Approach to Brain Malformations

Total Page:16

File Type:pdf, Size:1020Kb

Approach to Brain Malformations Approach to Brain Malformations A General Imaging Approach to Brain CSF spaces. This is the basis for development of the Dandy- Malformations Walker malformation; it requires abnormal development of the cerebellum itself and of the overlying leptomeninges. Whenever an infant or child is referred for imaging because of Looking at the midline image also gives an idea of the relative either seizures or delayed development, the possibility of a head size through assessment of the craniofacial ratio. In the brain malformation should be carefully investigated. If the normal neonate, the ratio of the cranial vault to the face on child appears dysmorphic in any way (low-set ears, abnormal midline images is 5:1 or 6:1. By 2 years, it should be 2.5:1, and facies, hypotelorism), the likelihood of an underlying brain by 10 years, it should be about 1.5:1. malformation is even higher, but a normal appearance is no guarantee of a normal brain. In all such cases, imaging should After looking at the midline, evaluate the brain from outside be geared toward showing a structural abnormality. The to inside. Start with the cerebral cortex. Is the thickness imaging sequences should maximize contrast between gray normal (2-3 mm)? If it is too thick, think of pachygyria or matter and white matter, have high spatial resolution, and be polymicrogyria. Is the cortical white matter junction smooth or acquired as volumetric data whenever possible so that images irregular? If it is irregular, think of polymicrogyria or Brain: Pathology-Based Diagnoses can be reformatted in any plane or as a surface rendering. The cobblestone cortex. Polymicrogyria is seen in many underlying high resolution and ability to reformat will aid in the diagnosis disorders, including congenital cytomegalovirus and genetic of subtle abnormalities. High-resolution T1-weighted syndromes, among others. Cobblestone cortex may be volumetric images are essential for this purpose. High- associated with congenital muscular dystrophies, such as resolution 2D coronal T2 images remain a workhorse for muscle-eye-brain disease. Pachygyria that is more severe in evaluation of midline structures, hippocampi, and optic the parietal and occipital lobes suggests a mutation of LIS1 or nerves. High-resolution 3D FLAIR images may be particularly TUBA1A (TUBA1A is also associated with microcephaly), helpful in evaluating for focal cortical dysplasia. The use of whereas pachygyria that is worst in the frontal lobes suggests diffusion tensor imaging (DTI) to acquire color fractional a mutation of DCX. Similarly, there are many different anisotropy (FA) maps and perform tractography is useful to polymicrogyria syndromes that depend upon the location of better understand the connectivity of the malformed brain, the polymicrogyria. Bilateral frontal polymicrogyria is a particularly in the brainstem, and may become clinically useful different entity than bilateral perisylvian polymicrogyria or in the near future. bilateral parasagittal parietooccipital polymicrogyria; it is important to be specific in reporting the location of the After acquisition of appropriate images, image analysis must abnormality. If the cortex is abnormally thin and associated take place in an orderly manner. The midline structures with diminished underlying white matter, one should think of (including cerebral commissures, septum pellucidum, nose a prenatal injury (infectious or ischemic), particularly if the and rhinencephalon, pituitary gland, optic chiasm, and thinning is focal or multifocal. hypothalamus), the cerebral cortex (cortical thickness, gyral pattern, and cortical gray matter-white matter junction), the After the cortex, look at the cerebral white matter. Make sure cerebral white matter (myelination, presence of nodules or myelination is appropriate for age (there are many sources of clefts), the basal ganglia, the ventricular system (all ventricles normal myelination charts, including journal articles and completely present and of normal size and shape), the textbooks). Then, look for areas of abnormal myelination interhemispheric fissure, and the midbrain hindbrain within the deep white matter. Diffuse layers of structures (brainstem and cerebellum) should all be hypomyelination or amyelination associated with overlying scrutinized in every patient. polymicrogyria should raise suspicion for congenital cytomegalovirus