| Identifier |
walsh_2009_s2_c3 |
| Title |
Cerebroretinal Microangiopathy with Calcification and Cysts in a Young Man-A Recently Described Syndrome |
| Creator |
Pari Shams; Ata Siddiqui; Lisa Scoppetuolo; Dominic Parviour; Moin Mohamed; Gordon Plant |
| Affiliation |
(AS) (LS) (DP) (MM) (GP) The Guys and St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom; (PS) Moorfields Eye Hospital, London, United Kingdom |
| Subject |
Calcification, Physiologic; Retinal Diseases; Retinal Telangiectasis; Retinal Vasculitis; Thrombotic Microangiopathies; Anemia, Macrocytic; Leukoencephalopathies |
| 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. |
| Pathology |
Calcification of basal ganglion, pons and temporal lobe. |
| Disease/Diagnosis |
Cerebroretinal microangiopathy with calcification and cysts |
| Clinical |
VA: 6/4 OD, 6/6 OS; Slow voluntary saccades; Bilateral hypertonia; Ischemic retinopathy; Left vitreous haze |
| Presenting Symptom |
Floaters OS |
| Neuroimaging |
CT; MRI |
| Treatment |
N/A |
| Date |
2009 |
| 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. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
41st Annual Frank Walsh Society Meeting |
| Relation is Part of |
NANOS Annual Meeting 2009 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Walsh Session Annual Meeting Archives: https://novel.utah.edu/Walsh/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2002. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s68d003g |
| Setname |
ehsl_novel_fbw |
| ID |
178730 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s68d003g |
