Neuromyelitis Optica Spectrum Disorders

Total Page:16

File Type:pdf, Size:1020Kb

Neuromyelitis Optica Spectrum Disorders Clinical Medicine 2019 Vol 19, No 2: 169–76 REVIEW N e u r o m y e l i t i s o p t i c a s p e c t r u m d i s o r d e r s Authors: S a i f H u d a , A D a n W h i t t a m , B M a n e e s h B h o j a k , C J a y n e C h a m b e r l a i n , D C a r m e l N o o n a n , E A n u J a c o b F , G a n d H R a c h e l K n e e n Neuromyelitis optica spectrum disorder (NMOSD) is an oedema from C1-T4 with contrast enhancement. His cerebrospinal uncommon antibody-mediated disease of the central nervous fluid demonstrated a lymphocytic pleocytosis (white cell count system. Long segments of spinal cord infl ammation (myelitis), 40 cells/mm 3 ) with normal protein, glucose ratio, and negative severe optic neuritis, and/or bouts of intractable vomiting and oligoclonal bands. Acute inflammatory transverse myelitis was hiccoughs (area postrema syndrome) are classic presentations diagnosed and he was given 1 gram of IV methylprednisolone for ABSTRACT of the disease and may alert the clinician to the diagnosis. 5 days. His serum was sent for aquaporin-4 (AQP4) and myelin Untreated, approximately 50% of NMOSD patients will be wheel- oligodendrocyte glycoprotein (MOG) antibodies (Abs). The steroid chair users and blind, and a third will have died within 5 years of treatment did not result in significant improvement. There was their fi rst attack. Unlike multiple sclerosis, a progressive clinical concern of ascending myelitis and respiratory compromise. He course is very unusual and the accrual of disability is related to was given 5 cycles of plasma exchange and continued on a relapses. Approximately 75% of patients have antibodies against tapering course of prednisolone. After 4 weeks his arm strength aquaporin-4, a water channel expressed on astrocytes. Relapses had improved but he remained paraplegic and was transferred are treated aggressively to prevent residual disability with high- to a rehabilitation facility. During his admission he complained of dose steroids and often plasma exchange. Relapse prevention is severe itching (to the point of excoriation) over his chest as well as crucial and achieved with long-term immuno suppression. In this painful lower limb spasms, which were successfully treated with article we review the pathogenesis, clinical features, diagnosis gabapentin and carbamazepine respectively. His AQP4-Abs were and management of NMOSD. positive and he was commenced on mycophenolate mofetil with prednisolone to prevent further relapses. At follow-up 3 months K E Y W O R D S : Neuromyelitis optica , aquaporin-4 , antibody later he remained relapse-free but wheelchair-dependent with a spastic paraplegia. He used intermittent self-catheterisation four times per day and required regular bowel irrigation for Case vignette constipation. He was commenced on baclofen for spasticity and sildenafil for erectile dysfunction. Interestingly, following plasma A 24-year-old male developed nausea, vomiting, and pain exchange his nausea and vomiting resolved completely suggesting between his shoulder blades with leg weakness. Over the that the vomiting may have been AQP4-Ab mediated area next 72 hours he developed rapidly progressive leg weakness, postrema syndrome. numbness, and urinary retention, and attended his local emergency department. He was admitted but quickly progressed Introduction to flaccid tetraplegia. There were no preceding infections or inciting events. His medical history was unremarkable except Neuromyelitis optica spectrum disorder (NMOSD) is an uncommon for ‘cyclical vomiting syndrome’. Numerous investigations and antibody-mediated disease of the central nervous system. In the treatments including a cholecystectomy had been unsuccessful. UK patients often present to and are first assessed in emergency He had urgent magnetic resonance imaging (MRI) of the departments or acute medical units (AMU). Early diagnosis and spine, which demonstrated a long segment of high