The authors present a stepbystep approach to evaluate mri findings in adult patients suspected of having leukodystrophy. Original article, report by the journal of pediatric research. The otolaryngological manifestations of mitochondrial. The disease belongs to a family of conditions called the leukodystrophies. Hla genes influence disease severity inferred by 1 hmr spectroscopy and mri measures. Recent advances in diagnostic neuroradiology is designed to complement the general textbooks of neuroradiology by documenting and discussing the progress that has been achieved. Clinical, neuroimaging, and genetic features of the. Magnetic resonance of myelination and myelin disorders. Management mainly involves control of seizures when they are present.
Magnetic resonance is an essential tool to study brain diseases. We report widespread restricted diffusion in the white matter and increased diffusion in bilateral putamen in a case of ga1. We report three cases of l2hydroxyglutaric acidemia and three cases of canavan disease. Brain magnetic resonance imaging mri demonstrates nonspecific subcortical white matter wm loss, cerebellar atrophy and changes in dentate nuclei and putamen steenweg et al. The mri changes seen are bilateral and symmetrical, as would be expected from a neurometabolic disorder. Although conventional magnetic resonance imaging mri findings of glutaric aciduria type 1 ga1 have been well established, diffusion weighted mr imaging dwi and proton mr spectroscopy mrs findings are limited. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor eif2b. Magnetic resonance spectroscopic characteristics of glutaric. Email your librarian or administrator to recommend adding this book to your organisations collection.
Proton magnetic resonance spectroscopy of the central nervous. Glutaric aciduria type i gai is a cerebral organic aciduria caused by inherited deficiency of glutarylcoa dehydrogenase and is characterized biochemically by an accumulation of putatively. With conventional magnetic resonance imaging, it may be useful in the diagnosis and evaluation of glutaric aciduria type 1. Mckinstry, md, professor of radiology and senior vice chair for the division of diagnostic imaging, traveled to south africa as part of the anne g. This book is a printed edition of the special issue nuclear magnetic.
Mrs theory, practice and applications emagres books. A provisional diagnosis of postmeningitis hydrocephalus was arrived at by the clinical team, for which the child was referred for magnetic resonance imaging mri. Magnetic resonance spectroscopy diagnosis of neurological. Selective necrosis of the globus pallidus is an important mri finding in mma. L2hydroxyglutaric aciduria, magnetic resonance spectroscopy. Health, general children causes of development and progression diagnosis diseases diagnostic imaging encephalopathy inborn errors of metabolism complications and side effects medical. Magnetic resonance spectroscopy mrs is a magnetic resonance imaging mri application that we aim to utilise in lung cancer for the first time at a higher magnetic field strength 3 tesla. Magnetic resonance imaging, microscopy, and spectroscopy of the central nervous system in experimental animals istvan pirko, stanley thomas fricke, aaron j. The book covers over 70 clinical cases and more than 100 spectra that enhance skills at interpreting mrs, including minimizing errors, highlighting artifacts, and.
Clinical, genetic and magnetic resonance findings in an italian patient affected by l2hydroxyglutaric aciduria. Mri and in vivo spectroscopy of the brain springerlink. The l2hydroxyglutaric acidemia cases are the first biochemically proven turkish cases. The diagnosis is highlighted by increased levels of l 2hg in body fluids such as urine and cerebrospinal fluid. A nucleus with an odd number of protons, an odd number of neutrons, or both, has a nuclear spin that can be observed by the nmr spectrometer. Health, general brain diseases diagnosis magnetic resonance imaging usage object recognition computers analysis pattern recognition pattern recognition computers. Objective to report the nature and extent of hearing loss and other otolaryngological problems in patients with mitochondrial disease, and to document the risk of neurodegeneration with infection.
Carbon c nuclear magnetic resonance most commonly known as carbon nmr or c nmr or sometimes simply referred to as carbon nmr is the application of nuclear magnetic resonance nmr spectroscopy to carbon. L2hydroxyglutaric aciduria is a leukoencephalopathy with a consistent and characteristic mri pattern that should strongly suggest the diagnosis 3,4,6. Magnetic resonance spectroscopy mrs provides useful information. These include the early intervention of therapeutic strategies leading to a reduction in morbidity and mortality, and the releasing of economic resources within overburdened health care system. Unfortunately, the knowledge of the biochemistry and metabolic properties of eye tissues varies. Magnetic resonance spectroscopy diagnosis of neurological diseases crc press book demonstrates how mrs offers a useful tool for the noninvasive biochemical analysis of the brain.
