Cerebroretinal Microangiopathy with Calcification and Cysts in a Young Man-A Recently Described Syndrome (Audio)

Update item information
Identifier walsh_2009_s2_c3_mp3
Title Cerebroretinal Microangiopathy with Calcification and Cysts in a Young Man-A Recently Described Syndrome (Audio)
Creator Shams, Pari
Subject Calcification, Physiologic; Retinal Diseases; Retinal Telangiectasis; Retinal Vasculitis; Thrombotic Microangiopathies; Anemia, Macrocytic; Leukoencephalopathies
Presenting Symptom Floaters OS
History A 24-year old male with a 2-month history of floaters affecting the left eye. Previous history significant for bilateral retinal vasculitis, migraine and complications of intrauterine growth retardation.
Clinical VA: 6/4 OD, 6/6 OS; Slow voluntary saccades; Bilateral hypertonia; Ischemic retinoapthy; Left vitreous haze
Neuroimaging CT; MRI
Pathology Calcification of basal ganglion, pons and temporal lobe.
Disease/Diagnosis Cerebroretinal microangiopathy with calcification and cysts
Treatment N/A
References 1. Linnankivi T, Valanne L, Paetau A, et al. Cerebroretinal microangiopathy with calcifications and cysts, Neurology, 67:1437-1443, 2006. 2. Briggs TA, Abdel-Salam GMH, Balicki M, et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), American Journal of Medical Genetics Part A, 146A:182-190, 2008. 3. Goutières F, Dollfus H, Becquet F and Dufier J-L. Extensive Brain Calcification in Two Children with Bilateral Coats' Disease, Neuropediatrics, 19-21, 1999. 4. Revesz T, Fletcher S, al-Gazali LI and DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?, J Med Genet, 29:673-5, 1992. 5. Sazgar M, Leonard NJ, Renaud DL, et al. Intracranial calcification, retinopathy, and osteopenia: a new syndrome?, Pediatr Neurol, 26:324-8, 2002.
Relation is Part of Session 2, Case 3, Walsh Session, NANOS 2009
Contributor Primary Shams, Pari
Contributor Secondary Siddiqui, Ata; Scoppetuolo, Lisa; Parviour, Dominic; Mohamed, Moin; Plant, Gordon
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2009-02-22
Type Sound
Format audio/mpeg
Source 41st Annual Frank Walsh Society Meeting
Rights Management Copyright 2009. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s6f76gdd
Setname ehsl_novel_fbw
Date Created 2012-06-06
Date Modified 2017-02-21
ID 179077
Reference URL https://collections.lib.utah.edu/ark:/87278/s6f76gdd
Back to Search Results