Periodic Alternating Nystagmus Associated with Joubert Syndrome

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Identifier 20180304_nanos_posters_119
Title Periodic Alternating Nystagmus Associated with Joubert Syndrome
Creator Hak-Seung Lee; Jae-Hwan Choi; Eun Hye Oh; Jae-Ho Jung; Seo Young Choi; Kwang-Dong Choi; Min-Ji Kim; Sang-Ho Kim
Affiliation (HL) Department of Neurology, Wonkwang University Hospital, Iksan, Korea, Republic of; (JC) (EHO) Department of Neurology, Pusan National University Yangsan Hospital, Busan, Korea, Republic of; (JJ) Department of Ophthalmology, Pusan National University Yangsan Hospital, Yangsan, Korea, Republic of; (SYC) (KC) (MK) Department of Neurology, Pusan National University Hospital, Busan, Korea, Republic of; (SK) Department of Neurology, Dong-A University Hospital, Busan, Korea, Republic of
Subject Nystagmus
Description Joubert syndrome is a rare autosomal recessive genetic disorder characterized by ataxia, hypotonia, development delay, and "molar tooth sign" on a MRI scan. Since it affects the brainstem and cerebellar vermis, various oculomotor abnormalities have been described. We report a patient with Joubert syndrome showing torsional pendular nystagmus (PN) and periodic alternating nystagmus (PAN).
Date 2018-03
Language eng
Format application/pdf
Type Text
Source 2018 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS 2018: Poster Presentations
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management Copyright 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6pk4g8g
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Setname ehsl_novel_nam
ID 1309432
Reference URL https://collections.lib.utah.edu/ark:/87278/s6pk4g8g