T2 signal and treatment are important to reduce the risk of long-term disability and death. The term neuromyelitis optica (derived from neuro-myélite Authors: A post-CCT neuroimmunology fellow, Walton Centre NHS optique aiguë) was first described by Eugène Devic and his Foundation Trust, Liverpool, UK ; B neuroimmunology clinical fellow, doctoral student Fernand Gault in 1894.1 The disease was Walton Centre NHS Foundation Trust, Liverpool, UK ; C consultant therefore previously referred to as Devic’s disease. Until recently neuroradiologist, Walton Centre NHS Foundation Trust, Liverpool, UK ; it was unclear whether neuromyelitis optica was a separate D Technical Specialist Analytical Development, Ipsen, Wrexham, UK ; disease or merely a more severe form of ‘optico-spinal’ multiple E consultant neuro-ophthalmologist, Walton Centre NHS Foundation sclerosis (MS). It was not until 2004 when the putative antigenic Trust, Liverpool, UK ; F consultant neurologist, Walton Centre NHS target, the aquaporin-4 water channel was identified, and Foundation Trust, Liverpool, UK ; G NMOSD clinical lead, Walton the two diseases could be reliably distinguished through the Centre NHS Foundation Trust, Liverpool, UK ; H consultant paediatric detection of AQP4-Abs. 2 The latest iteration of diagnostic neurologist and neuromyelitis optica spectrum disorder paediatric guidelines unify antibody-negative and positive forms under the 3 clinical lead, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK umbrella of NMOSDs. © Royal College of Physicians 2019. All rights reserved. 169 CCMJv19n2-Huda.inddMJv19n2-Huda.indd 116969 77/18/19/18/19 110:040:04 PPMM Saif Huda, Dan Whittam, Maneesh Bhojak et al Since the discovery of AQP4-Abs there have been over 3,000 (a) publications on NMOSD in the PubMed database alone. More Vascular endothelium recently another antigenic target, myelin oligodendrocyte Blood- 4 AQP4 brain glycoprotein (MOG) has been identified in patients with NMOSD. barrier This review aims to provide a basic overview of the pathogenesis, diagnosis, and management of NMOSD. Astrocyte Oligodendrocyte P a t h o g e n e s i s AQP4 is the most widely expressed water channel in the brain, spinal cord, and optic nerves. Within the brain, AQP4 is located in regions in contact with cerebrospinal fluid, and is specifically Neuron localised to the foot processes of astrocytes at the blood brain Myelin sheath Axon MOG barrier. 2,5 AQP4 is also present in the collecting ducts of the kidney, (b) Complement parietal cells of the stomach, airways, secretory glands, and B-cell skeletal muscle. 6 However, these organs are relatively protected from antibody-mediated damage due to local complement inhibitors which are absent in the brain. 7 AQP4-IgG AQP4-Abs are predominantly of the IgG1-isotype. Experimental Astrocyte damage data suggest that AQP4-Abs induce interleukin-6 (IL-6) production in astrocytes expressing AQP4, and that IL-6 signalling to Neutrophil endothelial cells reduces blood-brain barrier function. 8 O n c e bound to the extracellular domain of the AQP4 receptor, AQP4-Abs result in complement- and cell-mediated astrocytic damage, in 9 addition to internalisation of the glutamate transporter EAAT-2. Eosinophil Relave preservaon The astrocyte is subsequently rendered powerless, ultimately of myelin culminating in withdrawal of support for surrounding cells such as oligodendrocytes and neurons. Granulocyte infiltration ensues, (c) Possible role of complement? B-cell matched by oligodendrocyte damage and demyelination (Fig 1 ). 10 In contrast to MS, the demyelination that is seen in NMOSD is a secondary event and occurs as a consequence of primary damage to astrocytes. Epidemiological and genetic factors MOG-IgG The reported incidence and prevalence of NMOSD are dependent on geographical location and ethnicity. Asians and those of African ancestry are at increased risk, with high mortality rates reported in the latter. 