Kearns-Sayre Syndrome: A Rare Mitochondrial Deletion Disorder

Roy, B; Mondal, G; Nanda,  D; Das, S; Das, MK

Publication:
Kearns-Sayre Syndrome: A Rare Mitochondrial Deletion Disorder

creativeworkseries.issn	ISSN 1990-7974 eISSN 1990-7982
dc.contributor.author	Roy, B
dc.contributor.author	Mondal, G
dc.contributor.author	Nanda, D
dc.contributor.author	Das, S
dc.contributor.author	Das, MK
dc.date.accessioned	2026-05-20T10:03:27Z
dc.date.available	2026-05-20T10:03:27Z
dc.date.issued	2013
dc.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
dc.description.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.
dc.identifier	https://doi.org/10.3126/jnps.v33i1.6696
dc.identifier.uri	https://hdl.handle.net/20.500.14572/6153
dc.language.iso	en_US
dc.publisher	Nepal Paediatric Society (JNPS)
dc.subject	Ptosis
dc.subject	ophthalmoplegia
dc.subject	pigmentary retinopathy
dc.subject	KSS
dc.subject	mitochondrial deletion
dc.title	Kearns-Sayre Syndrome: A Rare Mitochondrial Deletion Disorder
dc.type	Article
dspace.entity.type	Publication
local.article.type	Case Report
oaire.citation.endPage	62
oaire.citation.startPage	61
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