Behr's Syndrome Is Typically Associated with Disturbed
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COVID-19 Presenting with Ophthalmoparesis from Cranial Nerve Palsy
CLINICAL/SCIENTIFIC NOTES COVID-19 presenting with ophthalmoparesis from cranial nerve palsy Marc Dinkin, MD, Virginia Gao, MD, PhD, Joshua Kahan, MBBS, PhD, Sarah Bobker, MD, Correspondence Marialaura Simonetto, MD, Paul Wechsler, MD, Jasmin Harpe, MD, Christine Greer, MD, Gregory Mints, MD, Dr. Dinkin Gayle Salama, MD, Apostolos John Tsiouris, MD, and Dana Leifer, MD [email protected] Neurology® 2020;95:221-223. doi:10.1212/WNL.0000000000009700 Neurologic complications of COVID-19 are not well described. We report 2 patients who were RELATED ARTICLE diagnosed with COVID-19 after presenting with diplopia and ophthalmoparesis. Editorial Cranial neuropathies and COVID-19: Neurotropism Case 1 and autoimmunity A 36-year-old man with a history of infantile strabismus presented with left ptosis, diplopia, and Page 195 bilateral distal leg paresthesias. He reported subjective fever, cough, and myalgias which had developed 4 days earlier and resolved before presentation. Examination was notable for left MORE ONLINE mydriasis, mild ptosis, and limited depression and adduction, consistent with a partial left oculomotor palsy. Abduction was limited bilaterally consistent with bilateral abducens palsies COVID-19 Resources (figure, A). Lower extremity hyporeflexia and hypesthesia, and gait ataxia were noted. WBC was For the latest articles, 2.9 × 103/μL with an absolute lymphocyte count of 0.9 × 103/μL. Nasal swab for SARS-CoV-2 invited commentaries, and PCR was positive. MRI revealed enhancement, T2-hyperintensity, and enlargement of the left blogs from physicians oculomotor nerve (figure, B–D). Chest radiograph was unremarkable. The next day, there was around the world worsening left ptosis, complete loss of depression and horizontal eye movements on the left and NPub.org/COVID19 loss of abduction on the right. -
Peripheral Neuropathy in Complex Inherited Diseases: an Approach To
PERIPHERAL NEUROPATHY IN COMPLEX INHERITED DISEASES: AN APPROACH TO DIAGNOSIS Rossor AM1*, Carr AS1*, Devine H1, Chandrashekar H2, Pelayo-Negro AL1, Pareyson D3, Shy ME4, Scherer SS5, Reilly MM1. 1. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. 2. Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. 3. Unit of Neurological Rare Diseases of Adulthood, Carlo Besta Neurological Institute IRCCS Foundation, Milan, Italy. 4. Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA 5. Department of Neurology, University of Pennsylvania, Philadelphia, PA 19014, USA. * These authors contributed equally to this work Corresponding author: Mary M Reilly Address: MRC Centre for Neuromuscular Diseases, 8-11 Queen Square, London, WC1N 3BG, UK. Email: [email protected] Telephone: 0044 (0) 203 456 7890 Word count: 4825 ABSTRACT Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy e.g. spasticity, the type of neuropathy, and the other neurological and non- neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories - 1) ataxia, 2) spasticity, and 3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy e.g. -
Genes in Eyecare Geneseyedoc 3 W.M
Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease. -
Central Retinal Artery Occlusion with Ophthalmoparesis In
