MINOSHIMA CNS Molecular Imaging.Pptx

Total Page:16

File Type:pdf, Size:1020Kb

MINOSHIMA CNS Molecular Imaging.Pptx Molecular Imaging in Neurology Clinic 2019 Perfusion Glucose Dopamine Amyloid Molecular Imaging in CNS Diseases Satoshi Minoshima, MD, PhD Department of Radiology and Imaging Sciences CBF SPECT FDG PET DAT SPECT Amyloid PET University of Utah Current Clinical Applicaons FDGWhich PET patient shows hasmore Alzheimer’s marked abnormalities. disease? • FDG PET – Demena: Alzheimer vs frontotemporal – Epilepsy: Pre-surgical localizaon – Brain tumor: Recurrence vs. necrosis • Amyloid PET – Possible Alzheimer; mild cognive impairment • Dopamine SPECT – Benign tremor vs. neurodegenerave Parkinsonian – Demena: Alzheimer vs. Demena with Lewy bodies Alzheimer’s disease No dementia FDG PET Case: 67 yrs, dementia, MMSE 23/30 J Nucl Med 1995;36:1238-1248 Case: 57 yrs female, impaired word comprehension, agnosia Minoshima et al. 2002 Left Temporal Lobe Epilepsy Left Temporal Lobe Epilepsy Intractable seizure: Pre-surgical FDG PET Statistical Mapping – Z-score Maps Male, 38 years old, memory loss, generalized tonic/clonic seizure Limbic Encephalitis Amyloid PET Robin Smithuis, Radiology Department of the Rijnland Hospital, Leiderdorp, the Netherlands Alzheimer’s Disease Amyloid and Tau PET Neurofibrillary tangle Tau Senile Plaque Amyloid VA North Texas Health System William Jagust et al., Neuron 2016; The Telegraph March 2, 2016 Negative Positive Dose and Imaging Timing Radiotracer Recommended Waiting Period Acquisition Dose/Activity 18F-Florbetapir 370 MBq (10 30-50 minutes 10 minutes mCi) 18F-Florbetaben 300 MBq (8 mCi) 45-130 minutes 20 minutes 18F- 185 MBq (5 mCi) 90 Minutes 20 minutes Flutemetamol Rowe CC and Villemagne VL J Nucl Med 2011;52:1733-1740 Chet Mathis, ALZForum TI-weighted images from old MRI scanner? Is this amyloid PET positive or negative? Is this amyloid PET positive or negative? Negave amyloid PET • Indicates sparse to no amyloid plaques • Inconsistent with a neuropathological diagnosis of AD and reduces the likelihood that a paent's cognive impairment is due to AD. Is this amyloid PET positive or negative? Is this amyloid PET positive or negative? Posive amyloid PET • Indicates moderate to frequent amyloid plaques • This amount of amyloid plaque is present in AD paents, but may also in paents with other neurologic condions & in older people with normal cognion. • A posive scan DOES NOT establish a diagnosis of AD, or other cognive disorder. Appropriate Situations 1) Possible Alzheimer’s disease (AD) with an atypical clinical Imaging Dementia—Evidence for course or an etiologically mixed presentation Amyloid Scanning (IDEAS) Study 2) Unexplained Mild Cognitive Impairment (MCI), persistent and progressive A Coverage with Evidence Development 3) Atypically early age of onset (65 years or less in age) Longitudinal Cohort Study Sponsored by: Alzheimer’s Association Managed by: American College of Radiology American College of Radiology Imaging Network Advisor: Centers for Medicare & Medicaid Services (CMS) IDEAs Aims PET-MRI Scanner: Structure, Amyloid, Perfusion • Aim 1: To assess the impact of Aβ PET imaging on the management of paents meeng Appropriate Use Criteria (AUC) • Aim 2: To assess the impact of Aβ PET imaging on hospital admissions and emergency room visits in paents enrolled in the study cohort over 12 months Drzezga, Barthel, Minoshima, Sabri, J Nucl Med 2014 FDA Approval Jan 2011 Dopamine Transporter SPECT [F-18]DOPA [C-11]DTBZ [F-18]FP-DTBZ [C-11]MPH [I-123]β-CIT [I-123]FP-CIT [I-123]Altropane [Tc-99m]TRODAT [C-11]RAC [I-123]IBF D2 [I-123]IBZM DaTscan: Current Indicaon Parkinsonian Syndrome • • Differenate essenal tremor (ES) from Progressive supranuclear palsy (PSP) Parkinsonian syndrome (idiopathic Parkinson’s • Mulple system atrophy (MSA) disease, mul-system atrophy, and • Demena with