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11/34. Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.

    Familial cerebral cavernous malformation (CCM) exhibits autosomal dominant inheritance and is characterized by vascular disorders of the brain, which can lead to seizures, focal neurological deficits, hemorrhagic stroke, and migraine. Three CCM loci have been mapped, but the gene for only one locus--KRIT1 coding for Krev-1/rap1 interaction trapped 1 (KRIT1) protein, which is responsible for more than 40% of familial cases--has been identified. To date, a total of 72 mutations have been described, with one founder effect in the Mexican/Hispanic community. We report the case of an Italian family with CCM that has a novel KRIT1 gene mutation leading to a truncated KRIT1 protein. The protein truncation test (PTT) has been used as a rapid method of identifying germline mutations in the KRIT1 gene.
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12/34. Development of an intracranial ependymoma at the site of a pre-existing cavernous malformation.

    BACKGROUND: The ability of vascular anomalies to induce neoplastic transformation in normal brain parenchyma has been suggested but not demonstrated. We present a novel case in which a patient with a pre-existing cavernous malformation developed an adjacent ependymoma. CASE DESCRIPTION: A 72-year-old man developed an anaplastic ependymoma at the site of a pre-existing cavernous malformation. This is the first documented instance of an ependymoma developing at the site of an existing cavernous malformation. The colocalization of both lesions and the low incidence of supratentorial ependymomas in this age group makes it unlikely that their coexistence represents a random event. immunohistochemistry demonstrated vascular endothelial growth factor (VEGF) production by the cavernous malformation and robust VEGF receptor expression by the ependymoma. CONCLUSIONS: Based on these findings, we suggest that production of VEGF by vascular malformations may play a role in the neoplastic transformation of adjacent tissue.
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13/34. A minimally invasive approach to deep-seated brain lesions using balloon dilatation and ultrasound guidance.

    Conventional dissection techniques require the excision of a channel from the cortex through the white matter with suction and bipolar cautery for the excision of deep-seated brain lesions. An alternative approach, using a previously described technique, in four cases is illustrated in this article. After craniotomy and dural opening, the index finger portion of a surgical glove was removed, tied over a brain cannula and gently passed towards the lesion under ultrasound guidance. Once the needle-tip was sonologically confirmed to be on the lesion, the balloon was inflated with about 3 to 5 ml of saline. This created a track through which the lesion could be excised under the microscope. The lesions were satisfactorily excised through the track created without removal of brain tissue. The accuracy of this minimally invasive technique can be enhanced when used in conjunction with intraoperative ultrasound guidance.
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14/34. Seeding of a cavernous angioma with mycoplasma hominis: case report.

    OBJECTIVE AND IMPORTANCE: To describe a unique case of hematogenous seeding of a cavernous angioma with the commensal organism mycoplasma hominis. CLINICAL PRESENTATION: A 40-year-old female patient presented with a severe headache and acute left facial nerve palsy. Imaging studies revealed a right frontal mass lesion with characteristics of a cavernous angioma. INTERVENTION: The patient underwent a craniotomy for cavernous angioma resection. Purulent material was noted at the time of resection, and no hemorrhage was observed. Despite antibiotic therapy, the patient required repeat craniotomies for subsequent abscess treatment. M. hominis was identified as the pathogen. CONCLUSION: M. hominis is a rare cause of brain abscesses and can be difficult to eradicate. Cavernous angiomas can be seeded hematogenously.
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15/34. Dorsal foramenal extraosseous epidural cavernous hemangioma.

    Cavernous hemangiomas are vascular hamartomatous malformations that affect the central nervous system. This pathology is frequently encountered in the cerebral hemispheres, cerebellum, and brainstem. Cavernous hemangiomas infrequently occur at the spinal level or relative to an intramedullary localization; extramedullary epidural sites are also sometimes affected by this pathology. We report an extradural, extramedullary, cavernous hemangioma with foramenal extension of the dorsal section and discuss the differential diagnosis with dorsal foramenal neurinoma. A 52-year-old woman was admitted with irritation and deficit symptoms radiating into the left D3 spinal root space. The first radiological diagnosis was of a foramenal neurinoma beginning at the D3 root. The presence of a heterogeneous MR signal in both T1 and T2 images led us to consider the differential diagnosis of a cavernous hemangioma lesion. The patient underwent microsurgical treatment with a far lateral extraforamenal approach. Symptoms quickly improved: pain and dysesthesia disappeared after surgery and only light hypoesthesia was found. We want to stress the importance of MR imaging in formulating a correct differential diagnosis with foramenal neurinoma and underline that microsurgical treatment with a far lateral extraforamenal approach allowed us to remove the lesion completely without affecting Denis's posterior column, the lamina, and the articular facet.
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16/34. Dissociation of visual and haptic vertical in two patients with vestibular nuclear lesions.

    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.
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17/34. Cerebral cavernous malformations with dynamic and progressive course: correlation study with vascular endothelial growth factor.