With conventional magnetic resonance imaging, it may be useful in the diagnosis and evaluation of glutaric aciduria type 1 patients. Exploring the potential use of a wellestablished xray contrast agent for mri. Mri revealed an extensive white matter disease in a 10 year old boy. Report by journal of evolution of medical and dental sciences. Our objective was to reveal the biochemical differences between main tissue components of human eyes. We present the results of multislice proton mr spectroscopy and diffusionweighted imaging of the brain in two patients with methylmalonic acidemia. Magnetic resonance imaging and magnetic resonance spectroscopy features authors. Organic acidurias oads are inherited neurometabolic diseases usually caused by deficiencies in enzymes involved in amino acid catabolism. The technique is based on the same physical principles as magnetic resonance imaging mri and the detection of.
Tpeac can monitor the process of ld accumulation in cells, thus making it potential for the diagnosis of earlystage fatr. Magnetic resonance imaging, microscopy, and spectroscopy. Propionic acidemia, also known as propionic aciduria or propionylcoa carboxylase deficiency pcc deficiency, is a rare autosomal recessive metabolic disorder, classified as a branchedchain organic acidemia. Biochemical and genetic analysis of 3methylglutaconic aciduria type iv. Proton magnetic resonance spectroscopy 1hmrs is one such technique which.
We are indebted to tions,we can say that much of what was said there still all. Proton 1h mr spectroscopy is most commonly used since hydrogen nucleus is. Osborn asnr international outreach professor program. Diagnostic testing in epilepsy genetics clinical practice. A new nearinfrared aie luminogen tpeac with high specificity, good biocompatibility and excellent photostability is designed and synthesized for lipid droplet ld imaging in cells. Imaging, therefore, has an important role to play as the mri features can be characteristic. Pdf clinical, genetic and magnetic resonance findings in. Unravelling the complex mri pattern in glutaric aciduria. Tools for neuroscience research and emerging clinical applications is the first comprehensive book for nonphysicists that addresses the emerging and exciting technique of magnetic resonance spectroscopy. Jcdr inborn errors of metabolism, radiograph, ultrasound. Medulloblastomas are the most common malignant brain tumor of childhood. It is analogous to proton nmr 1 h nmr and allows the identification of carbon atoms in an organic molecule just as proton nmr identifies. Our thanks go to our colleagues at the vu univer preface to the third edition sity medical center and to those in other hospitals reading through the prefaces of the two previous edi who referred their patients to us.
Clinical and magnetic resonance imaging features of l2. Biomedical spectroscopy and imaging bsi is a multidisciplinary journal devoted to the timely publication of basic and applied research that uses spectroscopic and imaging techniques in different areas of life science including biology, biochemistry, biotechnology, bionanotechnology, environmental science, food science, pharmaceutical science, physiology and medicine. Glutaric aciduria type 1 radiology reference article. Magnetic resonance spectroscopy mrs is a noninvasive technique that can be used to measure the concentrations of different chemical components within tissues. Hypertrophic olivary degeneration is a rare form of neuronal degeneration that results from disruption of the afferent fibres to the inferior olive within the dentatorubroolivary tract, otherwise known as the triangle of guillainmollaret. Clinical, neuroimaging, and genetic features of the patients with l2hydroxyglutaric aciduria. In conclusion, proton magnetic resonance spectroscopy provides a tool for assessing metabolic disturbances and the extent of brain damage noninvasively in ga1. Handbook of magnetic resonance spectroscopy in vivo. Mri at the same time showed bilateral symmetric t2 hyperintensities involving globus pallidi figure, a and b. It has a highly variable clinical presentation, and laboratory investigations are not always diagnostic.
The main feature of this disorder is metabolic acidosis, which is useful in differentiating it from nonketotic hyperglycinemia. Leukodystrophies usually affect children, but in the last several decades, many instances of adult leukodystrophies have been reported in the medical literature. Diffusionweighted mr imaging and mr spectroscopy in. They most commonly present as midline masses in the roof of the 4th ventricle with associated mass effect and hydrocephalus. Leukoencephalopathy with vanishing white matter wikipedia. Nuclear magnetic resonance spectroscopy nmr is the most powerful tool available for structural determination. Unravelling the complex mri pattern in glutaric aciduria type i using statistical modelsa cohort study in 180 patients article in journal of inherited metabolic disease 375 may 2014 with 37. Progress in nuclear magnetic resonance spectroscopy, 2017, 101. Biochemistry and molecular biology education is an international journal aimed to enhance teacher preparation and student learning in biochemistry, molecular biology, and related sciences such as biophysics and cell biology, by promoting the. Proton 1 h mr spectroscopy is most commonly used since hydrogen nucleus is. Propionic acidemia is a disorder of organic acid metabolism with recessively inheritance, characterized by a spectrum of clinical and biochemical manifestations.