Lewy body disease (DLB) progressive supranuclear palsy, etc) • Corco-basal (ganglionic) degeneraon (CBD) • Frontotemporal demena (FTD) • Differenal diagnosis of DLB from AD (Europe) • A rigid variant of Hunngton’s disease • Wilson’s disease • Others “Comma” “Dot” www.fda.gov/downloads/AdvisoryCommittees/.../UCM186404.pdf www.fda.gov/downloads/AdvisoryCommittees/.../UCM186404.pdf Case Most appropriate • findings 66 year old female • Tremor 1. Normal uptake • Family history 2. Decreased uptake in the putamen • Essenal tremor versus Parkinson’s disease 3. Decreased uptake in the caudate nucleus 4. Significant asymmetry Case Most appropriate findings • 65 year old male 1. Normal uptake • Current diagnosis of Parkinson’s disease 2. Decreased uptake • Fine tremor, both hands, gait slowing, rigidity in the putamen 3. Decreased uptake • Worsening motor symptoms in the caudate • MRI microvascular disease nucleus • Quesonable levodopa responsiveness 4. Significant asymmetry Most appropriate Most appropriate findings: findings: 1. Increased 1. Increased background background uptake uptake 2. Normal caudate 2. Normal caudate uptake uptake 3. Decreased 3. Decreased striatal uptake striatal uptake 4. Significant 4. Significant asymmetry asymmetry Different Types of Region of Interest Specific Binding or Binging Potential (simplified) = (striatal uptake – background) / background Morton et al, Nuc Med Commun 2005;26:1139 Morton et al, Nuc Med Commun 2005;26:1139 MR-guided High intensity Focused Ultrasound (HIFU) Summary • Clinically available molecular imaging • Demena, epilepsy, movement disorders • FDG PET and stascal mapping • Amyloid PET and Appropriate Use Criteria • DAT SPECT for movement disorders Dobrakowski, et al., Interv Neuroradiol. 2014;20(3):275-82 New FDA-approved Non-invasive Therapy for Essenal Tremor Salt Lake City – UU, The Temple, Sundance Film Festival, Goldman Sachs, Adobe What the Neurosurgeon Needs to Know • Presurgical Imaging Brain Tumor Imaging: What the Surgeon Needs to Know • Intraoperative Imaging • Postoperative Imaging Sarah T. Menacho, M.D. Assistant Professor of Neurosurgery and Critical Care Brain and Spine Imaging Conference 8/8/2019 Pre-Surgical Imaging Differential Diagnosis • Tumor • Differential Diagnosis • Stroke • What further imaging is recommended • Demyelinating • Imaging interpretation • Vascular Malformation • Radiation Necrosis • Pineal lesions • LMD • Lymphoma When Not To Operate • Admitted to MICU, intubated, on pressors, GCS 11T • 58 year old female presenting with altered mental status, fever, elevated wbc count following recent lumbar fusion surgery • 66 year old male with 1 month of headaches, recently • Pathology: Renal Cell Carcinoma treated for sinus infection without relief • Taken to OR for transsphenoidal biopsy Further Imaging Recommended MR Spectroscopy • fMRI • MR spectroscopy • CTA/DSA • CT C/A/P • Lab Values • LP Imaging Interpretation • 33 year old female with first-time seizure episode • Eloquent cortex • Proximity to vasculature • Extension into the ventricle • Osseous Invasion • All of the above affects my ability to obtain a GTR, and changes how I counsel the patient • fMRI obtained to locate Wernicke’s area • Pathology: AA Intraoperative Imaging • 17 year old female with progressively worsening headaches • OR for right frontal craniotomy and resection of tumor in Postoperative Imaging intraoperative MRI suite • Gross Total Resection? • Complications? • Radiology Humor “Interval placement of right frontal approach ventriculostomy catheter” Some Imaging is Obvious… • 53 year old male found down on the ski slopes at Deer Valley Thank You! Questions? • Karen Salzman, M.D. • Brad Wright, M.D. • Anne Osborne, M.D. • Jeff Anderson, M.D., PhD • Richard Wiggins, M.D. • Chris Davidson, M.D. • Troy Hutchins, M.D. • Edward Quigley, M.D. • Lubdha Shah, M.D. Acute Pediatric CNS