkata, West Bengal
  • MK Das Dr. B.C.Roy Postgraduate Institute of Paediatric Sciences, Kolkata, W.B
Keywords: Ptosis, ophthalmoplegia, pigmentary retinopathy, KSS, mitochondrial deletion

Abstract

A 9 yr girl presented with bilateral ptosis and deafness of gradual onset for the last four years. Associated ophthalmoplegia and pigmentary retinopathy, heart block, raised CSF protein and serum lactate was suggestive of the diagnosis of Kearns-Sayre syndrome (KSS), a rare entity in the spectrum of the mitochondrial deletion syndrome. Search for endocrinopathy revealed no abnormality.

DOI: http://dx.doi.org/10.3126/jnps.v33i1.6696

J Nepal Paediatr Soc. 2013;33(1):61-62

Downloads

Download data is not yet available.
Abstract
749
PDF
658

Author Biographies

B Roy, Dr. B.C. Roy Postgraduate Institute of Paediatric Sciences, Kolkata, West Bengal
R.M.O cum Clinical Tutor
G Mondal, Burdwan Medical College, West Bengal
Assistant Professor, Department of Paediatric Medicine
D Nanda, Dr. BC Roy Postgraduate Institute of Paediatric Sciences, Kolkata, West Bengal
RMO cum Clinical Tutor
S Das, Institute of Hygiene, Kolkata, West Bengal

Post graduate student in Community Medicine

MK Das, Dr. B.C.Roy Postgraduate Institute of Paediatric Sciences, Kolkata, W.B
Professor and Head, Department of Paediatric Medicine
Published
2013-06-15
How to Cite
Roy, B., Mondal, G., Nanda, D., Das, S., & Das, M. (2013). Kearns-Sayre Syndrome: A Rare Mitochondrial Deletion Disorder. Journal of Nepal Paediatric Society, 33(1), 61-62. https://doi.org/10.3126/jnps.v33i1.6696
Section
Brief Reports/Case Reports/Case Series