Tuberous sclerosis: evaluation of intracranial lesions
|
|
- Jeffrey Warner
- 6 years ago
- Views:
Transcription
1 Neuroradiology/Pictorial Essay Tuberous sclerosis: evaluation of intracranial lesions J. Docampo*, M. Cabrini, C. Bruno and C. Morales. Fundación Científica del Sur, Lomas de Zamora, Province of Buenos Aires, Argentina Received: May 2013; Accepted: September SAR Abstract Tuberous sclerosis is a neurocutaneous disease characterized by the clinical triad (Vogt triad) of mental retardation, seizures and skin lesions (sebaceous adenoma). It is also characterized by typical intracranial findings that lead to this diagnosis. The aim of this pictorial essay is to describe and provide examples of intracranial findings characteristic of tuberous sclerosis using images from our case series. Keywords: cortical tubers; subependymal hamartomas; intracranial lesions; neurocutaneous disease Introduction The objective of this pictorial essay is to describe and provide examples of intracranial imaging findings of tuberous sclerosis (TS) extracted from our case series. Tuberous sclerosis is a neurocutaneous syndrome formerly described by Bourneville in (also known as Bourneville disease). This entity is an inherited autosomal dominant disease caused by mutation or deletion of two genes: one on chromosome 9, known as TSC1, and the other one on chromosome 16, known as TSC2 2. This neurocutaneous disease is characterized by the presence of a clinical triad (Vogt triad) of mental retardation, seizures and skin lesions (sebaceous adenoma, also called facial angiofibroma). All three signs are present in 30% of the cases. Diagnosis of the tuberous sclerosis complex (TSC) is made on the basis of clinical features, using major and minor diagnostic criteria 3 (table 1). Based on these parameters, clinical diagnosis is considered to be: Definite: when either two major criteria or one major criterion with two minor criteria are met. Probable: when one major criterion and one minor criterion are met. Possible: when wither 1 major criterion or two or more minor criteria are met. In our study, only intracranial findings are detailed. Within neurological signs and symptoms, seizures are the most common (82%). Seizures may be of any type except the so called petit mal (absence seizures). Mental retardation occurs in 48% of cases and it may be very severe, mainly in patients who had a very early seizure onset. Table 1: Diagnostic criteria for tuberous sclerosis 3. Major Criteria Age at onset Facial angiofibroma Infancy to adulthood Ungual fibroma Adolescence to adulthood Shagreen patch Infancy Hypomelanotic macule Infancy Cortical tuber Fetal life Subependymal hamartoma Childhood to adolescence Subependymal giant-cell astrocytoma Infancy to adolescence Retinal hamartoma Infancy Cardiac rhabdomyoma Fetal life Renal angiomyolipoma Childhood to adulthood Lymphangiomyomatosis Adolescence to adulthood Minor criteria Multiple pits in dental enamel Hamartomatous rectal polyps Bone cysts Cerebral white-matter radial migration lines Gingival fibromas Retinal achromic patch Confetti skin lesions (groups of small, lightly pigmented spots) Multiple renal cysts 275
2 Tuberous sclerosis: evaluation of intracranial lesions There is a correlation between the number and volume of cortical tubers, the age of onset of seizures and the degree of mental retardation: the earlier cortical tubers develop the earlier seizures occur, hence, the greater degree of mental retardation. The number and anatomic location of cortical tubers may play an important role in the development of mental retardation 4. However, some individuals with TS never had seizures and have a normal intelligence quotient. In addition, other neurological findings may occur, such as hyperactivity, behavioral abnormalities, autism and attention deficit. Development The main cerebral abnormality in TS is related to dysplastic stem cells, which give rise to dysplastic glia and neurons that are unable to differentiate, migrate or organize properly 5. Subependymal hamartomas Subependymal hamartomas, also known as subependymal nodules, are small lesions which histologically consist of giant cells with features of neurons and astrocytes. These hamarto- a Figure 1 Axial CT scan of a one-year-old male patient that shows hyperdense, calcified small nodules of subependymal location, consistent with subependymal hamartomas and cortical hypodense images consistent with tubers. b Figure 2 MRI on axial T1-weighted sequence without contrast agent (a) and with gadolinium (b) in a 2-year-old male patient with a subependymal hamartoma that enhances after contrast administration (arrow). 276
3 J. Docampo et al. Figure 3 Axial MRI in a 7-year-old female patient. The scan shows a large, ovoid and solid intraventricular mass located on the right lateral ventricle. The mass is hyperintense on T2, isointense on T1 and is significantly enhanced after the administration of paramagnetic contrast agents. This image is consistent with a subependymal giant cell astrocytoma. Figure 4 Cortical tubers. The axial T2-weighted image shows a hyperintense lesion on the left frontal subcortical white matter involving two adjacent gyri and called sulcal island (black arrow). The coronal T2-weighted image sows a hyperintense lesion located in the core of an expanded gyrus, called gyral core (white arrow). 277
4 Tuberous sclerosis: evaluation of intracranial lesions mas are located on the wall of the lateral ventricles and their appearance on computed tomography (CT) and magnetic resonance imaging (MRI) varies with the age of the patient. Their size is variable, but no greater than 10 mm in diameter. On CT scans, subependymal hamartomas are isodense to the white matter, but in older patients they may calcify and become hyperdense (fig. 1). Even if hamartomas calcify progressively during the first two decades of life, a calcified nodule is hardly found in patients younger than 1 year of age. Regarding the location of hamartomas, they either protrude into the lateral ventricles or are embedded in the contour of the caudate nuclei, being bilateral in 95% of the cases. On MRI, subependymal hamartomas in newborns are slightly hyperintense on T1-weighted images compared with the Figure 5 Parenchymal cyst. Cystic lesion, which is hyperintense on T2-weighted image (b) and hypointense on T1-weighted image (a) and FLAIR (c), located in the periventricular white matter, adjacent to the occipital prolongation of the right lateral ventricle (arrows). Figure 6 White matter hamartomas. CT scan and MRI in a 2-year-old patient with a lesion in the white matter located on the left external capsule (arrows). CT scan shows a hyperdense lesion correlated with calcification, while on MRI, the lesion appears hypointense on T2-weighted imaging and hyperintense on T1-weighted imaging. 278