Disorders Disclosures • Author – Elsevier, Wolters Kluwer, and CRC Press • Honoraria for teaching • Compensaon Gary L. Hedlund, D.O. – Medical-legal case review & tesmony University of Utah School of Medicine Department of Radiology Salt Lake City, Utah Seizing 4-year-old male Courtesy Dr. Nicholas Satovick DDx Varicella-Zoster Cerebellis • Infectious / Autoimmune • Toxic / Metabolic • Neoplastic • Other Opioid Toxicity Neuroectodermal Tumor Hemophagocyc Heat Stroke Lymphohisocytosis (HLH) Heat Stroke Overview Heat Stroke Risks in Pediatrics • Core body temperature > 40°C • Children and infants are more vulnerable to • Thermoregulatory failure heat stroke! • Multi-organ failure – High surface area : body mass • Signs and symptoms: – Lower proximal to distal heat conductance – severe fatigue, diarrhea, erythematous hot dry skin, – Less robust total sweat producon diaphoresis, nausea, emesis, dizziness, confusion, – Insufficient acclimaon to high heat condions à seizure, weakness, tachycardia inadequate HSP synthesis Heat Shock Proteins and Heat Stress Pathophysiology of Heat Stroke • Heat stress acvates HSP • HSP acvaon: Protects cells from the • Mimics Sepsis – increased metabolic demand, splanchnic hypoperfusion effects of the inflammatory acute-phase hypotension, rhabdomyolysis, hepato-renal failure response • Cytokine elevaon • Biologically adapve • Coagulaon cascade • Other roles of HSPs: • Endothelial-cell injury and diffuse vascular thrombosis – protein translocaon • DIC even aer core temperature normalizaon – apoptosis inhibion • Acvaon of heat shock proteins (HSP) Neuroimaging Spectrum Obtunded 6-year-old male • Several pathophysiological alteraons – Tropism for Purkinje cells • Parenchymal T2 prolongaon • Variable diffusivity alteraons • Occasional hemorrhage – Associated brain injury • Thalami (paramedian nuclei) • Hippocampi • Splenium of corpus callosum • Interarterial watershed zones DDx • ANE/H1N1 • MELAS /
Recommended publications
  • Paternal Factors and Schizophrenia Risk: De Novo Mutations and Imprinting
    Paternal Factors and Schizophrenia Risk: De Novo Mutations and Imprinting by Dolores Malaspina Downloaded from https://academic.oup.com/schizophreniabulletin/article/27/3/379/1835092 by guest on 23 September 2021 Abstract (Impagnatiello et al. 1998; Kao et al. 1998), but there is no consensus that any particular gene plays a meaning- There is a strong genetic component for schizophrenia ful role in the etiology of schizophrenia (Hyman 2000). risk, but it is unclear how the illness is maintained in Some of the obstacles in genetic research in schiz- the population given the significantly reduced fertility ophrenia are those of any complex disorder, and include of those with the disorder. One possibility is that new incomplete penetrance, polygenic interaction (epista- mutations occur in schizophrenia vulnerability genes. sis), diagnostic instability, and variable expressivity. If so, then those with schizophrenia may have older Schizophrenia also does not show a clear Mendelian fathers, because advancing paternal age is the major inheritance pattern, although segregation analyses have source of new mutations in humans. This review variably supported dominant, recessive, additive, sex- describes several neurodevelopmental disorders that linked, and oligogenic inheritance (Book 1953; Slater have been associated with de novo mutations in the 1958; Garrone 1962; Elston and Campbell 1970; Slater paternal germ line and reviews data linking increased and Cowie 1971; Karlsson 1972; Stewart et al. 1980; schizophrenia risk with older fathers. Several genetic Risch 1990a, 1990fc; reviewed by Kendler and Diehl mechanisms that could explain this association are 1993). Furthermore, both nonallelic (Kaufmann et al. proposed, including paternal germ line mutations, 1998) and etiologic heterogeneity (Malaspina et al.