11,12 The incidence and prevalence of NMOSD ranges from 0.05–0.40 and 0.52–4.4 Lymphocyte Myelin loss per 100,000 people respectively.13 In contrast to MS, a latitude gradient for the prevalence of NMOSD has not been Fig 1. (a) This fi gure illustrates the sites of expression of aquaporin-4 substantiated. 14 As with many autoimmune diseases, females (AQP4) and myelin oligodendrocyte glycoprotein (MOG) in the central are more susceptible than males (3:1–9:1). 15 A female hormonal nervous system (CNS). AQP4 is expressed on astrocyte 'foot-like' basis for this association may be a factor but requires further processes at the blood-brain barrier. MOG is expressed on oligodendro- cytes on the outermost lamellae of myelin sheaths. (b) AQP4-Abs (IgG) study. 16 The median age at presentation is 39 years, but 15–20% are produced systemically by mature B-cells, and upon crossing the of patients may present to paediatricians (under 16 years) or blood-brain barrier, activate complement-mediated astrocyte damage. 15 elderly care physicians (greater than 65 years). C l u s t e r i n g o f There is relative preservation of myelin initially. The infl ammatory NMOSD in families is rare but recognised, suggesting complex milieu consists of neutrophils and eosiniphils. (c) MOG-Abs (IgG) are genetic susceptibility.17 A recent whole-genome sequence study also produced outside the CNS, and causes demyelination by mecha- identified genetic variants in the major histocompatibility region nisms that are poorly understood. Reprinted with permission from Whittam that contribute to NMOSD aetiology. 18 Approximately one in D, Wilson M, Hamid S et al . What’s new in neuromyelitis optica? A short review for the clinical neurologist. J Neurol 2017;264:2330–44. four patients with AQP4-Ab positive NMOSD have another coexisting autoimmune disease, eg myasthenia gravis, systemic lupus erythematosus (SLE), Sjogren’s and coeliac disease.19–22 Accordingly, specialties such as rheumatology should have a low threshold for testing AQP4-Abs; eg SLE patients with intractable Clinical presentation vomiting/hiccoughs or optic neuritis without obvious cause.
Recommended publications
  • Consensus Statement on Immune Modulation in Multiple Sclerosis
    [Downloaded free from http://www.annalsofian.org on Monday, June 8, 2020, IP: 202.164.42.67] View Point Consensus Statement On Immune Modulation in Multiple Sclerosis and Related Disorders During the COVID‑19 Pandemic: Expert Group on Behalf of the Indian Academy of Neurology Rohit Bhatia, M. V. Padma Srivastava, Dheeraj Khurana1, Lekha Pandit2, Thomas Mathew3, Salil Gupta4, Netravathi M5, Sruthi S. Nair6, Gagandeep Singh7, Bhim S. Singhal8 Department of Neurology, All India Institute of Medical Sciences, New Delhi, 1Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, 2Department of Neurology, K.S. Hegde Medical Academy, Mangalore, Karnataka, 3Department of Neurology, St John’s Medical College, Bangalore, Karnataka, 4Department of Neurology, Command Hospital Air Force, Bangalore, Karnataka, 5Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, 6Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, 7Department of Neurology, Dayanand Medical College and Hospital, Ludhiana, Punjab, 8Department of Neurology, Bombay Hospital, Mumbai, Maharashtra, India Abstract Knowledge related to SARS-CoV-2 or 2019 novel coronavirus (2019-nCoV) is still emerging and rapidly evolving. We know little about the effects of this novel coronavirus on various body systems and its behaviour among patients with underlying neurological conditions, especially those on immunomodulatory medications. The aim of the present consensus expert opinion document is to appraise the potential concerns when managing our patients with underlying CNS autoimmune demyelinating disorders during the current COVID-19 pandemic. Keywords: COVID 19, disease modifying therapy, immunotherapy, MOG, MS, NMOSD INTRODUCTION cough, myalgia and headache with acute respiratory distress syndrome (ARDS) being the most frequent complication, In December 2019, health authorities recognized an outbreak inducing mortality in six (15%) patients.