5 J. Docampo et al. white matter and of heterogeneous intensity on T2-weighted images, due to the hypomyelination of the white matter. As myelination occurs, nodules become isointense to the white matter on T1- and T2-weighted images. If they calcify, they are markedly hypointense on gradient echo sequences (GRE). Post-contrast paramagnetic uptake is variable (fig. 2), with an absence of enhancement being more frequent 1,2. Subependymal astrocytomas Subependymal giant cell astrocytomas are histologically benign tumors formed by giant cells which present features of astrocytes and neurons. The age of onset is between 8 and 18 years old, and their typical location is near the foramen of Monro. Subependymal astrocytomas may cause obstructive hydrocephaly. Compared with subependymal hamartomas, astrocytomas are larger and tend to grow slowly. Their diagnosis and follow-up are important, because if they grow and produce obstructive hydrocephaly, neurosurgery may be required. On CT and MRI, subependymal astrocytomas are similar to subependymal hamartomas. Despite their larger size, they are usually enhanced by paramagnetic contrast agents, and they may calcify and bleed. Differential diagnosis with subependymal hamartomas is determined by the follow-up of their evolution, since subependymal astrocytomas grow whereas hamartomas do not 1,2. Subependymal astrocytomas may also appear as large heterogeneous intraventricular masses that enhance after intravenous contrast administration (fig. 3). Figure 7 Radial migration lines. FLAIR sequence shows a hyperintense line extending towards the cortex (straight arrows) at the level of the periventricular white matter adjacent to the occipital prolongation of the left lateral ventricle. Parenchymal cysts (curved arrows) are also present. Both findings are characteristic of tuberous sclerosis. Cortical tubers Cortical tubers are benign hamartomatous lesions, which rarely become malignant. They may be single or multiple (more frequent) and they most commonly occur in the frontal lobes, followed by the parietal, occipital and temporal lobes (in decreasing order). Histologically they consist of bizarre giant cells, dense fibrillary gliosis and disorganized myelin sheaths. On CT scan, tubers appear hyperdense in newborns and infants, while adjacent subarachnoid spaces are usually widened. However, they become hypodense throughout years and may also calcify. On MRI, in the first years of life cortical tubers appear slightly hyperintense on T1-weighted sequences with respect to the white matter, and hypointense on T2-weigthed images. As the brain myelinates, tubers become iso-hypointense on T1- weighted images and hyperintense on T2-weighted images. Figure 8 White matter lesion. FLAIR sequence demonstrates a thick hyperintense band extending from the periventricular white matter to the cortex (arrows). Figure 9 The gradient-echo image shows hypointense small nodules on the right lateral ventricle wall, corresponding to calcified subependymal hamartomas (arrows). 279
6 Tuberous sclerosis: evaluation of intracranial lesions FLAIR sequence has an enhanced sensitivity in the diagnosis of cortical tubers both in children and adults. Cortical tubers appear as hyperintense images of diffuse limits at the site where the lesions are located 1,2. When tubers calcify, they often appear hypointense on GRE sequences and slightly hyperintense on T1-weighted images. Some authors divide cortical tubers into two types (fig. 4): gyral core and sulcal island 6-8. A gyral core appears hyperintense on T2-weighted images and hypointense on T1-weighted imaged, located in the inner core of an expanded (widened) gyrus, with a cortex of normal thickness. Sulcal islands are lesions in which the subcortical white matter appears hyperintense on T2-weighted images and iso-hypointense on T1- weighted images, involving two adjacent gyri. Their cortex is of normal thickness. Tubers may also occur in the cerebellum, with similar features as those seen in supratentorial tubers. Cerebellar tubers appear hyperintense on T2-weighted images and iso-hypointense on T1-weighted images. According to various series, these lesions occur in % of cases 9. Parenchymal cysts Even if these lesions are ubiquitous in its location, they are mostly found in the periventricular white matter. The clinical significance of these lesions is unknown 2. On CT scan, parenchymal cysts appear as round hypodense images. On MRI, they appear hyperintense on T2-weighted images and hypointense on T1-weighted images and FLAIR (fig. 5). White matter hamartomas These lesions are formed by giant cells that are 5 to 10 times larger than astrocytes with features of neurons and glial cells. White matter harmartomas are of variable size. While small lesions are punctiform, hyperintense on T2-weighted images and FLAIR, large lesions have various appearances: they can be linear, cuneiform or form a conglomerate. However, the most common appearance is a linear pattern extending from the periventricular region to the cortex, known as radial migration lines. a b c Figure 10 (a) Axial T2-weighted image in a 1-year-old patient with subependymal hamartomas in both lateral ventricles (white arrows), and cortical tubers (circle). (b) On diffusion weighted imaging, subependymal hamartomas are isointense to the white matter (arrows), while on apparent diffusion coefficient, subependymal hamartomas are isointense or slightly hypointense to the white matter (arrows). This might be related to calcification of hamartomas. Cortical tubers are hyperintense on apparent diffusion coefficient (circle), with facilitated diffusion. 280
7 J. Docampo et al. a b Figure 11 Monovoxel Spectroscopy with PRESS sequences, echo time 25ms; (a) normal side and (b) assessment of a cortical tuber, showing a decrease in the N-acetyl aspartate peak, an increase in the myo-inositol peak and a normal choline peak. 281
