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Midbrain cavernous malformations (MCMs) are rare and dangerous taken the important structures and tracts located in this segment of the brainstem. MCM treatment is still controversial, and surgical resection is basically indicated in cases of recurrent hemorrhage and progressive neurologic deterioration. The optimal moment to operate ruptured MCM is in the subacute stage. Once indicated for surgical resection, preoperative planning needs to be individualized. There are various ways to access midbrain lesions, depending on the extension and predominant location: lateral subtemporal, posterior transtentorial, interhemispheric transcallosal, and anterior temporopolar approaches, or some of the alternatives. The aim of this Video 1 case is to review the surrounding anatomic structures and demonstrate the advantages of the semisitting position and the viability of the supracerebellar infratentorial approach for a tegmental midbrain lesion.1-10 In this 2-dimensional video, we present an 18-year-old man with a 4-year history of diplopia and third nerve palsy, which worsened 10 days before admission. He underwent microsurgical total resection of this MCM via extreme lateral supracerebellar infratentorial approach in a semisitting position. At the end, the surgical site and surrounding structures were reviewed microscopically and endoscopically. The patient tolerated the surgery well, and the perioperative course was uneventful. His recovery was smooth but he maintained the previous oculomotor nerve palsy. We discuss important steps of the surgical approach, local neuroanatomy, and the microsurgical techniques for the resection of these challenging MCM. The goal is total resection of the MCM with the preservation of the developmental venous anomaly and the surrounding white fiber tracts.
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BACKGROUND: Cavernous malformations (CMs), also known as cavernomas or cavernous angiomas, are vascular malformations characterized by sinusoidal spaces lined by endothelial cells. Giant CMs (GCMs) are extremely rare, with limited understanding of their presentation and management. We present a case of symptomatic GCM in a newborn and review the literature on this rare entity. CASE DESCRIPTION: A 1-month-old newborn presented with focal seizures and signs of increased intracranial pressure. Imaging revealed a massive right frontal-parietal GCM, prompting surgical resection. Histopathological examination confirmed the diagnosis of cerebral cavernous malformation. The patient recovered well postoperatively with no neurological deficits. CONCLUSIONS: GCMs are exceedingly rare in children and have not been reported in newborns until now. Symptoms typically include seizures and mass effects. Gross total resection is the standard treatment, offering favorable outcomes. Further research is needed to understand the natural history and optimal management of GCMs, particularly in newborns, emphasizing the importance of heightened clinical awareness for timely diagnosis and appropriate management.
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Hemangioma Cavernoso do Sistema Nervoso Central , Feminino , Humanos , Masculino , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/patologia , Imageamento por Ressonância Magnética , LactenteRESUMO
BACKGROUND: Cerebral Cavernous Malformation (CCM) is one of the most common types of vascular malformation of the central nervous system. Intracerebral hemorrhage, seizures, and lesional growth are the main clinical manifestations. Natural history studies have tried to identify many risk factors; however, the clinical course remains highly unpredictable. OBJECTIVE: Here, we have analyzed a multicenter CCM cohort looking for the differential clinical data regarding the patients harboring supra and/or infratentorial cavernous malformations in order to better understand risk factors involved in the anatomical location of the unique neurosurgical disease. METHODS: We have presented a multicenter, Propensity Score Matched (PSM), case-control study including 149 consecutive CCM cases clinically evaluated from May 2017 to December 2022 from three different neurosurgical centers. Epidemiological data were defined at each clinical assessment. Logistic regression was used to identify the independent contribution of each possible risk factor to the bleeding risk. To balance baseline covariates between patients with and without symptoms, and specifically between those with and without symptomatic bleeding, we used a PSM strategy. The Kaplan-Meier curve was drawn to evaluate if patients with infratentorial lesions had a greater chance of bleeding earlier in their life. RESULTS: The presence of infratentorial lesions was a risk factor in the multivariate analysis comparing the bleeding risk with pure asymptomatic individuals (OR: 3.23, 95% CI 1.43 - 7.26, P = 0.005). Also, having an infratentorial CCM was a risk factor after PSM (OR: 4.56, 95% CI 1.47 - 14.10, P = 0.008). The presence of an infratentorial lesion was related to precocity of symptoms when the time to first bleed was compared to all other clinical presentations in the overall cohort (P = 0.0328) and in the PSM group (P = 0.03). CONCLUSION: Here, we have provided some evidence that infratentorial cerebral cavernous malformation may have a more aggressive clinical course, being a risk factor for symptomatic haemorrhage and precocity of bleeding.