infection. Generalized ipsilateral ↑T1 & ↓T2 Evaluate the midline structures first, as many disease signal in the white matter of a neonate with overlying cortical processes of children take place in the midline, including malformation should prompt one to think of anomalies of the cerebral commissures (corpus callosum, hemimegalencephaly, which is often accompanied by anterior commissure, and hippocampal commissure), midline ipsilateral hemisphere & ventricular enlargement. Focal tumors (suprasellar, pineal, brainstem, and 4th ventricle), cortical dysplasias (FCDs) are often most conspicuous at birth anomalies of the cerebellar vermis, and anomalies of the with ↑T1 & ↓T2 in the subcortical white matter. After craniocervical junction. Anomalies of the cerebral myelination, FCDs are typically most conspicuous on FLAIR, commissures are the most common brain malformations; where one may see a curvilinear cone-shaped abnormality more than 130 syndromes involving them have been coursing from the cortex to the superolateral margin of a described. Many of these malformations are associated with lateral ventricle (known as the transmantle sign). Narrowing anomalies of the hypothalamus, so always look at the the window on FLAIR images increases conspicuity of FCD. hypothalamus and pituitary gland to ensure that the posterior Also, look for nodules of heterotopic gray matter in the pituitary lobe is in the sella turcica and not in the median periventricular or deep white matter. Transmantle gray eminence of the hypothalamus. The midline leptomeninges matter heterotopia typically extends from the cortex all the are important in commissural development, so be sure to look way to the lateral ventricular wall, whereas periventricular for other anomalies associated with abnormal midline nodular heterotopia is more localized to the immediate leptomeninges, such as interhemispheric lipomas and subependymal/periventricular region. Heterotopia might be interhemispheric cysts, when the commissures are absent or difficult to differentiate from unmyelinated or injured white dysmorphic. Remember that large CSF spaces in the posterior matter on T1-weighted images, so be sure to look at T2- fossa may be a sign of associated anomalies of the weighted images or FLAIR images to ensure that the lesion is cerebellum. The reason for this has only recently been isointense to gray matter on all sequences. discovered. Several cerebellar growth factors derive from the overlying leptomeninges. Therefore, abnormalities of the The basal ganglia are sometimes abnormal in neuronal- cerebellar leptomeninges may result in anomalies of the migration disorders, as they are formed from neurons cerebellum itself, as well as abnormalities of the surrounding generated in the medial and lateral ganglionic eminences, the 4 Approach to Brain Malformations Brain: Pathology-Based Diagnoses Brain Anomaly Imaging Checklist Anomaly Findings Anomalies of Cerebral Cortex Agyria/pachygyria Thick cortex, smooth inner margin, few shallow sulci Polymicrogyria Nodular cortex & gray matter-white matter junction Cobblestone cortex Thick cortex, irregular inner margin, abnormal myelin Focal cortical dysplasia Thick cortex, blurred gray-white junction, ± deep sulcus White Matter Abnormalities With Cortical Malformation Hemimegalencephaly ↑ T1, ↓T2 in neonatal white matter; dysplastic neurons Cobblestone cortex Delayed myelination, patchy hypomyelination Congenital cytomegalovirus Deep layers of hypomyelination/gliosis Focal cortical dysplasia "Tail" of signal abnormality extending toward ventricle Malformations Associated With Absent Septum Pellucidum Septo-optic dysplasia ON hypoplasia, pituitary anomaly, ± PMG/schizencephaly Holoprosencephaly Varying degrees of incomplete hemispheric separation Malformations with severe prolonged hydrocephalus Absent septum typically thought to be destructive ON = optic nerve; PMG = polymicrogyria. same germinal zones that produce GABAergic neurons that abnormal, refer to an axial or coronal image to make sure the migrate to the cerebral cortex. In particular, the basal ganglia vermis is present; if the cerebellar hemispheres are tend to be dysmorphic in appearance in patients with continuous without a vermis between them, make a diagnosis subcortical heterotopia. In addition, the hippocampi are often of rhombencephalosynapsis. Whenever aqueductal stenosis is abnormal in cortical-development malformations. In patients encountered, look carefully for