Search

Background: Cerebral vascular malformations (CVMs) may result in hemorrhage, seizure, neurologic dysfunction, and death. CVMs include capillary telangiectasias, venous malformations, cavernous malformations, and arteriovenous malformations. Cavernous and arteriovenous malformations carry the highest risk of complications. Retinal venous malformations (RVMs) have been proposed as an associated finding. Our objective was to determine the prevalence of RVMs in patients with high-risk CVMs., Methods: We retrospectively reviewed patients diagnosed with cerebral cavernous or arteriovenous malformations (high-risk CVMs) who were evaluated by the ophthalmology service at Northwestern University between 2017 and 2020. Patients were stratified into 3 cohorts based on level of certainty: dilated funduscopic examination (DFE), DFE with any form of ocular imaging, and DFE with complete imaging of the macula. We recorded ophthalmic examination abnormalities, ocular imaging findings, and major CVM complications., Results: We evaluated 156 patients with high-risk CVMs who had undergone DFE. Ocular imaging of any type was performed in 56 patients, of whom 46 had complete imaging of the macula. Zero RVMs were identified in any cohort (95% confidence interval: 0%-1.9% for the entire cohort, 0%-5.4% for any ocular imaging cohort, and 0%-6.5% for the complete macular imaging cohort). Cerebral hemorrhage or seizure occurred in 15%-33% of patients. Associated visual field defects or cranial nerve palsies were found in 14%-20% of patients., Conclusions: Zero RVMs were identified in patients with high-risk CVMs. However, neuro-ophthalmic findings were common. Therefore, we recommend neuroimaging for patients with RVMs and neuro-ophthalmic signs or symptoms. In asymptomatic patients with RVMs, a potential algorithm for neuroimaging is proposed., Competing Interests: J. A. Lavine is a consultant for Genentech for work unrelated to this study. All other authors report no conflicts of interest., (Copyright © 2023 by North American Neuro-Ophthalmology Society.)

Abstract: Hemorrhagic lateral geniculate nucleus (LGN) insults are rare but have been reported in association with tumors, vascular malformations, and trauma. The localization of LGN lesions is facilitated by recognition of pathognomonic visual field defects. A 21-year old woman developed a sudden onset painless left homonymous horizontal sectoranopia. Magnetic resonance imaging revealed a hemorrhagic cavernous malformation of the right temporal lobe. Optical coherence tomography (OCT) and Humphrey perimetry findings localized the lesion to the right LGN. Specifically, OCT testing revealed a right homonymous sectoranopia pattern of hemi-retinal macular ganglion layer-inner plexiform layer (mGCIPL) thinning contralateral to the left sided visual field defect. The OCT pattern reflected retrograde neuroaxonal degeneration from the right LGN lesion. This case highlights a unique pattern of mGCIPL thinning characteristic for a posterior lateral choroidal artery injury, affecting the LGN. These findings illustrate how functional eloquence correlates with topographical elegance in the afferent visual pathway., Competing Interests: The authors report no conflicts of interest., (Copyright © 2020 by North American Neuro-Ophthalmology Society.)

A 30-year-old woman presented with diplopia after resection of an intracranial cavernous malformation. Fundus examination showed an asymptomatic intraocular cavernous hemangioma of the retina. Clinicians should be aware of the potential coexistence of intraocular and intracranial cavernous malformations; the presence of both should suggest familial etiology. As with other intracranial and intraocular vascular lesions (e.g., arteriovenous malformation in Wyburn-Mason syndrome, retinal hemangioblastoma in von Hippel Lindau disease, and choroidal hemangioma in Sturge-Weber syndrome), the presence of a vascular lesion in either location should prompt evaluation for additional pathology.

Hypertrophic olivary degeneration (HOD) is secondary degeneration of the inferior olivary nucleus (ION) due to a primary lesion in the dento-rubro-olivary pathway. This pathway is known as the Guillain and Mollert triangle, containing the dentate nucleus and the contralateral red and inferior olivary nuclei (figure e-1 on the Neurology® Web site at www.neurology.org). The commonest presenting symptom is palatal myoclonus occurring 8-12 months after the primary insult. MRI of the ION initially has normal results (figure 1). Three phases of HOD exist on MRI: hyperintense signal change without hypertrophy, hyperintense signal change with hypertrophy (figure 2), and regression of hypertrophy with persistent hyperintense signal.(1.)