    [Show full text]
  • Bhagwan Moorjani, MD, FAAP, FAAN • Requires Knowledge of Normal CNS Developmental (I.E
    1/16/2012 Neuroimaging in Childhood • Neuroimaging issues are distinct from Pediatric Neuroimaging in adults Neurometabolic-degenerative disorder • Sedation/anesthesia and Epilepsy • Motion artifacts Bhagwan Moorjani, MD, FAAP, FAAN • Requires knowledge of normal CNS developmental (i.e. myelin maturation) • Contrast media • Parental anxiety Diagnostic Approach Neuroimaging in Epilepsy • Age of onset • Peak incidence in childhood • Static vs Progressive • Occurs as a co-morbid condition in many – Look for treatable causes pediatric disorders (birth injury, – Do not overlook abuse, Manchausen if all is negative dysmorphism, chromosomal anomalies, • Phenotype presence (syndromic, HC, NCS, developmental delays/regression) systemic involvement) • Predominant symptom (epilepsy, DD, • Many neurologic disorders in children weakness/motor, psychomotor regression, have the same chief complaint cognitive/dementia) 1 1/16/2012 Congenital Malformation • Characterized by their anatomic features • Broad categories: based on embryogenesis – Stage 1: Dorsal Induction: Formation and closure of the neural tube. (Weeks 3-4) – Stage 2: Ventral Induction: Formation of the brain segments and face. (Weeks 5-10) – Stage 3: Migration and Histogenesis: (Months 2-5) – Stage 4: Myelination: (5-15 months; matures by 3 years) Dandy Walker Malformation Dandy walker • Criteria: – high position of tentorium – dysgenesis/agenesis of vermis – cystic dilatation of fourth ventricle • commonly associated features: – hypoplasia of cerebellum – scalloping of inner table of occipital bone • associated abnormalities: – hydrocephalus 75% – dysgenesis of corpus callosum 25% – heterotropia 10% 2 1/16/2012 Etiology of Epilepsy: Developmental and Genetic Classification of Gray Matter Heterotropia Cortical Dysplasia 1. Secondary to abnormal neuronal and • displaced masses of nerve cells • Subependymal glial proliferation/apoptosis (gray matter) heterotropia (most • most common: small nest common) 2.