rhombencephalosynapsis. If with lissencephaly, in particular, the hippocampi are the 4th ventricle has an abnormal rectangular shape (with a incompletely folded. Sometimes the only structural horizontal superior margin) with a narrow isthmus and small abnormalities in children with developmental delay are vermis, consider a molar tooth malformation. To confirm this hippocampal; always ensure that they are fully folded and not diagnosis, look on axial images for the molar tooth sign of the too round. In the case of longstanding seizures, carefully lower midbrain, consisting of large, horizontal superior inspect the hippocampi for asymmetric atrophy and increased cerebellar peduncles
Recommended publications
  • Partial Rhombencephalosynapsis and Chiari II Malformation
    CASE REPORT SMY Wan PL Khong Partial rhombencephalosynapsis and P Ip Chiari II malformation GC Ooi !"#$%&'(ff !"#$%&'() ○○○○○○○○○○○○○○○○○○○○○○○○○○○○○○○○○○○○○○○ We report a rare case of partial rhombencephalosynapsis coexistent with Chiari II malformation in a 6-year-old girl and discuss the fea- tures of these entities on magnetic resonance imaging. !"#S !"#$%&'()*+,-./0ff !" !"#$%&'()*+,-./01234(5%678 Introduction Rhombencephalosynapsis (RS) is a rare congenital malformation of the posterior cranial fossa characterised by vermal agenesis or hypogenesis and fusion of the cerebellar hemispheres. About 40 cases have been re- ported.1 Partial RS was reported for the first time recently whereby normal development of the anterior vermis and nodulus was noted but part of the posterior vermis was deficient.2 One case of RS associated with Chiari II malformation has also been reported.3 To the best of our knowledge, the coexistence of partial RS and Chiari II malformation and their features on magnetic resonance imaging (MRI) have not been reported. Key words: Case report Arnold-Chiari malformation; Cerebellum; A 6-year-old girl had spina bifida and hydrocephalus at birth. She was the Child; second child of a non-consanguineous southern Chinese couple. Antenatal Magnetic resonance imaging; examination by a private obstetrician including an ultrasound scan at 22 Rhombencephalon weeks’ gestation was reported to be normal. There was no family history of congenital malformations or any other remarkable medical problems. ! Her birth at full term was complicated by her large head and the delivery !"#$%&'() necessitated a Caesarean section. A ruptured myelomeningocele over the lumbosacral region was also noted at birth and there was paucity of lower limb movement.
    [Show full text]
  • Harold Brockhaus. the Finer Anatomy of the Septum and of the Striatum
    NIH LIBRARY TRANSLATION (NIH-81-109) J Psychol Neurol 51 (1/2):1-56 (1942). THE FINER ANATOMY OF THE SEPTUM AND OF THE STRIATUM WITH 72 ILLUSTRATIONS BY Harold Brockhaus From the Institute of the German Brain Research Association, Neustadt im Schwarzwald (Director: Prof. 0. Vogt) CONTENTS Introduction Preliminary remarks: Material and technical data Results I. The Gray Masses of the Septum. Discussion of the results II. The Striatum a) Fundus striati Supplement: 1. Insulae olfactoriae striatales 2. The cortex of the Tuberculum olfactorium 3. Nucleus subcaudatus b) Nucleus caudatus c) Putamen Discussion of the results Summary Literature INTRODUCTION It is the purpose of this publication to investigate, more thoroughly than done before, the structure of the gray masses of the septum1 and striatum (as interpreted by C. and 0. Vogt, Spatz and others), using cyto and myelo-architectonic methods. It is not customary in general to study both fields jointly, as done in this publication. When doing so here, it was intended to clarify recurrent opinions voiced in earlier and recent literature on the more or less close morphogenetic, structural and thereby possibly also functional correlations between these two fields of between parts of the latter (by means of a study focused on the finer structural conditions within this area in the mature human and primate brain) (Maynert, Kappers, Johnston, Kuhlenbeck, Rose, among others). Moreover, the gray masses of the septum and striatum are to be studied, principally in the oral area of the latter (N. accumbens, Ziehen), generally believed so far to originate from the encephalon. The structural correlation between the above and the ventral and ventrocaudal adjoining prothalamatic nuclei is to be investigated2 which, in a wider sense, belong to the hypothalamus and therefore to the mid-brain.