8 Tuberous sclerosis: evaluation of intracranial lesions On CT scan, these lesions are usually slightly hypodense and may also calcify (fig. 6), while on MRI they are hyperintense on T2-weighted images and FLAIR (figs. 7 and 8). They rarely enhance after contrast administration. Some authors report that these lesions are identical to transmantle cortical dysplasias 10. An increase in myo-inositol has also been found in cortical tubers, which might be explained by the presence of gliosis or immature neurons 13. Subependymal hamartomas cannot be assessed by spectroscopy because of their periventricular location, since the cerebrospinal fluid alters the spectrum. FLAIR and susceptibility-weighted imaging In MRI, FLAIR and GRE sequences play a key role. On the one hand, the FLAIR sequence is more sensitive than T2-weighted imaging for the diagnosis of cortical tubers (which appear as hyperintense with diffuse borders at the subcortical level) and more accurate for identifying white matter lesions. GRE imaging is particularly helpful for diagnosing calcified lesions. Calcium appears as hypointense on GRE sequences, while on all other conventional sequences it may appear with various signal intensities or even be undetected. Nevertheless, new magnetic susceptibility sequences are currently available, known as susceptibility weighted imaging (SWI) and susceptibility weighted angiographies (SWAN), which are more sensitive than echo gradient sequences for the detection of calcification. On GRE sequences, calcified subependymal hamartomas usually appear as hypointense small nodules along the walls of the lateral ventricles (fig. 9). Magnetic resonance diffusion weighted imaging and spectroscopy On diffusion weighted imaging (DWI), cortical tubers show an increase in the apparent diffusion coefficient (ADC), which reflects an expansion of the extracellular space and is due to the presence of astroglyosis and hypomyelination 11. Subependymal hamartomas may, in turn, have changes in diffusion as a result of calcification. These lesions are generally isointense to healthy parenchyma on DWI and ADC (fig. 10). As regards to the magnetic resonance spectroscopy findings in cortical tubers, there is no increase in choline (Cho) that might suggest increased mitosis; instead, there is a significant reduction in the N-actetyl aspartate/creatine (NAA/Cr) and NAA/(Cho+Cr) ratios at the expense of a decrease in NAA (fig. 11). The reduction in NAA is due to the fact that cells forming cortical tubers produce less NAA than neurons 12. Conclusion We should be aware of and keep in mind the typical intracranial findings of tuberous sclerosis, since these constitute the major and minor diagnostic criteria for this disease. The most frequent intracranial findings are subependymal hamartomas and cortical tubers. We should also be aware of the fact that intraventricular giant cell astrocytomas may cause hydrocephaly and that these lesions are usually located near the foramen of Monro, causing its obstruction. Conflicts of interest The authors declare no conflicts of interest. References 1. Hart B, Depper M, Clericuzio C. Síndromes neurocutáneos. En: Orrison WW, editor. Neurorradiología. Madrid: Harcourt; p Barkovich AJ. Facomatosis. En: Barkovich AJ. Neuroimagenología pediátrica. Madrid: Marbán; p Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355: Shepherd CW, Houser OW, Gomez MR. MR fi ndings in tuberous sclerosis complex and correlation with seizure develop ment and mental impairment. AJNR Am J Neuroradiol. 1995;16: Barkovich AJ, Gressens P, Evrard P. Formation, maturation, and disorders of brain neocortex. AJNR Am J Neuroradiol. 1992;13: Griffi ths PD, Martland TR. Tuberous sclerosis complex: the role of neuroradiology. Neuropediatrics. 1997;28: Nixon JR, Houser OW, Gómez MR, Okazaki H. Cerebral tuberous sclerosis: MR imaging. Radiology. 1989;170: Takanashi J, Sugita K, Fujii K, Niimi H. MR evaluation of tuberous sclerosis: increased sensitivity with fl uid-attenuated inversion recovery and relation to severity of seizures and mental retardation. AJNR Am J Neuroradiol. 1995;16: Vaughn J, Hagiwara H, Katz J, Roth J, Devinsky O, Weiner H, Milla S. MRI characterization and longitudinal study of focal cerebellar lesions in a young tuberous sclerosis cohort. AJNR Am J Neuroradiol. 2013; 34: Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol. 1999;20: Fırat AK, Karakaş HM, Erdem G, Yakıncı C, Bıçak U. Diffusion weighted MR fi ndings of brain involvement in tuberous sclerosis. Diagn Interv Radiol. 2006;12: Mukonoweshuro W, Wilkinson I, Griffi ths PD. Proton MR spectro scopy of cortical tubers in adults with tuberous sclerosis complex. AJNR Am J Neuroradiol. 2001;22: Baskin HJ Jr. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol. 2008;38:
Tuberous sclerosis: Evaluation of intracraneal lesions
Tuberous sclerosis: Evaluation of intracraneal lesions Poster No: C-3394 Congress: ECR 2010 Type: Educational Exhibit Topic: Neuro Authors: J R Docampo, M Cabrini, C Morales, C Bruno; Buenos Aires/ AR
More informationTuberous sclerosis: Evaluation of intracraneal lesions
Tuberous sclerosis: Evaluation of intracraneal lesions Poster No.: C-3394 Congress: ECR 2010 Type: Educational Exhibit Topic: Neuro - Your latest results Authors: J. R. Docampo, M. Cabrini, C. Morales,
More informationImaging of tuberous sclerosis complex
Imaging of tuberous sclerosis complex Poster No.: C-0388 Congress: ECR 2015 Type: Educational Exhibit Authors: M. V. Vu#kovi#, N. Menkovic, A. Petkovic, S. Ognjanovic, 1 2 1 1 1 1 1 1 J. Markov, M. Ilic,
More informationSWISS SOCIETY OF NEONATOLOGY. A rare cause of neonatal seizures
SWISS SOCIETY OF NEONATOLOGY A rare cause of neonatal seizures October 2006 2 Hagmann C, Robertson NJ, Centre for Perinatal Brain Research, Institute for Women s Health, University College London, London
More informationDiagnosing TSC by Making Clinical Connections
Diagnosing TSC by Making Clinical Connections TSC = tuberous sclerosis complex. Diagnosing tuberous sclerosis complex: MORE CLUES Definite Diagnosis of Tuberous Sclerosis Complex (TSC) Possible Diagnosis
More informationTeleconference on Tuberous Sclerosis Complex (TSC) Research October 28 th, 2008 and November 11 th, 2008
Wong 1 Teleconference on Tuberous Sclerosis Complex (TSC) Research October 28 th, 2008 and November 11 th, 2008 Sponsored by the Tuberous Sclerosis Alliance Faculty Participants: Elizabeth Henske, MD,
More informationTuberous Esclerosis in different organs
Tuberous Esclerosis in different organs Poster No.: C-1325 Congress: ECR 2013 Type: Educational Exhibit Authors: T. Gamo Jiménez, I. Martin, I. Millán Arredondo, E. Serrano 1 2 2 2 2 2 2 Tamayo, C. García
More informationClinical History. 29 yo woman with polyhydramnios Cardiac mass at fetal ultrasound At 35 weeks, newborn died 30 minutes after delivery
CASE 1 a Clinical History 29 yo woman with polyhydramnios Cardiac mass at fetal ultrasound At 35 weeks, newborn died 30 minutes after delivery Interface between tumor and normal myocardium Smaller well-demarcated
More informationTuberous Sclerosis A Radiological Perspective
November 2001 Tuberous Sclerosis A Radiological Perspective Heather Brandling-Bennett, Harvard Medical School, Year III Tuberous Sclerosis Also referred to as Bourneville s disease or tuberous sclerosis
More informationSPETRUM OF ABDOMINAL IMAGING FINDINGS IN TUBEROUS SCLEROSIS: The common and uncommon manifestations.
