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KEARNS SAYRE SYNDROME - A CASE REPORT

NITHYA .

Abstract


Kearns sayre syndrome also known as                    oculocraniosomatic disease with ragged red fibers is a            mitochondrial myopathy with typical onset before 20 years of age. This is a case report of a 35 years old male who              presented to us with ptosis, chronic progressive external  ophthalmoplegia (CPEO), pigmentary retinopathy, deafness and heart block. He had all the classic clinical features of kearns sayre syndrome.


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References


Chinnery PF, Dimauro S, Shanske S et al: Risk of developing a mitochondrial DNA deletion disorder. Lancet. Aug 14 – 20 2004; 364 (9434) : 592-6.

Kearns TP, Sayre GP (August 1958): “Retinitis Pigmentosa, external ophthalmoplegia and complete heart block: Unsual syndrome with histologic study in one of 2 cases.” AMA Archives of ophthalmology; 60(2) : 280-9.

Lestienne P. Ponset G (April 1988): “ Kearns Sayre Syndrome with muscle mitochondrial DNA deletion”. Lancet 1; (8590) :885

Miller, Neil R, Newman, Nancy J. Walsh and Hoyt’s clinical Neuroophthalmology . 5 th edition .volume 1; Pg. 1381.

Ogasahara S, Yorifigi S.Nishikaway, et al (March 1985): “ Improvement of abnormal pyruvate metabolism and cardiac conduction deficit with COQ 10 in KSS.” Neurology ;35 (3): 372-7.

Zevieni M, Moraes CT, Dimauro S, et al ( Sep 1988 ); “ Deletions of mitochondrial DNA in Kearns Sayre Syndrome” Neurology; 38 ( 9): 1339-46.


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