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.

Introduction: Cavernous hemangiomas or cavernomas are uncommon vascular malformations of the central nervous system involving most commonly the cerebral hemispheres where they are detected in young to middle aged adults. We present an unusual case of acute monoparesis caused by an intramedullary cavernoma in a woman of advanced age., Case Report: A 67-year-old woman presented with walking difficulties with acute onset 2 months previously. On neurologic examination, there was a pure right leg monoparesis with moderate spasticity. Tendon reflexes were brisk and there was a Babinski's sign in her right lower limb. The initial diagnosis was lacunar stroke, but the brain magnetic resonance imaging revealed a right temporal cavernoma-obviously not associated with her monoparesis. The consequent spinal MRI revealed an intramedullary lesion at the T1 level, consistent with a cavernoma., Conclusion: Our patient presented with an acute monoparesis because of a spinal cavernoma, a most unusual occurrence.

A decade of empirical work in brain imaging, genomics, and other areas of research has yielded new knowledge about the frequency of incidental findings, investigator responsibility, and risks and benefits of disclosure. Straightforward guidance for handling such findings of possible clinical significance, however, has been elusive. In early work focusing on imaging studies of the brain, we suggested that investigators and institutional review boards must anticipate and articulate plans for handling incidental findings. Here we provide a detailed analysis of different approaches to the problem and evaluate their merits in the context of the goals and setting of the research and the involvement of neurologists, radiologists, and other physicians. Protecting subject welfare and privacy, as well as ensuring scientific integrity, are the highest priorities in making choices about how to handle incidental findings. Forethought and clarity will enable these goals without overburdening research conducted within or outside the medical setting.

Cerebral cavernous malformations (CCM) are CNS vascular anomalies associated with seizures, headaches, and hemorrhagic strokes. The CCM1 gene was screened in 35 sporadic cases with either single or multiple CCM. It was found that 29% of the individuals with multiple CCM have a CCM1 mutation, whereas cases with only one malformation have none. Sporadic cases with multiple malformations warrant the same approach as individuals who have a familial history of CCM.

The somatosensory (haptic) vertical (HV) and visual vertical (VV) were assessed in two patients with vestibular nuclear lesions. Patient 1 had paroxysmal nystagmus, and was tested "on" and "off." The HV was normal "on" and "off" but the VV was severely tilted during vestibular paroxysms. Patient 2, with a brainstem stroke, was tested at months 1 and 6. The VV was severely tilted on both occasions (>12 degrees) but the HV was marginally tilted (4 degrees) in the acute stage only. These VV-HV dissociations suggest that vestibular nuclear lesions influence gravity perception mostly via ocular torsional effects rather than by disrupting a single, internal representation of verticality.

A 15-year-old boy who developed severe headaches and an incomplete homonymous hemianopia was found to have a large, well-circumscribed, multilobulated intracranial mass in the contralateral occipital lobe. The initial impression was that of a low-grade glioma or a vascular malformation. When the lesion increased in size and complexity, concern arose about the possibility of a malignant glioma. Upon craniotomy, it proved to be a giant cerebral cavernous malformation. This case is remarkable in that most cavernous malformations do not become symptomatic before the third decade of life and rarely attain such a large size.

Purpose: Cavernous hemangiomas with a spinal epidural location are very uncommon vascular tumors in contrast to those in the vertebral body. The purpose of this study was to describe the radiologic findings, focusing on the MR studies, of spinal epidural cavernous hemangiomas., Method: Five pathologically proven cases of spinal epidural cavernous hemangioma were retrospectively reviewed. MR (n = 5) and CT (n = 1) were evaluated., Results: The level was thoracic (n = 4) or lumbosacral (n = 1). The mass was located in the epidural space and showed paravertebral extension in all cases. It showed a lobulated contour in all cases and encircled the spinal cord partially with a larger posterior (n = 3) or anterior (n = 1) component in four cases. In all cases, the mass showed high signal intensity on T2-weighted images and homogeneous, strong enhancement. Adjacent bony erosion (n = 5) and intervertebral neural foraminal widening (n = 4) were common., Conclusion: Spinal epidural cavernous hemangioma shows characteristic MR findings of a lobulated contoured epidural mass partially encircling the spinal cord with a larger posterior component in the spinal canal, high signal intensity on T2-weighted images, and homogeneous, strong enhancement.