Acute cortical deafness in a child with MELAS syndrome
نویسندگان
چکیده
منابع مشابه
acute renal failure in a child with idiopathic nephritic syndrome
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متن کاملMELAS SYNDROME IN TWO IRANIAN CHILDREN
MELAS syndrome is a mitochondrial disorder with progressive nature, because adequate treatment is not available. Diagnosis of this mitochondrial disorder depends initially on clinical suspicion, which is strengthened by additional metabolic evidence of impaired oxidative metabolism such as high serum or C.S.F. lactate levels and confirmed by demonstration of mitochondrial abnormalities-in ...
متن کاملPrecipitation of stroke-like event by chickenpox in a child with MELAS syndrome.
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) is a rare congenital disorder of mitochondrial DNA (mtDNA). Herein we report a case of MELAS, whose second stroke-like episode was provoked by chickenpox. A point mutation at nucleotide (nt) 3243 in mtDNA supported the diagnosis of MELAS in this case. History of myopathy, the presence of lesio...
متن کاملArrhythmias in MELAS syndrome
With interest we read the article by Thomas et al. about a 44 year old female with MELAS syndrome due to the m.3243ANG mutation, which manifested cardiologically as hypertrophic cardiomyopathy and episodes of supraventricular tachycardia requiring atenolol [1]. We have the following comments and concerns. MELAS may be associated with sudden cardiac death [2]. Did the authors consider implantati...
متن کاملEpilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report
BACKGROUND Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families. CASE REPORT A European male of non-consanguineous birth, with early-onset, static ataxic motor disorder, intellectual ...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2016
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-016-9929-x