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Hemorragia Cerebral , Hemangioma Cavernoso do Sistema Nervoso Central , Pontuação de Propensão , Humanos , Hemangioma Cavernoso do Sistema Nervoso Central/complicações , Masculino , Feminino , Fatores de Risco , Estudos de Casos e Controles , Adulto , Pessoa de Meia-Idade , Hemorragia Cerebral/epidemiologia , Hemorragia Cerebral/etiologia , Adulto Jovem , Adolescente , Criança , IdosoRESUMO
Cavernous malformations (CMs) are rare and often oligosymptomatic vascular lesions. The main symptoms include seizure and focal neurologic deficits.1-3 Depending on the symptomatology, location, size, and risk factors for bleeding, like the presence of a developmental venous anomaly, CMs can be highly morbid. Thus surgical resection may be considered. Deep-seated and eloquent CMs, like those in the uncus, can be challenging.4,5 In Video 1, we present a 23-year-old male adult who developed focal seizures (i.e., oral automatisms) after an episode of sudden intense headache 1 year ago. His neurologic examination was unremarkable. The patient consented to the procedure and publication of his image. Nevertheless, his magnetic resonance images showed an uncal 2-cm Zabramski type I CM. We exposed the insula and its limen through a right pterional craniotomy and transsylvian corridor. During the video, we discuss the surgical nuances to access and resect this CM lesion en bloc while preserving important vascular structures and white matter tracts. Postoperative neuroimaging demonstrated total resection. In postoperative day 1, the patient had 1 episode of generalized seizure and evolved with contralateral hemiparesis. The patient had a good recovery and was discharged on postoperative day 21. At the 6-month follow-up, the patient had no new epileptic events and presented complete weakness improvement. Through this minimally invasive and well-known surgical corridor, we preserve the mesial and lateral portion of the temporal lobe, reducing the risk of lesions to the Meyer loop and limbic association area.
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Hemangioma Cavernoso do Sistema Nervoso Central , Microcirurgia , Humanos , Masculino , Adulto Jovem , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Microcirurgia/métodos , Procedimentos Neurocirúrgicos/métodos , Imageamento Tridimensional , Imageamento por Ressonância MagnéticaRESUMO
Cavernous malformations (CMs) account for 10%-15% of all vascular malformations and represent the second most common type of cerebral vascular lesion.1 They typically occur in the cerebral subcortex or white matter.2 CMs located in the thalamus are rare.3 When we isolate the group of thalamic CMs, we find a bleeding risk of >5% per year, with a rebleeding rate exceeding 60%, often occurring within 1 year of the initial bleeding.1 The deep location and proximity to eloquent brain regions make thalamic CMs challenging for neurosurgeons.4,5 Surgeons can access the posterolateral thalamus through various surgical approaches, such as transcallosal transventricular, supracerebellar transtentorial, intraparietal sulcus, and transcortical methods. Selecting the best surgical approach requires considerable expertise, considering the patient's preoperative condition and the lesion's location.6-12 We discuss a complex case involving a 24-year-old patient with a right thalamic cavernoma and a history of 3 prior bleeding events. We present a step-by-step transcortical approach through the posterior portion of the superior temporal gyrus (Video 1). The patient consented to the procedure and publication of images. We demonstrate how the transtemporal posterior trajectory provides an optimal working corridor for safely removing this cavernous malformation without introducing new deficits.