SPETRUM OF ABDOMINAL IMAGING FINDINGS IN TUBEROUS SCLEROSIS: The common and uncommon manifestations. Poster No.: C-925 Congress: ECR 204 Type: Educational Exhibit Authors: J. B. Dutra, A. F. D. Melo, E.
More informationCase Report Cystic Meningioma Simulating Arachnoid Cyst: Report of an Unusual Case
Case Reports in Radiology, Article ID 371969, 4 pages http://dx.doi.org/10.1155/2014/371969 Case Report Cystic Meningioma Simulating Arachnoid Cyst: Report of an Unusual Case Docampo Jorge, 1 Gonzalez
More informationSWI including phase and magnitude images
On-line Table: MRI imaging recommendation and summary of key features Sequence Pathologies Visible Key Features T1 volumetric high-resolution whole-brain reformatted in axial, coronal, and sagittal planes
More informationNEURORADIOLOGY. Intracranial Manifestations of Tuberous Sclerosis: A Pictorial Essay. Introduction
NURORIOLOGY M.H. Kharrazi M 1 H.R. Haghighatkhah M¹ M. Noori M 2 M. Sanei Taheri M 1 1. ssistant Professor, epartment of Radiology, Shohada-e-Tajrish Hospital, Shahid eheshti University of Medical Sciences,
More informationTuberous sclerosis with giant renal angiomyolipoma and sclerotic skeletal lesions in a geriatric patient: role of imaging
International Journal of Research in Medical Sciences Nagaraju RM et al. Int J Res Med Sci. 2015 Aug;3(8):2145-2149 www.msjonline.org pissn 2320-6071 eissn 2320-6012 Case Report DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20150346
More informationTuberous Sclerosis Complex
Tuberous Sclerosis Complex A successful transition from the bench to the bedside Mary Kay Koenig, MD The University of Texas Medical School at Houston Children s Memorial Hermann Hospital University of
More informationCASE REPORT. FAMILIAL TUBEROUS SCLEROSIS: A CASE REPORT M. Manjukeshwari 1, S. Chidambaranathan 2
FAMILIAL TUBEROUS SCLEROSIS: A M. Manjukeshwari 1, S. Chidambaranathan 2 HOW TO CITE THIS ARTICLE: M. Manjukeshwari, S. Chidambaranathan. Familial Tuberous Sclerosis: A Case Report. Journal of Evolution
More informationTuberous Sclerosis Complex: Clinical overview
Tuberous Sclerosis Complex: Clinical overview Elizabeth A. Thiele, MD, PhD Director, Carol and James Herscot Center for Tuberous Sclerosis Complex Director, MGH Pediatric Epilepsy Program Professor of
More informationCoexistence of Lymphangioleiomyomatosis and Angiomyolipomas in a Patient of Tuberous Sclerosis Complex: a case report
Chin J Radiol 2003; 28: 329-333 329 Coexistence of Lymphangioleiomyomatosis and Angiomyolipomas in a Patient of Tuberous Sclerosis Complex: a case report FENG-CHI HSIEH 1 KAO-LANG LIU 1 YIH-LEONG CHANG
More informationHerczegfalvi Ágnes. Tuberous sclerosis. Case history. SE. II. sz. Gyermekklinika. Budapest, Febr
Herczegfalvi Ágnes Tuberous sclerosis Case history SE. II. sz. Gyermekklinika Budapest, Febr. 2016. Case history 1. GD. DOB: 05-03-1989 Pre and perinatal history: normal His development was normal till
More informationPrimary Central Nervous System Lymphoma with Lateral Ventricle Involvement
The Open Medical Imaging Journal, 2012, 6, 103-107 103 Open Access Primary Central Nervous System Lymphoma with Lateral Ventricle Involvement Yumi Oie 1,*, Kazuhiro Murayama 1, Shinya Nagahisa 2, Masato
More informationOligodendroglioma: imaging findings, radio-pathological correlation and evolution
Oligodendroglioma: imaging findings, radio-pathological correlation and evolution Poster No.: C-2104 Congress: ECR 2013 Type: Authors: Keywords: DOI: Scientific Exhibit A. Hernandez Castro, M. D. Monedero
More informationRING ENCHANCING LESION BY M.S. HEMHNATH
RING ENCHANCING LESION BY M.S. HEMHNATH A 21 YRS FEMALE CAME WITH H/O HEADACHE AND SEIZURE FOR THE PAST ONE MONTH. NO OTHER FOCAL NEUROLOGICAL DEFICIT. DIFFERENTIAL DIAGNOSIS For this case are Neurocysticerosis
More informationYear 2003 Paper two: Questions supplied by Tricia
question 43 A 42-year-old man presents with a two-year history of increasing right facial numbness. He has a history of intermittent unsteadiness, mild hearing loss and vertigo but has otherwise been well.
More informationCerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study
DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY ORIGINAL ARTICLE Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study SUSANA BORONAT 1,2 ELIZABETH
More informationMR and CT of Tuberous Sclerosis: Linear Abnormalities in the Cerebral White Matter
1029 MR and CT of Tuberous Sclerosis: Linear Abnormalities in the Cerebral White Matter Satoru lwasaki 1 Hiroyuki Nakagawa 1 Kimihiko Kichikawa 1 Akio Fukusumi 1 Yasuharu Watabe 1 Kouji Kitamura 1 Hideaki
More information1 MS Lesions in T2-Weighted Images
1 MS Lesions in T2-Weighted Images M.A. Sahraian, E.-W. Radue 1.1 Introduction Multiple hyperintense lesions on T2- and PDweighted sequences are the characteristic magnetic resonance imaging (MRI) appearance
More informationNeuroradiological, clinical and genetic characterization of new forms of hereditary leukoencephalopathies
Neuroradiological, clinical and genetic characterization of new forms of hereditary leukoencephalopathies Principal Investigator: Dr. Donatella Tampieri, MD, FRCPC, Department of Neuroradiology, Montreal
More informationRole of Diffusion weighted Imaging in the Evaluation of Intracranial Tumors
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) e-issn: 2279-0853, p-issn: 2279-0861.Volume 15, Issue 12 Ver. IX (December. 2016), PP 99-104 www.iosrjournals.org Role of Diffusion weighted Imaging
More informationGeneral History. Sex : female Birth Date : 68 / 02 /10 Date of Admission : 91 /08 / 04
General History Sex : female Birth Date : 68 / 02 /10 Date of Admission : 91 /08 / 04 Chief Complain Epigastric pain with bloody vomitus for 1 day Present Illness This 22 year-old girl is a case of tuberous
More informationTuberous Sclerosis: New Treatment Strategies for an Old Disease
Tuberous Sclerosis: New Treatment Strategies for an ld Disease bjectives History and Diagnostic Criteria for Tuberous Sclerosis Darcy A. Krueger, M.D., Ph.D. Tuberous Sclerosis Clinic and Research Center
More informationNeurocutaneous Syndromes. Phakomatoses
Neurocutaneous Syndromes Phakomatoses Financial Disclosures I have NO SIGNIFICANT FINANCIAL, GENERAL, OR OBLIGATION INTERESTS TO REPORT Neurocutaneous Syndomes Definition Entities Diagnosis/ Presentation
More informationTuberous sclerosis complex is a genetic
60 Journal of the association of physicians of india vol 62 december, 2014 Case Reports A Case Report of Tuberous Sclerosis in Two Generations Chandrakala *, Sharanagouda Patil **, KY Guruprasad *** Abstract
More informationLaura Tormoehlen, M.D. Neurology and EM-Toxicology Indiana University
Laura Tormoehlen, M.D. Neurology and EM-Toxicology Indiana University Disclosures! No conflicts of interest to disclose Neuroimaging 101! Plain films! Computed tomography " Angiography " Perfusion! Magnetic
More informationCT & MRI Evaluation of Brain Tumour & Tumour like Conditions
CT & MRI Evaluation of Brain Tumour & Tumour like Conditions Dr. Anjana Trivedi 1, Dr. Jay Thakkar 2, Dr. Maulik Jethva 3, Dr. Ishita Virda 4 1 M.D. Radiology, Professor and Head, P.D.U. Medical College
More informationComplete Recovery of Perfusion Abnormalities in a Cardiac Arrest Patient Treated with Hypothermia: Results of Cerebral Perfusion MR Imaging
pissn 2384-1095 eissn 2384-1109 imri 2018;22:56-60 https://doi.org/10.13104/imri.2018.22.1.56 Complete Recovery of Perfusion Abnormalities in a Cardiac Arrest Patient Treated with Hypothermia: Results
More informationNew Hope for Management of Tuberous Sclerosis. Anil Kapoor, MD, FRCSC Professor of Surgery (Urology), McMaster University Hamilton, Ontario
New Hope for Management of Tuberous Sclerosis Anil Kapoor, MD, FRCSC Professor of Surgery (Urology), McMaster University Hamilton, Ontario Tuberous Sclerosis Complex (TSC) Incidence 1:6000 Genetic disorder
More informationInfratentorial and Intraparenchymal Subependymoma in the Cerebellum: Case Report
Case Report Neuroimaging and Head and Neck http://dx.doi.org/10.3348/kjr.2014.15.1.151 pissn 1229-6929 eissn 2005-8330 Korean J Radiol 2014;15(1):151-155 Infratentorial and Intraparenchymal Subependymoma
More informationPediatric CNS Tumors. Disclosures. Acknowledgements. Introduction. Introduction. Posterior Fossa Tumors. Whitney Finke, MD
Pediatric CNS Tumors Disclosures Whitney Finke, MD Neuroradiology Fellow PGY-6 University of Utah Health Sciences Center Salt Lake City, Utah None Acknowledgements Introduction Nicholas A. Koontz, MD Luke
More informationDiffusion-Weighted and Conventional MR Imaging Findings of Neuroaxonal Dystrophy
AJNR Am J Neuroradiol 25:1269 1273, August 2004 Diffusion-Weighted and Conventional MR Imaging Findings of Neuroaxonal Dystrophy R. Nuri Sener BACKGROUND AND PURPOSE: Neuroaxonal dystrophy is a rare progressive
More informationJoana Ramalho, MD C. Ryan Miller, MD, PhD
Joana Ramalho, MD C. Ryan Miller, MD, PhD Case 1 3 month old baby girl Presented with new onset of seizures Newborn. Questionable blurring of the gray-white junction within the right occipital lobe. Findings
More informationAutosomal Dominant Polycystic Kidney Disease
Case Studies [1] July 01, 2014 By Amar Udare, MBBS [2] Case History: 45-year-old female with vague pain in the abdomen. Case History: A 45-year-old female presented with vague pain in the abdomen. A USG
More informationCASE OF THE WEEK PROFESSOR YASSER METWALLY
CASE OF THE WEEK PROFESSOR YASSER METWALLY CLINICAL PICTURE CLINICAL PICTURE: CLINICAL PICTURE: A 6 years old male patient presented clinically with intractable complex partial seizure. The child is mentally
More informationTumors of the Nervous System