[Downloaded free from http://www.neurologyindia.com on Thursday, March 05, 2015, IP: 202.177.173.189] || Click here to download free Android application for this journal Letters to Editor 3. Antic B, Roganovic Z, Tadic R, Ilic S. Chondroma of the cervical spinal canal. Case report. J Neurosurg Sci 1992;36:239-41. Central retinal artery occlusion 4. Baber WW, Numaguchi Y, Kenning JA, Harkin JC. Periosteal chondroma of the cervical spine: One more cause of neural foramen enlargement. with ophthalmoparesis in Surg Neurol 1988;29:149-52. 5. Calderone A, Naimark A, Schiller AL. Case report 196: Juxtacortical spontaneous carotid artery chondroma of C2. Skeletal Radiol 1982;8:160-3. 6. Lozes G, Fawaz A, Perper H, Devos P, Benoit P, Krivosic I, dissection et al. Chondroma of the cervical spine. Case report. J Neurosurg 1987;66:128-30. 7. Maiuri F, Corriero G, De Chiara A, Giamundo A, Benvenuti D, Sir, Gangemi M. Chondroma of the cervical spine: A case report. Acta Neurol Spontaneous carotid arterial dissection is a nontraumatic (Napoli) 1980;2:204-8. tear or disruption in the wall of the internal carotid artery 8. Palaoglu S, Akkas O, Sav A. Chondroma of the cervical spine. Clin Neurol Neurosurg 1988;90:253-5. (ICA) without a clear etiology. It represents a major cause 9. Shurland AT, Flynn JM, Heller GD, Golden JA. Tumor of the cervical of stroke in younger patients, comprising about 10–25% spine in an 11-year-old girl [clinical]. Clin Orthop Relat Res 1999:287- of ischemic cerebral events. Patients can present with a 90, 293-5. -
9, 2015 Glasgow, Scotland, United Kingdom Abstracts
Volume 23 Supplement 1 June 2015 www.nature.com/ejhg European Human Genetics Conference 2015 June 6 - 9, 2015 Glasgow, Scotland, United Kingdom Abstracts EJHG_OFC.indd 1 4/1/2006 10:58:05 AM ABSTRACTS European Human Genetics Conference joint with the British Society of Genetics Medicine June 6 - 9, 2015 Glasgow, Scotland, United Kingdom Abstracts ESHG 2015 | GLASGOW, SCOTLAND, UK | WWW.ESHG.ORG 1 ABSTRACTS Committees – Board - Organisation European Society of Human Genetics ESHG Office Executive Board 2014-2015 Scientific Programme Committee European Society President Chair of Human Genetics Helena Kääriäinen, FI Brunhilde Wirth, DE Andrea Robinson Vice-President Members Karin Knob Han Brunner, NL Tara Clancy, UK c/o Vienna Medical Academy Martina Cornel, NL Alser Strasse 4 President-Elect Yanick Crow, FR 1090 Vienna Feliciano Ramos, ES Paul de Bakker, NL Austria Secretary-General Helene Dollfus, FR T: 0043 1 405 13 83 20 or 35 Gunnar Houge, NO David FitzPatrick, UK F: 0043 1 407 82 74 Maurizio Genuardi, IT E: [email protected] Deputy-Secretary-General Daniel Grinberg, ES www.eshg.org Karin Writzl, SI Gunnar Houge, NO Treasurer Erik Iwarsson, SE Andrew Read, UK Xavier Jeunemaitre, FR Mark Longmuir, UK Executive Officer Jose C. Machado, PT Jerome del Picchia, AT Dominic McMullan, UK Giovanni Neri, IT William Newman, UK Minna Nyström, FI Pia Ostergaard, UK Francesc Palau, ES Anita Rauch, CH Samuli Ripatti, FI Peter N. Robinson, DE Kristel van Steen, BE Joris Veltman, NL Joris Vermeesch, BE Emma Woodward, UK Karin Writzl, SI Board Members Liaison Members Yasemin Alanay, TR Stan Lyonnet, FR Martina Cornel, NL Martijn Breuning, NL Julie McGaughran, AU Ulf Kristoffersson, SE Pascal Borry, BE Bela Melegh, HU Thomas Liehr, DE Nina Canki-Klain, HR Will Newman, UK Milan Macek Jr., CZ Ana Carrió, ES Markus Nöthen, DE Tayfun Ozcelik, TR Isabella Ceccherini, IT Markus Perola, FI Milena Paneque, PT Angus John Clarke, UK Dijana Plaseska-Karanfilska, MK Hans Scheffer, NL Koen Devriendt, BE Trine E. -
A Review of Neuro-Ophthalmologic Emergencies Type of Article: Review
A Review of Neuro-ophthalmologic Emergencies Type of Article: Review Bassey Fiebai Department of Ophthalmology, University of Port Harcourt Teaching Hospital, Port Harcourt, Nigeria The emphasis of this review are the emergencies where ABSTRACT failure to recognize the early stages of these diseases result Background 2,3,4 in adverse prognosis . These emergencies can be grouped Neuro-ophthalmic emergencies are relatively uncommon, 1 into four major categories for ease of diagnosis (Table 1) . however their outcome cause severe morbidity and even The first 3 groups are based on initial symptoms and the last mortality. The ocular manifestations of these disorders are group accommodates other disease