    [Show full text]
  • Mutation in Genes FBN1, AKT1, and LMNA: Marfan Syndrome, Proteus Syndrome, and Progeria Share Common Systemic Involvement
    Review Mutation in Genes FBN1, AKT1, and LMNA: Marfan Syndrome, Proteus Syndrome, and Progeria Share Common Systemic Involvement Tonmoy Biswas.1 Abstract Genetic mutations are becoming more deleterious day by day. Mutations of Genes named FBN1, AKT1, LMNA result specific protein malfunction that in turn commonly cause Marfan syndrome, Proteus syndrome, and Progeria, respectively. Articles about these conditions have been reviewed in PubMed and Google scholar with a view to finding relevant clinical features. Precise keywords have been used in search for systemic involvement of FBN1, AKT1, and LMNA gene mutations. It has been found that Marfan syndrome, Proteus syndrome, and Progeria commonly affected musculo-skeletal system, cardiovascular system, eye, and nervous system. Not only all of them shared identical systemic involvement, but also caused several very specific anomalies in various parts of the body. In spite of having some individual signs and symptoms, the mutual manifestations were worth mentio- ning. Moreover, all the features of the mutations of all three responsible genes had been co-related and systemically mentioned in this review. There can be some mutual properties of the genes FBN1, AKT1, and LMNA or in their corresponding proteins that result in the same presentations. This study may progress vision of knowledge regarding risk factors, patho-physiology, and management of these conditions, and relation to other mutations. Keywords: Genetic mutation; Marfan syndrome; Proteus syndrome; Progeria; Gene FBN1; Gene AKT1; Gene LMNA; Musculo-skeletal system; Cardiovascular system; Eye; Nervous system (Source: MeSH, NLM). Introduction Records in human mutation databases are increasing day by 5 About the author: Tonmoy The haploid human genome consists of 3 billion nucleotides day.
    [Show full text]
  • Basilar Invagination: Case Report and Literature Review
    Accepted Manuscript Basilar Invagination: Case Report and Literature Review Nauman S. Chaudhry, MD, Alp Ozpinar, BS, Wenya Linda Bi, MD, PhD, Vamsidhar Chavakula, MD, John H. Chi, MD, MPH, Ian F. Dunn, MD PII: S1878-8750(15)00084-4 DOI: 10.1016/j.wneu.2015.02.007 Reference: WNEU 2716 To appear in: World Neurosurgery Please cite this article as: Chaudhry NS, Ozpinar A, Bi WL, Chavakula V, Chi JH, Dunn IF, Basilar Invagination: Case Report and Literature Review, World Neurosurgery (2015), doi: 10.1016/ j.wneu.2015.02.007. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. ACCEPTED MANUSCRIPT Basilar Invagination: Case Report and Literature Review Nauman S. Chaudhry, MD1*, Alp Ozpinar, BS2*, Wenya Linda Bi, MD, PhD1, Vamsidhar Chavakula, MD1, John H. Chi, MD, MPH1, Ian F. Dunn, MD1 1Department of Neurosurgery, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 2Department of Neurological Surgery, Oregon Health Sciences University, Portland, OR *These authors contributed equally Please address all correspondence to: Ian F. Dunn, M.D. Department of Neurosurgery Brigham and Women’s Hospital 15 Francis Street, PBB-3 Boston, MA 02115 Phone: 617-525-8371 Email: [email protected] Running Title: Anterior vs.
    [Show full text]
  • Megalencephaly and Macrocephaly
    277 Megalencephaly and Macrocephaly KellenD.Winden,MD,PhD1 Christopher J. Yuskaitis, MD, PhD1 Annapurna Poduri, MD, MPH2 1 Department of Neurology, Boston Children’s Hospital, Boston, Address for correspondence Annapurna Poduri, Epilepsy Genetics Massachusetts Program, Division of Epilepsy and Clinical Electrophysiology, 2 Epilepsy Genetics Program, Division of Epilepsy and Clinical Department of Neurology, Fegan 9, Boston Children’s Hospital, 300 Electrophysiology, Department of Neurology, Boston Children’s Longwood Avenue, Boston, MA 02115 Hospital, Boston, Massachusetts (e-mail: [email protected]). Semin Neurol 2015;35:277–287. Abstract Megalencephaly is a developmental disorder characterized by brain overgrowth secondary to increased size and/or numbers of neurons and glia. These disorders can be divided into metabolic and developmental categories based on their molecular etiologies. Metabolic megalencephalies are mostly caused by genetic defects in cellular metabolism, whereas developmental megalencephalies have recently been shown to be caused by alterations in signaling pathways that regulate neuronal replication, growth, and migration. These disorders often lead to epilepsy, developmental disabilities, and Keywords behavioral problems; specific disorders have associations with overgrowth or abnor- ► megalencephaly malities in other tissues. The molecular underpinnings of many of these disorders are ► hemimegalencephaly now understood, providing insight into how dysregulation of critical pathways leads to ►
    [Show full text]
  • Level Estimates of Maternal Smoking and Nicotine Replacement Therapy During Pregnancy
