| Identifier |
walsh_2014_s1_c5-2 |
| Title |
A Case of Cotton Wool Spots |
| Creator |
Golnaz Moazami, Hermann D. Schubert, Jacinda Sampson, Claire Riley |
| Subject |
Hereditary; Retinopathy; Cerebrovascular; Endotheliopathy; Nephropathy |
| History |
A 31 year old Caucasian male was admitted to a local ER after being found unresponsive on a couch at home, incontinent of urine, and having vomited with tongue bruising. He was arousable in the ER but febrile to 102 F with WBC= 19,000. He was loaded with dilantin, and emergency CT showed a left posterior temporal lesion with surrounding edema. He was given IV dexamethasone, empirically started on vancomycin, ceftriaxone, and acyclovir. No LP was performed. He was transferred to our NICU for further work-up. An MRI with contrast was performed which showed multiple T2/FLAIR hyperintense foci within the subcortical and deep white matter. A rim-enhacing lesion was noted in the left posterior temporal lobe measuring 18 X 21 X 11 mm. . MR spectroscopy demonstrated slightly increased choline ratio and a lipid peak. His past history was notable for bilateral hip replacement secondary to avascular necrosis, "migraines' for the past three years, and "scotoma' in the right eye of unknown etiology with a reported negative MRI, MRA, and LP six months prior. Repeat imaging 3 days later showed no improvement on MRI, and a procedure was performed. The patient developed tingling of his lower extremities, uncontrolled hypertension, heptosplenomegaly,and proteinuria, at which point MRI of T and C-spine was performed and ophthalmology and nephrology consult requested.On exam, visual acuity was 20/20 OD and 20/50 OS. Slit lamp exam was negative. Color plates were 4/6 OU. He had no RAPD. A diagnostic procedure was performed. |
| Disease/Diagnosis |
Herns syndrome= hereditary endotheliopathy with retinopathy, nephropathy, and stroke. |
| Presenting Symptom |
A 31 year old Caucasian male was admitted to a local ER after being found unresponsive on a couch at home, incontinent of urine, and having vomited with tongue bruising. |
| Neuroimaging |
Magnetic Resonance Imaging |
| Date |
2014-03 |
| References |
1. Jen J, Cohen AH, Yue Q, Stout JT, Vinters HV, Nelson S, Baloh RW(1997) Hereditary endothelopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology 49: 1322-1330. 2. Cohn AC, Kotschet K, Veitch A, Delatycki MB, McCombe MF, Novel ophthalmological features in hereditary endotheliopathy, with retinopathy, nephropathy. Clin Experiment Ophthalmol. 2005 Apr; 33(2):181-3 3. Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP. New roles for the major human 3'-5' exonuclease TREX1 in human disease. Cell Cycle. 2008 Jun 15; 7(12):1718-25. Epub 2008 Jun 16. |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Source |
46th Annual Frank Walsh Society Meeting |
| Relation is Part of |
Case presented at the NANOS 2014 Walsh Session, March 2 |
| Collection |
Neuro-Ophthalmology Virtual Education Library - Walsh Session Annual Meeting Archives https://novel.utah.edu/Walsh/index3.html |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-6297 |
| Rights Management |
Copyright 2014. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6t1818b |
| Setname |
ehsl_novel_fbw |
| ID |
179230 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6t1818b |