conditions that pointers to a more dangerous central nervous system or constitute a neuro-ophthalmic emergency but do not systemic pathology. The review aims to highlight the major strictly fall under the other 3 groups. The review aims to ocular disorders that constitute neuro-ophthalmologic highlight the major ocular disorders that constitute neuro- emergencies with a view to increasing the index of ophthalmologic emergencies with a view to increasing the suspicion of these visual/life threatening disorders among index of suspicion of these visual/life threatening primary care physicians, neurologists and disorders among primary care physicians, neurologists and ophthalmologists. ophthalmologists by providing relevant information on the clinical presentation and management of these Method emergencies. The available literature on neuro-ophthalmologic -
Dominant Optic Atrophy
Lenaers et al. Orphanet Journal of Rare Diseases 2012, 7:46 http://www.ojrd.com/content/7/1/46 REVIEW Open Access Dominant optic atrophy Guy Lenaers1*, Christian Hamel1,2, Cécile Delettre1, Patrizia Amati-Bonneau3,4,5, Vincent Procaccio3,4,5, Dominique Bonneau3,4,5, Pascal Reynier3,4,5 and Dan Milea3,4,5,6 Abstract Definition of the disease: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The disease affects primary the retinal ganglion cells (RGC) and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the lateral geniculus in the brain. Epidemiology: The prevalence of the disease varies from 1/10000 in Denmark due to a founder effect, to 1/30000 in the rest of the world. Clinical description: DOA patients usually suffer of moderate visual loss, associated with central or paracentral visual field deficits and color vision defects. The severity of the disease is highly variable, the visual acuity ranging from normal to legal blindness. The ophthalmic examination discloses on fundoscopy isolated optic disc pallor or atrophy, related to the RGC death. About 20% of DOA patients harbour extraocular multi-systemic features, including neurosensory hearing loss, or less commonly chronic progressive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like illness, spastic paraplegia or cataracts. Aetiology: Two genes (OPA1, OPA3) encoding inner mitochondrial membrane proteins and three loci (OPA4, OPA5, OPA8) are currently known for DOA. Additional loci and genes (OPA2, OPA6 and OPA7) are responsible for X-linked or recessive optic atrophy. -
Optic Atrophy, Cataracts, Lipodystrophy/Lipoatrophy and Peripheral Neuropathy Caused by a De Novo OPA3 Mutation
Downloaded from molecularcasestudies.cshlp.org on September 24, 2021 - Published by Cold Spring Harbor Laboratory Press Optic atrophy, cataracts, lipodystrophy/lipoatrophy and peripheral neuropathy caused by a de novo OPA3 mutation Short Running Title: OPA3 mutation causing peripheral neuropathy Stephanie C. Bourne,1 Katelin N. Townsend,2,3 Casper Shyr,2,3 Allison Matthews,2,3 Scott A. Lear,4 Raj Attariwala,5 Anna Lehman,2 Wyeth W. Wasserman,2,3 Clara van Karnebeek,2,3 Graham Sinclair,6 Hilary Vallance,6 William T. Gibson2,3 1. Department of Microbiology and Immunology, Dalhousie University, Halifax, NS, Canada 2. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada 3. Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada 4. Faculty of Health Sciences, Simon Fraser University, Vancouver, BC, Canada 5. AIM Medical Imaging, Vancouver, BC, Canada 6. Department of Pathology, British Columbia Children's Hospital, Vancouver, BC, Canada Correspondence concerning this article should be addressed to William T Gibson, E-Mail: [email protected] Downloaded from molecularcasestudies.cshlp.org on September 24, 2021 - Published by Cold Spring Harbor Laboratory Press Abstract We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a de novo c.235C>G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was later shown to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant OPA3 mutations. Introduction Pathogenic rare variants in OPA3 have previously been shown to cause optic atrophy, with either autosomal dominant or autosomal recessive inheritance (Sergouniotis et al. -
Eleventh Edition
SUPPLEMENT TO April 15, 2009 A JOBSON PUBLICATION www.revoptom.com Eleventh Edition Joseph W. Sowka, O.D., FAAO, Dipl. Andrew S. Gurwood, O.D., FAAO, Dipl. Alan G. Kabat, O.D., FAAO Supported by an unrestricted grant from Alcon, Inc. 001_ro0409_handbook 4/2/09 9:42 AM Page 4 TABLE OF CONTENTS Eyelids & Adnexa Conjunctiva & Sclera Cornea Uvea & Glaucoma Viitreous & Retiina Neuro-Ophthalmic Disease Oculosystemic Disease EYELIDS & ADNEXA VITREOUS & RETINA Blow-Out Fracture................................................ 6 Asteroid Hyalosis ................................................33 Acquired Ptosis ................................................... 7 Retinal Arterial Macroaneurysm............................34 Acquired Entropion ............................................. 9 Retinal Emboli.....................................................36 Verruca & Papilloma............................................11 Hypertensive Retinopathy.....................................37 Idiopathic Juxtafoveal Retinal Telangiectasia...........39 CONJUNCTIVA & SCLERA Ocular Ischemic Syndrome...................................40 Scleral Melt ........................................................13 Retinal Artery Occlusion ......................................42 Giant Papillary Conjunctivitis................................14 Conjunctival Lymphoma .......................................15 NEURO-OPHTHALMIC DISEASE Blue Sclera .........................................................17 Dorsal Midbrain Syndrome ..................................45 -
COVID-19 Presenting with Ophthalmoparesis from Cranial Nerve Palsy Marc Dinkin MD
Published Ahead of Print on May 1, 2020 as 10.1212/WNL.0000000000009700 NEUROLOGY DOI: 10.1212/WNL.0000000000009700 COVID-19 presenting with ophthalmoparesis from cranial nerve palsy Marc Dinkin MD1,2, Virginia Gao MD PhD1, Joshua Kahan MBBS PhD1, Sarah Bobker MD1, Marialaura Simonetto MD1, Paul Wechsler MD1, Jasmin Harpe MD1, Christine Greer MD2, Gregory Mints MD3, Gayle Salama MD4, Apostolos John Tsiouris MD4, Dana Leifer MD1 1Department of Neurology, Weill Cornell Medical College 2Department of Ophthalmology, Weill Cornell Medical College 3Department of Medicine, Weill Cornell Medical College 4Department of Radiology, Weill Cornell Medical College Corresponding Author: Marc Dinkin, MD, [email protected] Word count (text): 739; Character count with spaces (title): 66; Number of references: 7; Number of tables: 0; Number of figures: 1; Search terms: [360] COVID-19, [142] Viral infections, [186] Neuro-opthalmology, [187] Ocular motility, [194] Diplopia Study funding No targeted funding reported. Disclosure The authors report no relevant disclosures. Copyright © 2020 Wolters Kluwer Health, Inc. Unauthorized reproduction of this article is prohibited. Neurological complications of COVID-19 are not well described. We report two patients who were diagnosed with COVID-19 after presenting with diplopia and ophthalmoparesis. Case 1: A 36-year-old man with a history of infantile strabismus presented with left ptosis, diplopia and bilateral distal leg paresthesias. He reported subjective fever, cough and myalgias which had developed 4 days earlier and resolved before presentation. Exam was notable for left mydriasis, mild ptosis and limited depression and adduction, consistent with a partial left oculomotor palsy. Abduction was limited bilaterally consistent with bilateral abducens palsies (Figure A). -
Mydriasis Associated with Local Dysfunction of Parasympathetic Nerves in Two Dogs