Tumors of the Nervous System Peter Canoll MD. PhD. What I want to cover What are the most common types of brain tumors? Who gets them? How do they present? What do they look like? How do they behave? 1
More informationBrain Tumors. Medulloblastoma. Pilocytic astrocytoma: Ahmed Koriesh, MD. Pathological finding
NeuroPathology Page 8 Brain Tumors Pathological finding Pseudorosette Rosenthal fibers Rosettes Wet Keratin Psammoma bodies Fried egg Tumor Ependymoma, SEGA Pilocytic astrocytoma Medulloblastoma Craniopharyngioma
More informationNeurocutaneous Disorders NEUROFIBROMATOSIS 11/1/2012 NEUROFIBROMATOSIS TYPE1 GENETICS. NEUOFIBROMATOSIS type 1 Cutaneous Manifestations
Neurocutaneous Disorders M Ammar Katerji, MD NEUROFIBROMATOSIS STURGE WEBER SYNDROME INCONTINENTIA PIGMENTI INCONTINENTIA PIGMENTI ACHROMIANS LINEAR SEBACEOUS NEVUS NEVUS UNIS LATERIS KLIPPEL-TRENAUNAY-WEBER
More informationMasses of the Corpus Callosum
Masses of the Corpus Callosum Kesav Raghavan, HMS Year III Dr. Agenda Corpus Callosum Development and Anatomy Our Patient: Clinical Presentation Differential Diagnosis of Masses in the Corpus Callosum
More informationImaging in Epilepsy. Nucharin Supakul, MD Ramathibodi Hospital, Mahidol University August 22, 2015
Imaging in Epilepsy Nucharin Supakul, MD Ramathibodi Hospital, Mahidol University August 22, 2015 Nothing to disclose Outline Role of Imaging and pitfalls Imaging protocol Case scenarios Clinical & Electrophysiologic
More informationIndex. aneurysm, 92 carotid occlusion, 94 ICA stenosis, 95 intracranial, 92 MCA, 94
A ADC. See Apparent diffusion coefficient (ADC) Aneurysm cerebral artery aneurysm, 93 CT scan, 93 gadolinium, 93 Angiography, 13 Anoxic brain injury, 25 Apparent diffusion coefficient (ADC), 7 Arachnoid
More informationBrain AVM with Accompanying Venous Aneurysm with Intracerebral and Intraventricular Hemorrhage
Cronicon OPEN ACCESS EC PAEDIATRICS Case Report Brain AVM with Accompanying Venous Aneurysm with Intracerebral and Intraventricular Hemorrhage Dimitrios Panagopoulos* Neurosurgical Department, University
More informationNEURO IMAGING 2. Dr. Said Huwaijah Chairman of radiology Dep, Damascus Univercity
NEURO IMAGING 2 Dr. Said Huwaijah Chairman of radiology Dep, Damascus Univercity I. EPIDURAL HEMATOMA (EDH) LOCATION Seventy to seventy-five percent occur in temporoparietal region. CAUSE Most likely caused
More informationHypoxic ischemic brain injury in neonates - early MR imaging findings
Hypoxic ischemic brain injury in neonates - early MR imaging findings Poster No.: C-1208 Congress: ECR 2015 Type: Authors: Keywords: DOI: Educational Exhibit E.-M. Heursen, R. Reina Cubero, T. Guijo Hernandez,
More informationCerebro-vascular stroke
Cerebro-vascular stroke CT Terminology Hypodense lesion = lesion of lower density than the normal brain tissue Hyperdense lesion = lesion of higher density than normal brain tissue Isodense lesion = lesion
More informationPosterior fossa tumors: clues to differential diagnosis with case-based review
Posterior fossa tumors: clues to differential diagnosis with case-based review Poster No.: C-0323 Congress: ECR 2017 Type: Educational Exhibit Authors: H. A. Aboughalia, M. Abdelhady; Doha/QA Keywords:
More information3T MRI imaging approach to pediatric epileptic seizures:
3T MRI imaging approach to pediatric epileptic seizures: Poster No.: C-1886 Congress: ECR 2016 Type: Educational Exhibit Authors: J. S. Alaín, E. M. DE LUCAS, J. C. Quintero Rivera, C. Pérez 1 2 3 3 3
More informationHamartomas and epilepsy: clinical and imaging characteristics
Seizure 2003; 12: 307 311 doi:10.1016/s1059 1311(02)00272-8 Hamartomas and epilepsy: clinical and imaging characteristics B. DIEHL, R. PRAYSON, I. NAJM & P. RUGGIERI Departments of Neurology, Pathology
More informationRefractory focal epilepsy: findings by MRI.
Refractory focal epilepsy: findings by MRI. Doctors Nicolás Sgarbi, Osmar Telis Clinical Radiology Department Hospital de Clínicas Montevideo- Uruguay ABSTRACT Epilepsy is one of the most frequent neurological
More informationAttenuation value in HU From -500 To HU From -10 To HU From 60 To 90 HU. From 200 HU and above
Brain Imaging Common CT attenuation values Structure Air Fat Water Brain tissue Recent hematoma Calcifications Bone Brain edema and infarction Normal liver parenchyma Attenuation value in HU From -500
More informationRADIOLOGY TEACHING CONFERENCE
RADIOLOGY TEACHING CONFERENCE John Athas, MD Monica Tadros, MD Columbia University, College of Physicians & Surgeons Department of Otolaryngology- Head & Neck Surgery September 27, 2007 CT SCAN IMAGING
More informationPearls and Pitfalls in Neuroradiology of Cerebrovascular Disease The Essentials with MR and CT
Pearls and Pitfalls in Neuroradiology of Cerebrovascular Disease The Essentials with MR and CT Val M. Runge, MD Wendy R. K. Smoker, MD Anton Valavanis, MD Control # 823 Purpose The focus of this educational
More informationSupratentorial Gangliocytoma Mimicking Extra-axial Tumor: A Report of Two Cases
Supratentorial Gangliocytoma Mimicking Extra-axial Tumor: A Report of Two Cases Ho Sung Kim, MD 1 Ho Kyu Lee, MD 1 Ae Kyung Jeong, MD 1 Ji Hoon Shin, MD 1 Choong Gon Choi, MD 1 Shin Kwang Khang, MD 2 We
More informationTHE ROLE OF IMAGING IN DIAGNOSIS OF SUBDURAL HEMATOMA: REVIEW ARTICLE
THE ROLE OF IMAGING IN DIAGNOSIS OF SUBDURAL HEMATOMA: REVIEW ARTICLE * Dr. Sumendra Raj Pandey, Prof. Dr. Liu Pei WU, Dr. Sohan Kumar Sah, Dr. Lalu Yadav, Md. Sadam Husen Haque and Rajan KR. Chaurasiya
More informationMalformations of cortical development. Clinical and imaging findings.
