Publication: Kearns-Sayre Syndrome: A Rare Mitochondrial Deletion Disorder
Date
2013
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
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