| Identifier |
walsh_2002_s4_c5 |
| Title |
Like Son, Like Father |
| Creator |
Karl C. Golnik |
| Subject |
Diplopia; Insomnia, Ataxia; Vertigo; Dysarthria; Esotropia; Fatal Familial; Prion Diseases; Point Mutation |
| History |
A 69-year old male with difficulty sleeping and diplopia. |
| Pathology |
Neuronal loss and gliosis with spongiform change in the calcarine cortex. |
| Disease/Diagnosis |
Fatal familial insomnia |
| Clinical |
VA: 20/40 OU |
| Presenting Symptom |
Insomnia; Binocular diplopia; Neurological deterioration |
| Neuroimaging |
MRI/MRA |
| Treatment |
N/A |
| Date |
2002 |
| References |
1. Medori R, Tritschler HJ, LeBlanc A, et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med 1992a;326:444-9. 2. Reder AT, Mednick AS, Brown P, et al. Clinical and genetic studies of fatal familial insomnia. Neurology 1995;45:1068-75. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
28th Annual North American Neuro-Ophthalmology Society Meeting, Frank B. Walsh Session CD-ROM |
| Relation is Part of |
Case 5, Session IV, Walsh Session, NANOS 2002 |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2008. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6k64mtk |
| Contributor Primary |
Golnik, Karl C. |
| Contributor Secondary |
Helsinger, Brenda; Dimeshkieh, Haytham; De Courten-Myers, Gabrielle |
| Setname |
ehsl_novel_fbw |
| ID |
177675 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6k64mtk |
