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De Novo Cavernoma in the Sensory Cortex Causing Cervicobrachialgia
... Its prevalence ranges from 0.1% to 0.8% in the recent literature, accounting for 8 -15% of cerebral and spinal arteriovenous Keywords trans-sulcal approach, ultrasonography neuronavigation, intra-operative neurophysiological monitoring, cortical motor map, motor cortex cavernoma malformations. Their formation is related to gene mutations such as CCM1, CCM2, and CCM3, which can occur in hereditary and sporadic forms [5]. They commonly comprise different presentation hemorrhages and calcifications according to age [6]. ...
Introduction: Cavernomas are benign hamartomas of cerebral and spinal vessels, accounting for less than 1% of all arteriovenous malformations. In general, surgical resection is the treatment of choice for enlarging cavernomas or those associated with medically refractory seizures. Herein, we report a case of an enlarged deep precentral gyrus cavernoma, with a discussion of the surgical approach and the impact of intra-operative neurophysiological monitoring on the preservation of motor function.
Case description: A 30-year-old male was referred to our hospital due to 2-month history of focal seizures. Initial magnetic resonance imaging revealed right precentral cavernoma with minimal right parietal subarachnoid haemorrhage. Revealed the location of the cavernoma deep in the right primary motor cortex. Surgery was performed, trans-sulcal dissection was done with the aid of intraoperative ultrasonography neuro-navigation. The cortical motor map was localized by functional mapping with intra-operative neurophysiological monitoring, including somatosensory evoked potentials (SEP) and motor evoked potentials (MEP). Post-operatively, the left side weakness grade was 4/5, and the Glasgow coma scale was 15. Postoperative imaging confirmed successful resection of the cavernoma and associated hemosiderin ring with no SAH.
Conclusion: The use of preoperative MRI and intraoperative ultrasonography supplemented by neurophysiological monitoring utilizing SEP, MEP, and cortical mapping is essential for the safe resection of paracentral cavernomas.
Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aiding in planning the surgical treatment. The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas. We concisely review the literature and discuss the advantages and limitations of each of the three available methods of treatment-microsurgical resection, stereotactic radiosurgery, and conservative management-depending on the lesion characteristics.
Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1-0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells. Mutations lead to the development of abnormal vascular structures. In this article, we review the clinical features, molecular and genetic basis of the disease, and management. European Journal of Human Genetics (2012) 20, 134-140; doi:10.1038/ejhg.2011.155; published online 10 August 2011
Based on the latest gnomAD dataset, the prevalence of symptomatic hereditary cerebral cavernous malformations (CCMs) prone to cause epileptic seizures and stroke-like symptoms was re-evaluated in this review and calculated to be 1:5,400-1:6,200. Furthermore, state-of-the-art molecular genetic analyses of the known CCM loci are described which reach an almost 100% mutation detection rate for familial CCMs if whole genome sequencing is performed for seemingly mutation-negative families. An update on the spectrum of CCM1, CCM2, and CCM3 mutations demonstrates that deep-intronic mutations and submicroscopic copy-number neutral genomic rearrangements are rare. Finally, this review points to current guidelines on genetic counselling, neuroimaging, medical as well as neurosurgical treatment and highlights the formation of active patient organizations in various countries.
Cavernous malformations (CMs) are angiographically occult vascular malformations that are frequently found incidentally on MR imaging. Despite this benign presentation, these lesions could cause symptomatic intracranial hemorrhage, seizures, and focal neurological deficits. Cavernomas can be managed conservatively with neuroimaging studies, surgically with lesion removal, or with radiosurgery. Considering recent studies examining the CM's natural history, imaging techniques, and possible therapeutic interventions, the authors provide a concise review of the literature and discuss the optimal management of incidental CMs.
Literature reports on the natural history of cerebral cavernous malformations (CMs) are numerous, with considerable variability in lesion epidemiology, hemorrhage rates, and risk factors for hemorrhage. In this review, the authors performed a meta-analysis of 11 natural history studies. The overall male-to-female ratio was 1:1, and the mean age at presentation was 30.6 years. Overall, 37% of patients presented with seizures, 36% with hemorrhage, 23% with headaches, 22% with focal neurological deficits, and 10% were asymptomatic. Some patients had more than one symptom. Seizure presentation was most prevalent among supratentorial CMs, while focal neurological deficits were common in patients with infratentorial CMs. By location, CMs were in the cerebral hemispheres (66%), brainstem (18%), basal ganglia or thalamus (8%), cerebellum (6%), and other (2.5% [combined supra- and infratentorial, callosal or insular]). Overall, 19% of patients harbored multiple intracranial CMs, and 9% had radiographically apparent associated developmental venous anomalies. An overall annual hemorrhage rate of 2.4% per patient-year (range 1.6%-3.1%) was identified across 3 studies. Prior hemorrhage and female sex were risk factors for bleeding, while CM size and multiplicity did not affect hemorrhage rates. Although not impacting the hemorrhage rate itself, deep location was a risk factor for increased clinical aggressiveness.
Cavernous malformations of the brain (CMs) cause intracranial hemorrhage, but its reported frequency varies, partly attributable to study design. To improve the validity of future research, we aimed to develop a robust definition of CM hemorrhage.
We systematically reviewed the published literature (Ovid Medline and Embase to June 1, 2007) for definitions of CM hemorrhage used in studies of the untreated clinical course of >or=20 participants with CM(s), to inform the development of a consensus statement on the clinical and imaging features of CM hemorrhage at a scientific workshop of the Angioma Alliance.
