| Identifier |
walsh_2014_s4_c5 |
| Title |
A TAAD Bit Unusual |
| Creator |
Nisreen K. Mesiwala, Susan T. Stefko |
| Subject |
Aneurysm; Cranial Nerve Palsies; Internal Carotid Artery; Diplopia; Ptosis |
| History |
A 12 year-old previously healthy boy presented to the emergency room with a five-day history of progressive frontal headaches and acute onset of horizontal, binocular diplopia on left gaze. He had no significant medical history and his only significant ocular history was mild myopia and X-linked color-blindness. On ophthalmic exam, his vision was 20/20 OU, he identified 1/11 color plates OU, and had a normal pupillary exam with no relative afferent pupillary defect. His extraocular movements were full OD, with a mild deficit on abduction OS, and visual fields were full to finger counting. His anterior segment exam and fundus exam were unremarkable. He was diagnosed with a partial left CN VI palsy, and an MRI showed a 4cm mass abutting the pituitary gland on the left. CTA confirmed the mass as an aneurysm arising from the cavernous portion of the left internal carotid artery measuring 3.8x3.7cm. Four days after admission, he developed right- sided hemiparesis and left pupil dilation. An angiogram indicated acute thrombosis of his left internal carotid artery and no filling of the aneurysm. MRI showed a left middle cerebral artery stroke with multiple embolic strokes distal to the aneurysm. On reexamination, his visual acuity was 20/40 OS with 8mm fixed, dilated left pupil, with no relative afferent pupillary defect by reverse and complete ophthalmoplegia OS with 4mm of ptosis, 2 mm of levator function OS, no intorsion, decreased facial sensation V1-V3 on the left, full confrontation visual fields OU and otherwise unremarkable anterior and fundus exams. About 2 weeks after admission, CTA showed a stable, thrombosed left ICA and he was discharged with improvement in his hemiparesis and no changes to his ophthalmic exam. |
| Disease/Diagnosis |
Thoracic Abdominal Aneurysms and Dissection (TAAD) Spectrum with MYH11 mutation. |
| Presenting Symptom |
A 12 year-old previously healthy boy presented to the emergency room with a five-day history of progressive frontal headaches and acute onset of horizontal, binocular diplopia on left gaze. |
| Neuroimaging |
Magnetic Resonance Imaging; Computer Tomography |
| Date |
2014-03 |
| References |
1. Kathiravel U, Keyser B, Hoffjan S, Kötting J, Müller M, et al. High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections. Mol Cell Probes; 27(2):103-8, 2013. 2. Zhu L, Vranckx R, Khau Van KP, Lalande A, Boisset N, et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet.; 38:343-349, 2006. 3. Regalado E, Medrek S, Tran-Fadulu V, Guo DC, Pannu H, et al. Autosomal Dominant Inheritance of a Predisposition to Thoracic Aortic Aneurysms and Dissections and Intracranial Saccular Aneurysms. Am J Med Genet A.; 0(9): 2125-2130, 2009. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Image |
| Source |
46th Annual Frank Walsh Society Meeting |
| Relation is Part of |
Case presented at the NANOS 2014 Walsh Session, March 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 84112-6278 |
| Rights Management |
Copyright 2014. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6r81bvt |
| Setname |
ehsl_novel_fbw |
| ID |
179215 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6r81bvt |
