Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a c...Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a clear definition in the literature, with a wide variety of results. It is known, however, that there is an association between the size of the cavernoma and postoperative sequelae, especially in those with a size greater than 3 cm in its largest diameter. We present a case report of resection of a giant brain cavernoma measuring approximately 8 cm in its largest diameter, emphasizing on clinical presentation, diagnoses and postoperative evolution. Additionally, we performed a comprehensive review of the existing literature on the subject, addressing the epidemiology, pathophysiology, diagnostic methods, treatment options, and prognosis associated with this condition.展开更多
BACKGROUND: A cerebral cavernous malformation-1 (CCM1) gene mutation might result in functional loss of KREV interaction trapped-1 (KRIT1), which is related to onset of cavernous malformations (CM). However, da...BACKGROUND: A cerebral cavernous malformation-1 (CCM1) gene mutation might result in functional loss of KREV interaction trapped-1 (KRIT1), which is related to onset of cavernous malformations (CM). However, data addressing sporadic CM in Chinese patients remains limited to date. OBJECTIVE: To analyze CCM1 mutation of Chinese patients with sporadic intracranial CM. DESIGN, TIME AND SETTING: Genetics experiment was performed in the Department of Neurosurgery, Huashan Hospital Affiliated to Fudan University between January 2004 and December 2005. PARTICIPANTS: Ninety patients with sporadic CM served as the CM group, and 30 healthy subjects were considered to be the control group. METHODS: Peripheral blood was collected from patients with CM and from control group subjects Genomic DNA was extracted, and exons 8, 9, 11, 12, 13, 15, 16, 17, and 18, as well as the related introns, were amplified using polymerase chain reaction. DNA sequences were compared with GeneBank. MAIN OUTCOME MEASURES: Abnormal mutable site of CCM1 gene in the two groups. RESULTS: Four exclusive mutations of CCM1 were detected in the CM group, with a sporadic CM mutational rate of 32% (6/19). Of the four exclusive mutations, there was one missense mutation [exon 12, 1172C→T (S391 F)], one insertion mutation [exon 8, 704insT (K246stop)], one intervening sequence mutation (IVS12-4C→T), and one synonymous mutation (exon 17, 1875C→T). With the exception of 1875C→T, all mutations detected in the CM group led to functional changes of the KRIT1 protein, which was encoded by the CCM1 gene. Gene mutations were not detected in the control group. CONCLUSION: Four exclusive mutations of the CCM1 gene were determined in Chinese patients with sporadic CM, which led to functional changes or loss of the encoding KRIT1 protein. KRIT1 protein is considered to be the genetic basis of CM occurrence.展开更多
BACKGROUND Giant cavernous malformation(GCM)is rarely found in intraventricular or paraventricular locations.CASE SUMMARY We present two cases of 6-mo and 21-mo boys with intraventricular and paraventricular GCMs incl...BACKGROUND Giant cavernous malformation(GCM)is rarely found in intraventricular or paraventricular locations.CASE SUMMARY We present two cases of 6-mo and 21-mo boys with intraventricular and paraventricular GCMs including a literature review focused on location and imaging findings.Characteristic magnetic resonance imaging findings such as multicystic lesions and a hemosiderin ring or bubbles-of-blood appearance can assist in the differential diagnosis of a hemorrhagic intraventricular and/or paraventricular mass.CONCLUSION Multifocal intraventricular and/or paraventricular GCM in small children is rare.The characteristic magnetic resonance imaging findings can help to differentiate GCMs from other intraventricular tumors.展开更多
Cerebral cavemous malformation (CCM) is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16...Cerebral cavemous malformation (CCM) is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance. The main clinical manifestations included headache, focal neural dysfunction, and cerebral hemorrhage. The lesions were a mixture of hyperintensity and hypointensity signals on TlWl and T2Wl, with a black hypointensity ring on T2Wl. CCM cranial magnetic resonance imaging T2Wl revealed an iron ring as a result of hemosiderin deposition. Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue. Intralesional hyalinosis, calcification, or bleeding of different phases and perilesional glial hyperplasia were observed, as well as hemosiderin deposition within or around the lesions. These features of this family were consistent with specific genetic, imaging and pathological features of familial CCM. Pathological characteristics reveal repeated hemorrhage, as well as intralesional and perilesional hemosiderin deposition.展开更多
