Biomaterial Database

[The Kearns-Sayre syndrome]. 1993

A A Shutov, and A A Chudinov, and S G Nesterova

The paper describes Kearns-Sayre's syndrome, a rare hereditary neuromuscular disease, in a patient aged 17 years. The clinical picture of the disease had a classical triad: external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction disturbances. This triad was supplemented with other polymorphous symptoms characteristic of the syndrome, such as moderate myopathic syndrome, hemeralopia, physical infantilism, hypogonadism, pyramidal syndrome. Bifascicular block in the His-Purkinje system was accompanied by mitral prolapse. The problems of early diagnosis of the syndrome and choice of adequate therapeutical methods are discussed.

UI	MeSH Term	Description	Entries
D007625	Kearns-Sayre Syndrome	A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)	Kearns Syndrome,CPEO with Myopathy,CPEO with Ragged Red Fibers,Chronic Progressive External Ophthalmoplegia with Myopathy,Cpeo With Ragged-Red Fibers,Kearn-Sayre Mitochondrial Cytopathy,Kearns Sayre Syndrome,Kearns' Syndrome,Kearns-Sayre Mitochondrial Cytopathy,Kearns-Sayre-Shy-Daroff Syndrome,Oculocraniosomatic Syndrome,Ophthalmoplegia Plus Syndrome,Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy,Ophthalmoplegia, Progressive External, With Ragged-Red Fibers,Ophthalmoplegia-Plus Syndrome,CPEO with Myopathies,Cytopathies, Kearns-Sayre Mitochondrial,Cytopathy, Kearn-Sayre Mitochondrial,Cytopathy, Kearns-Sayre Mitochondrial,Kearn Sayre Mitochondrial Cytopathy,Kearn Syndrome,Kearns Sayre Mitochondrial Cytopathy,Kearns Sayre Shy Daroff Syndrome,Kearns-Sayre Mitochondrial Cytopathies,Mitochondrial Cytopathies, Kearns-Sayre,Mitochondrial Cytopathy, Kearn-Sayre,Mitochondrial Cytopathy, Kearns-Sayre,Myopathies, CPEO with,Myopathy, CPEO with,Oculocraniosomatic Syndromes,Ophthalmoplegia Plus Syndromes,Ophthalmoplegia-Plus Syndromes,Sayre Syndrome, Kearns,Syndrome, Kearns,Syndrome, Kearns Sayre,Syndrome, Kearns',Syndrome, Kearns-Sayre,Syndrome, Kearns-Sayre-Shy-Daroff,Syndrome, Oculocraniosomatic,Syndrome, Ophthalmoplegia Plus,Syndrome, Ophthalmoplegia-Plus,Syndromes, Ophthalmoplegia-Plus
D008297	Male		Males
D009460	Neurologic Examination	Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.	Examination, Neurologic,Neurological Examination,Examination, Neurological,Examinations, Neurologic,Examinations, Neurological,Neurologic Examinations,Neurological Examinations
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths