| Identifier |
walsh_2020_s2_c1 |
| Title |
Not All Men With Thick Skulls Have High Testosterone (Video) |
| Creator |
Prem Subramanian |
| Affiliation |
(PS) Sue Anschutz-Rodgers UCHealth Eye Institute/Univ of Colorado School of Medicine, Aurora, Colorado |
| Subject |
Orbital Inflammation, Optic Disc Edema |
| History |
A 54-year-old retired USAF fighter pilot was referred in Aug 2016 for evaluation of possible bilateral optic disc swelling noted on routine optometric examination. His past medical history included low testosterone discovered 2 years prior in the context of fatigue and exercise intolerance. MRI brain at that time as well as serologic investigations for other hormonal abnormalities were normal by report, and he was using topical testosterone gel for replacement. Initial ophthalmologic exam showed normal visual acuity, color vision, and Humphrey visual fields. On fundus exam, both optic nerves were elevated without obvious swelling, fluorescein angiography showed no leakage, and OCT of the RNFL was normal in both eyes. The patient returned for surveillance in 3 months, at which time visual function remained normal but peripapillary hemorrhage was noted in the right eye. FA now had disc leakage OD. CT orbits (Fig 1) showed an ill-defined bilateral orbital process as well as diffuse bony thickening consistent with a prior diagnosis of osteopetrosis. MRI brain and orbits (Fig 2) confirmed an infiltrative process of the sella, cavernous sinuses, and orbits. Prolactin was mildly elevated (45.3 ng/ml) CBC, C-ANCA, and P-ANCA were normal. A diagnostic procedure was performed. |
| Disease/Diagnosis |
Erdheim Chester disease with BRAF V600E mutation positivity |
| Date |
2020-03 |
| References |
Blombery, Wong, Lade, Prince, Erdheim-Chester Disease Harboring the BRAF V600E Mutation, J Clin Oncol, 30, e331-e332, 2012. Diamond, Subbiah, Lockhart, Blay, Puzanov, Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis: Analysis of Data From the Histology-Independent, Phase 2, Open-label VE-BASKET Study, JAMA Oncol, 4, 384-388, 2018. |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Source |
2020 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting Frank B. Walsh Sessions; 2020 |
| 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 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6gn3gt3 |
| Setname |
ehsl_novel_fbw |
| ID |
1538212 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6gn3gt3 |