Background Cavernous malformations of the spinal cord are a rare type of vascular malformation,comprising approximately 5 to 16%of all vascular lesions in the spinal cord.Depending on their origin position,these malfo...Background Cavernous malformations of the spinal cord are a rare type of vascular malformation,comprising approximately 5 to 16%of all vascular lesions in the spinal cord.Depending on their origin position,these malformations can be distributed in different locations within the spinal canal.Although intramedullary cavernous malformations have been reported in the literature,they are exceedingly rare.Furthermore,highly calcified or ossified intramedullary cavernous spinal malformations are even rarer.Case presentation Here,we present a case report of a 28-year-old woman diagnosed with a thoracic intramedullary cavernous malformation.The patient had been experiencing progressive numbness in her distal limbs for a period of 2 months.During routine lung computed tomography screening for COVID-19,a hyperdense mass was noted in the patient’s spinal canal.Magnetic resonance imaging revealed a mulberry-shaped intramedullary mass at the T1-2 level.The patient underwent surgical treatment,during which the entire lesion was successfully removed,resulting in a gradual improvement of her symptoms.Histological examination confirmed the presence of cavernous malformations with calcification.Conclusions Intramedullary cavernous malformations with calcification are rare and special type that should be treated surgically in the early stage without significant neurological impairment before rebleeding or enlargement of the lesion can occur.展开更多
Background Familial cerebral cavernous malformations (CCMs), characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an...Background Familial cerebral cavernous malformations (CCMs), characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified. We report a Chinese family with CCMs and intend to explore clinical, pathological, magnetic resonance imaging (MRI) features and pathogenic gene mutation of this family. Methods Totally 25 family members underwent brain MRI examination and clinical check. Two patients with surgical indications had surgical treatment and the specimens were subjected to histopathological and microstructural examination. In addition, polymerase chain reaction (PCR) and direct sequencing were performed with genomic DNA extracted from 25 family members' blood samples for mutation detection. Results Brain MRI identified abnormal results in seven family members. All of them had multiple intracranial lesions and four cases had skin cavernous hemangioma. T2-weighted sequence showed that the lesions were typically characterized by an area of mixed signal intensity. Gradient-echo (GRE) sequence was more sensitive to find micro- cavernous hemangiomas. There was a wide range in the clinical manifestations as well as the age of onset in the family. The youngest patient was an 8-year-old boy with least intracranial lesions. Histopathological and microstructural examination showed that CCMs were typically discrete multi-sublobes of berry-like lesions, with hemorrhage in various stages of illness evolution. They were formed by abnormally enlarged sinusoids and the thin basement membranes. A novel T deletion mutation in exon 14 of CCM1 gene was identified by mutation detection in the seven patients. But unaffected members and healthy controls did not carry this mutation. Conclusions The clinical manifestations were heterogenic within this family. We identified a novel mutation (c.1396delT) was the disease-causing mutation for this family and extended the mutational spectrum of CCMs.展开更多
Objective To evaluate retrospectively the effectiveness of image-guided navigation techniques in the management of cerebral CMs.Methods Between July 1997 and January 2001,44 patients underwent image-guided resection o...Objective To evaluate retrospectively the effectiveness of image-guided navigation techniques in the management of cerebral CMs.Methods Between July 1997 and January 2001,44 patients underwent image-guided resection of cerebral CMs. To counteract brain shift,a small silicon catheter was implanted as a guide in the case of deep-seated lesions (except in the case of brain stem CMs) and before excision of multiple lesions. Results A total of 27 men and 17 women with a mean age of 35 years underwent surgical procedures (5 patients had multiple lesions). The lesions were located in the frontal (n=14),lobe temporal lobe (n=12),parietal lobe (n=6),cerebellum (n=6),thalamus (n=5),pons (n=5),and orbital region (n=1). Under the guidance of a StealthStation navigator,total removal of the lesions was achieved in all patients. Follow-up revealed marked improvement of preoperative symptoms in 26 patients and no additional deficits in 13 patients. Five patients suffered from additional neurological deficits,but two of them gradually improved during the follow-up period. Conclusions With the assistance of an image-guided surgical system,functional areas can be effectively avoided and surgical injury can be decreased. This system is well suited for accurate localization and safe resection of small,deep-seated CMs.展开更多