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Hemangioma Cavernoso do Sistema Nervoso Central , Procedimentos Neurocirúrgicos , Tálamo , Humanos , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Tálamo/cirurgia , Tálamo/diagnóstico por imagem , Procedimentos Neurocirúrgicos/métodos , Adulto JovemRESUMO
Cerebral cavernous malformation (CCM) is a vascular disease that affects the central nervous system, which familial form is due to autosomal dominant mutations in the genes KRIT1(CCM1), MGC4607(CCM2), and PDCD10(CCM3). Patients affected by the PDCD10 mutations usually have the onset of symptoms at an early age and a more aggressive phenotype. The aim of this study is to investigate the molecular mechanism involved with CCM3 disease pathogenesis. Herein, we report two typical cases of CCM3 phenotype and compare the clinical and neuroradiological findings with five patients with a familial form of KRIT1 or CCM2 mutations and six patients with a sporadic form. In addition, we evaluated the PDCD10 gene expression by qPCR and developed a bioinformatic pipeline to understand the structural changes of mutations. The two CCM3 patients had an early onset of symptoms and a high lesion burden. Furthermore, the sequencing showed that Patient 1 had a frameshift mutation in c.222delT; p.(Asn75Thrfs*14) that leads to lacking the last 124 C-terminal amino acids on its primary structure and Patient 2 had a variant on the splicing site region c.475-2A > G. The mRNA expression was fourfold lower in both patients with PDCD10 mutation. Using in silico analysis, we identify that the frameshift mutation transcript lacks the C-terminal FAT-homology domain compared to the wild-type PDCD10 and preserves the N-terminal dimerization domain. The two patients studied here allow estimating the potential impact of mutations in clinical interpretation as well as support to better understand the mechanism and pathogenesis of CCM3.
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Hemangioma Cavernoso do Sistema Nervoso Central , Humanos , Sistema Nervoso Central , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Mutação/genética , Fenótipo , Proteínas Proto-Oncogênicas/genéticaRESUMO
Introduction: Developmental venous anomalies (DVAs) are considered variants of normal transmedullary veins. Their association with cavernous malformations is reported to increase the risk of hemorrhage. Expert consensus recommends meticulous planning with MR imaging, use of anatomical "safe zones", intraoperative monitoring of long tracts and cranial nerve nuclei, and preservation of the DVA as key to avoiding complications in brainstem cavernoma microsurgery. Symptomatic outflow restriction of DVA is rare, with the few reported cases in the literature restricted to DVAs in the supratentorial compartment. Case: We present a case report of the resection of a pontine cavernoma complicated by delayed outflow obstruction of the associated DVA. A female patient in her 20's presented with progressive left-sided hemisensory disturbance and mild hemiparesis. MRI revealed two pontine cavernomas associated with interconnected DVA and hematoma. The symptomatic cavernoma was resected via the infrafacial corridor. Despite the preservation of the DVA, the patient developed delayed deterioration secondary to venous hemorrhagic infarction. We discuss the imaging and surgical anatomy pertinent to brainstem cavernoma surgery, as well as the literature exploring the management of symptomatic infratentorial DVA occlusion. Conclusion: Delayed symptomatic pontine venous congestive edema is extremely rare following cavernoma surgery. DVA outflow restriction from a post-operative cavity, intraoperative manipulation, and intrinsic hypercoagulability from COVID-10 infection are potential pathophysiological factors. Improved knowledge of DVAs, brainstem venous anatomy, and "safe entry zones" will further elucidate the etiology of and the efficacious treatment for this complication.
