Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. AJNR Am J Neuroradiol (original) (raw)
Related papers
Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease
AJNR. American journal of neuroradiology, 2003
Mitochondrial diseases are a group of inherited disorders caused by a derangement of mitochondrial respiration. The clinical manifestations are heterogeneous, and the diagnosis is often based on information acquired from multiple levels of inquiry. MR spectroscopy has previously been shown to help detect an abnormal accumulation of lactate in brain parenchyma and CSF in association with mitochondrial disorders, but the frequency of detection is largely unknown. We sought to examine the frequency of detectable elevations of CNS lactate by proton MR spectroscopy in a population of children and young adults with suspected mitochondrial disease. MR spectroscopy data evaluated for the presence or absence of abnormal brain or CSF lactate were compared with other clinical indicators of mitochondrial dysfunction for 29 patients with suspected mitochondrial disease during the years 1990 to 2000. Based on an independent review of the final diagnoses, the patients were divided into groups base...
The Egyptian Journal of Radiology and Nuclear Medicine, 2014
Introduction: Mitochondrial diseases are a group of inherited disorders caused by derangement of mitochondrial respiration. MR spectroscopy (MRS) has been shown to detect abnormal accumulation of lactate in brain parenchyma and CSF in patients with mitochondrial disorders, but the frequency of detection is largely unknown. Aim of the work: To evaluate the role of brain MR spectroscopy in the assessment of suspected mitochondrial diseases in the pediatric age group. Patients and methods: Thirty children with suspected mitochondrial diseases were examined by MRS. Examination was done using multisection technique and multiple echo times mainly short (35 ms) and intermediate (144 ms). Mitochondrial disease criteria scoring system was used to confirm the suspected diagnosis. Results: All patients showed elevated lactate peak with the CSF being the most sensitive (100%). Among the 30 patients, 26 (86.7%) had elevated levels of blood lactate/pyruvate ratio. Conventional MRI showed highly suggestive features in 15 patients while non specific findings were detected in 11 patients and 4 showed normal appearing brain. Conclusions: MRS provides a noninvasive tool for the diagnosis of mitochondrial diseases, especially in children with non specific findings on MRI, normal appearing MRI or a normal blood lactate/pyruvate ratio.
Lactate Detection by MRS in Mitochondrial Encephalopathy: Optimization of Technical Parameters
Journal of Neuroimaging, 2008
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.
The use of neuroimaging in the diagnosis of mitochondrial disease
Developmental Disabilities Research Reviews, 2010
Mutations in nuclear and mitochondrial DNA impacting mitochondrial function result in disease manifestations ranging from early death to abnormalities in all major organ systems and to symptoms that can be largely confined to muscle fatigue. The definitive diagnosis of a mitochondrial disorder can be difficult to establish. When the constellation of symptoms is suggestive of mitochondrial disease, neuroimaging features may be diagnostic and suggestive, can help direct further workup, and can help to further characterize the underlying brain abnormalities. Magnetic resonance imaging changes may be nonspecific, such as atrophy (both general and involving specific structures, such as cerebellum), more suggestive of particular disorders such as focal and often bilateral lesions confined to deep brain nuclei, or clearly characteristic of a given disorder such as stroke-like lesions that do not respect vascular boundaries in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS). White matter hyperintensities with or without associated gray matter involvement may also be observed. Across patients and discrete disease subtypes (e.g., MELAS, Leigh syndrome, etc.), patterns of these features are helpful for diagnosis. However, it is also true that marked variability in expression occurs in all mitochondrial disease subtypes, illustrative of the complexity of the disease process. The present review summarizes the role of neuroimaging in the diagnosis and characterization of patients with suspected mitochondrial disease.
Molecular Genetics and Metabolism, 2008
Cerebellar ataxia is known to occasionally occur in the course of mitochondrial disorders. We report on MR spectroscopy (1H MRS) evidence of elevated brain lactate in the cerebellar area of 11 patients with cerebellar ataxia ascribed to mitochondrial respiratory chain deficiency (RCD). 1H MRS spectroscopy evidence of lactate peak was found in the cerebellum of 9/11 cases, while no lactate
American Journal of Roentgenology, 1996
The purpose of this study was to describe the imaging characteristics of mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome. MATERIALS AND METHODS. Twelve CT scans and 15 MR images were retrospectively reviewed in seven patients with proven MELAS syndrome. Follow-up studies were performed in all patients, and the total follow-up period ranged from 3 months to 3 years. Images were analyzed in terms of lesion distribution, enhancement pattern, presence of mass effect or atrophy, calcification, and changes on follow-up studies. RESULTS. CT and MR imaging showed multiple cortical and subcortical infarctllke lesions, which crossed vascular boundaries, and various degrees of generalized cerebral and cerebeilar atrophy. Lesions were distributed in the posterior, parietal, and occipital areas in six patients, the putamen in five, the caudate nucleus in two, the thalamus in two, the frontal lobe in two, the globus pallidus in one, and the brainstem in one. Contrast enhancement
The in-depth evaluation of suspected mitochondrial disease
Molecular Genetics and Metabolism, 2008
Mitochondrial disease confirmation and establishment of a specific molecular diagnosis requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial disease, multi-organ system manifestations, and an ever increasing spectrum of recognized phenotypes represent the main diagnostic challenges. To overcome these obstacles, compiling information from a variety of diagnostic laboratory modalities can often provide sufficient evidence to establish an etiology. These include blood and tissue histochemical and analyte measurements, neuroimaging, provocative testing, enzymatic assays of tissue samples and cultured cells, as well as DNA analysis. As interpretation of results from these multifaceted investigations can become quite complex, the Diagnostic Committee of the Mitochondrial Medicine Society developed this review to provide an overview of currently available and emerging methodologies for the diagnosis of primary mitochondrial disease, with a focus on disorders characterized by impairment of oxidative phosphorylation. The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease.