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9 results on '"Yu, Amy W."'

8. A Case of Tolosa-Hunt Syndrome With Discoid Lupus Erythematosus

Author

Yu, Amy W., Finkelsztein, Eli J., and Cheng, Natalie T.

Abstract

The occurrence of Tolosa-Hunt syndrome (THS) in the setting of discoid lupus erythematosus (DLE) has not been previously reported. We report a case of a 55-year-old Chinese man with established cutaneous lupus who presented with 1 week of worsening blurry vision and ptosis of the left eye with severe headache 2 weeks prior to presentation. His cranial nerve examination was significant for left afferent pupillary defect, red desaturation, ptosis, and oculomotor nerve palsy. He also presented with active DLE lesions. Magnetic resonance imaging brain demonstrated asymmetric thickening and enhancement of the left cavernous sinus consistent with THS. After a 4-week gradual steroid taper his ophthalmoplegia resolved. The unusual occurrence of THS and DLE prompts consideration of nonsystemic autoimmune disorders in diagnosis of THS.

Published
2020
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9. Two cases of MT-ND5 -related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.

Author

Wilkins SR, Yu AW, Steigerwald C, Tanji K, Iglesias AD, Hirano M, Kister I, Riley CS, and Abreu NJ

Subjects
Humans, Aquaporin 4, Autoantibodies, Magnetic Resonance Imaging, Diagnostic Errors, Neuromyelitis Optica, Mitochondrial Diseases diagnosis, Mitochondrial Diseases genetics
Abstract

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease primarily affecting the optic nerves and spinal cord, which is usually associated with anti-aquaporin-4 antibodies. Here, we present two individuals who were negative for anti-aquaporin-4 antibodies and were initially diagnosed with seronegative NMOSD. Each patient's clinical course and radiographic features raised suspicion for an alternative disease process. Both individuals were found to have pathogenic variants of MT-ND5 , encoding subunit 5 of mitochondrial complex I, ultimately leading to a revised diagnosis of a primary mitochondrial disorder. These cases illustrate the importance of biochemical and genetic testing in atypical cases of NMOSD.

Published
2023
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