Cavernous Malformation of the Optic Nerve Mimicking Optic Neuritis
Authors:
- Alfonso CeraseACAlfonso Cerase
- Rossella FranceschiniRFRossella Franceschini
- Stefania BattistiniSBStefania Battistini
- Ignazio Maria ValloneIVIgnazio Maria Vallone
- Silvana PencoSPSilvana Penco
- Carlo VenturiCVCarlo Venturi
- 1 June 2010
- journal article
- case report
- Published by Wolters Kluwer Health in Journal of Neuro-Ophthalmology
- Vol. 30 (2) , 126-131
Abstract
A 30-year-old woman developed acute visual loss and optic disc elevation in the left eye after breastfeeding her second son. The initial diagnosis was optic neuritis. However, MRI showed a lesion in left intraorbital and intracanalicular optic nerve and several cerebral lesions with imaging features of cerebral cavernous malformations (CCMs). Genetic testing was positive for abnormalities known to predispose to CCMs in the patient and her father, who also showed MRI evidence of CCMs. During a 44-month follow-up period in which no intervention took place, the patient's vision in the affected eye fluctuated but eventually became extinguished. Serial MRIs did not always show lesion changes that explained the visual deterioration. In familial CCM, pregnancy might be a "second hit" to genetically predisposed tissue.Keywords
This publication has 42 references indexed in Scilit:
- A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cellsHuman Molecular Genetics, 2008
- MRI of optic neuritis in a rat modelNeuroImage, 2008
- Status cataplecticus misdiagnosed as recurrent syncopeNeurological Sciences, 2007
- Cavernoma of the trochlear nerveClinical Neurology and Neurosurgery, 2007
- Complete resection of a cavernous haemangioma of the optic nerve, the chiasm, and the optic tractActa Neurochirurgica, 2007
- Giant cavernous hemangiomas: report of three casesNeurosurgical Review, 2006
- Cavernous haemangiomas of the anterior visual pathways. Short review on occasion of an exceptional caseActa Neurochirurgica, 2006
- Biological activity of adult cavernous malformations: a study of 56 patientsJournal of Neurosurgery, 2005
- A Review of 244 Orbital Tumors in Japanese Patients During a 21-Year Period: Origins and LocationsJapanese Journal of Ophthalmology, 2005
- Hereditary cancer: Two hits revisitedJournal of Cancer Research and Clinical Oncology, 1996