    [Show full text]
  • Connection Interfaces Between Neuronal Elements and Structures Inside Greater Limbic System
    Rom J Leg Med [21] 137-148 [2013] DOI: 10.4323/rjlm.2013.137 © 2013 Romanian Society of Legal Medicine Connection interfaces between neuronal elements and structures inside greater limbic system. Evaluation in forensic psycho-affective pathology Gheorghe S. Dragoi1, Petru Razvan Melinte2, Liviu Radu3 _________________________________________________________________________________________ Abstract: The authors achieved a macroanatomic analysis on the location and relations of neuronal structures and elements inside transitional mesocortex and archicortex in order to visualize the connection interfaces of greater limbic system. The analysis was performed on human encephalon using subsystems generally homologated by neuroanatomists: lobus limbicus, hippocampal formation, prefrontal cortex, lobus insularis and subcortical structures. Equally, they performed a research of the literature on the implication of connection interfaces from paralimbic, limbic and archicortex areas, into forensic psycho-affective ortology and pathology. The study draws the attention to time and space development of terminology and homologation of some new concepts bound to multifunctional subsystems such as: medial temporal lobe memory system, prefrontal cortex and limbic midbrain area. Key Words: greater limbic system, transitional mesocortex, archicortex euroanatomy registered remarkable progress (proneocortical or paralimbic zone and periarchicortical or by the diversity of morph-functional and limbic zone); hippocampal formation (with two regions: N anatomic-clinical
    [Show full text]
  • Congenital Disorders of Glycosylation from a Neurological Perspective
    brain sciences Review Congenital Disorders of Glycosylation from a Neurological Perspective Justyna Paprocka 1,* , Aleksandra Jezela-Stanek 2 , Anna Tylki-Szyma´nska 3 and Stephanie Grunewald 4 1 Department of Pediatric Neurology, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, Poland 2 Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland; [email protected] 3 Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, W 04-730 Warsaw, Poland; [email protected] 4 NIHR Biomedical Research Center (BRC), Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, London SE1 9RT, UK; [email protected] * Correspondence: [email protected]; Tel.: +48-606-415-888 Abstract: Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the post- translational transformation of most human proteins. Since glycosylation processes are necessary for many different biological processes, patients present a diverse spectrum of phenotypes and severity of symptoms. The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: epilepsy, intellectual disability, myopathies, neuropathies and stroke-like episodes. Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations
    [Show full text]
  • Polymicrogyria (PMG) ‘Many–Small–Folds’
    Polymicrogyria Dr Andrew Fry Clinical Senior Lecturer in Medical Genetics Institute of Medical Genetics, Cardiff [email protected] Polymicrogyria (PMG) ‘Many–small–folds’ • PMG is heterogeneous – in aetiology and phenotype • A disorder of post-migrational cortical organisation. PMG often appears thick on MRI with blurring of the grey-white matter boundary Normal PMG On MRI PMG looks thick but the cortex is actually thin – with folded, fused gyri Courtesy of Dr Jeff Golden, Pen State Unv, Philadelphia PMG is often confused with pachygyria (lissencephaly) Thick cortex (10 – 20mm) Axial MRI 4 cortical layers Lissencephaly Polymicrogyria Cerebrum Classical lissencephaly is due Many small gyri – often to under-migration. fused together. Axial MRI image at 7T showing morphological aspects of PMG. Guerrini & Dobyns Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014 Jul; 13(7): 710–726. PMG - aetiology Pregnancy history • Intrauterine hypoxic/ischemic brain injury (e.g. death of twin) • Intrauterine infection (e.g. CMV, Zika virus) TORCH, CMV PCR, [+deafness & cerebral calcification] CT scan • Metabolic (e.g. Zellweger syndrome, glycine encephalopathy) VLCFA, metabolic Ix • Genetic: Family history Familial recurrence (XL, AD, AR) Chromosomal abnormalities (e.g. 1p36 del, 22q11.2 del) Syndromic (e.g. Aicardi syndrome, Kabuki syndrome) Examin - Monogenic (e.g. TUBB2B, TUBA1A, GPR56) Array ation CGH Gene test/Panel/WES/WGS A cohort of 121 PMG patients Aim: To explore the natural history of PMG and identify new genes. Recruited: • 99 unrelated patients • 22 patients from 10 families 87% White British, 53% male ~92% sporadic cases (NB. ascertainment bias) Sporadic PMG • Array CGH, single gene and gene panel testing - then a subset (n=57) had trio-WES.