Glioma is the most malignant tumor in the brain, the origin of glioma is still unknown. Recently some papers indicated that glioma may be developed from cerebral cavernous malformation (CCM). We describe a man with ...Glioma is the most malignant tumor in the brain, the origin of glioma is still unknown. Recently some papers indicated that glioma may be developed from cerebral cavernous malformation (CCM). We describe a man with a right temporal lobe CCM, after gamma-knife radiotherapy, the patient developed a low-grade astrocytoma in the area of the preexistent CCM. This case, together with other reports, may indicated an oncogenetic properties of CCM, and we proposed that CCM may be a pre-glioma lesion.展开更多
Objective: Brainstem cavernous malformation(BSCM) is extremely challenging for neurosurgeons in terms of surgical approach choices. In this article, we summarized our experience in skull base approaches of BSCM, and e...Objective: Brainstem cavernous malformation(BSCM) is extremely challenging for neurosurgeons in terms of surgical approach choices. In this article, we summarized our experience in skull base approaches of BSCM, and elucidated the advance of surgical treatments of brain stem cavernous malformation through reviewing recent relevant articles. Methods: We retrospectively reviewed 20 consecutive patients who underwent resection between May 1, 2014 and April 30, 2016. Only midline suboccipital, subtemporal approach and retrosigmoid approach were used in this series. The diagnoses of all patients were confirmed by radiological and histological examination. Results: All 20 patients were completely extirpated without surgical-related mortality.The mean follow-up period was 9.5 months(range, 2-20 months). Of the 20 patients, 80%symptomatic patients underwent surgery after first bleeding episode within 3 months,20% after two or more bleeding episodes by magnetic resonance imaging. After resection and during follow-up, 75% of patients had an improvement in their modified Rankin scale(m RS) scores, whereas 10% were worse compared with their preoperative presentation; 15% were unchanged. Conclusion: Appropriate basic surgical approach and minimally invasive techniques are necessary in preventing impairment of neurologic function. The three common basic skull base approaches, combined with minimally invasive techniques can handle most of BSCMs with good surgical results.展开更多
Objective: Cavernous malformation(CM) originating from the hypothalamus is extremely rare and the deep location presents a challenge for its neurosurgical management. We report such a case to better understand its cli...Objective: Cavernous malformation(CM) originating from the hypothalamus is extremely rare and the deep location presents a challenge for its neurosurgical management. We report such a case to better understand its clinical features. Methods and Results: A 40-year-old male patient presented with impaired vision in the left eye. Magnetic resonance imaging(MRI) revealed a regularly shaped round lesion located in the suprasellar cistern, and a clinical diagnosis of hypothalamic CM was made. Complete microsurgical excision was performed via a right pterional craniotomy. The patient showed good recovery with no further visual acuity or field deficits postoperatively. No CM recurrence or rebleeding was seen on follow-up MRI scans performed over the course of two years. Conclusions: For patients with cavernous malformation in the hypothalamus, accurate preoperative diagnosis with complete surgical removal by an appropriate surgical approach can contribute to satisfactory outcomes.展开更多
