| Identifier |
walsh_2021_s2_c1-slides |
| Title |
A Definite Maybe |
| Creator |
Raghu Mudumbai; Alex Solomon |
| Affiliation |
(RM) (AS) University of Washington Medical Center, Seattle, Washington |
| Subject |
Myasthenia Gravis; Chronic Progressive External Ophthalmoplegia (CPEO); Autoimmune Diseases |
| History |
73 yo man French-Canadian presented to our institution for another opinion for a long standing diagnosis of Oculopharyngeal Dystrophy given at an outside institution. 17 years ago, the patient developed unfluctuating double vision that progressed to include severe, unfluctuating ptosis and mild dysphagia without involvement of the extremities or trunk. EMG at that time showed myopathy with mild involvement of the limbs and more significant involvement of the muscles of the eye and face. Prior testing was negative for acetylcholine receptor and MUSK antibodies. No other family member is affected. He denied any significant variability in his symptoms and thought it might be secondary to Agent Orange exposure. Examination showed normal vision and color vision, normally reactive pupils without an APD, and normal looking optic nerves and retina. He had severe ptosis requiring taping his eyelids up and severe limitation of eye movement in all fields of gaze. With the limited eye movements and use of prism, he was noted to be orthophoric at distance and and a 6PD exotropia at near. |
| Disease/Diagnosis |
Double Seronegative Anti-LRP4 Myasthenia Gravis |
| Date |
2021-02 |
| References |
1. Fortin E, Cestari DM, Weinberg DH. Ocular myasthenia gravis: an update on diagnosis and treatment. Curr Opin Ophthalmol. 2018 Nov;29(6):477-484. 2. Gilhus NE, Verschuuren JJ. Myasthenia gravis: subgroup classification and therapeutic strategies. Lancet Neurol. 2015. 3. Rivner MH, Quarles BM, Pan JX, Yu Z, Howard JF Jr, Corse A, et al Clinical features of LRP4/agrin-antibody-positive myasthenia gravis: A multicenter study. Muscle Nerve. 2020 Sep;62(3):333-343. 4. Tsivgoulis G, Dervenoulas G, Kokotis P, Zompola C, Tzartos JS, et al. Double seronegative myasthenia gravis with low density lipoprotein-4 (LRP4) antibodies presenting with isolated ocular symptoms. J Neurol Sci. 2014 Nov 15;346(1-2):328-30. 5. Xuan J, Yu Y, Qing T, Guo L, Shi L. Next-generation sequencing in the clinic: promises and challenges. Cancer Lett. 2013 Nov 1;340(2):284-95. |
| Language |
eng |
| Format |
application/pdf |
| Format Creation |
Microsoft PowerPoint |
| Type |
Text |
| Source |
53rd Annual Frank Walsh Society Meeting |
| Relation is Part of |
NANOS Annual Meeting Frank B. Walsh Sessions; 2021 |
| 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 2021. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6034qcp |
| Setname |
ehsl_novel_fbw |
| ID |
1694319 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6034qcp |
