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C-0241 - Role of neuroimaging in MELAS syndrome

N. Rojo Sanchis1, M. Cambra Marti1, A. Marin Canete2, A. Sanchez Laforga1; 1 Sant Boi de Llobregat/ES 2 Rubi/ES Type: Educational Exhibit
Area of Interests: CNS, Neuroradiology brain
Imaging Techniques: MR-Spectroscopy, MR, MR-Diffusion/Perfusion
Procedures: Molecular imaging, Imaging sequences
Special Focus: Metabolic disorders
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Learning objectives: MELAS syndrome (Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes), is considered a mitochondrial encephalopathy, a group of diseases which have in common biochemical defects in cell mitochondrial respiratory chain. Sometimes it is difficult to reach a diagnosis due to the pos[...]

Background: MELAS syndrome (Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes) was first described by Pavlakis in 1984. It is characterized by errors in cell metabolism caused by mutations in nuclear genes, as well as a defective mitochondrial oxidative phosphorylation.   The pathoph[...]

Findings and procedure details: Diagnosis of MELAS syndrome is based on the demonstration of mitochondrial dysfunction and clinical symptoms.       Biochemical examination of blood and CSF shows high concentrations of lactate.   Genetic studies: mitochondrial DNA mutation A3243G (80% aprox) Fig. 1 . &[...]

Conclusion: MELAS syndrome is a poor prognosis disease, sometimes difficult to diagnose. The knowledge of neuroimaging characteristic findings on MRI, MR spectroscopy and MR DWI allows us to suggest and support this diagnosis if clinically suspected but without histologic, biochemical or genetic confirmation.[...]

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References: 1. Lorenzoni PJ, Scola RH, Kamoi Kay CS, Arndt RC, Freund AA, Bruck I, et al. MELAS clinical features, muscle biopsy and molecular genetics. Arq Neuropsiquiatr. 2009;67:668-676. 2. Hiromichi Ito, Kenji Mori, Shoji Kagami. Neuroimaging of stroke-like episodes in MELAS. Brain Dev. 2011;33:283-288. &[...]

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