Glioblastomas are highly malignant and invasive brain tumors. Cerebral cavernous malformations(CCMs) are vascular diseases of congenital and occult vascular dysplasia, which may arise sporadically or may be inherited ...Glioblastomas are highly malignant and invasive brain tumors. Cerebral cavernous malformations(CCMs) are vascular diseases of congenital and occult vascular dysplasia, which may arise sporadically or may be inherited due to autosomal dominant condition. To the best of our knowledge, cases of glioblastoma in the cerebral hemisphere mimicking cavernous malformation have not been reported in the literature. We reported a case of glioblastoma mimicking CCM. The patient was admitted at our hospital in July 2015 due to a 9-day history of intermittent dizziness. The present study reports a case of a glioblastoma on the right temporal lobe mimicking CCM, which was confirmed by postoperative pathology. The diagnosis of glioblastoma was not determined even during surgery, and the lesion was totally resected with no complications. During the surgical procedure, the lesion was very similar to a CCM. In conclusion, it is difficult to distinguish between glioblastoma and CCM. Therefore, when a lesion is present with hemorrhage and the imaging features are very similar to a vascular disease, a tumor must be considered in the differential diagnosis.展开更多
INTRODUCTIOIN Cerebral cavernous malformation (CCM), also known as cavernous angioma, is a type of vascular malformation in the central nervous system. To date, rare cases of CCM and seizure have been reported in pr...INTRODUCTIOIN Cerebral cavernous malformation (CCM), also known as cavernous angioma, is a type of vascular malformation in the central nervous system. To date, rare cases of CCM and seizure have been reported in pregnancies, Nowadays,展开更多
OBJECTIVE Our previous studies demonstrated that various ingredients from the traditional Chinese medicine(TCM)for promoting blood circulation and removing blood stasis,as exemplified by cryptotanshinone and salvianol...OBJECTIVE Our previous studies demonstrated that various ingredients from the traditional Chinese medicine(TCM)for promoting blood circulation and removing blood stasis,as exemplified by cryptotanshinone and salvianolic acid B,exerted striking effects on modulating angiogenesis and vascular permeability,which suggests that they may be effective in treating vascular leak-driven diseases(e.g.tumor,cerebral cavernous malformation and diabetic retinopathy).However,the lack of reliable and advanced technologies and models sets up difficult hurdles for better understanding the role of TCM for promoting blood circulation and removing blood stasis.To this end,this study is to outline numerous cutting-edge platforms that can be utilized for exploring the function of TCM for promoting blood circulation and removing blood stasis in vascular leak-driven diseases.METHODS Two-photon laser scanning fluorescence microscopy was used to observe the interactions between neutrophils and blood vessels in a real-time manner.Dynamic flow system was employed to mimic the in vivo behaviors of neutrophils.RIP1-Tag5 spontaneous pancreatic cancer model was used to study the function of tumor blood vessels.CCM2ECKO(deletion of CCM2 in endothelial cells)mice were employed to establish the cerebral cavernous malformation(CCM)animal model.Micro-computed tomography(micro-CT)was utilized to assess the CCM lesion.Müller cell-knockout mouse model was used to study the progression of diabetic retinopathy.Vascular permeability in this model was assessed by fluorescein angiography.RESULTS The interactions between neutrophils and endothelial cells involve a series of complicated processes,including rolling,adhesion,intraluminal crawling and transmigration,which were all monitored in vivo by two-photon laser scanning fluorescence microscopy in a real-time manner.Dynamic flow system was capable of recapitulating the biological behaviors of neutrophils in vitro.Tumor vascular function in particular vascular perfusion could be assessed in the RIP1-Tag5 spontaneous pancreatic cancer model.In terms of CCM studies,specific deletion of CCM2 in endothelial cells resulted in the initiation of CCM lesion.The size and number of CCM lesions could be visualized and quantified by micro-CT.Furthermore,the Müller cell-knockout mouse model was able to precisely reflect the clinical symptoms of diabetic retinopathy.Vascular leak could be monitored at different time points using fluorescein angiography.CONCLUSION An array of high technologies and animal models can be used in investigating the occurrence and progression of multiple vascular leak-driven diseases.The pre-clinical and clinical studies of TCM for promoting blood circulation and removing blood stasis provide fundamental support for the application of the above-mentioned platforms,with the purpose of uncovering the scientific basis of TCM for promoting blood circulation and removing blood stasis.展开更多