A systematic review of 1426 publications about CMs in humans, revealed 15 studies meeting our inclusion criteria. Although 14 (93%) studies provided a definition of CM hemorrhage, data were less complete on the confirmatory type(s) of imaging (87%), whether CM hemorrhage should be clinically symptomatic (73%), and whether hemorrhage had to extend outside the CM or not (47%). We define a CM hemorrhage as requiring acute or subacute onset symptoms (any of: headache, epileptic seizure, impaired consciousness, or new/worsened focal neurological deficit referable to the anatomic location of the CM) accompanied by radiological, pathological, surgical, or rarely only cerebrospinal fluid evidence of recent extra- or intralesional hemorrhage. The definition includes neither an increase in CM diameter without other evidence of recent hemorrhage, nor the existence of a hemosiderin halo.
A consistent approach to clinical and brain imaging classification of CM hemorrhage will improve the external validity of future CM research.
The incidence and natural history of the cavernous angioma have remained unclear in part because of the difficulty of diagnosing and following this lesion prior to surgical excision. The introduction of magnetic resonance (MR) imaging has improved the sensitivity and specificity of diagnosing and following this vascular malformation. Seventy-six lesions with an MR appearance typical of a presumed cavernous angioma were discovered in 66 patients among 14,035 consecutive MR images performed at the Cleveland Clinic between 1984 and 1989. Follow-up studies in 86% of the cases over a mean period of 26 months provided 143 lesion-years of clinical survey of this condition. The most frequent presenting features were seizure, focal neurological deficit, and headache. While most lesions exhibited evidence of occult bleeding on MR imaging, there was overt hemorrhage in seven of the 57 symptomatic patients and only one overt hemorrhage occurred during the follow-up interval. The annualized bleeding rate was 0.7%. Analysis of the hemorrhage group revealed a significantly greater risk of overt hemorrhage in females. Pathological confirmation of cavernous angioma was obtained in all 14 surgical cases. This information assists in rational therapeutic planning and prognosis in patients with MR images showing lesions suggestive of cavernous angioma.
We studied 24 patients with histologically verified cerebral cavernous malformations, reviewing the familial occurrence and presenting signs, symptoms, and radiographic features of the disorder. Eleven patients had no evidence of a heritable trait and had negative family histories. Thirteen patients were members of six unrelated Mexican-American families. Sixty-four first-degree and second-degree relatives were examined, and family pedigrees were established. Most relatives (83 percent) were asymptomatic; 11 percent had seizures. Magnetic resonance imaging was performed in 16 relatives (5 of whom were asymptomatic). Fourteen of the 16 studies revealed cavernous malformations; 11 studies identified multiple lesions. As compared with computerized tomography and angiography, magnetic resonance imaging was far more accurate in detecting cavernous malformations. We conclude that cavernous malformations are more prevalent than previously reported, and that a familial form of the disorder exists that is more common than expected, with a high incidence of multiple lesions and an increased frequency of occurrence among Mexican-American families. Magnetic resonance imaging is the radiographic technique of choice for the identification and follow-up of these lesions.
The angiographic, computerized tomography (CT), and magnetic resonance imaging (MRI) findings were compared in 10 patients with a total of 16 pathologically verified cavernous angiomas. Only three lesions had abnormal vasculature in the form of venous pooling or a capillary blush. The CT scans were positive in seven patients and detected 14 lesions, while high-field strength (1.5 Tesla) MRI was positive in each case and demonstrated 27 distinct lesions. On T2-weighted MRI, the combination of a reticulated core of mixed signal intensity (SI) with a surrounding rim of decreased SI strongly suggests the diagnosis of a cavernous malformation. Smaller lesions appear as areas of decreased SI (black dots). The sensitivity of MRI is based on magnetic susceptibility and possibly diffusion effects related to field heterogeneity that is more conspicuous on high-field imaging and caused by the presence of excessive iron (hemosiderin).
A retrospective analysis of 139 patients with brain stem cavernous malformations is presented. The material consists of 41 cases from Bern and Phoenix and 98 further well-documented cases from the literature. Sixty-eight patients were male, 70 were female. The average age was 31.8 + 11.8 years. Sixty-two percent of the cavernous malformations were in the pons, 14% were in the mesencephalon, 12% were in the pontomesencephalic and in the pontomedullary junction, and 5% were in the medulla. Eighty-eight percent of the patients showed evidence of recent or previous hemorrhage, 55% had one hemorrhage. 17% had two hemorrhages, and 17% had three or more hemorrhages. Twelve patients died from a hemorrhage, 5 with the first bleeding and 7 with a rebleeding. The minimum bleeding rate was 2.7% per year and the average rebleeding rate 21% per year and per lesion. Most lesions had a diameter between 10 and 30 mm. Increase in size was observed in 12 of the patients; this corresponds to about 21% when only patients with a follow-up of at least one year are considered. In 93 patients the cavernous malformation was removed operatively while in 30 patients the lesion was not removed. In the group with conservative management at the end of the observation period (up to 25 and 32 years), 66.6% had no or only a slight neurological deficit, 6.7% were moderately disabled, 6.7% were completely dependent, and 20% had died. In the group treated surgically 83.9% had no or only a slight neurological deficit, and 15% were moderately disabled. One patient remained severely disabled, no patient died. The limitations of the retrospective nature of this study are stressed.
Concurrent lesions in the brain and spinal cord, which can produce similar symptoms are truly confusing situations. Herein, we report on a 56-year-old woman who suffered from an intermittent radicular pain and paresthesia in her right upper limb and mild headache. Imaging showed a cervical vertebral disc herniation and a small round tumor of the somatosensory cortex with clear border, considered as a little meningioma, which could be followed. To deal with these two concurrent lesions, we faced a challenging condition.
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