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Developmental venous anomalies (DVAs) are composed of mature venous vessels that lack malformed or neoplastic elements. Although the hemorrhage risk is considered negligible, some patients may have neurological symptoms attributable to acute infarction or intracranial hemorrhage secondary to thrombosis, in the absence of a coexisting cavernous malformation. We report the case of a 42-year-old patient who presented with acute left-hand paresis secondary to a subcortical hemorrhage. This bleeding originated from a DVA in the corticospinal tract area and was surgically drained through an awake craniotomy. To accomplish this, we used a trans-precentral sulcus approach. After the complete removal of the coagulum, small venous channels appeared, which were coagulated. No associated cavernoma was found. Although the main DVA trunk was left patent, no signs of ischemia or venous infarction were observed after coagulating the small venous channels found inside the hematoma cavity. Two weeks after the procedure, the patient's hand function improved, and he was able to resume desktop work. DVA-associated hemorrhage within the cortico-spinal tract could be safely removed with modern awake mapping techniques. This technique allowed the patient to rapidly improve his hand function.
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BACKGROUND: Lesions in the ventral striatum region (above the anterior perforated substance) are a challenge for neurosurgeons due to their direct relationship with the lenticulostriate arteries, which difficult the surgical access. The standard approaches for this region include the following: 1) transfrontal approach, 2) transanterior perforating substance approach, 3) transcallosal transventricular approach, and 4) pterional transsylvian-transinsular route. In this study, we aimed to describe a novel anatomical approach through the anterior limiting sulcus of the insula in order to access the ventral striatum. METHODS: We reviewed the literature and performed a detailed dissection of this region by using Klingler's technique with brain specimens injected with silicone, paying special attention to the white fibers and lenticulostriate arteries, and provided a description of an illustrative case of a cavernous malformation. RESULTS: Neuroanatomical dissections showed that the lenticulostriate arteries had an inverted C-shaped anterior concavity, leaving less significant vascular relationships in the depth of the anterior limiting sulcus of the insula. In the case we described, the cavernous malformation was completely resected and the patient was discharged without any neurological deficits. CONCLUSIONS: The transanterior limiting sulcus of the insula approach to the ventral striatum offers a safe access route for selected cases and can be performed on the basis of anatomical references. Three-dimensional understanding of the intrinsic brain architecture and its relationships with vascular structures in this specific area is important and can be acquired mainly through laboratory training.
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Córtex Insular , Procedimentos Neurocirúrgicos , Humanos , Procedimentos Neurocirúrgicos/métodos , Tubérculo Olfatório , Dissecação , Artéria Cerebral MédiaRESUMO
Cavernous malformations (CM) affect approximately 0.5% of the population, with only a limited portion being located in the optic nerve and chiasma. The clinical presentation is determined by their locations. In the optochiasmatic CM, the acute visual disturbance is the most common presentation. Chronically, many show a progressive visual loss, chronic headache, and pituitary disturbances. The differential diagnosis includes optic glioma, arteriovenous malformations, aneurysm, craniopharyngioma, pituitary apoplexy, and inflammatory conditions. In Video 1, we present the case of a 39-year-old woman with a history of a hemorrhagic optochiasmatic cavernoma in 2016, who started using propranolol to reduce the lesion and symptoms of visual loss. Moreover, the first microsurgical resection of the cavernoma and evacuation of the hematoma were performed in the same year. Owing to evolvement from a partial to a total vision loss in the left eye and presentation of new symptoms in the right eye, the patient underwent microsurgical resection. The surgery was performed sequentially. An awake craniotomy was performed to monitor the chiasma and right optic nerve. The postoperative magnetic resonance imaging showed complete resection of the CM, and the patient fully recovered. The patient signed the institutional consent form, stating that he or she accepts the procedure and allows the use of his or her images and videos for any type of medical publications in conferences and/or scientific articles.
