| Identifier |
walsh_2018_s2_c2-1 |
| Title |
Testing the Hypophysis - Abstract |
| Creator |
Alberto Distefano; Julie Cho; Adeniyi Fisayo; Mahsa Sohrab |
| Affiliation |
(AD) (JC) (AF) (MS) Yale School of Medicine, New Haven, Connecticut |
| Subject |
Erdheim-Chester disease, Orbital tumors, Proptosis |
| History |
A 60 year-old female with history of hypertension, hyperlipidemia, and Lyme disease 12 years ago treated with doxycycline, developed extreme thirst and polyuria four years ago and was diagnosed with central diabetes insipidus. Magnetic resonance imaging (MRI) at that time showed enhancement of the pituitary gland and stalk. She was treated with DDAVP with clinical improvement. Repeat MRI six months later showed some improvement. She underwent extensive testing including Positron Emission Tomograpy/Computed Tomography (PET/CT) and lumbar puncture, which were inconclusive or indeterminate. Her disease was categorized as idiopathic hypophysitis and infundibulitis. One year ago, the patient underwent right ear surgery, and afterward developed dizziness. MRI was performed and showed bilateral intraconal enhancing masses with proptosis. The previously noted hypophyseal enhancement had resolved. She was started on oral prednisone 60 milligrams (mg) without significant improvement, and was then referred to our ophthalmology clinic for further evaluation. On exam, best corrected visual acuity was 20/30 in the right eye and 20/25 in the left eye. Pupils were briskly reactive without relative afferent pupillary defect. Intraocular pressure was within normal limits. Motility was severely reduced in supraduction. Color plates were full bilaterally. Exam revealed mild proptosis greater on the left than the right. Otherwise, ophthalmic exam, including dilated fundus exam, was normal. Imaging was reviewed and an orbital biopsy was performed. |
| Disease/Diagnosis |
Erdheim-Chester disease |
| Presenting Symptom |
A 60 year-old female with history of hypertension, hyperlipidemia, and Lyme disease 12 years ago treated with doxycycline, developed extreme thirst and polyuria four years ago and was diagnosed with central diabetes insipidus. Magnetic resonance imaging (MRI) at that time showed enhancement of the pituitary gland and stalk. She was treated with DDAVP with clinical improvement. Repeat MRI six months later showed some improvement. She underwent extensive testing including Positron Emission Tomograpy/Computed Tomography (PET/CT) and lumbar puncture, which were inconclusive or indeterminate. Her disease was categorized as idiopathic hypophysitis and infundibulitis. One year ago, the patient underwent right ear surgery, and afterward developed dizziness. MRI was performed and showed bilateral intraconal enhancing masses with proptosis. The previously noted hypophyseal enhancement had resolved. She was started on oral prednisone 60 milligrams (mg) without significant improvement, and was then referred to our ophthalmology clinic for further evaluation. On exam, best corrected visual acuity was 20/30 in the right eye and 20/25 in the left eye. Pupils were briskly reactive without relative afferent pupillary defect. Intraocular pressure was within normal limits. Motility was severely reduced in supraduction. Color plates were full bilaterally. Exam revealed mild proptosis greater on the left than the right. Otherwise, ophthalmic exam, including dilated fundus exam, was normal. Imaging was reviewed and an orbital biopsy was performed. |
| Date |
2018-03 |
| References |
1. Adam Z, Balsikova K, Krejci M, et al. Central diabetes insipidus in adult patients--the first sign of Langerhans cell histiocytosis and Erdheim-Chester disease. Three case studies and literature review. Vnitr Lek 2010;56(2):138-48. 2. Merritt H, Pfeiffer ML, Richani K, Phillips ME. Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review. Orbit 2016;35(4):221-6. 3. Reithmeier T, Trost HA, Wolf S, et al. Xanthogranuloma of the Erdheim-Chester type within the sellar region: case report. Clin Neuropathol 2002;21(1):24-8. 4. Diamond EL, Dagna L, Hyman DM, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood 2014;124(4):483-92. 5. Caparros-Lefebvre D, Pruvo JP, Remy M, et al. Neuroradiologic aspects of Chester-Erdheim disease. AJNR Am J Neuroradiol 1995;16(4):735-40. 6. Manaka K, Makita N, Iiri T. Erdheim-Chester disease and pituitary involvement: a unique case and the literature. Endocr J 2014;61(2):185-94. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2018 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2018: Frank B. Walsh Session 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 84112-6064 |
| Rights Management |
Copyright 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6m36zbg |
| Setname |
ehsl_novel_fbw |
| ID |
1320230 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6m36zbg |