    BACKGROUND: Cerebral cavernous malformations (CCMs) are reported to exhibit a wide range of dynamic patterns including growth, regression, and de novo formation, which generally show slow and steady courses. Although the pathogenesis of CCMs is not well known, vascular endothelial growth factor (VEGF) has been suggested as a possible mediating factor. OBJECTIVES: To report CCMs showing rapid progression over a short period and to investigate these biological characteristics. DESIGN: Experimental study. SETTING: Tertiary referral center, neurology department.Patient A 40-year-old man was admitted because of a left-sided numbness, vertigo, and ataxia, which were attributed to a pontine hemorrhage. He had experienced a left-sided weakness 6 months before admission, and thereafter had complained of intermittent headache. Serial brain magnetic resonance images showed multiple intracerebral microhemorrhages throughout the cerebral hemispheres. A biopsy of the lesion confirmed the diagnosis of CCM. MAIN OUTCOME MEASURES: We investigated the expression of VEGF by immunohistochemistry of the biopsy specimen. Dynamic patterns of CCMs, obtained with spin-echo magnetic resonance images with gradient-echo sequences, were compared with serial serum VEGF concentrations, determined by enzyme-linked immunosorbent assay. RESULTS: immunohistochemistry of the specimen displayed increased VEGF expression. Serial magnetic resonance images during 7 months showed dynamic signal changes of the preexisting lesions and 15 de novo formations in many cortices. The VEGF level in serum increased during this dynamic period and became normal during the steady and resolving stages. CONCLUSIONS: Cerebral cavernous malformations can be progressively deteriorating. The endothelial proliferation induced by VEGF is likely to be an important aspect of the pathogenetic mechanisms of CCMs.
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18/34. Successful brainstem cavernous malformation resection after repeated hemorrhages during pregnancy.

    BACKGROUND: pregnancy may be a risk factor for aggressive behavior in cavernous malformations. Relatively few cases exist in the literature and management is unclear. methods: This unique case report describes a 28-year-old female 27 weeks pregnant who presented with 2 hemorrhages from a pontine cavernous malformation within 1 week. morbidity increased with the second hemorrhage. RESULTS: The patient underwent a suboccipital craniotomy and excision of the cavernous malformation. She successfully delivered a normal child at 36 weeks gestation and is ambulatory and independent 3 months postoperatively. CONCLUSIONS: pregnancy and prior hemorrhage may be risk factors for repeated hemorrhages. Management decisions can be difficult during pregnancy, but successful excision during pregnancy is possible. The behavior of cavernous malformations and management decisions for this patient are discussed.
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19/34. Continuous laryngoscopic vocal cord monitoring for vascular malformation surgery in the medulla oblongata: technical note.

    OBJECTIVE: Resection of lesions located in the medulla oblongata may result in significant morbidity. The most lethal complications are swallowing disturbances, which can lead to aspiration pneumonia. To prevent this problem, the lower cranial nerves can be mapped with recording needles placed in the posterior pharyngeal wall and the tongue. However, mapping alone is not sufficient to preserve the lower cranial nerves and swallowing functions. To overcome this problem, we attempted to devise a method to intraoperatively monitor vocal cord movements with a laryngoscope. We used this method, in addition to other types of brainstem mapping, in three cases. methods: Recording needles were inserted into the posterior pharyngeal wall and the tongue, to record the responses of Cranial Nerves IX and XII. A laryngoscope was inserted orally, for direct observation of vocal cord movements, and was maintained until the end of the operation. The floor of the fourth ventricle was stimulated with a monopolar stimulator. Somatosensory evoked potentials, auditory evoked potentials, and motor evoked potentials were simultaneously monitored. RESULTS: We were able to confirm synchronized vocal cord adduction with stimulation of the expected vagal trigonum location and to monitor rhythmic vocal cord movements during spontaneous respiration. In all three cases, we removed the lesions without postoperative complications. CONCLUSION: In addition to intraoperative vocal cord monitoring with a laryngoscope, we could safely determine the optimal location for the first incision in the floor of the fourth ventricle. Potentially lethal postoperative complications can be avoided with brainstem mapping and vocal cord monitoring.
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20/34. Venous cavernoma at 8 Tesla MRI.

    Cavernous angiomas or cavernomas are vascular malformations, which may be associated with risk of bleeding episodes. We present a case report comparing high resolution 8 Tesla gradient echo (GE) imaging with routine fast spin echo (FSE) at 1.5 Tesla in a patient with venous cavernoma. A 55-year-old male with a history of hemorrhagic stroke was studied using high-resolution 8 Tesla magnetic resonance imaging (MRI) system, which revealed venous cavernoma (9 x 8.6 mm) in the left parietal region and visualized adjacent microvascular supply. Signal loss was prominent in the cavernoma region compared to surrounding brain tissue, and signal intensity declined by factor 7.3 /- 2.4 (679 /- 62%) on GE images at 8 Tesla. Cavernoma was not apparent on routine T(2)-weighted FSE images at 1.5 Tesla MRI. This case report indicates that GE images at 8 Tesla can be useful for evaluation of vascular pathologies and microvasculature.
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Last update: September 2014