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Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Microcirurgia/métodos , Procedimentos Neurocirúrgicos/métodos , Quiasma Óptico/cirurgia , Neoplasias do Nervo Óptico/cirurgia , Adulto , Feminino , Humanos , VigíliaRESUMO
Cavernous malformations of the third ventricle are rare, deep-seated lesions that pose a formidable surgical challenge due to the rich, surrounding anatomy. Despite the potential morbidity of surgical treatment, the possibility of catastrophic, spontaneous hemorrhage in this location is even more feared and aggressive treatment is warranted, especially if the patient had suffered previous hemorrhages and is currently symptomatic. We demonstrate this approach (Video 1) on a 16-year-old boy who presented with right-sided hemiparesis (power grade 4), intense headaches, difficulties with learning and concentration, and memory loss, mainly affecting short-term memory. The patient had a previous unsuccessful excision at another center 3 months after initial hemorrhage. The absence of hydrocephalus and medial thalamic location favored a modified transcallosal transchoroidal (or subchoroidal) approach. Due to the anatomy of the lesion, no other microsurgical approaches were considered. The surgery at our center (second attempt) was performed 5 months after initial hemorrhage. The head was placed in neutral position, with a slight elevation of the vertex and the midline in a vertical position. A callosotomy had already been performed during the patient's first excision attempt at another center. Although dissection through the tela choroidea is commonly performed medially to the choroidal fissure when one wants to enter the third ventricle, we chose to carefully dissect through this structure laterally, because this thalamic lesion extended almost into the ependymal surface of the third ventricle. This way, the choroidal plexus became a protective cushion for the fornix. On entering the third ventricle, a mulberry-like lesion was readily identified and the cavernoma was located. The central contents of the cavernoma were dissected initially, causing relative deflation of the lesion and more maneuverability to dissect it away from the surrounding structures. Neuromonitoring was used to avoid brainstem injury. Postoperative magnetic resonance imaging showed complete resection with no signs of hemorrhage or ischemia. The patient was discharged on postoperative day 5 with no new neurologic deficits. The patient was also able to return to school after 1 month and showed complete recovery. Unfortunately, neuropsychologic evaluation was unavailable to understand his improvement better. Microsurgical dissection images in this video are a courtesy of the Rhoton Collection, American Association of Neurological Surgeons (AANS)/Neurosurgical Research and Education Foundation (NREF).
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Neoplasias do Ventrículo Cerebral/cirurgia , Plexo Corióideo/cirurgia , Corpo Caloso/cirurgia , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Terceiro Ventrículo/cirurgia , Adolescente , Neoplasias do Ventrículo Cerebral/diagnóstico por imagem , Plexo Corióideo/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Humanos , Masculino , Terceiro Ventrículo/diagnóstico por imagemRESUMO
Cerebral cavernous malformations, also known as cavernomas, are vascular abnormalities of the brain that are clinically associated with a variety of neurologic symptoms that may include hemorrhagic strokes. They are the most common vascular abnormality, representing 10%-25% of all vascular malformations.1 Lesions associated with cavernomas include developmental venous anomalies, capillary telangiectasias, and other vascular malformations2 but not intracranial aneurysms. The latter association is extremely rare; in fact, there is only 1 case reported in the literature, in which the cavernoma was obscured by the presence of a cerebral hemorrhage and an unruptured aneurysm, which was presumed to be the primary cause of the bleeding, thereby misleading the surgeons to treat only the aneurysm.2 There are different alternatives for the management of different types of lesions.3-5 In this 3-dimensional operative video (Video 1), we present a case of a cavernoma associated with hemorrhage coexisting with an unruptured aneurysm in which we achieved complete resolution of both with microsurgical treatment through a pterional approach.6 The patient consented to publication of images.