Bilateral hypertrophic olivary nucleus degeneration on. The followup mri in the 10yearold boy, who presented earlier with isolated febrile seizures, showed mild abnormalities in the deep white matter. Purchase individual online access for 1 year to this journal. The findings consisted of restricted diffusion and elevated lactate in. Magnetic resonance spectroscopy fabry disease white matter abnormality glutaric aciduria type canavan disease these keywords were added by machine and not by the authors.
Magnetic resonance spectroscopy 1st edition elsevier. Magnetic resonance imaging of the brain showed features of congenital bilateral perisylvian cortical disorganization suggestive of polymicrogyria. In vivo magnetic resonance spectroscopy mrs is a specialized technique associated with magnetic resonance imaging mri. Multislice proton mr spectroscopy and diffusionweighted. Glutaric aciduria type 1 is a leukodystrophy that can be subclassified as an organic acidopathy. The twoweek volunteer program is available to senior members of the american society of neuroradiologists asnr who are interested in teaching. Divided into three sections, this book provides coverage of the key areas of concern for researchers. Patients present a very slowly progressive deterioration with cerebellar ataxia, mild or severe mental retardation, and various other clinical signs including extrapyramidal and pyramidal symptoms, and seizures goffette et al.
This process is experimental and the keywords may be updated as the learning algorithm improves. Clinical applications of magnetic resonance spectroscopy. The in vivo mr spectroscopy findings are typical for selected iems. The human eye is a complex organ whose anatomy and functions has been described very well to date.
Children with ga1 are reported to be predisposed to subdural hematoma sdh development due to stretching of cortical veins secondary to cerebral atrophy and expansion of csf spaces. Biochemically it is characterized by pro found nonketotic hypoglycemia, metabolic acidosis, and organic dicarboxylic aciduria featuring variable combi nations of organic acids including short chain volatile acids isovaleric, isobutyric, 2methylbutyric, glutaric, ethylmalonic, 3hydroxyisovaleric, 2hydroxyglutaric, 5hydroxyhexanoic, adipic, suberic, sebacic, and dodeca. Mri in paediatric inherited metabolic brain disorders. A nearinfrared aiegen for specific imaging of lipid.
The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. Magnetic resonance spectroscopy mrs of a 12yearold female patient with glutaric aciduria type ii was compared with data obtained from four healthy age. Even though the diagnosis of inherited metabolic diseases is achieved by means of biochemical and genetic tools, brain magnetic resonance imaging mri is useful for detecting brain complications i. Biomedical spectroscopy and imaging volume 2, issue 1. Handbook of 1hnmr spectroscopy in inborn errors of metabolism. Glutaric aciduria type 1 ga1 is a rare metabolic disorder of glutarylcoadehydrogenase enzyme deficiency. Her research interests are advanced mri techniques including but not limited to diffusion tensor imaging dti, tractography, and mr spectroscopy. Nuclear magnetic resonance spectroscopy mdpi books. Mrs allows nuclear magnetic resonance spectra to be obtained from userdefined regions of interest rois within body tissues.
Methylmalonic acidemia is an inborn disorder of amino acid metabolism that commonly presents with neurologic deficits. Aspartoacylase deficiency and nacetylaspartic aciduria in patients with canavan disease. Clinical application of mr spectroscopy in identifying biochemical. Diagnostic neuroradiology is undergoing such rapid change that standard texts are quickly becoming outdated in important respects.
Article pdf available in neurological sciences 321. Leukoencephalopathy with vanishing white matter vwm disease is an autosomal recessive neurological disease. We present a case of a 3yearold boy adopted 3 months before the onset of alternating hemiplegia events, with development delay, had investigation with mri and urinary organic acid suggestive of msud. The ability to diagnose the early onset of disease, rapidly, noninvasively and unequivocally has multiple benefits. Magnetic resonance imaging findings in the cases and similarities between the. Feasibility of magnetic resonance spectroscopy in lung. Neurological manifestations of organic acidurias nature. Nevertheless, the accurate characterization of brain lesions with mr imaging remains. Because of the metabolism of d2hydroxyglutaric aciduria, we regard valproic acid as contraindicated in the treatment of epilepsy in this disease. Selection of tests is usually based on a diagnostic hypothesis and requires specialized knowledge in iem. Clinical images of an 8year old boy with glutaric aciduria type 1 showing a macrocrania, b hypotonia and inability of the child to sit without support. Purchase magnetic resonance spectroscopy 1st edition. L2hydroxyglutaric aciduria radiology reference article. The aim of the present study is to draw attention to the rare association of maple syrup urine disease and alternating hemiplegia.
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