Alves Cesar Augusto,  Teixeira Sara,  Martin-saavedra Juan,  Goncalves Fabricio,  Goldstein Amy,  Andronikou Savvas,  Ganetzky Rebecca,  Vossough Arastoo

Final Pr. ID: Paper #: 167

Primary mitochondrial disorders (PMD) in newborns can be misdiagnosed as hypoxic-ischemic encephalopathy (HIE), clinically and radiologically. The purpose of this study is to describe the frequency and patterns of brain MRI findings in children with PMD diagnosed during the neonatal period. Read More

Authors:  Alves Cesar Augusto , Teixeira Sara , Martin-saavedra Juan , Goncalves Fabricio , Goldstein Amy , Andronikou Savvas , Ganetzky Rebecca , Vossough Arastoo

Keywords:  Newborn, mitochondrial disorders, Mitochondrial

Nikam Rahul,  Kandula Ashrith,  Krishnan Vijay,  Donuru Achala

Final Pr. ID: Poster #: EDU-047

Mitochondrial diseases are a heterogeneous group of disorders caused by defects in intracellular energy production. Due to this heterogeneity, it is not surprising that multiple systematic approaches to diagnosis exist; all of which use a combination of clinical, biochemical and structural criteria. Several distinct syndromes have been recognized with variable clinical and imaging phenotypes, including Leigh's syndrome, Kearns-Sayre syndrome (KSS), mitochondrial encephalopathy with lactic acidosis and strokelike episodes (MELAS). In this exhibit, we discuss imaging morphology of various mitochondrial disease with emphasis on imaging protocol and diagnostic approach. Read More

Authors:  Nikam Rahul , Kandula Ashrith , Krishnan Vijay , Donuru Achala

Keywords:  Mitochondrial diseases, Leigh, MELAS

Goncalves Fabricio,  Wang Dah-jyuu,  Goldman-yassen Adam,  Martin-saavedra Juan,  Alves Cesar Augusto,  Teixeira Sara,  Andronikou Savvas,  Vossough Arastoo

Final Pr. ID: Paper #: 162

Proton MRS (1H-MRS) is a technique to non-invasively study brain metabolites in vivo. 1H-MRS has been shown to detect abnormal brain accumulation of lactate in primary mitochondrial disorders (PMDs). However, differences in lactate concentration among the different PMDs have not been explored. We aimed to explore differences in quantitative 1H-MRS derived metabolite concentrations, particularly of lactate, and their ratios, in PMDs. We analyzed quantitative 1H-MRS data of the brain in pediatric patients with different types of genetically confirmed PMDs to evaluate differences in metabolite concentration and ratios. Read More

Authors:  Goncalves Fabricio , Wang Dah-jyuu , Goldman-yassen Adam , Martin-saavedra Juan , Alves Cesar Augusto , Teixeira Sara , Andronikou Savvas , Vossough Arastoo

Keywords:  MR Spectroscopy, Mitochondrial, LCModel