Kearns-Sayre Syndrome: A Rare Mitochondrial Deletion Disorder

Journal of Nepal Paediatric Society

MK Das¹  G Mondal³  D Nanda²  S Das⁴  B Roy⁵ 

[1] Dr. B.C.Roy Postgraduate Institute of Paediatric Sciences, Kolkata, W.B;Dr. BC Roy Postgraduate Institute of Paediatric Sciences, Kolkata, West Bengal;Burdwan Medical College, West Bengal;Institute of Hygiene, Kolkata, West Bengal;Dr. B.C. Roy Postgraduate Instituteof Paediatric Sciences, Kolkata, West Bengal

关键词: Ptosis;    ophthalmoplegia;    pigmentary retinopathy;    KSS;    mitochondrial deletion;   

DOI  :  

学科分类：儿科学

来源: Nepal Paediatric Society

【 摘 要 】

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.

【 授权许可】

Unknown