    [Show full text]
  • Pyrexia of Unknown Origin. Presenting Sign of Hypothalamic Hypopituitarism R
    Postgrad Med J: first published as 10.1136/pgmj.57.667.310 on 1 May 1981. Downloaded from Postgraduate Medical Journal (May 1981) 57, 310-313 Pyrexia of unknown origin. Presenting sign of hypothalamic hypopituitarism R. MARILUS* A. BARKAN* M.D. M.D. S. LEIBAt R. ARIE* M.D. M.D. I. BLUM* M.D. *Department of Internal Medicine 'B' and tDepartment ofEndocrinology, Beilinson Medical Center, Petah Tiqva, The Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel Summary least 10 such admissions because offever of unknown A 62-year-old man was admitted to hospital 10 times origin had been recorded. During this period, he over 12 years because of pyrexia of unknown origin. was extensively investigated for possible infectious, Hypothalamic hypopituitarism was diagnosed by neoplastic, inflammatory and collagen diseases, but dynamic tests including clomiphene, LRH, TRH and the various tests failed to reveal the cause of theby copyright. chlorpromazine stimulation. Lack of ACTH was fever. demonstrated by long and short tetracosactrin tests. A detailed past history of the patient was non- The aetiology of the disorder was believed to be contributory. However, further questioning at a previous encephalitis. later period of his admission revealed interesting Following substitution therapy with adrenal and pertinent facts. Twelve years before the present gonadal steroids there were no further episodes of admission his body hair and sex activity had been fever. normal. At that time he had an acute febrile illness with severe headache which lasted for about one Introduction week. He was not admitted to hospital and did not http://pmj.bmj.com/ Pyrexia of unknown origin (PUO) may present receive any specific therapy.
    [Show full text]
  • SERIES #3 Mlet's Gaoin Gmentum a Collaborative Series Brought to You by the Sumaira Foundation for NMO and the MOG Project ACUTE VS
    SERIES #3 MLet's gaOin Gmentum a collaborative series brought to you by The Sumaira Foundation for NMO and The MOG Project ACUTE VS. PREVENTIVE TREATMENTS: What's the difference? ACUTE PREVENTATIVE Acute attacks are suspected when Long-term treatment focused on symptoms last 24 hours or more. modification of the immune system to Medical tests are used to confirm the prevent relapses. attack. To limit overtreatment: usually Short-term treatment focused on recommend to hold preventive therapy to decreasing inflammation (steroids) and recurrent disease (but may consider it antibody removal (IVIG, PLEX). after a single severe attack). Typically started immediately after initial Many patients are on preventive presentation to avoid long-term damage. medications for years. Duration of treatment should be individualized to each patient. MOG antibody titers can decrease with treatment but this may not indicate monophasic disease. The link between MOG antibody titers, treatment and recurring relapses remains uncertain. COMMON TREATMENTS FOR MOG-AD IV STEROIDS S T N E M T A E ORAL R T IVIG A E STEROIDS T U C A PLEX COMMON TREATMENTS FOR MOG-AD S T IVIG N E M T A E R T E azathioprine V mycophenolate I T (CellCept) P (Imuran) A T N E V E R P rituximab (Rituxan) INTRAVENOUS (IV) STEROIDS (METHYLPREDNISOLONE) Acute Treatments HOW IT WORKS WHAT TO EXPECT Part of the drug class corticosteroids. In some cases, patients will be hospitalized for the course of their Acts as an anti-inflammatory agent to treatment, others receive infusion via outpatient services. slow the body’s response to injury or Can address symptoms as early as 2-3 days however recovery disease, including reducing swelling from damage varies.
