Clinical Neuroscience

[Diffusion weighted magnetic resonance imaging of metachromatic leukodystrophy - a case report]

PINTÉR Nándor1, KOLLÁR Katalin2, RUDAS Gábor3, BARSI Péter3

MARCH 25, 2009

Clinical Neuroscience - 2009;62(03-04)

[We present the case of a 7 years old boy with the juvenile form of metachromatic leukodystrophy. Beside conventional sequences, a diffusion-weighted magnetic resonance study was performed. On T2-weighted images a diffuse hyperintensity of the cerebral white matter with a typical tigroid pattern was seen as a well-known characteristics of the disease. No difference was detectable on T2-weighted images between the different cerebral white matter regions. Diffusion study showed low apparent diffusion coefficient values in the temporal and orbitofrontal regions and normal values in other cerebral regions compared to the normal appearing cerebellar white matter, wich is partly consistent with the previously reported data. The results of early diffusion studies of the disease are not straightforward and the physical and biochemical backgrounds of the diffusion properties still remain unknown. The more data we collect, the closer we get to the understaning of the diffusion changes in metachromatic leukodystrophy.]

AFFILIATIONS

  1. Semmelweis Egyetem, Kardiológiai Központ, Képalkotó Diagnosztikai Részleg, Budapest
  2. Heim Pál Gyermekkórház, Neurológiai Osztály, Budapest
  3. Semmelweis Egyetem, MR Kutatóközpont, Budapest

COMMENTS

0 comments

Further articles in this publication

Clinical Neuroscience

[MR imaging of acute disseminated encephalomyelitis and multiple sclerosis in children. A review (in English language)]

PATAY Zoltán

[Inflammatory diseases of the central nervous system (CNS) are relatively rare in children, but their relevance to public health is considerable due to frequent and significant long term morbidity and even mortality. As in adults, acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS) and their variants are the most common entities in this group of pathologies in the pediatric patient population. Recent efforts have focused on establishing standardized diagnostic criteria schemes to facilitate the diagnosis and differential diagnosis of these diseases, however especially with multiple sclerosis those have not been fully validated yet for disease occurring in children. In recent decades the role of MRI has been constantly increasing in the diagnostic work-up of suspected inflammatory diseases of the CNS as well as in the follow-up of patients with confirmed disease. Currently, MRI is the first-line diagnostic imaging modality in ADEM and MS and is fully integrated in the most widely used diagnostic criteria schemes, but it has a key role in clinical therapeutic research trials as well. This paper provides an update on the current concepts and strategies of MRI in inflammatory diseases of the CNS, as well as a review of the imaging semiology of the various disease entities and variants with emphasis on clinical and imaging particularities relevant to the pediatric patient population.]

Clinical Neuroscience

[Account on the 17. Congress of the Hungarian Society of Neuroradiology and on the position of neuroradiology in Hungary today]

BARSI Péter

Clinical Neuroscience

[Current issues of neuroimaging diagnostics of multiple sclerosis]

BAJZIK Gábor

[Magnetic resonance imaging techniques have been routinely used in diagnostics and follow-up of multiple sclerosis and magnetic resonance imaging findings are incorporated into the current diagnostic criteria of the disease. International guidelines were created aiming to define the indication, timing, minimum requirements and interpretation of magnetic resonance examination in multiple sclerosis. In Hungary, there is a lack of widely-accepted standardized protocol, therefore presenting the magnetic resonance diagnostic criteria and the international guidelines may prove useful. It may also point towards consideration of a national guideline.]

Clinical Neuroscience

[Application of diffusion weighted imaging in neuroradiology]

BARSI Péter

[Diffusion weighted magnetic resonance (MR) imaging is available on all modern MR scanners. It depicts the motion of water molecules in the brain tissue and intracranial foreign tissues and provides information on changes in the proportion of intra- and extracellular space and the characteristics of foreign intracranial tissues and fluids. It is of utmost importance eg. in the diagnostics and differential diagnostics of acute ischaemic brain lesions, the diagnostics of inflammatory brain processes and in the differential diagnostics of intracranial space-occupying lesions. The examination method of short scanning and post-processing time must be completed with the apparent diffusion coefficient (ADC) maps and it is indispensable in the everyday neuroradiological diagnostics. Diffusion tensor imaging and tractography are able to depict the white matter tracts. They require a longer scanning and post-processing time and have several technical problems yet to be solved, but they provide help in their current state e.g. in the surgical planning of intracranial space-occupying lesions.]

