Lactate detection by MRS in mitochondrial encephalopathy: optimization of technical parameters.
Mitochondriopathies are a heterogeneous group of diseases with variable phenotypic presentation, which can range from subclinical to lethal forms. They are related either to DNA mutations or nuclear-encoded mitochondrial genes that affect the integrity and function of these organelles, compromising adenosine triphosphate (ATP) synthesis. Magnetic resonance (MR) is the most important imaging technique to detect structural and metabolic brain abnormalities in mitochondriopathies, although in some cases these studies may present normal results, or the identified brain abnormalities may be nonspecific. Magnetic resonance spectroscopy (MRS) enables the detection of high cerebral lactate levels, even when the brain has normal appearance by conventional MR scans. MRS is a useful tool for the diagnosis of mitochondriopathies, but must be correlated with clinical, neurophysiological, biochemical, histological, and molecular data to corroborate the diagnosis. Our aim is to clarify the most relevant issues related to the use of MRS in order to optimize its technical parameters, improving its use in the diagnosis of mitochondriopathies, which is often a challenge.
José da Rocha
Antônio
A
Fleury Diagnostic Center, Section of Radiology, São Paulo, Brazil. antonio.rocha@fleury.com.br
Túlio Braga
Flávio
F
Carlos Martins Maia
Antonio
A
Jorge da Silva
Carlos
C
Toyama
Carlos
C
Pereira Pinto Gama
Hugo
H
Kok
Fernando
F
Rodrigues Gomes
Hélio
H
D020739:Brain Diseases, Metabolic, Inborn / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D006801:Humans; D019344:Lactic Acid / Q000134:cerebrospinal fluid*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D017237:Mitochondrial Encephalomyopathies / Q000134:cerebrospinal fluid / Q000175:diagnosis*
D019344:Lactic Acid