    [Show full text]
  • Diagnostic Considerations in Acute Disseminated Encephalomyelitis and the Interface with MOG Antibody
    Review Article Diagnostic Considerations in Acute Disseminated Encephalomyelitis and the Interface with MOG Antibody Jonathan D. Santoro1,2,3,4 Tanuja Chitnis1,2 1 Department of Neurology, Massachusetts General Hospital, Boston, Address for correspondence Jonathan D. Santoro, MD, Department of Massachusetts, United States Neurology, Massachusetts General Hospital, 55 Fruit Street, ACC 708, 2 Department of Neurology, Harvard Medical School, Boston, Boston, MA 02114, United States (e-mail: [email protected]). Massachusetts, United States 3 Department of Neurology, Children’s Hospital of Los Angeles, Los Angeles, California, United States 4 Keck School of Medicine, University of Southern California, Los Angeles, California, United States Neuropediatrics Abstract Acute disseminated encephalomyelitis (ADEM) is a common yet clinically heterogenous syndrome characterized by encephalopathy, focal neurologic findings, and abnormal Keywords neuroimaging. Differentiating ADEM from other demyelinating disorders of childhood ► ADEM can be difficult and appropriate interpretation of the historical, clinical, and neurodiag- ► acute disseminated nostic components of a patient’s presentation is critical. Myelin oligodendrocyte glycopro- encephalomyelitis tein (MOG) antibody-associated diseases are a recently recognized set of disorders, which ► diagnosis include ADEM presentations, among other phenotypes. This review article discusses the ► treatment clinical diagnosis, differential diagnosis, interpretation of data, and treatment/prognosis of ► MOG antibody this unique syndrome with distinctive review of the spectrum of MOG antibodies. Introduction activated T cells recruits additional immune cells to the CNS leading to primary injury of white matter.7 Although more Acute disseminated encephalomyelitis (ADEM) is an immune- nuanced than described, for the scope of this review, the mediated disorder of the central nervous system (CNS), affect- authors will focus on the clinical aspects of the disease and ing both children and adults.
    [Show full text]
  • Hypothalamic Hamartoma
    Neurol Med Chir (Tokyo) 45, 221¿231, 2005 Hypothalamic Hamartoma Kazunori ARITA,KaoruKURISU, Yoshihiro KIURA,KojiIIDA*, and Hiroshi OTSUBO* Department of Neurosurgery, Graduate School of Biomedical Science, Hiroshima University, Hiroshima; *Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada Abstract The incidence of hypothalamic hamartomas (HHs) has increased since the introduction of magnetic resonance (MR) imaging. The etiology of this anomaly and the pathogenesis of its peculiar symptoms remain unclear, but recent electrophysiological, neuroimaging, and clinical studies have yielded important data. Categorizing HHs by the degree of hypothalamic involvement has contributed to the accurate prediction of their prognosis and to improved treatment strategies. Rather than undergoing corticectomy, HH patients with medically intractable seizures are now treated with surgery that targets the HH per se, e.g. HH removal, disconnection from the hypothalamus, stereotactic irradiation, and radiofrequency lesioning. Although surgical intervention carries risks, total eradication or disconnec- tion of the lesion leads to cessation or reduction of seizures and improves the cognitive and behavioral status of these patients. Precocious puberty in HH patients is safely controlled by long-acting gonadotropin-releasing hormone agonists. The accumulation of knowledge regarding the pathogenesis of symptoms and the development of safe, effective treatment modalities may lead to earlier interven- tion in young HH patients and prevent
    [Show full text]
  • MOG Antibody Positive Optic Perineuritis: an Observational Study in Han Chinese