NOTE Internal Medicine Mydriasis Associated with Local Dysfunction of Parasympathetic Nerves in Two Dogs Teppei KANDA1), Kazuhiro TSUJI1), Keiko HIYAMA2), Takeshi TSUKA1), Saburo MINAMI1), Yoshiaki HIKASA1), Toshinori FURUKAWA3) and Yoshiharu OKAMOTO1)* 1)Department of Veterinary Medicine, Faculty of Agriculture, Tottori University, 4–101, Koyama-minami, Tottori 680–8553, 2)Takamori Animal Hospital, 3706–2, Agarimichi, Sakaiminato, Tottori 684–0033 and 3)Department of Comparative Animal Science, College of Life Science, Kurashiki University of Science and the Arts, 2640, Tsurajima-nishinoura, Kurashiki, Okayama 712–8505, Japan. (Received 13 August 2009/Accepted 16 November 2009/Published online in J-STAGE 9 December 2009) ABSTRACT. In clinical practice, photophobia resulting from persistent mydriasis may be associated with dysfunction of ocular parasympa- thetic nerves or primary iris lesions. We encountered a 5-year-old Miniature Dachshund and a 7-year-old Shih Tzu with mydriasis, abnormal pupillary light reflexes, and photophobia. Except for sustained mydriasis and photophobia, no abnormalities were detected on general physical examination or ocular examination of either dog. We performed pharmacological examinations using 0.1% and 2% pilo- carpine to evaluate and diagnose parasympathetic denervation of the affected pupillary sphincter muscles. On the basis of the results, we diagnosed a pupillary abnormality due to parasympathetic dysfunction and not to overt primary iris lesions. The test revealed that neuroanatomic localization of the lesion was postciliary ganglionic in the first dog. KEY WORDS: autonomic nervous system, canine, mydriasis, ophthalmology, tonic pupil. J. Vet. Med. Sci. 72(3): 387–389, 2010 Mydriasis and miosis are normal physiological reactions and we report herein the clinical features, diagnosis, and that allow the eye to adjust to the level of incoming light. -
Internuclear Ophthalmoplegia As a Presenting Feature in a COVID-19-Positive Patient Varshitha Hemanth Vasanthpuram,1 Akshay Badakere 2
Case report BMJ Case Rep: first published as 10.1136/bcr-2021-241873 on 13 April 2021. Downloaded from Internuclear ophthalmoplegia as a presenting feature in a COVID-19- positive patient Varshitha Hemanth Vasanthpuram,1 Akshay Badakere 2 1Ophthalmic Plastic Surgery SUMMARY was unremarkable. His vitals at the time of screening Services, LV Prasad Eye Institute, A 58-year -old man presented with vertical diplopia were 94% saturation of peripheral oxygen (SpO2), Hyderabad, India temperature of 35.8°C and pulse rate of 91 per 2 for 10 days which was sudden in onset. Extraocular Child Sight Institute, Jasti V movement examination revealed findings suggestive minute. His overall systemic status was stable, with Ramanamma Children’s Eye of internuclear ophthalmoplegia. Investigations were no respiratory symptoms noted. Care Centre, LV Prasad Eye Institute, Hyderabad, India suggestive of diabetes mellitus, and reverse transcription- PCR for SARS-CoV -2 was positive. At 3 weeks of INVESTIGATIONS follow-up , his diplopia had resolved. Neuro-ophthalmic Correspondence to Extraocular motility examination, the abducting manifestations in COVID-19 are increasingly being Dr Akshay Badakere; nystagmus in the left eye and the saccades were akshaybadakere@ gmail.com recognised around the world. Ophthalmoplegia due indicative of INO. Fatigue and ice pack test were to cranial nerve palsy and cerebrovascular accident negative. Initial blood investigations of complete Accepted 26 March 2021 in COVID-19 has been reported. We report a case blood count, lipid profile and 24- hour urine protein of internuclear ophthalmoplegia in a patient with were within normal range. Fasting and postprandial COVID-19. blood sugar levels were 121 mg/dL and 205 mg/dL, respectively, and haemoglobin A1c (HbA1c) was 7.5%, suggestive of diabetes mellitus.