Background:Cerebral cavernous malformations(CCMs),a major neurosurgical condition,characterized by abnormally dilated intracranial capillaries,result in increased susceptibility to stroke.KRIT1(CCM1),MGC4607(CCM2),and...Background:Cerebral cavernous malformations(CCMs),a major neurosurgical condition,characterized by abnormally dilated intracranial capillaries,result in increased susceptibility to stroke.KRIT1(CCM1),MGC4607(CCM2),and PDCD10(CCM3)have been identified as causes of CCMs in which at least one of them is disrupted in most familial cases.Our goal is to identify potential biomarkers and genetic modifiers of CCMs,using a global comparative omics approach across several in vitro studies and multiple in vivo animal models.We hypothesize that through analysis of the CSC utilizing various omics,we can identify potential biomarkers and genetic modifiers,by systemically evaluating effectors and binding partners of the CSC as well as second layer interactors.Methods:We utilize a comparative omics approach analyzing multiple CCMs deficient animal models across nine independent studies at the genomic,transcriptomic,and proteomic levels to dissect alterations in various signaling cascades.Results:Our analysis revealed a large set of genes that were validated across multiple independent studies,suggesting an important role for these identified genes in CCM pathogenesis.Conclusion:This is currently one of the largest comparative omics analysis of CCM deficiencies across multiple models,allowing us to investigate global alterations among multiple signaling cascades involved in both angiogenic and non-angiogenic events and to also identify potential biomarker candidates of CCMs,which can be used for new therapeutic strategies.展开更多
文摘Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a clear definition in the literature, with a wide variety of results. It is known, however, that there is an association between the size of the cavernoma and postoperative sequelae, especially in those with a size greater than 3 cm in its largest diameter. We present a case report of resection of a giant brain cavernoma measuring approximately 8 cm in its largest diameter, emphasizing on clinical presentation, diagnoses and postoperative evolution. Additionally, we performed a comprehensive review of the existing literature on the subject, addressing the epidemiology, pathophysiology, diagnostic methods, treatment options, and prognosis associated with this condition.
文摘BACKGROUND: A cerebral cavernous malformation-1 (CCM1) gene mutation might result in functional loss of KREV interaction trapped-1 (KRIT1), which is related to onset of cavernous malformations (CM). However, data addressing sporadic CM in Chinese patients remains limited to date. OBJECTIVE: To analyze CCM1 mutation of Chinese patients with sporadic intracranial CM. DESIGN, TIME AND SETTING: Genetics experiment was performed in the Department of Neurosurgery, Huashan Hospital Affiliated to Fudan University between January 2004 and December 2005. PARTICIPANTS: Ninety patients with sporadic CM served as the CM group, and 30 healthy subjects were considered to be the control group. METHODS: Peripheral blood was collected from patients with CM and from control group subjects Genomic DNA was extracted, and exons 8, 9, 11, 12, 13, 15, 16, 17, and 18, as well as the related introns, were amplified using polymerase chain reaction. DNA sequences were compared with GeneBank. MAIN OUTCOME MEASURES: Abnormal mutable site of CCM1 gene in the two groups. RESULTS: Four exclusive mutations of CCM1 were detected in the CM group, with a sporadic CM mutational rate of 32% (6/19). Of the four exclusive mutations, there was one missense mutation [exon 12, 1172C→T (S391 F)], one insertion mutation [exon 8, 704insT (K246stop)], one intervening sequence mutation (IVS12-4C→T), and one synonymous mutation (exon 17, 1875C→T). With the exception of 1875C→T, all mutations detected in the CM group led to functional changes of the KRIT1 protein, which was encoded by the CCM1 gene. Gene mutations were not detected in the control group. CONCLUSION: Four exclusive mutations of the CCM1 gene were determined in Chinese patients with sporadic CM, which led to functional changes or loss of the encoding KRIT1 protein. KRIT1 protein is considered to be the genetic basis of CM occurrence.
文摘BACKGROUND Giant cavernous malformation(GCM)is rarely found in intraventricular or paraventricular locations.CASE SUMMARY We present two cases of 6-mo and 21-mo boys with intraventricular and paraventricular GCMs including a literature review focused on location and imaging findings.Characteristic magnetic resonance imaging findings such as multicystic lesions and a hemosiderin ring or bubbles-of-blood appearance can assist in the differential diagnosis of a hemorrhagic intraventricular and/or paraventricular mass.CONCLUSION Multifocal intraventricular and/or paraventricular GCM in small children is rare.The characteristic magnetic resonance imaging findings can help to differentiate GCMs from other intraventricular tumors.