Malformations of cortical development. Clinical and imaging findings. Poster No.: C-2086 Congress: ECR 2012 Type: Educational Exhibit Authors: I. Alba de Caceres, B. García-Castaño, L. Ibañez, E. Roa,
More informationStructural and functional imaging for the characterization of CNS lymphomas
Structural and functional imaging for the characterization of CNS lymphomas Cristina Besada Introduction A few decades ago, Primary Central Nervous System Lymphoma (PCNSL) was considered as an extremely
More informationMalformations of cortical development. Clinical and imaging findings.
Malformations of cortical development. Clinical and imaging findings. Poster No.: C-2086 Congress: ECR 2012 Type: Educational Exhibit Authors: I. Alba de Caceres, B. García-Castaño, L. Ibañez, E. Roa 1
More informationMRI diagnosis of infantile Alexander disease in a 14 month old African boy
MRI diagnosis of infantile Alexander disease in a 14 month old African boy Nondumiso Dlamini 1*, Vicci du Plessis 2 1. Department of Radiology, Greys' Hospital, Pietermaritzburg Metropolitan Complex, South
More informationRole of proton magnetic resonance spectroscopy in diagnosis of pilocytic astrocytoma in children
Alexandria Journal of Medicine (2012) 48, 131 137 Alexandria University Faculty of Medicine Alexandria Journal of Medicine www.sciencedirect.com ORIGINAL ARTICLE Role of proton magnetic resonance spectroscopy
More informationRing-shaped Lateral Ventricular Nodules Detected with Brain MR Imaging
Magn Reson Med Sci, Vol. 12, No. 2, pp. 105 110, 2013 2013 Japanese Society for Magnetic Resonance in Medicine doi:10.2463/mrms.2012-0044 MAJOR PAPER Ring-shaped Lateral Ventricular Nodules Detected with
More informationNeuromyelitis Optica Spectrum Disorder (NMOSD): Brain MRI findings in patients at our institution and literature review.
Neuromyelitis Optica Spectrum Disorder (NMOSD): Brain MRI findings in patients at our institution and literature review. Poster No.: C-0817 Congress: ECR 2014 Type: Educational Exhibit Authors: G. I. MICHELIN,
More informationNEURO IMAGING OF ACUTE STROKE
1 1 NEURO IMAGING OF ACUTE STROKE ALICIA RICHARDSON, MSN, RN, ACCNS-AG, ANVP-BC WENDY SMITH, MA, RN, MBA, SCRN, FAHA LYNN HUNDLEY, APRN, CNRN, CCNS, ANVP-BC 2 2 1 DISCLOSURES Alicia Richardson: Stryker
More informationMagnetic resonance imaging findings and Spectrum of Etiologies in children epilepsy
Magnetic resonance imaging findings and Spectrum of Etiologies in children epilepsy Poster No.: C-2262 Congress: ECR 2015 Type: Educational Exhibit Authors: B. Alami, L. Tazi, Z. Traoré, M. Y. Alaoui Lamrani,
More informationCase 9511 Hypertensive microangiopathy
Case 9511 Hypertensive microangiopathy Schepers S, Barthels C Section: Neuroradiology Published: 2011, Nov. 3 Patient: 67 year(s), male Authors' Institution Department of Radiology, Jessa ziekenhuis campus
More informationCoexisting MS and Lhermitte-Duclos Disease
Coexisting MS and Lhermitte-Duclos Disease Bria K. Casperson 1, Victor Anaya-Baez 1, Stephen S. Kirzinger 2, Ronald Sattenberg 1, Jens O. Heidenreich 1* 1. Department of Radiology, School of Medicine,
More informationCase 7391 Intraventricular Lesion
Case 7391 Intraventricular Lesion Bastos Lima P1, Marques C1, Cabrita F2, Barbosa M2, Rebelo O3, Rio F1. 1Neuroradiology, 2Neurosurgery, 3Neuropathology, Coimbra University Hospitals, Portugal. University
More informationVariable Appearances of Subacute Intracranial Hematomas on High-Field Spin-Echo MR
1019 Variable Appearances of Subacute Intracranial Hematomas on High-Field Spin-Echo MR John M. Gomori' 2 Robert I. Grossman' David B. Hackney' Herbert I. Goldberg' Robert A. Zimmerman' Larissa T. Bilaniuk'
More informationOutline. Neuroradiology. Diffusion Imaging in. Clinical Applications of. Basics of Diffusion Imaging. Basics of Diffusion Imaging
Clinical Applications of Diffusion Imaging in Neuroradiology No disclosures Stephen F. Kralik Assistant Professor of Radiology Indiana University School of Medicine Department of Radiology and Imaging
More informationPediatric Retroperitoneal Masses Radiologic-Pathologic Correlation
Acta Radiológica Portuguesa, Vol.XVIII, nº 70, pág. 61-70, Abr.-Jun., 2006 Pediatric Retroperitoneal Masses Radiologic-Pathologic Correlation Marilyn J. Siegel Mallinckrodt Institute of Radiology, Washington
More informationAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative
ORIGINAL RESEARCH E. Matsusue S. Sugihara S. Fujii T. Kinoshita T. Nakano E. Ohama T. Ogawa Cerebral Cortical and White Matter Lesions in Amyotrophic Lateral Sclerosis with Dementia: Correlation with MR
More informationNeuroimaging of Tuberous Sclerosis: Spectrum of Pathologic Findings and Frontiers in Imaging
Neuroradiology Pictorial Essay Kalantari and Salamon Neuroimaging of Tuberous Sclerosis Neuroradiology Pictorial Essay Downloaded from www.ajronline.org by 37.44.202.139 on 12/22/17 from IP address 37.44.202.139.
