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Neurological Syndromes Neurological Syndromes J. Gordon Millichap Neurological Syndromes A Clinical Guide to Symptoms and Diagnosis J. Gordon Millichap, MD., FRCP Professor Emeritus of Pediatrics and Neurology Northwestern University Feinberg School of Medicine Chicago, IL, USA Pediatric Neurologist Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago , IL , USA ISBN 978-1-4614-7785-3 ISBN 978-1-4614-7786-0 (eBook) DOI 10.1007/978-1-4614-7786-0 Springer New York Heidelberg Dordrecht London Library of Congress Control Number: 2013943276 © Springer Science+Business Media New York 2013 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfi lms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifi cally for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specifi c statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) Preface “Syndrome” (from the Greek syndromos , running together) is defi ned as a group of symptoms or signs that collectively characterize a disease or disorder. All of us have had the experience of examining a patient with unusual features or a set of symptoms and signs that appear to be related, and yet we are unable to recall the name of the syndrome or complete set of features. Presented recently with a child who had endured multiple operations for the complications of Goldenhar syndrome, I needed a quick reference book to check the complications that might infl uence the child’s response to treatment of his inattention and hyperactive behavior. I learned that cardiac complica- tions were a recognized feature of the syndrome, and the exclusion of a structural heart defect was a necessary prelude to a prescription for stimulant medication. A search of the literature failed to uncover a current reference compendium on neurological syndromes, and this experience prompted me to compile a list. My aim was to include recognized syndromes having a signifi cant number of neurological characteristics, and especially those designated by an eponym. The search for syn- dromes began with the perusal of indices of major neurology and pediatric neurol- ogy textbooks and board review books. In this compendium, each syndrome is defi ned, diagnostic characteristics and associated abnormalities are listed, differen- tial diagnosis and genetics are briefl y noted, and a short list of references appended. In all cases, an attempt is made to fi nd and list the original reference, as well as the most recent afforded by a search of PubMed. Several sources were culled for the original reference, and these included major, current, and older textbooks of neurol- ogy, Whonamedit? dictionary of medical eponyms, and early review publications. This compendium is intended as a quick reference guide to the better known and some less familiar syndromes of neurological interest. To those readers who can recall the name of a syndrome, the alphabetical presentation should facilitate a review of the major diagnostic characteristics. The original reference is provided for historical interest, and review articles are included to show recent advances in v vi Preface etiology and treatment. The index is arranged in alphabetical order of the named syndromes and also according to the involvement of various organs in addition to the nervous system. The author has attempted to list all syndromes of neurological interest, and apologies are offered for the inadvertent omission of any recognized and eponymous disorder that involves the nervous system. Chicago, IL, USA J. Gordon Millichap, MD., FRCP Contents A ....................................................................................................................... 1 Aicardi Syndrome ............................................................................................. 2 Aicardi-Goutieres Syndrome ............................................................................ 3 Andermann Syndrome ...................................................................................... 4 Angelman Syndrome ........................................................................................ 5 Anton Syndrome ............................................................................................... 6 Apert Syndrome ................................................................................................ 7 Avellis Syndrome .............................................................................................. 8 B ....................................................................................................................... 9 Balint Syndrome ............................................................................................... 10 Bannwarth Syndrome ........................................................................................ 11 Bardet-Biedl Syndrome .................................................................................... 12 Bassen-Kornzweig Syndrome ........................................................................... 13 Benedikt Syndrome ........................................................................................... 14 Bobble-Head Doll Syndrome ............................................................................ 15 Brainstem Syndromes ....................................................................................... 16 Brown-Sequard Syndrome ................................................................................ 17 Brueghel Syndrome .......................................................................................... 18 Burning Feet Syndrome .................................................................................... 19 C ....................................................................................................................... 21 CADASIL Syndrome ........................................................................................ 22 Capgras Syndrome ............................................................................................ 23 Cayler Cardiofacial Syndrome .......................................................................... 24 Central Cord Syndrome .................................................................................... 25 CHARGE Syndrome ......................................................................................... 26 Charles Bonnet Syndrome (CBS) ..................................................................... 27 Chiasmal Syndrome (Junctional Scotoma Syndrome) ..................................... 28 Churg-Strauss Syndrome .................................................................................. 29 Claude Syndrome .............................................................................................. 30 vii viii Contents Cockayne Syndrome ......................................................................................... 31 Coffi n-Lowry Syndrome ................................................................................... 32 Cohen Syndrome ............................................................................................... 33 Cornelia de Lange Syndrome ............................................................................ 34 Cornelia de Lange Syndrome II ........................................................................ 35 Costen Syndrome .............................................................................................. 36 Cowden Syndrome ............................................................................................ 37 Cranial Nerve Syndromes ................................................................................. 38 CRASH Syndrome ............................................................................................ 39 Cri du Chat Syndrome ...................................................................................... 40 Crouzon Syndrome ........................................................................................... 41 D ......................................................................................................................
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