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Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   2013 , Volume 7 , Number 4 (SUPPL.1); Page(s) 22 To 23.
 
Paper: 

KEARNS-SAYRE SYNDROME

 
 
Author(s):  JAVADZADEH MOHSEN*
 
* MOFID CHILDREN HOSPITAL, SHARIATI AVE, TEHRAN, IRAN
 
Abstract: 

Introduction Kearns-Sayre syndrome (KSS) is specified by pigmentary retinopathy and ophthalmoparesis which should begin before 20 years of age. There are also some other clinical features which are common, some of these freatures are the following: cerebellar ataxia, increased cerebrospinal fluid (CSF) protein, conduction block in heart, and proximal myopathy. Many of the patients also have short stature and some of them have multiple endocrinopathies such as diabetes mellitus, hypoparathyroidism, and Addison diseas.

 
Keyword(s): KEARNS-SAYRE, MITOCHONDRIAL, ATAXIA, RETINOPATHY
 
References: 
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