More informationAmyotrophic lateral sclerosis (ALS) is a motor neuron disease
ORIGINL RESERCH S. Ngai Y.M. Tang L. Du S. Stuckey Hyperintensity of the Precentral Gyral Subcortical White Matter and Hypointensity of the Precentral Gyrus on Fluid-ttenuated Inversion Recovery: Variation
More informationInternational Journal of Health Sciences and Research ISSN:
International Journal of Health Sciences and Research www.ijhsr.org ISSN: 2249-9571 Case Report Everolimus: Paradigm Shift in the Management of Tuberous Sclerosis Dr Sabarish Mahalingam 1, Dr P. Z. Wadia
More informationDiscovering the hippocampus with cranial-ct.
Discovering the hippocampus with cranial-ct. Poster No.: C-0378 Congress: ECR 2018 Type: Educational Exhibit Authors: F. Pozo Piñon, A. B. Barba Arce, E. herrera romero, V. 1 2 3 1 3 3 Fernández Lobo,
More informationAstroblastoma: Radiologic-Pathologic Correlation and Distinction from Ependymoma
AJNR Am J Neuroradiol 23:243 247, February 2002 Case Report Astroblastoma: Radiologic-Pathologic Correlation and Distinction from Ependymoma John D. Port, Daniel J. Brat, Peter C. Burger, and Martin G.
More informationApproach to the Genetic Diagnosis of Neurological Disorders
Approach to the Genetic Diagnosis of Neurological Disorders Dr Wendy Jones MBBS MRCP Great Ormond Street Hospital for Children National Hospital for Neurology and Neurosurgery What is a genetic diagnosis?
More informationMR Imaging of Tuberous Sclerosis in Neonates and Young Infants
AJNR Am J Neuroradiol 20:907 916, May 1999 MR Imaging of Tuberous Sclerosis in Neonates and Young Infants Yvonne Baron and A. James Barkovich BACKGROUND AND PURPOSE: The MR imaging appearance of intracranial
More informationNeuropathology Specialty Conference
Neuropathology Specialty Conference March 22, 2010 Case 2 Rebecca Folkerth, MD Brigham and Women s Hospital Children s Hospital Harvard Medical School Clinical History 18-gestational-week fetus found on
More informationDisclosure. + Outline. Case-based approach to neurological emergencies that might present to the ED
Kathleen R. Fink, MD University of Washington 5 th Nordic Emergency Radiology Course May 21, 2015 Disclosure My spouse receives research salary support from: Bracco BayerHealthcare Guerbet Outline Case-based
More informationCase Report. Case Report
AJNR Am J Neuroradiol 26:274 278, February 2005 Case Report Differential Chemosensitivity of Tumor Components in a Malignant Oligodendroglioma: Assessment with Diffusion-Weighted, Perfusion- Weighted,
More informationApplicable Neuroradiology
For the Clinical Neurology Clerkship LSU Medical School New Orleans Amy W Voigt, MD Clerkship Director Introduction The field of Radiology first developed following the discovery of X-Rays by Wilhelm Roentgen
More informationPathologic Analysis of CNS Surgical Specimens
2015 Kenneth M. Earle Memorial Neuropathology Review Pathologic Analysis of CNS Surgical Specimens Peter C. Burger, MD Interdisciplinary Quality Control Familiarity with entities Use of diagnostic algorithm
More informationMagnetic Resonance Imaging. Basics of MRI in practice. Generation of MR signal. Generation of MR signal. Spin echo imaging. Generation of MR signal
Magnetic Resonance Imaging Protons aligned with B0 magnetic filed Longitudinal magnetization - T1 relaxation Transverse magnetization - T2 relaxation Signal measured in the transverse plane Basics of MRI
More information41 year old female with headache. Elena G. Violari MD and Leo Wolansky MD
41 year old female with headache Elena G. Violari MD and Leo Wolansky MD ? Dural Venous Sinus Thrombosis with Hemorrhagic Venous Infarct Acute intraparenchymal hematoma measuring ~3 cm in diameter centered
More informationIntracranial Ganglioglioma: MR, CT,
109 Intracranial Ganglioglioma: MR, CT, and Clinical Findings in 18 Patients Mauricio Castillo 1 Patricia C. Davis 1 Yoshii Takei 2 James C. Hoffman, Jr. 1 Eighteen cases of pathologically proved intracranial
More informationPeter Canoll MD. PhD.
Tumors of the Nervous System Peter Canoll MD. PhD. What I want to cover What are the most common types of brain tumors? Who gets them? How do they ypresent? What do they look like? How do they behave?
More informationEpilepsy in children: Review of the main causes detectable by MRI
Epilepsy in children: Review of the main causes detectable by MRI Poster No.: C-2182 Congress: ECR 2014 Type: Educational Exhibit Authors: A. A. S. M. D. Santos, T. C. R. S. SANTOS, A. Monteiro ; 1 1 1
More informationInfantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report
Nishibayashi et al. Journal of Medical Case Reports 2013, 7:194 JOURNAL OF MEDICAL CASE REPORTS CASE REPORT Open Access Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic
More informationClinics in diagnostic imaging (175)
Singapore Med J 2017; 58(3): 121-125 doi: 10.11622/smedj.2017017 CMEArticle Clinics in diagnostic imaging (175) Vijay Krishnan 1, MD, FRCR, Tze Chwan Lim 1, MBBS, FRCR, Francis Cho Hao Ho 2, MBBS, FRANZCR,
More informationCURIOSITY IS A LIFELONG CONDITION TOO
CURIOSITY IS A LIFELONG CONDITION TOO If you or a loved one has been diagnosed with tuberous sclerosis complex or TSC this booklet will help you get answers. It can also help if you think you may have
More informationCranial Ultrasonography in Maple Syrup Urine Disease
Cranial Ultrasonography in Maple Syrup Urine Disease Giuseppe Fariello, Carlo Dionisi-Vici, Cinzia Orazi, Saverio Malena, Andrea Bartuli, Paolo Schingo, Enza Carnevale, Isora Saponara, and Gaetano Sabetta
More informationIn utero and perinatal hypoxic brain damage
In utero and perinatal hypoxic brain damage G Dekker, MB ChB, MFam Med H B Louw, S Andronikou, MB BCh, FC Rad (SA) M Pienaar, BSc, MB ChB S Hlongwane, MB ChB A Brandt, MB ChB D van der Merwe, MB ChB Department
More information