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Hemorragia Cerebral/cirurgia , Lobo Frontal/cirurgia , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Aneurisma Intracraniano/cirurgia , Microcirurgia/métodos , Idoso , Hemorragia Cerebral/diagnóstico por imagem , Feminino , Lobo Frontal/irrigação sanguínea , Lobo Frontal/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Humanos , Aneurisma Intracraniano/diagnóstico por imagem , Resultado do TratamentoRESUMO
Cavernous malformations are vascular malformations that can occur anywhere in the central nervous system (CNS). Giant cavernous malformations (GCM) are extremely rare in adults, especially in the posterior fossa. Herein, we described a 48-year-old male who presented with vertigo and postural instability for three months. Neuroimaging revealed a 131.15 cm3 heterogeneous midline upper cerebellar lesion. After a suboccipital craniotomy, a gross total resection (GTR) was accomplished. Histopathologic examination revealed a huge cavernous malformation. Only 27 GCM adult cases were reported in the English-based literature. Only two patients had cerebellar lesions and, to the best of our knowledge, this is the first case of cerebellar vermis GCM. We concluded that cerebellar GCM (CGCM) in adults are exceedingly rare and indolent lesions. These lesions can radiologically and clinically mimic neoplastic lesions that have to be considered in the differential diagnosis. GTR is the mainstay of treatment and, whenever possible, should be attempted.
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Doenças Assintomáticas , Neoplasias Encefálicas/sangue , Fator Estimulador de Colônias de Granulócitos e Macrófagos/sangue , Hemangioma Cavernoso do Sistema Nervoso Central/sangue , Interleucinas/sangue , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Neoplasias Encefálicas/diagnóstico por imagem , Estudos de Coortes , Feminino , Seguimentos , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
BACKGROUND: Cerebral Cavernous Malformations (CCM) predispose patients to a lifetime risk of seizures and symptomatic hemorrhage. Only a small percentage of people affected will develop clinical symptoms and the molecular mechanisms underlying lesional activity remain unclear. We analyzed a panel of Single Nucleotide Polymorphisms (SNPs) in CCM patients. We looked for plasmatic inflammatory cytokines, checking for a pattern of plasma expression heterogeneity and any correlation with genetic variations identified with different CCM clinical phenotypes. METHODS: This was a case-control study from a long-term follow-up cohort including 23 CCM patients, of which 16 were symptomatic, and 7 were asymptomatic. A 200-SNP panel was considered through next-generation sequencing and 18 different plasma molecules were assessed through a suspension array system. RESULTS: Fcγ receptor IIa rs1801274 (FCGR2A) and protein tyrosine phosphatase non-receptor type 2 rs72872125 PTPN2 were statistically different between groups. Patients who had a combination of the presence of FCGR2A and the absence of PTPN2 also had symptoms earlier in life. The combination of genetic polymorphisms and serum level of GM-CSF showed the best diagnostic biomarker to distinguish symptomatic patients as formulated: [0.296*(FCGR2A)] + [-0.788*(PTPN2)] + [-0.107*(GM-CSF)]. CONCLUSION: We have shown that SNPs in inflammation genes might be related to a symptomatic phenotype in CCM. We also demonstrated that a formula based on two of these polymorphisms (FCGR2A+ and PTPN2+) is possibly capable of predicting a symptomatic phenotype during a patient's lifetime.
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Fator Estimulador de Colônias de Granulócitos e Macrófagos/genética , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Proteína Tirosina Fosfatase não Receptora Tipo 2/genética , Receptores de IgG/genética , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Marcadores Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
BACKGROUND: Familial cerebral cavernous malformations (CCM) are among the most common vascular malformations of the central nervous system (CNS) and are linked to mutations on the specific genes CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. We present the first report in the literature of a pharmaco-resistant epileptic patient harboring co-occurring pathogenic mutations within CCM2/MGC4607 and CCM1/KRIT1. CASE DESCRIPTION: A 51-year-old patient first presented at age of 33 years with episodes of seizures. Magnetic resonance imaging including a susceptibility-weighted imaging sequence had shown multiple cerebral cavernous malformation lesions. She had partial response of symptoms and remained in routine follow-up needing progressive pharmacological improvement. Direct sequencing allowed the detection of 1 nonsense pathogenic mutation in CCM2/MGC4607 (c.118C>T; p.Arg40Ter) and 1 unclassified frameshift insertion variant in CCM1/KRIT1 (c.1687_1688insT; p.Tyr563LeufsTer5). CONCLUSIONS: Although the CCM2/MGC460 variant seems to be the major contributor for the patient's CCM phenotype, the mutated CCM1/KRIT1 seems to act as a booster to CCM overall pathogenicity.
