| Identifier |
walsh_2023_s3_c4 |
| Title |
Lost in the Sauce |
| Creator |
Jessica Kraker, Lisa Schimmenti, John Chen |
| Affiliation |
(JK) (LS) (JC) Mayo Clinic |
| Subject |
Optic Neuropathy; Optic Atrophy; Metabolic Disease; Neurologic Disorders; Vision Loss Binocular |
| Description |
A 41-year-old male was referred to neuro-ophthalmology for "pseudotumor cerebri and hypertensive retinopathy" and decreased vision. Three months prior the examination, the patient reported a fairly rapid painless decline in the vision in both eyes over a week. He also reported heavy polysubstance abuse (1L cognac, 1 pack cigarettes, marijuana use daily), and had prior diagnoses of alcoholic cirrhosis and hypertension. Review of systems was positive for weight loss, abdominal pain, recurrent hematemesis, myalgias, paresthesias, frequent falls, peripheral neuropathy, and depressed mood. |
| Date |
2023-03 |
| References |
1) Marelli C, Salsano E, Politi LS, and Labauge P. Spinal cord involvement in adult-onset metabolic and genetic diseases. J Neurol Neurosurg Psychiatry. 2018;0:1-8. doi:10.1136/jnnp-2018-318666 2) Strovel ET, Cowan TM, Scott AI, Wolf B, on behalf of the ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee. Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. Genet Med. 2017;19(10):1-10. doi:10.1038/gim.2017.84 3) Bottin L, Prud'hon S, Guey S, Giannesini C, Wolf B, et al. Biotinidase deficiency mimicking neuromyelitis optica: initially exhibiting symptoms in adulthood. Mult Scler. 2015;21 12):1604-1607. 4) Deschamps R, Savatovsky J, Vignal C, Fisselier M, Imbard A, et al. Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. J Neurol Neurosurg Psychiatry. 2018;89:1009-1010. 5) Wolf B, Pomponio R, Norrgard K, Lott I, Baumgartner ER, et al. Delayed-onset profound biotinidase deficiency. J Pediatr. 1998;132(2):362-365. |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Source |
49th Annual North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2023: Walsh Society Session III: "Tomorrowland" : Learning From Pediatric Neuro-Ophthalmic Disorders: https://novel.utah.edu/collection/NAM/toc/ |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890 |
| Rights Management |
Copyright 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6pkdwv1 |
| Setname |
ehsl_novel_nam |
| ID |
2386045 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6pkdwv1 |