    [Show full text]
  • Xerox University Microfilms 300 North Zeeb Road Ann Arbor, Michigan 48106 73-20,651
    TIME OF ORIGIN OF BASAL FOREBRAIN NEURONS IN THE MOUSE: AN AUTORADIOGRAPHIC STUDY Item Type text; Dissertation-Reproduction (electronic) Authors Creps, Elaine Sue, 1946- Publisher The University of Arizona. Rights Copyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author. Download date 07/10/2021 05:12:20 Link to Item http://hdl.handle.net/10150/290321 INFORMATION TO USERS This material was produced from a microfilm copy of the original document. While the most advanced technological means to photograph and reproduce this document have been used, the quality is heavily dependent upon the quality of the original submitted. The following explanation of techniques is provided to help you understand markings or patterns which may appear on this reproduction. 1. The sign or "target" for pages apparently lacking from the document photographed is "Missing Paga(s)". If it was possible to obtain the missing page(s) or section, they are spliced into the film along with adjacent pages. This may have necessitated cutting thru an image and duplicating adjacent pages to insure you complete continuity. 2. When an image on the film is obliterated with a large round black mark, it is an indication that the photographer suspected that the copy may have moved during exposure and thus cause a blurred image. You will find a good image of the page in the adjacent frame. 3. When a map, drawing or chart, etc., was part of the material being photographed the photographer followed a definite method in "sectioning" the material.
    [Show full text]
  • Massachusetts Birth Defects 2002-2003
    Massachusetts Birth Defects 2002-2003 Massachusetts Birth Defects Monitoring Program Bureau of Family Health and Nutrition Massachusetts Department of Public Health January 2008 Massachusetts Birth Defects 2002-2003 Deval L. Patrick, Governor Timothy P. Murray, Lieutenant Governor JudyAnn Bigby, MD, Secretary, Executive Office of Health and Human Services John Auerbach, Commissioner, Massachusetts Department of Public Health Sally Fogerty, Director, Bureau of Family Health and Nutrition Marlene Anderka, Director, Massachusetts Center for Birth Defects Research and Prevention Linda Casey, Administrative Director, Massachusetts Center for Birth Defects Research and Prevention Cathleen Higgins, Birth Defects Surveillance Coordinator Massachusetts Department of Public Health 617-624-5510 January 2008 Acknowledgements This report was prepared by the staff of the Massachusetts Center for Birth Defects Research and Prevention (MCBDRP) including: Marlene Anderka, Linda Baptiste, Elizabeth Bingay, Joe Burgio, Linda Casey, Xiangmei Gu, Cathleen Higgins, Angela Lin, Rebecca Lovering, and Na Wang. Data in this report have been collected through the efforts of the field staff of the MCBDRP including: Roberta Aucoin, Dorothy Cichonski, Daniel Sexton, Marie-Noel Westgate and Susan Winship. We would like to acknowledge the following individuals for their time and commitment to supporting our efforts in improving the MCBDRP. Lewis Holmes, MD, Massachusetts General Hospital Carol Louik, ScD, Slone Epidemiology Center, Boston University Allen Mitchell,
    [Show full text]
  • CONGENITAL ABNORMALITIES of the CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles Ffrench-Constant *I3
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.74.suppl_1.i3 on 1 March 2003. Downloaded from CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles ffrench-Constant *i3 J Neurol Neurosurg Psychiatry 2003;74(Suppl I):i3–i8 dvances in genetics and molecular biology have led to a better understanding of the control of central nervous system (CNS) development. It is possible to classify CNS abnormalities Aaccording to the developmental stages at which they occur, as is shown below. The careful assessment of patients with these abnormalities is important in order to provide an accurate prog- nosis and genetic counselling. c NORMAL DEVELOPMENT OF THE CNS Before we review the various abnormalities that can affect the CNS, a brief overview of the normal development of the CNS is appropriate. c Induction—After development of the three cell layers of the early embryo (ectoderm, mesoderm, and endoderm), the underlying mesoderm (the “inducer”) sends signals to a region of the ecto- derm (the “induced tissue”), instructing it to develop into neural tissue. c Neural tube formation—The neural ectoderm folds to form a tube, which runs for most of the length of the embryo. c Regionalisation and specification—Specification of different regions and individual cells within the neural tube occurs in both the rostral/caudal and dorsal/ventral axis. The three basic regions of copyright. the CNS (forebrain, midbrain, and hindbrain) develop at the rostral end of the tube, with the spinal cord more caudally. Within the developing spinal cord specification of the different popu- lations of neural precursors (neural crest, sensory neurones, interneurones, glial cells, and motor neurones) is observed in progressively more ventral locations.