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Proteínas de Transporte/genética , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Proteína KRIT1/genética , Epilepsia Resistente a Medicamentos/etiologia , Hemangioma Cavernoso do Sistema Nervoso Central/complicações , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-IdadeRESUMO
Objetivo: Presentar los resultados de tratamiento quirúrgico obtenidos en una serie de 14 casos de malformación cavernosa, situadas en diferentes localizaciones encefálicas, además de realizar una revisión bibliográfica sobre el tema. Material y métodos: En el periodo de los años 2014-2019, se diagnosticaron y protocolizaron 14 pacientes por medio de la consulta externa de neurocirugía del Hospital Juárez de México. Todos menos 2, fueron intervenidos quirúrgicamente. Resultados: En 12 de los 14 casos que recibieron tratamiento quirúrgico, se documentó mejoría neurológica posterior a la resección total en 10 pacientes, 1 paciente de cavernoma gigante temporal se hizo resección subtotal, en 1 paciente con lesión de localización protuberancial se le realizó únicamente drenaje de hematoma. El déficit preoperatorio tendió a mejorar progresivamente en las lesiones de mayor tamaño y en ningún caso se documentaron complicaciones, las crisis convulsivas se controlaron disminuyendo progresivamente la dosis de fármacos anticonvulsivantes en el periodo postquirúrgico de este grupo de pacientes. Y dos pacientes, uno con lesión mesencefálica y el otro con cavernomatosis solo se sometieron a observación. Conclusiones: La cirugía es el método de elección hoy en día para el tratamiento de las malformaciones cavernosas, siendo los mejores resultados a menor tamaño de la lesión y con localizaciones más superficiales. Los resultados quirúrgicos de nuestros pacientes son similares a lo reportado en la literatura mundial.
Objectives: To present the surgical outcomes obtained in a series of 14 cases of cavernous malformation, located in different brain locations, in addition to conducting a literature review on the subject. Method: Between the years, 2014 and 2019, 14 cases were diagnosed and protocolized in neurosurgery department of Hospital Juárez of México. All patients except two, were surgically treated. Results: In 12 of the 14 cases received surgical treatment, neurological improvement was documented after the total resection in ten patients, one patient with giant temporal cavernoma performed a subtotal resection, other case with a lesion in the pontine location a hematoma drainage was performed. All surgical patients the preoperative clinical deficit tended to improve progressively in larger lesions and no complications were documented. Seizures were controlled by gradually decreasing the dose of anticonvulsant drugs in the post-surgical period of this group of patients. And two patients, one with mesencephalic lesion and another with cavernomatosis, were only observe. Conclusion: Surgery is the method of choice today for the treatment of cavernous malformations, with the best outcome being the smallest size of the lesion and with more superficial locations. The surgical outcomes in our patients are similar to those reported in the world literature
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Humanos , Hemangioma Cavernoso , Anormalidades Congênitas , Sistema Nervoso Central , NeurocirurgiaRESUMO
BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular capillary anomalies with a dysfunctional endothelial adherent junction profile, depicting hemorrhage and epilepsy as the main clinical features. With the advent of an increasingly personalized medicine, better comprehension of genetic mechanisms behind CCM represents an important key in the management of the patients and risk rating in relatives. In this context, genetic factors that might influence clinical expressiveness of CCM need to be identified. CASE DESCRIPTION: A 33-year-old woman harboring multiple CCM lesions with a CCM1 mutational profile already being treated conservatively for a right mesial temporal lobe CCM presented with refractory seizures. Magnetic resonance imaging showed no bleeding in the lesion, and the patient was submitted to complete resection of the CCM. Histopathology of the CCM samples depicted an extensive inflammatory reaction and colocalization of CD20+ and CD68+ cells. Genetic analyses of the patient and her mother demonstrated a novel CCM1 (KRIT1) frameshift mutation (c.1661_1662insT; p.Leu554PhefsTer14). Furthermore, variants in CD14 (rs778588), TLR-4 (rs10759930), SOD2 (rs4880), APEX1 (rs1130409), and OGG1 (rs1052133), known as polymorphisms related to disease aggressiveness, were detected in the patient and not in her oligosymptomatic mother harboring the same CCM1 mutation. CONCLUSIONS: Heterogeneity of clinical manifestations among individuals with familial CCM with the same genotype adds mechanistic involvement of modifier factors as phenotypic markers. We describe a novel CCM1/KRIT1 familial mutation in which the coexistence of genetic variants in inflammation and oxidative stress may be related to variable expressiveness of the disease.