    MOG Antibody Positive Optic Perineuritis: an Observational Study in Han Chinese CHAO MENG Beijing Tongren Hospital https://orcid.org/0000-0002-9011-6693 Jia-wei Wang Beijing Tongren Hospital Lei Liu Beijing Tongren Hospital Wen-jing Wei Beijing Tongren Hospital Jian-hua Tao Beijing Tongren Hospital Yong Li Beijing Tongren Hospital Qing-lin Yang Beijing Tongren Hospital Chun-tao Lai ( [email protected] ) Beijing Tongren Hospital, Capital Medical University https://orcid.org/0000-0002-4407-498X Research Keywords: Myelin oligodendrocyte glycoprotein (MOG), optic perineuritis, optic neuritis, magnetic resonance imaging, clinical features,epilepsy,meningitis,meningoencephalitis,prognosis Posted Date: March 16th, 2021 DOI: https://doi.org/10.21203/rs.3.rs-266843/v1 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Page 1/16 Abstract Objective To shed light on the clinical characteristics, magnet resonance imaging(MRI) changes, and prognosis of myelin oligodendrocyte glycoprotein antibody (MOG-IgG) positive OPN in Han Chinese. Methods We observed 39 MOG-IgG positive patients in our ward from January 1, 2017 , to December 31, 2019. Twenty patients met OPN inclusion criteria included contrast enhancement surrounding the optic nerve, and at least one of the following clinical symptoms: 1) reduction of visual acuity, 2) impairment of visual eld, and 3) eye pain. Single course group(n=11) and recurrence group(n=9) were used for comparison. Outcome variables included Wingerchuk visual acuity classication. Results Of the 20 patients with MOG-IgG positive OPN, 12(60%) were women. Ten cases (50%) presented with bilateral and 17 eyes (56.67%) with severe visual loss (SVL,≤ 0.1).
    [Show full text]
  • Pediatric Neuro-Ophthalmology
    Pediatric Neuro-Ophthalmology Second Edition Michael C. Brodsky Pediatric Neuro-Ophthalmology Second Edition Michael C. Brodsky, M.D. Professor of Ophthalmology and Neurology Mayo Clinic Rochester, Minnesota USA ISBN 978-0-387-69066-7 e-ISBN 978-0-387-69069-8 DOI 10.1007/978-0-387-69069-8 Springer New York Dordrecht Heidelberg London Library of Congress Control Number: 2010922363 © Springer Science+Business Media, LLC 2010 All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connec-tion with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not ­identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. While the advice and information in this book are believed to be true and accurate at the date of going to press, 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 re-spect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) To the good angels in my life, past and present, who lifted me on their wings and carried me through the storms.
    [Show full text]
  • NEUROLOGY in TABLE.Pdf
    ZAPORIZHZHIA STATE MEDICAL UNIVERSITY DEPARTMENT OF NEUROLOGY DISEASES NEUROLOGY IN TABLE (General neurology) for practical employments to the students of the IV course of medical faculty Zaporizhzhia, 2015 2 It is approved on meeting of the Central methodical advice Zaporozhye state medical university (the protocol № 6, 20.05.2015) and is recommended for use in scholastic process. Authors: doctor of the medical sciences, professor Kozyolkin O.A. candidate of the medical sciences, assistant professor Vizir I.V. candidate of the medical sciences, assistant professor Sikorskaya M.V. Kozyolkin O. A. Neurology in table (General neurology) : for practical employments to the students of the IV course of medical faculty / O. A. Kozyolkin, I. V. Vizir, M. V. Sikorskaya. – Zaporizhzhia : [ZSMU], 2015. – 94 p. 3 CONTENTS 1. Sensitive function …………………………………………………………………….4 2. Reflex-motor function of the nervous system. Syndromes of movement disorders ……………………………………………………………………………….10 3. The extrapyramidal system and syndromes of its lesion …………………………...21 4. The cerebellum and it’s pathology ………………………………………………….27 5. Pathology of vegetative nervous system ……………………………………………34 6. Cranial nerves and syndromes of its lesion …………………………………………44 7. The brain cortex. Disturbances of higher cerebral function ………………………..65 8. Disturbances of consciousness ……………………………………………………...71 9. Cerebrospinal fluid. Meningealand hypertensive syndromes ………………………75 10. Additional methods in neurology ………………………………………………….82 STUDY DESING PATIENT BY A PHYSICIAN NEUROLOGIST