    [Show full text]
  • Chiari Type II Malformation: Past, Present, and Future
    Neurosurg Focus 16 (2):Article 5, 2004, Click here to return to Table of Contents Chiari Type II malformation: past, present, and future KEVIN L. STEVENSON, M.D. Children’s Healthcare of Atlanta, Atlanta, Georgia Object. The Chiari Type II malformation (CM II) is a unique hindbrain herniation found only in patients with myelomeningocele and is the leading cause of death in these individuals younger than 2 years of age. Several theories exist as to its embryological evolution and recently new theories are emerging as to its treatment and possible preven- tion. A thorough understanding of the embryology, anatomy, symptomatology, and surgical treatment is necessary to care optimally for children with myelomeningocele and prevent significant morbidity and mortality. Methods. A review of the literature was used to summarize the clinically pertinent features of the CM II, with par- ticular attention to pitfalls in diagnosis and surgical treatment. Conclusions. Any child with CM II can present as a neurosurgical emergency. Expeditious and knowledgeable eval- uation and prompt surgical decompression of the hindbrain can prevent serious morbidity and mortality in the patient with myelomeningocele, especially those younger than 2 years old. Symptomatic CM II in the older child often pre- sents with more subtle findings but rarely in acute crisis. Understanding of CM II continues to change as innovative techniques are applied to this challenging patient population. KEY WORDS • Chiari Type II malformation • myelomeningocele • pediatric The CM II is uniquely associated with myelomeningo- four distinct forms of the malformation, including the cele and is found only in this population. Originally de- Type II malformation that he found exclusively in patients scribed by Hans Chiari in 1891, symptomatic CM II ac- with myelomeningocele.
    [Show full text]
  • Cavum Septi Pellucidi in Tourette Syndrome Karen J
    Yale University EliScholar – A Digital Platform for Scholarly Publishing at Yale Yale Medicine Thesis Digital Library School of Medicine 2002 Cavum septi pellucidi in Tourette Syndrome Karen J. Kim Yale University Follow this and additional works at: http://elischolar.library.yale.edu/ymtdl Recommended Citation Kim, Karen J., "Cavum septi pellucidi in Tourette Syndrome" (2002). Yale Medicine Thesis Digital Library. 2790. http://elischolar.library.yale.edu/ymtdl/2790 This Open Access Thesis is brought to you for free and open access by the School of Medicine at EliScholar – A Digital Platform for Scholarly Publishing at Yale. It has been accepted for inclusion in Yale Medicine Thesis Digital Library by an authorized administrator of EliScholar – A Digital Platform for Scholarly Publishing at Yale. For more information, please contact [email protected]. med Thesis T113 +Y12 6S27 Digitized by the Internet Archive in 2017 with funding from The National Endowment for the Humanities and the Arcadia Fund https://archive.org/details/cavumseptipellucOOkimk I Cavum Septi Pellucidi in Tourette Syndrome A Thesis Submitted to the Yale University School of Medicine in Partial Fulfillment of the Requirements for the Degree of Doctor of Medicine by Karen J. Kim 2002 AUGz YALE MEDICAL LIBRARY AUG 2 0 2002 CAVUM SEPTI PELLUCID I IN TOURETTE SYNDROME. Karen J. Kim and Bradley S. Peterson. Yale Child Study Center, Yale University School of Medicine, New Haven, CT. An enlarged cavum septi pellucidi (CSP) has been associated with a variety of neuropsychiatric disorders and is a putative marker of disturbed brain development. The goal of this study was to characterize systematically the CSP and the related cavum vergae in individuals with Tourette Syndrome (TS).