Clinical Neuroscience

[State of the art neurointerventional treatment of intracranial vascular anomalies]

SZIKORA István, BERENTEI Zsolt, MAROSFŐI Miklós, KULCSÁR Zsolt, GUBUCZ István

[Haemorrhagic stroke is frequently caused by rupture of intracranial vascular anomalies. The role of minimally invasive therapy in the treatment of such lesions has increased dramatically within the past two decades. The purpose of this study is to summarize the pathology and clinical features of these anomalies and to overview the potential applications of neurointerventional techniques in their treatment. Endovascular therapy is the first choice of treatment for most intracranial aneurysms. Both pial and dural arteriovenous malformations are being treated by endovascular techniques, but the combination of different modalities (such as endovascular, direct surgery and radiosurgery) is frequently applied. Capillary malformations require surgical removal and venous anomalies do not allow for any type of invasive treatment. State of the art therapy of intracranial vascular anomalies require institutions equipped with appropriate imaging facilities and having equal access to both conventional neurosurgical and neurointerventional techniques with ample experience and case load.]

All articles in the issue

Related contents

Clinical Neuroscience

[99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders]

ARANKA László, AMBRUS Edit, VÖRÖS Erika, SVEKUS András, KÓBOR Jenõ, BEREG Edit, PALATKA János, PÁVICS László

[The aim of our study was to determine regional cerebral blood flow (rCBF) abnormalities in different types of enzymopathies. Patients and methods - Among the patients with genetically determined enzymopathies 3 patients had aminoacidopathies, and 11 had different types of encephalopathies, from which 10 had mitochondrial encephalomyopathy (MEMP), and 1 patient had hyperuricaemic encephalopathy. Besides the mentioned 14 patients, 1 had ceroid lipofuscinosis and another patient had tuberous sclerosis. The further distribution of the MEMP patients’ group was the following - 5 patients had MEMP with lactic acidosis, 5 had Leigh’s disease (subacute necrotizing encephalopathy), from which 1 had cytochrome-c-oxidase deficiency (COX). Additionally in all patients were performed cerebral MRI and SPECT examination 10 min. after intravenous administration of 20 Mbq/kg 99 mTc-HMPAO. Results - Fourteen out of 16 SPECT findings were pathologic, showing decreased focal frontal/temporal/temporoparietal cerebral blood perfusion. Aminoacidopathic group - all the 3 patients revealed pathologic signs from the aminoacidopathic patients’ group. Among them the ornithine transcarbamylase (OTC) heterozygous female patient with left-sided hemiparesis caused by hyperammonemic stroke at 10 month-age, showed right sided temporoparietal, occipital and left frontal hypoperfusion, nearly 6 years after the cerebral vascular attack. This finding might be resulted because of diaschisis. Mitochondrial encephalo-myopathic (MEMP) group - all the four patients with MEMP and lactic acidosis showed focal hypoperfusion in the temporal region, while the perfusion was normal in the COX deficient patient and in 2 Leigh’s disease (subacute necrotizing encephalopathy) patients. In the remaining 1 Leigh’s patient frontotemporal hypoperfusion was found. In all patients there were non specific structural abnormalities detected by MRI - cortical and subcortical atrophy, and scattered demyelination foci. In the case of ceroid lipofuscinosis the MRI showed cerebral atrophy and cerebellar hypoplasia, and the SPECT showed right frontal and occipital hypoperfusion, bilateral parietal physiological riping process. The patient with tuberous sclerosis showed bilateral temporo-occipital hypoperfusion. Conclusion - 1. SPECT images demonstrated hypoperfusion rCBF changes in 14 out of all 16 patients. 2. Regional cerebral/cerebellar hypoperfusion was detected by SPECT in mitochondrial encephalomyopathies, with lactate acidosis and aminoacidopathies giving high informative value about the cerebral perfusion.]