    Using primary care data to assess population- level estimates of maternal smoking and nicotine replacement therapy during pregnancy Nafeesa Nooruddin Dhalwani BSc MSc Thesis submitted to the University of Nottingham for the degree of Doctor of Philosophy November 2014 ABSTRACT Background: Smoking in pregnancy is the most significant preventable cause of poor health outcomes for women and their babies and, therefore, is a major public health concern. In the UK there is a wide range of interventions and support for pregnant women who want to quit. One of these is nicotine replacement therapy (NRT) which has been widely available for retail purchase and prescribing to pregnant women since 2005. However, measures of NRT prescribing in pregnant women are scarce. These measures are vital to assess its usefulness in smoking cessation during pregnancy at a population level. Furthermore, evidence of NRT safety in pregnancy for the mother and child’s health so far is nebulous, with existing studies being small or using retrospectively reported exposures. Aims and Objectives: The main aim of this work was to assess population- level estimates of maternal smoking and NRT prescribing in pregnancy and the safety of NRT for both the mother and the child in the UK. Currently, the only population-level data on UK maternal smoking are from repeated cross-sectional surveys or routinely collected maternity data during pregnancy or at delivery. These obtain information at one point in time, and there are no population-level data on NRT use available. As a novel approach, therefore, this thesis used the routinely collected primary care data that are currently available for approximately 6% of the UK population and provide longitudinal/prospectively recorded information throughout pregnancy.
    [Show full text]
  • Neurologic Outcomes in Friedreich Ataxia: Study of a Single-Site Cohort E415
    Volume 6, Number 3, June 2020 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort e415 ARTICLE Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort e440 ARTICLE Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy e428 ARTICLE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases e434 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). James C. Stevens, MD, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published Orly Avitzur, MD, MBA, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. Tilton, MD, FAAN, Vice President Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 Citicorp Drive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at Two Carlayne E. Jackson, MD, FAAN, Secretary Commerce Square, 2001 Market Street, Philadelphia, PA 19103. Production offices are located at 351 West Camden Street, Baltimore, MD 21201-2436. Janis M. Miyasaki, MD, MEd, FRCPC, FAAN, Treasurer © 2020 American Academy of Neurology. Ralph L. Sacco, MD, MS, FAAN, Past President Neurology® Genetics is an official journal of the American Academy of Neurology. Journal website: Neurology.org/ng, AAN website: AAN.com CEO, American Academy of Neurology Copyright and Permission Information: Please go to the journal website (www.neurology.org/ng) and click the Permissions tab for the relevant Mary E.
    [Show full text]
  • Classification of Congenital Abnormalities of the CNS
    315 Classification of Congenital Abnormalities of the CNS M. S. van der Knaap1 A classification of congenital cerebral, cerebellar, and spinal malformations is pre­ J . Valk2 sented with a view to its practical application in neuroradiology. The classification is based on the MR appearance of the morphologic abnormalities, arranged according to the embryologic time the derangement occurred. The normal embryology of the brain is briefly reviewed, and comments are made to explain the classification. MR images illustrating each subset of abnormalities are presented. During the last few years, MR imaging has proved to be a diagnostic tool of major importance in children with congenital malformations of the eNS [1]. The excellent gray fwhite-matter differentiation and multi planar imaging capabilities of MR allow a systematic analysis of the condition of the brain in infants and children. This is of interest for estimating prognosis and for genetic counseling. A classification is needed to serve as a guide to the great diversity of morphologic abnormalities and to make the acquired data useful. Such a system facilitates encoding, storage, and computer processing of data. We present a practical classification of congenital cerebral , cerebellar, and spinal malformations. Our classification is based on the morphologic abnormalities shown by MR and on the time at which the derangement of neural development occurred. A classification based on etiology is not as valuable because the various presumed causes rarely lead to a specific pattern of malformations. The abnor­ malities reflect the time the noxious agent interfered with neural development, rather than the nature of the noxious agent. The vulnerability of the various structures to adverse agents is greatest during the period of most active growth and development.