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Mutação da Fase de Leitura , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Proteína KRIT1/genética , Adulto , Anticonvulsivantes/uso terapêutico , Brasil , DNA Glicosilases/genética , DNA Liase (Sítios Apurínicos ou Apirimidínicos)/genética , Feminino , Genótipo , Hemangioma Cavernoso do Sistema Nervoso Central/complicações , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Humanos , Inflamação/genética , Receptores de Lipopolissacarídeos/genética , Imageamento por Ressonância Magnética , Mães , Estresse Oxidativo/genética , Fenótipo , Convulsões/tratamento farmacológico , Convulsões/etiologia , Índice de Gravidade de Doença , Superóxido Dismutase/genética , Receptor 4 Toll-Like/genéticaRESUMO
PURPOSE: To describe a case report of Cavernous Hemangioma of the Retina (CHR) and highlight the importance of investigating intracranial system when retinal vascular alterations are present. OBSERVATIONS: Patient of 26 years old, with right eye fundus alteration since 7 years old, no visual complaint. In the exam, there were sacular lesions with hematic content in the macula, configurating liquid level, associated with whitish lesion suggestive of fibrosis, compatible with cavernous hemangioma; best visual accuity of 20/20 both eyes. Comparing the current retinography with the previous one, there was no significant lesion progression of the exam. By neuroimaging investigation, the Magnetic Ressonance Imaging showed multiple cavernomas. As his sister had been diagnosed with cerebral cavernous malformation 3 years before, due to termic hiposensitivity on left leg investigation, familial multiple cavernous malformation syndrome was defined. CONCLUSION: Imaging investigation of the Central Nervous System should be considered when CHR is observed. Clinical monitoring is necessary, interventional treatment is selected only for particular cases.
RESUMO
Brainstem cavernous malformations are challenging lesions considering the numerous eloquent structures frequently related. Surgical resection is the preferred treatment if the patient is symptomatic and the lesion can be safely resected. We present the case of a right-handed 38-yr-old female, presenting with progressive impairment of her handwriting. Physical examination showed a right-sided grade 4/5 hemiparesis. Preoperative imaging was suggestive of a left cerebral peduncle cavernous malformation with a recent area of hemorrhage. The most superficial portion of the lesion was on the surface of the brainstem in the supratrigeminal safe entry zone of the pons. A frontotemporal craniotomy was performed, followed by a pretemporal transtentorial approach. Prior to performing brainstem incision, the area was stimulated, and no motor evoked potential was recorded. The hematoma was then evacuated, and the cavernous malformation was dissected and removed. The capsule was also dissected and removed, using neurophysiological monitoring to guide this procedure. The lesion was completely resected, and the patient was discharged on postoperative day 7 with a right-sided hemiparesis grade 3/5, which improved to grade 5/5 after 4 mo. The patient presented an improvement of her symptoms, with no new neurological deficits. Brainstem cavernomas can be safely removed in selected cases, using the adequate safe entry zone and the appropriate surgical approach. The pretemporal route can be used to reach the anterolateral aspect of the upper part of the brainstem, as it combines the advantages of both transsylvian and subtemporal approaches. An informed consent was obtained from the patient for publication of this operative video.