scholarly journals Atypical Strokes in a Young African American Male: A Case of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-2
Author(s):  
Jully M. Sanchez ◽  
Judy Ann Tan ◽  
Dimitrios Farmakiotis ◽  
Vikas Aggarwal
Keyword(s):  
African American ◽  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
African American Male ◽  
Young Male ◽  
Melas Syndrome ◽  
Clinical Context ◽  
Mitochondrial Encephalopathy

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 clinical context.

scholarly journals Detection of a new case harboring mitochondrial A3243G mutation of MELAS syndrome

2017 ◽  
Vol 33 (1S) ◽  
Author(s):  
Phung Bao Khanh ◽  
Nguyen Minh Hoang ◽  
Pham Van Anh ◽  
Le Ngoc Anh ◽  
Cao Vu Hung ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
Lactic Acidosis ◽  
Real Time ◽  
Mutation Analysis ◽  
Real Time Pcr ◽  
Melas Syndrome ◽  
Mitochondrial Encephalopathy ◽  
Pcr Rflp ◽  
A3243g Mutation ◽  
Severity Of The Disease

Mitochondrial genome A3243G mutation in the tRNALeu(UUR)  encodinggene (MTTL)is the main cause of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). This mutation exists in heteroplasmic form and severity of the disease is affected by many factors including heteroplasmy level. In this study, a pediatric proband (female, 8 years old) was found to carry A3243G mutation at 77.6% of heteroplasmy by using PCR-RFLP in combination with real-time PCR. The results of  the A3243G mutation analysis of the proband’s family showed that her mother without any symptoms of encephalopathyalso carried the mutation at 7.9% of heteroplasmy whereas the mutation was not found in the proband’s healthy father and healthy sister, indicating that the proband received the A3243G mutation from her mother and the expression of MELAS syndromes depended on the level of heteroplasmy.

scholarly journals Unraveling an Unusual Phenocopy of Hypertrophic Cardiomyopathy: MELAS Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 295
Author(s):  
Anna B. Reid ◽  
Luigi Venetucci ◽  
Matthias Schmitt ◽  
Gaetano Nucifora
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Lactic Acidosis ◽  
Left Ventricular Hypertrophy ◽  
Cardiac Imaging ◽  
Mitochondrial Myopathy ◽  
Ventricular Hypertrophy ◽  
Cardiac Involvement ◽  
Left Ventricular ◽  
Imaging Features ◽  
Melas Syndrome

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is an uncommon cause of cardiac hypertrophy, fibrosis, and dysfunction. It shares similar features to numerous other causes of left ventricular hypertrophy, and therefore, because of its rarity, may not be immediately considered as a diagnosis. Prompt recognition of clinical and cardiac imaging features may expedite diagnosis and management. We report the case of a 38-year-old man admitted with neurological symptoms and in whom the diagnostic workup led to the diagnosis of MELAS syndrome with cardiac involvement.

scholarly journals Status Epilepticus as the Initial Manifestation of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome

2020 ◽  
Vol 38 (4) ◽  
pp. 276-280
Author(s):  
Joong-Goo Kim ◽  
Chul-Hoo Kang ◽  
Jay Chol Choi ◽  
Jiyong Shin ◽  
Min-Ju Kim ◽  
...  
Keyword(s):  
Lactic Acid ◽  
Status Epilepticus ◽  
Genetic Testing ◽  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
Mitochondrial Disorder ◽  
Mitochondrial Encephalomyopathy ◽  
Melas Syndrome ◽  
Initial Manifestation ◽  
Severe Lactic Acidosis

Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that is rarely observed in adulthood. We report a case of MELAS syndrome diagnosed in a 22-year-old man presented with status epilepticus (SE) without a preceding stroke-like episode. Genetic testing revealed a mutation of heteroplasmic m.3243A>G. MELAS should be suspected in patients with recurrent, uncontrolled SE with unexplained severe lactic acidosis.

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