    [Show full text]
  • Rhombencephalosynapsis: CT and MRI Findings
    Short Reports Rhombencephalosynapsis: CT and MRI findings J. L. F. Mendonça,1,2 M. R. C. Natal,1,2 S. L. Viana,3,4 P. P. A. Coimbra,2,5 M. A. C. B. Viana,2 M. Matsumine 3 1Hospital Santa Lucia; 2Fundaçao Hospitalar do Distrito Federal; 3Clinica Radiologica Vila Rica; 4Unimed Brasilia; 5Hospital Universitario de Brasilia (UnB), Brasilia, DF - Brazil. performed. CT scan, retrospectively analyzed with the benefit of MRI An unusual disorder of cerebellar development, images showed a small fourth ventricle, associated with the absence of rhombencephalosynapsis is a unique entity which presents the septum pellucidum and a small hypodense lesion at the quadrigemi- with cerebellar fusion and absence of cerebellar vermis on nal plate cistern, slightly left to the midline. Fusion of the cerebellar imaging studies, often associated with supratentorial find- lobes was hard to see on CT scan images (Figures 1a and 1b). ings. No specific clinical syndrome has been described in these patients so far, and most cases are found in infancy and childhood. MRI and its multiplanar capabilities and high spatial and contrast resolution increased its recognition. Two cases are reported, with emphasis on imaging findings. Key Words: Rhombencephalosynapsis, Magnetic reso- nance imaging, Computed tomography, Cerebellum, Cer- ebellar malformations. Introduction Rhombencephalosynapsis (RS) is an uncommon malforma- tion of the posterior fossa characterized by hypoplasia or apla- sia of the vermis and fused cerebellar hemispheres; fusion or 1a apposition of the dentate nuclei and cerebellar peduncles are also observed. The clinical course is variable and depends on the severity of the posterior fossa findings and supratento- rial-associated anomalies.
    [Show full text]
  • Auditory Processing Disorders in Twins with Perisylvian Polymicrogyria
    Arq Neuropsiquiatr 2009;67(2-B):499-501 Clinical / Scientific note AUDITORY PROCESSING DISORDERS IN TWINS WITH PERISYLVIAN POLYMICROGYRIA Mirela Boscariol1, Vera Lúcia Garcia2, Catarina A. Guimarães3, Simone R.V. Hage4, Maria Augusta Montenegro5, Fernando Cendes6, Marilisa M. Guerreiro7 Bilateral perisylvian polymicrogyria is a malformation tigation was performed in a 2.0 T scanner (Elscint Prestige) with of cortical development due to abnormal late neuronal posterior multiplanar reconstruction and curvilinear reformat- migration or abnormal cortical organization around the ting in 3D magnetic resonance imaging (MRI). sylvian fissure1. The language assessment considered the following aspects: The severity of the clinical manifestations correlates phonological, morphosyntactic, semantic and pragmatic produc- with the extent of the lesion. Therefore, the term diffuse tion. Standard and non-standard speech protocols were used: polymicrogyria is applied when the cortical malforma- sample of free speech; ABFW – Children Language Test with tion spreads around the entire sylvian fissure, and restrict- phonological and vocabulary tests3. Reading/writing evaluation ed polymicrogyria is applied when polymicrogyria occurs included: sample of free writing, Phonologic Skill Test4, School only in the posterior part of the parietal region. The re- Performance Test5, non-words reading and writing, oral speed stricted form is also called bilateral posterior parietal reading, and text understanding. polymicrogyria and appears to be associated with a genet- The peripheral audiological capability was assessed with au- ic predisposition and soft clinical features (such as speech diometry, speech reception thresholds and acoustic impedance delay and dysarthria) when compared to the diffuse form tests. An acoustic cabin was used with an AC-30 audiometer (In- of polymicrogyria.
    [Show full text]