    [Show full text]
  • Supratentorial Brain Malformations
    Supratentorial Brain Malformations Edward Yang, MD PhD Department of Radiology Boston Children’s Hospital 1 May 2015/ SPR 2015 Disclosures: Consultant, Corticometrics LLC Objectives 1) Review major steps in the morphogenesis of the supratentorial brain. 2) Categorize patterns of malformation that result from failure in these steps. 3) Discuss particular imaging features that assist in recognition of these malformations. 4) Reference some of the genetic bases for these malformations to be discussed in greater detail later in the session. Overview I. Schematic overview of brain development II. Abnormalities of hemispheric cleavage III. Commissural (Callosal) abnormalities IV. Migrational abnormalities - Gray matter heterotopia - Pachygyria/Lissencephaly - Focal cortical dysplasia - Transpial migration - Polymicrogyria V. Global abnormalities in size (proliferation) VI. Fetal Life and Myelination Considerations I. Schematic Overview of Brain Development Embryology Top Mid-sagittal Top Mid-sagittal Closed Neural Tube (4 weeks) Corpus Callosum Callosum Formation Genu ! Splenium Cerebral Hemisphere (11-20 weeks) Hemispheric Cleavage (4-6 weeks) Neuronal Migration Ventricular/Subventricular Zones Ventricle ! Cortex (8-24 weeks) Neuronal Precursor Generation (Proliferation) (6-16 weeks) Embryology From ten Donkelaar Clinical Neuroembryology 2010 4mo 6mo 8mo term II. Abnormalities of Hemispheric Cleavage Holoprosencephaly (HPE) Top Mid-sagittal Imaging features: Incomplete hemispheric separation + 1)1) No septum pellucidum in any HPEs Closed Neural
    [Show full text]
  • Structural Genomic Variation in Childhood Epilepsies with Complex Phenotypes
    European Journal of Human Genetics (2014) 22, 896–901 & 2014 Macmillan Publishers Limited All rights reserved 1018-4813/14 www.nature.com/ejhg ARTICLE Structural genomic variation in childhood epilepsies with complex phenotypes Ingo Helbig*,1, Marielle EM Swinkels2,3, Emmelien Aten4, Almuth Caliebe5, Ruben van ‘t Slot2, Rainer Boor1, Sarah von Spiczak1, Hiltrud Muhle1, Johanna A Ja¨hn1, Ellen van Binsbergen2, Onno van Nieuwenhuizen6, Floor E Jansen6, Kees PJ Braun6, Gerrit-Jan de Haan3, Niels Tommerup7, Ulrich Stephani1, Helle Hjalgrim8,9, Martin Poot2, Dick Lindhout2,3, Eva H Brilstra2, Rikke S Møller7,8 and Bobby PC Koeleman2 A genetic contribution to a broad range of epilepsies has been postulated, and particularly copy number variations (CNVs) have emerged as significant genetic risk factors. However, the role of CNVs in patients with epilepsies with complex phenotypes is not known. Therefore, we investigated the role of CNVs in patients with unclassified epilepsies and complex phenotypes. A total of 222 patients from three European countries, including patients with structural lesions on magnetic resonance imaging (MRI), dysmorphic features, and multiple congenital anomalies, were clinically evaluated and screened for CNVs. MRI findings including acquired or developmental lesions and patient characteristics were subdivided and analyzed in subgroups. MRI data were available for 88.3% of patients, of whom 41.6% had abnormal MRI findings. Eighty-eight rare CNVs were discovered in 71 out of 222 patients (31.9%). Segregation of all identified variants could be assessed in 42 patients, 11 of which were de novo. The frequency of all structural variants and de novo variants was not statistically different between patients with or without MRI abnormalities or MRI subcategories.