基金the Medical Health Science and Tech-nology General Program of Guangzhou,No. 2009-YB-042
文摘Cerebral cavemous malformation (CCM) is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance. The main clinical manifestations included headache, focal neural dysfunction, and cerebral hemorrhage. The lesions were a mixture of hyperintensity and hypointensity signals on TlWl and T2Wl, with a black hypointensity ring on T2Wl. CCM cranial magnetic resonance imaging T2Wl revealed an iron ring as a result of hemosiderin deposition. Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue. Intralesional hyalinosis, calcification, or bleeding of different phases and perilesional glial hyperplasia were observed, as well as hemosiderin deposition within or around the lesions. These features of this family were consistent with specific genetic, imaging and pathological features of familial CCM. Pathological characteristics reveal repeated hemorrhage, as well as intralesional and perilesional hemosiderin deposition.
基金National Natural Science Foundation of China(81891004)Beijing Hospitals Authority Clinical medicine Development of special funding support.(XMLX202109)
文摘Background Cavernous malformations of the spinal cord are a rare type of vascular malformation,comprising approximately 5 to 16%of all vascular lesions in the spinal cord.Depending on their origin position,these malformations can be distributed in different locations within the spinal canal.Although intramedullary cavernous malformations have been reported in the literature,they are exceedingly rare.Furthermore,highly calcified or ossified intramedullary cavernous spinal malformations are even rarer.Case presentation Here,we present a case report of a 28-year-old woman diagnosed with a thoracic intramedullary cavernous malformation.The patient had been experiencing progressive numbness in her distal limbs for a period of 2 months.During routine lung computed tomography screening for COVID-19,a hyperdense mass was noted in the patient’s spinal canal.Magnetic resonance imaging revealed a mulberry-shaped intramedullary mass at the T1-2 level.The patient underwent surgical treatment,during which the entire lesion was successfully removed,resulting in a gradual improvement of her symptoms.Histological examination confirmed the presence of cavernous malformations with calcification.Conclusions Intramedullary cavernous malformations with calcification are rare and special type that should be treated surgically in the early stage without significant neurological impairment before rebleeding or enlargement of the lesion can occur.
基金This study was supported by grants from the National Natural Science Foundation of China (No. 81171071) and the Natural Science Foundation of Shandong Province (No. ZR2010HM052).
文摘Background Familial cerebral cavernous malformations (CCMs), characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified. We report a Chinese family with CCMs and intend to explore clinical, pathological, magnetic resonance imaging (MRI) features and pathogenic gene mutation of this family. Methods Totally 25 family members underwent brain MRI examination and clinical check. Two patients with surgical indications had surgical treatment and the specimens were subjected to histopathological and microstructural examination. In addition, polymerase chain reaction (PCR) and direct sequencing were performed with genomic DNA extracted from 25 family members' blood samples for mutation detection. Results Brain MRI identified abnormal results in seven family members. All of them had multiple intracranial lesions and four cases had skin cavernous hemangioma. T2-weighted sequence showed that the lesions were typically characterized by an area of mixed signal intensity. Gradient-echo (GRE) sequence was more sensitive to find micro- cavernous hemangiomas. There was a wide range in the clinical manifestations as well as the age of onset in the family. The youngest patient was an 8-year-old boy with least intracranial lesions. Histopathological and microstructural examination showed that CCMs were typically discrete multi-sublobes of berry-like lesions, with hemorrhage in various stages of illness evolution. They were formed by abnormally enlarged sinusoids and the thin basement membranes. A novel T deletion mutation in exon 14 of CCM1 gene was identified by mutation detection in the seven patients. But unaffected members and healthy controls did not carry this mutation. Conclusions The clinical manifestations were heterogenic within this family. We identified a novel mutation (c.1396delT) was the disease-causing mutation for this family and extended the mutational spectrum of CCMs.
文摘Objective To evaluate retrospectively the effectiveness of image-guided navigation techniques in the management of cerebral CMs.Methods Between July 1997 and January 2001,44 patients underwent image-guided resection of cerebral CMs. To counteract brain shift,a small silicon catheter was implanted as a guide in the case of deep-seated lesions (except in the case of brain stem CMs) and before excision of multiple lesions. Results A total of 27 men and 17 women with a mean age of 35 years underwent surgical procedures (5 patients had multiple lesions). The lesions were located in the frontal (n=14),lobe temporal lobe (n=12),parietal lobe (n=6),cerebellum (n=6),thalamus (n=5),pons (n=5),and orbital region (n=1). Under the guidance of a StealthStation navigator,total removal of the lesions was achieved in all patients. Follow-up revealed marked improvement of preoperative symptoms in 26 patients and no additional deficits in 13 patients. Five patients suffered from additional neurological deficits,but two of them gradually improved during the follow-up period. Conclusions With the assistance of an image-guided surgical system,functional areas can be effectively avoided and surgical injury can be decreased. This system is well suited for accurate localization and safe resection of small,deep-seated CMs.