Clinical Neuroscience

[Severe intracranial hypotension in an adolescent with Marfan syndrome. Case report]

ROSDY Beáta, KOLLÁR Katalin, MÓSER Judit, VÁRALLYAY György, KORDÁS Mariann

[Spontaneous intracranial hypotension is a rare complication of connective tissue disorders. One of them is Marfan syndrome. It predisposes the patient to meningeal diverticula. Possibly after minor unrecognised head trauma or secondary to Valsalva manoeuvre cerebrospinal fluid leak from meningeal diverticula can happen. It causes postural headache. We describe a 15 year old adolescent female newly diagnosed with Marfan syndrome, who presented with intractable postural headache. Our patient's brain MRI showed bilateral frontal subdural effusion, narrow ventricles, downward displacement of the brainstem, enlarged cervical venous plexi, dural ectasias and wide nerve root sleeves. Radionuclide cisternography demonstrated CSF leaks at multiple sites. She could not be treated conservatively, but was successfully treated by epidural saline injections. Control brain and cervical MRI confirmed her healing, too. At the two and half year follow up visit, she was completely well. So we recommend this easiest technic to use before epidural autolog blood patches.]

Clinical Neuroscience

[Neurological and psychiatrical prospects of apathy]

GYURIS Jenő

[During his long practice as head physician of a neurological and psychiatrical department with over 100 beds performed the examination and department of more than a hundred thousand patients. Based on the acquired experience and the data of the most recent literature he treats every aspect of the apathy syndrome. He emphasizes the multidisciplinary approach during both establishing the causes and the examination and treatment of patients. In order to clarify the diagnosis consultations with other disciplines must be used as well as the the knowledge provided by the now essential CT, MRI, PET, SPECT. The author discusses the international therapeutical possibilities and practice after the recently alredy possible exact diagnosis.]

Clinical Neuroscience

[Posterior ischaemic optic neuropathy]

BOÓR Krisztina, KOVÁCS Krisztina, RÓZSA Anikó, PÁNCZÉL Gyula, SZILVÁSSY Ildikó, GÁCS Gyula

[Here one case report of the posterior ischaemic optic neuropathy, a rare and underdiagnosed form of the non arteritic ischaemic optic neuropathy is presented, to underline the value of the MRI in the diagnosis. The ischaemic optic neuropathy is the infarction of the optic nerve. Depending on the affected segment of optic nerve (optic nerve head or retrobulbar segment) two subclasses exist: the anterior (AION) and the posterior (PION) ischaemic optic neuropathy. Ischaemic optic neuropathy characterized by sudden, painless, mononuclear loss of vision, and/or visual field defect, that is accompanied by a diagnostic picture of the optic disc fundus only in the case of the AION. The diagnosis of the PION is based on a diagnosis of exclusion described by Hayreh in 1981. The macular and retinal laesions, the etiological role of toxic agent, the compression and the inflammation of the optic nerve all have to be excluded. The differential diagnosis between the PION and the retrobulbar neuritis is more difficult. Nowadays, in addition to the case history and the clinical data the diagnosis of the PION could be confirmed with help of VEP (visual evoked potential) and MRI. In the case of an old woman who had a sudden, painless visual loss of left eye we confirmed the diagnosis of PION with MRI which was presumed after had excluding other etiological factors.]

Lege Artis Medicinae

[TAKAYASU’S ARTERITIS DETECTED IN AN EARLY PHASE]

SZÁNTÓ Antónia, VEISZ Richárd, KRENÁCS László, CSIKI Zoltán, GRIGER Zoltán, ZEHER Margit

[INTRODUCTION - Takayasu’s arteritis is an idiopathic inflammatory disease of the great elastic arteries, mainly of the aorta and its primary branches. It primarily affects young women. CASE REPORT - A 20-year-old woman presented with general inflammatory symptoms that had begun 3 to 4 months before. Earlier she underwent a biopsy from a mass on the neck thought to be a lymph node, which on histopathological examination turned out to be a non-necrosing granulomatosis in the wall of a large artery. Based on this finding as well as on the presence of fever, weight loss, carotid murmur, anaemia, elevated platelet count, increased sedimentation rate, the lack of pulse and the findings of imaging examinations, Takayasu’s arteritis was diagnosed. Treatment was started with high-dose steroid monotherapy, which resulted in clinical and laboratory remission after a short time. The imaging findings (neck soft tissue sonogram and MRI) also showed improvement, however, a moderate but definite disease activity was still present, thus steroid treatment was supplemented with azathioprin. CONCLUSION - It is important to follow the disease both clinically and with imaging techniques for an early recognition of the need for changing or adjusting the treatment.]