    [Show full text]
  • Myelin Oligodendrocyte Glycoprotein (MOG) Antibody Disease
    MOG ANTIBODY DISEASE Myelin Oligodendrocyte Glycoprotein (MOG) Antibody-Associated Encephalomyelitis WHAT IS MOG ANTIBODY-ASSOCIATED DEMYELINATION? Myelin oligodendrocyte glycoprotein (MOG) antibody-associated demyelination is an immune-mediated inflammatory process that affects the central nervous system (brain and spinal cord). MOG is a protein that exists on the outer surface of cells that create myelin (an insulating layer around nerve fibers). In a small number of patients, an initial episode of inflammation due to MOG antibodies may be the first manifestation of multiple sclerosis (MS). Most patients may only experience one episode of inflammation, but repeated episodes of central nervous system demyelination can occur in some cases. WHAT ARE THE SYMPTOMS? • Optic neuritis (inflammation of the optic nerve(s)) may be a symptom of MOG antibody- associated demyelination, which may result in painful loss of vision in one or both eyes. • Transverse myelitis (inflammation of the spinal cord) may cause a variety of symptoms that include: o Abnormal sensations. Numbness, tingling, coldness or burning in the arms and/or legs. Some are especially sensitive to the light touch of clothing or to extreme heat or cold. You may feel as if something is tightly wrapping the skin of your chest, abdomen or legs. o Weakness in your arms or legs. Some people notice that they're stumbling or dragging one foot, or heaviness in the legs. Others may develop severe weakness or even total paralysis. o Bladder and bowel problems. This may include needing to urinate more frequently, urinary incontinence, difficulty urinating and constipation. • Acute disseminated encephalomyelitis (ADEM) may cause loss of vision, weakness, numbness, and loss of balance, and altered mental status.
    [Show full text]
  • Diencephalic Syndrome: a Cause of Failure to Thrive and a Model of Partial Growth Hormone Resistance
    Diencephalic Syndrome: A Cause of Failure to Thrive and a Model of Partial Growth Hormone Resistance Amy Fleischman, MD*; Catherine Brue, MD*; Tina Young Poussaint, MD‡; Mark Kieran, MD, PhD§࿣; Scott L. Pomeroy, MD, PhD࿣¶; Liliana Goumnerova, MD࿣#; R. Michael Scott, MD࿣#; and Laurie E. Cohen, MD*࿣ ABSTRACT. Diencephalic syndrome is a rare but po- total of 48 similar cases, including the 12 described tentially lethal cause of failure to thrive in infants and by Russell. Since then, several case studies have been young children. The diencephalic syndrome includes reported with similar symptoms, a few with brain clinical characteristics of severe emaciation, normal lin- tumors located in the posterior fossa.2,3 Nystagmus ear growth, and normal or precocious intellectual devel- and vomiting were also noted in the majority of opment in association with central nervous system tu- reported cases.2–5 In 1976, a review of 72 cases by mors. Our group initially described a series of 9 patients 6 with diencephalic syndrome and found a reduced prev- Burr confirmed the clinical characteristics of dience- alence of emesis, hyperalertness, or hyperactivity com- phalic syndrome. Subsequent literature has consisted pared with previous reports. Also, the tumors were found of multiple case series and case reports of this to be larger, occur at a younger age, and behave more syndrome. aggressively than similarly located tumors without dien- We reviewed the 11 cases of diencephalic syn- cephalic syndrome. We have been able to extend our drome that presented to Children’s Hospital Boston follow-up of the original patients, as well as describe 2 and Dana-Farber Cancer Institute between 1970 and additional cases.
