This paper reported an unusual manifestation of a 19-year-old Chinese male patient presented with a complex phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome and Kearns-Sayre syndrome (KSS). He was admitted to our hospital with the chief complaint of "acute fever, headache and slow reaction for 21 days". He was initially misdiagnosed as "vir...

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome1 is one of the most frequently inherited mitochondrial disorders. MELAS syndrome is a systemic disease with multiple organ involvement.2 The most common mutation in MELAS is the m.3243A>G mutation in the MT-TL1 gene.2.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare but important cause of stroke-like symptoms which can often be missed Thambisetty and Newman 2004. We describe a case of a young male presenting with stroke-like episodes, later diagnosed with MELAS in an attempt to improve the understanding about diagnosing MELAS in the appropriate clin...

Myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a multisystem clinical syndrome manifested by mitochondrial myopathy, encephalopathy, lactic acidosis and recurrent stroke-like episodes. A 27-year-old female with MELAS syndrome presented with cerebral infarction. Echocardiography revealed a thrombus attached to the apex of the hypertrophied left ventricle, with decr...

MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome was first described in 1984 by Pavlakis et al. [1] after reporting three cases of their own and identifying eight others in the literature. Although MELAS syndrome shares some similarities with Kearns-Sayre syndrome and MERRF (myoclonus epilepsy and ragged-red fibers) syndrome, they believe it to be a distinct ...

m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with ME...

MELAS (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke-like episodes) is a syndrome in which signs and symptoms of gastrointestinal disease are uncommon if not rare. We describe the case of a young woman who presented as an acute surgical emergency, diagnosed as toxic megacolon necessitating an emergency total colectomy. MELAS syndrome was suspected postoperatively owing ...

We describe a case of mitochondrial encephalopathy, lactacidosis, and stroke-like episode (MELAS syndrome) associated with ventricular septal defect and meningocele at the L3 level in a 5-year-old girl. Mitochondrial DNA analysis showed point mutation at nucleotide 3271--> TC. The occurrence of heart and neural tube defects in association with usual features of the MELAS syndrome might be expla...

A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) syndrome had progressive left ventricular hypertrophy (LVH) on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial tachycardia, a finding not been previously described in this population. This unique case of MELAS syndrome demonstrates the known associated ...

Mitochondrial dysfunction mainly affects organs with high metabolic demand, primarily the brain. Epilepsy is a common phenotypic sign of both syndromic and non-syndromic mitochondrial diseases. in diseases poorly treatable often an unfavorable prognostic sign. Patients epilepsy are prescribed various anti-seizure medications. Mitochondriotoxic drugs should be avoided. Descriptions MELAS-syndrom...