基金This work was supported by grants from National Natural Science Foundation of China (No. 81172409), and National "863" Key Project (No. 2012AA02A508).
文摘Glioma is the most malignant tumor in the brain, the origin of glioma is still unknown. Recently some papers indicated that glioma may be developed from cerebral cavernous malformation (CCM). We describe a man with a right temporal lobe CCM, after gamma-knife radiotherapy, the patient developed a low-grade astrocytoma in the area of the preexistent CCM. This case, together with other reports, may indicated an oncogenetic properties of CCM, and we proposed that CCM may be a pre-glioma lesion.
文摘Objective: Brainstem cavernous malformation(BSCM) is extremely challenging for neurosurgeons in terms of surgical approach choices. In this article, we summarized our experience in skull base approaches of BSCM, and elucidated the advance of surgical treatments of brain stem cavernous malformation through reviewing recent relevant articles. Methods: We retrospectively reviewed 20 consecutive patients who underwent resection between May 1, 2014 and April 30, 2016. Only midline suboccipital, subtemporal approach and retrosigmoid approach were used in this series. The diagnoses of all patients were confirmed by radiological and histological examination. Results: All 20 patients were completely extirpated without surgical-related mortality.The mean follow-up period was 9.5 months(range, 2-20 months). Of the 20 patients, 80%symptomatic patients underwent surgery after first bleeding episode within 3 months,20% after two or more bleeding episodes by magnetic resonance imaging. After resection and during follow-up, 75% of patients had an improvement in their modified Rankin scale(m RS) scores, whereas 10% were worse compared with their preoperative presentation; 15% were unchanged. Conclusion: Appropriate basic surgical approach and minimally invasive techniques are necessary in preventing impairment of neurologic function. The three common basic skull base approaches, combined with minimally invasive techniques can handle most of BSCMs with good surgical results.
基金the the National Science and Technology Support Program of the 12th Five-Year of China(grant number:2012BAI12B03)to P.Lthe Natural Science Foundation of Beijing(grant number:7112049)to P.L
文摘Objective: Cavernous malformation(CM) originating from the hypothalamus is extremely rare and the deep location presents a challenge for its neurosurgical management. We report such a case to better understand its clinical features. Methods and Results: A 40-year-old male patient presented with impaired vision in the left eye. Magnetic resonance imaging(MRI) revealed a regularly shaped round lesion located in the suprasellar cistern, and a clinical diagnosis of hypothalamic CM was made. Complete microsurgical excision was performed via a right pterional craniotomy. The patient showed good recovery with no further visual acuity or field deficits postoperatively. No CM recurrence or rebleeding was seen on follow-up MRI scans performed over the course of two years. Conclusions: For patients with cavernous malformation in the hypothalamus, accurate preoperative diagnosis with complete surgical removal by an appropriate surgical approach can contribute to satisfactory outcomes.
基金Supported by Tsinghua-Yuquan Medical Research Funds(No.20240000513)
文摘Glioblastomas are highly malignant and invasive brain tumors. Cerebral cavernous malformations(CCMs) are vascular diseases of congenital and occult vascular dysplasia, which may arise sporadically or may be inherited due to autosomal dominant condition. To the best of our knowledge, cases of glioblastoma in the cerebral hemisphere mimicking cavernous malformation have not been reported in the literature. We reported a case of glioblastoma mimicking CCM. The patient was admitted at our hospital in July 2015 due to a 9-day history of intermittent dizziness. The present study reports a case of a glioblastoma on the right temporal lobe mimicking CCM, which was confirmed by postoperative pathology. The diagnosis of glioblastoma was not determined even during surgery, and the lesion was totally resected with no complications. During the surgical procedure, the lesion was very similar to a CCM. In conclusion, it is difficult to distinguish between glioblastoma and CCM. Therefore, when a lesion is present with hemorrhage and the imaging features are very similar to a vascular disease, a tumor must be considered in the differential diagnosis.