    [Show full text]
  • Full Disclosures
    ARTICLE OPEN ACCESS Differential Binding of Autoantibodies to MOG Isoforms in Inflammatory Demyelinating Diseases Kathrin Schanda, MSc, Patrick Peschl, PhD, Magdalena Lerch, MSc, Barbara Seebacher, PhD, Correspondence Swantje Mindorf, MSc, Nora Ritter, MSc, Monika Probst, PhD, Harald Hegen, MD, PhD, Dr. Reindl [email protected] Franziska Di Pauli, MD, PhD, Eva-Maria Wendel, MD, Christian Lechner, MD, Matthias Baumann, MD, Sara Mariotto, MD, PhD, Sergio Ferrari, MD, Albert Saiz, MD, PhD, Michael Farrell, MD, Maria Isabel S. Leite, MD, DPhil, Sarosh R. Irani, MD, DPhil, Jacqueline Palace, FRCP, DM, Andreas Lutterotti, MD, Tania Kumpfel,¨ MD, Sandra Vukusic, MD, Romain Marignier, MD, PhD, Patrick Waters, PhD, Kevin Rostasy, MD, Thomas Berger, MD, Christian Probst, PhD, Romana Hoftberger,¨ MD, and Markus Reindl, PhD Neurol Neuroimmunol Neuroinflamm 2021;8:e1027. doi:10.1212/NXI.0000000000001027 Abstract Objective To analyze serum immunoglobulin G (IgG) antibodies to major isoforms of myelin oligo- dendrocyte glycoprotein (MOG-alpha 1-3 and beta 1-3) in patients with inflammatory de- myelinating diseases. Methods Retrospective case-control study using 378 serum samples from patients with multiple sclerosis (MS), patients with non-MS demyelinating disease, and healthy controls with MOG alpha-1- IgG positive (n = 202) or negative serostatus (n = 176). Samples were analyzed for their reactivity to human, mouse, and rat MOG isoforms with and without mutations in the extra- cellular MOG Ig domain (MOG-ecIgD), soluble MOG-ecIgD, and myelin from multiple species using live cell-based, tissue immunofluorescence assays and ELISA. Results The strongest IgG reactivities were directed against the longest MOG isoforms alpha-1 (the currently used standard test for MOG-IgG) and beta-1, whereas the other isoforms were less frequently recognized.
    [Show full text]
  • Acoustic Neurinoma. See Vestibular Schwannomas Acquired
    3601_e28index_p591-606 2/19/02 9:09 AM Page 591 Index Page numbers followed by “f” indicate figures; numbers followed by “t” indicate tables; “CF” indicates color figures. Acoustic neurinoma. See Vestibular schwannomas Amenorrhea-galactorrhea syndrome, 168 Acquired immunodeficiency disease (AIDS) Amifostine and neuroprotection, 407 lymphomatous meningitis and, 376 Amputation and cancer pain, 506–7 Acromegaly, 210 Amyloid neuropathy, 402 Acroparesthesia, 398 Analgesics. See also Cancer pain Acute radiation syndrome, 574–75 adjuvant drugs, 517t–518t, 524–25 Addiction and opioid analgesics, 523 nonopioid, 510–11, 510t Adenocarcinoma of anterior skull base, 316 opioid. See Opioid analgesics Adenohypophysis, 208. See also Pituitary tumors Anemia and behavioral changes, 560 Adenoid cystic carcinoma of anterior skull base, 316 Aneurysms, neoplastic, 457 Adenoma sebaceum and tuberous sclerosis, 96 Angiography, cerebral, 282–84, 283f Adenomas. See also Pituitary tumors Angiomas, cavernous, 20–21 imaging, 11, 14f Antibodies and paraneoplastic neurologic disease, 424, 425t Adjustment disorders, 578–79. See also Psychological issues Anticonvulsants, 576. See also Seizure, treatment for cancer pain, prevalence, 573 524–25 Adjuvant drugs. See also specific medications neurobehavioral changes, 560 adverse effects of, 559–60 Antidepressants, 579–81, 579t analgesic, 517t–518t, 524–25 Antiemetics Adrenal dysfunction after cancer treatment, 540 and seizures, 441 Adrenocorticotropin (ACTH) and syncope, 448 after cancer treatment, 538 Antihistamines and brain
    [Show full text]