    [Show full text]
  • Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies
    Published March 17, 2016 as 10.3174/ajnr.A4738 ORIGINAL RESEARCH PEDIATRICS Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies X T.N. Booth and X N.K. Rollins ABSTRACT BACKGROUND AND PURPOSE: The olfactory apparatus, consisting of the bulb and tract, is readily identifiable on MR imaging. Anom- alous development of the olfactory apparatus may be the harbinger of anomalies of the secondary olfactory cortex and associated structures. We report a large single-site series of associated MR imaging findings in patients with olfactory anomalies. MATERIALS AND METHODS: A retrospective search of radiologic reports (2010 through 2014) was performed by using the keyword “olfactory”; MR imaging studies were reviewed for olfactory anomalies and intracranial and skull base malformations. Medical records were reviewed for clinical symptoms, neuroendocrine dysfunction, syndromic associations, and genetics. RESULTS: We identified 41 patients with olfactory anomalies (range, 0.03–18 years of age; M/F ratio, 19:22); olfactory anomalies were bilateral in 31 of 41 patients (76%) and absent olfactory bulbs and olfactory tracts were found in 56 of 82 (68%). Developmental delay was found in 24 (59%), and seizures, in 14 (34%). Pituitary dysfunction was present in 14 (34%), 8 had panhypopituitarism, and 2 had isolated hypogonadotropic hypogonadism. CNS anomalies, seen in 95% of patients, included hippocampal dysplasia in 26, cortical malformations in 15, malformed corpus callosum in 10, and optic pathway hypoplasia in 12. Infratentorial anomalies were seen in 15 (37%) patients and included an abnormal brain stem in 9 and an abnormal cerebellum in 3. Four patients had an abnormal membranous labyrinth.
    [Show full text]
  • Management of Basilar Invagination Tratamento De Invaginação Basilar Andrei Fernandes Joaquim1, MD, Phd
    53 Review Management of Basilar Invagination Tratamento de Invaginação Basilar Andrei Fernandes Joaquim1, MD, PhD. RESUMO A invaginação basilar (IB) constitui-se de uma anomalia do desenvolvimento da região crânio-cervical que resulta no prolapso da coluna cervical superior na base do crânio, comumente associada com outras anormalidades do neuro-eixo, tais como malformação de Chiari do tipo I e siringomielia. Neste artigo, revisamos os conceitos necessários para entender e tratar os pacientes com IB. O tratamento é discutido com base na classificação proposta por Goel, que divide a IB em dois grupos: grupo A - pacientes com elementos de instabilidade na junção crânio-cervical e grupo B - pacientes com IB secundária à hipoplasia do clivus. O tratamento no grupo A consiste no realinhamento e na estabilização da junção crânio-cervical, muitas vezes através de uma abordagem por via posterior isolada, evitando a morbidade inerente às descompressões por via anterior. No grupo B, a descompressão do forame magno é o tratamento de escolha. As técnicas cirúrgicas a serem utilizadas dependem da anatomia do paciente e da experiência do cirurgião. Resultados cirúrgicos adequados podem ser obtidos com o entendimento dos conceitos e formas de tratamento das diferentes apresentações da IB. Palavras Chave: invaginação basilar, classificação, tratamento. ABSTRACT Basilar invagination (BI) is a development anomaly of the craniocervical junction that results in a prolapsed of the upper cervical spine into the skull base, commonly associated to other bone and neural axis abnormalities, like Chiari I malformation and syringomyelia. In this paper, we review the concepts necessary to understand and treat BI. The most comprehensive and accepted classification system is the proposed by Goel, which divides patients with BI into two groups, as it follows: group A) patients with clear elements of instability; and group B) BI secondary to clivus hypoplasia.
    [Show full text]