文摘INTRODUCTIOIN Cerebral cavernous malformation (CCM), also known as cavernous angioma, is a type of vascular malformation in the central nervous system. To date, rare cases of CCM and seizure have been reported in pregnancies, Nowadays,
文摘OBJECTIVE Our previous studies demonstrated that various ingredients from the traditional Chinese medicine(TCM)for promoting blood circulation and removing blood stasis,as exemplified by cryptotanshinone and salvianolic acid B,exerted striking effects on modulating angiogenesis and vascular permeability,which suggests that they may be effective in treating vascular leak-driven diseases(e.g.tumor,cerebral cavernous malformation and diabetic retinopathy).However,the lack of reliable and advanced technologies and models sets up difficult hurdles for better understanding the role of TCM for promoting blood circulation and removing blood stasis.To this end,this study is to outline numerous cutting-edge platforms that can be utilized for exploring the function of TCM for promoting blood circulation and removing blood stasis in vascular leak-driven diseases.METHODS Two-photon laser scanning fluorescence microscopy was used to observe the interactions between neutrophils and blood vessels in a real-time manner.Dynamic flow system was employed to mimic the in vivo behaviors of neutrophils.RIP1-Tag5 spontaneous pancreatic cancer model was used to study the function of tumor blood vessels.CCM2ECKO(deletion of CCM2 in endothelial cells)mice were employed to establish the cerebral cavernous malformation(CCM)animal model.Micro-computed tomography(micro-CT)was utilized to assess the CCM lesion.Müller cell-knockout mouse model was used to study the progression of diabetic retinopathy.Vascular permeability in this model was assessed by fluorescein angiography.RESULTS The interactions between neutrophils and endothelial cells involve a series of complicated processes,including rolling,adhesion,intraluminal crawling and transmigration,which were all monitored in vivo by two-photon laser scanning fluorescence microscopy in a real-time manner.Dynamic flow system was capable of recapitulating the biological behaviors of neutrophils in vitro.Tumor vascular function in particular vascular perfusion could be assessed in the RIP1-Tag5 spontaneous pancreatic cancer model.In terms of CCM studies,specific deletion of CCM2 in endothelial cells resulted in the initiation of CCM lesion.The size and number of CCM lesions could be visualized and quantified by micro-CT.Furthermore,the Müller cell-knockout mouse model was able to precisely reflect the clinical symptoms of diabetic retinopathy.Vascular leak could be monitored at different time points using fluorescein angiography.CONCLUSION An array of high technologies and animal models can be used in investigating the occurrence and progression of multiple vascular leak-driven diseases.The pre-clinical and clinical studies of TCM for promoting blood circulation and removing blood stasis provide fundamental support for the application of the above-mentioned platforms,with the purpose of uncovering the scientific basis of TCM for promoting blood circulation and removing blood stasis.
文摘Background:Cerebral cavernous malformations(CCMs),a major neurosurgical condition,characterized by abnormally dilated intracranial capillaries,result in increased susceptibility to stroke.KRIT1(CCM1),MGC4607(CCM2),and PDCD10(CCM3)have been identified as causes of CCMs in which at least one of them is disrupted in most familial cases.Our goal is to identify potential biomarkers and genetic modifiers of CCMs,using a global comparative omics approach across several in vitro studies and multiple in vivo animal models.We hypothesize that through analysis of the CSC utilizing various omics,we can identify potential biomarkers and genetic modifiers,by systemically evaluating effectors and binding partners of the CSC as well as second layer interactors.Methods:We utilize a comparative omics approach analyzing multiple CCMs deficient animal models across nine independent studies at the genomic,transcriptomic,and proteomic levels to dissect alterations in various signaling cascades.Results:Our analysis revealed a large set of genes that were validated across multiple independent studies,suggesting an important role for these identified genes in CCM pathogenesis.Conclusion:This is currently one of the largest comparative omics analysis of CCM deficiencies across multiple models,allowing us to investigate global alterations among multiple signaling cascades involved in both angiogenic and non-angiogenic events and to also identify potential biomarker candidates of CCMs,which can be used for new therapeutic strategies.