Kearns-Sayre syndrome--a case report.
نویسنده
چکیده
A case of Kearns - Sayre Syndrome characterized by a triad of external ophthalmoplegia, retinal dystrophy and cardiomyopathy is discussed. Ocular examination and cardiologic screening of family members is requested.
منابع مشابه
Hypoparathyroidism as the First Mani-Festation of Kearns-Sayre Syndrome: A Case Report
Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms of this condition include retinitis pigmentosa, chronic progressive external ophthalmoplegia, and one or more of the following factors: cardiac conduction system diseases, cerebellar ataxia, and cerebrospinal fluid (CSF) with protein content above 100 mg/dL. The nature of thi...
متن کاملHypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report
OBJECTIVE Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms include retinitis pigmentosa, chronic and progressive external ophthalmoplegia plus one or more of following factors: heart conduction system disorders, cerebellar ataxia, or cerebrospinal fluid (CSF) protein content above 100 mg/dL. The nature of this uncommon dise...
متن کاملA report on a rare case of Kearns Sayre-like syndrome.
PURPOSE To report the presentation of a rare case of Kearns-Sayre-like syndrome (KSS) CASE: A 14-year-old boy presented with progressive drooping of both upper eyelids for 10 years. Past history of right sided hemi-plegia and left facial nerve palsy was present. Examination (OU) showed total external ophthalmoplegia, ptosis and pigmentary retinopathy. The patient also had a short stature (heigh...
متن کاملA rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation
Kearns-Sayre syndrome (KSS) was first described in 1958 as 'a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy, atrioventricular block and cerebellar ataxia'. The prevalence rate of KSS is ∼1-3 per 100 000 individuals. Here, we report a rare case of a 17-year-old Venezuelan male with KSS.
متن کاملDe Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report
INTRODUCTION Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. CASE PRESENTATION We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac ...
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ورودعنوان ژورنال:
- Indian journal of ophthalmology
دوره 38 4 شماره
صفحات -
تاریخ انتشار 1990