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Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation

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Chinese Medical Journal 2013年第18期126卷 3427-3432页

作者： WANG Xue LIU Xue-wu Nora Lee LIU Qi-ji LI Wen-na HAN Tao WEI Kun-kun QIAO Shan CHI Zhao-fu Department of Neurology Qilu Hospital Shandong University Jinan Shandong 250012 China Department of Neurology Hartford Hospital Hartford Connecticut 06106 USA Department of Medical Genetics Key Laboratory for Experimental Teratology of the Ministry of Education Shandong University School of Medicine Jinan Shandong 250012 China

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-caus

关键词： cavernous malformation pathology magnetic resonance imaging CCM1 gene mutation Chinese family

Novel,mutable site in the cerebral cavernous malformation-1 gene in Chinese sporadic intracranial cavernous malformation patients

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Neural Regeneration Research 2009年第3期4卷 236-240页

作者： Rong Xie Xiancheng Chen Department of Neurosurgery Huashan Hospital Fudan University Shanghai 200040 China

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.

关键词： sporadic cavernous malformation cerebral cavernous malformation-1 gene mutation

Tailored keyhole surgery for basal ganglia cavernous malformation with preoperative three-dimensional pyramidal tracts assessment and intraoperative electrophysiological monitoring

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Chinese Neurosurgical Journal 2016年第1期2卷 -页

作者： Kai Quan Geng Xu Fan Zhao Wei Zhu Department of Neurosurgery Huashan Hospital Fudan University No.12 Wulumuqi Zhong Road Shanghai 200040 China

Background:Accurately mapping the pyramidal tracts preoperatively and intraoperatively is the primary concern when operating on cavernous malformations (CMS) in the basal *** have conducted new methods for preoperative planning and have tailored lesion resection to prevent the damage of pyramidal *** and methods:Eleven patients harboring cavernous malformations in basal ganglia were treated surgically from April 2008 to January *** planning was based on three-dimensional diffusion tensor pyramidal tractography and Virtual Reality *** detecting of pyramidal tracts with subcortical stimulation mapping and motor evoked potential monitoring were *** extent of resection and postoperative neurological function were assessed in each ***:Total removal of the cavernous malformations were achieved in each *** of the total eleven cases presented temporary neurological deficits,including one occurrence of hemiparesis and three occurrences of *** permanent neurological deficit was developed in this series of ***:Three-dimensional diffusion tensor pyramidal tractography is quite helpful for preoperative planning of basal ganglia cavernous malformations,especially in choosing a suitable surgical *** detection of pyramidal tracts with subcortical stimulation mapping and motor evoked potential monitoring play important roles in preventing damage to pyramidal tracts during lesion resection.

关键词： cavernous malformation Keyhole surgery Diffusion tensor tractography Intraoperative electrophysiological monitoring

Electrocorticography-Guided Surgical Treatment of Solitary Supratentorial cavernous malformations with Secondary Epilepsy

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Chinese Medical Sciences Journal 2014年第2期29卷 112-116页

作者： Chao Wang Chao You Guo-qiang Han Jun Wang Yun-biao Xiong Chuang-xi Liu Department of Neurosurgery Guizhou Provincial People's Hospital Department of Neurosurgery West China Hospital Sichuan University

Objective To evaluate the efficacy of electrocorticographic(ECoG) monitoring and the application of different surgical approaches in the surgical treatment of solitary supretentorial cavernous malformations with secondary epilepsy. Methods This study enrolled a consecutive series of 36 patients with solitary supratentorial cavernous malformations and secondary epilepsy who underwent surgery with intraoperative ECoG monitoring in the Department of Neurosurgery between January 2004 and January 2008. The patients were composed of 15 males and 21 females, aged between 8 and 52 years(mean age 27.3±2.8 years) at the time of surgery. Epilepsy history, the type of epilepsy at the presentation, lesion location, the incidence of residual epileptiform discharges, and postoperative outcomes were evaluated. Results Histopathological examination indicated cavernous malformations and hippocampal sclerosis in 36 and 5 cases, respectively. Neuronal degeneration, glial cell proliferation, and neurofibrillary tangles were found in all the resected cerebral tissues of extended lesionectomy of residual epileptic foci. Lesionectomy, anterior temporal lobectomy, anterior temporal lobectomy plus cortical thermocoagulation, extended lesionectomy, extended lesionectomy plus cortical thermocoagulation were performed in 4, 4, 1, 14, and 13 cases, respectively. Residual epileptiform discharges were captured in 9 out of the 14 patients who had additional cortical thermocoagulation. According to Engle class for postoperative outcomes, 27 cases were class I(75.00%), 5 were class II(13.89%), 2 were class III(5.56%), and 2 were class IV(5.56%), thus the total effective rate(class I+class II) was 88.89%. Neither of epilepsy history, the type of epilepsy, and the location of cavernous malformation was significantly related to outcomes(P>0.05). A significant relationship was found between the incidence of residual epileptiform discharges and outcomes(P=0.041). Conclusions Intraoperative ECoG monitoring

关键词： electrocorticography cavernous malformation epilepsy

Image-guided resection of cerebral cavernous malformations

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Chinese Medical Journal 2003年第10期116卷 1480-1483页

作者：毛颖周良辅杜固宏陈亮 Department of Neurosurgery Huashan HospitalFudan University

Objective To evaluate retrospectively the effectiveness of image-guided navigation techniques in the management of cerebral *** 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.

关键词： brain cavernous malformation image-guided surgery

Intramedullary spinal cavernous malformations with high ossification:a case report and review of the literature

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Chinese Neurosurgical Journal 2023年第3期9卷 224-230页

作者： Weihao Liu Chong Wang Bo Wang Yaowu Zhang Wenqing Jia Department of Neurosurgery Beijing Tiantan HospitalCapital Medical University119South Fourth Ring West RoadFengtai DistrictBeijingChina

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 *** on their origin position,these malformations can be distributed in different locations within the spinal *** intramedullary cavernous malformations have been reported in the literature,they are exceedingly ***,highly calcified or ossified intramedullary cavernous spinal malformations are even *** presentation Here,we present a case report of a 28-year-old woman diagnosed with a thoracic intramedullary cavernous *** patient had been experiencing progressive numbness in her distal limbs for a period of 2 *** routine lung computed tomography screening for COVID-19,a hyperdense mass was noted in the patient’s spinal *** resonance imaging revealed a mulberry-shaped intramedullary mass at the T1-2 *** patient underwent surgical treatment,during which the entire lesion was successfully removed,resulting in a gradual improvement of her *** examination confirmed the presence of cavernous malformations with *** 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.

关键词： cavernous malformation Spinal cord Intramedullary tumor Calcification

Surgical treatment of brainstem cavernous malformations with three basic skull base approaches and minimally invasive techniques: Observations in 20 patients

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Translational Neuroscience and Clinics 2017年第2期3卷 74-83页

作者： Wen Yin Jianrong Ma Yiwei Liao Department of Neurosurgery Xiangya Hospital Central South University

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 *** 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.

关键词： brainstem cavernous malformation cavernoma microsurgery

Giant intraventricular and paraventricular cavernous malformations with multifocal subependymal cavernous malformations in pediatric patients: Two case reports

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World Journal of Radiology 2020年第2期12卷 10-17页

作者： Suwadee Eng-Chuan Supika Kritsaneepaiboon Anukoon Kaewborisutsakul Kanet Kanjanapradit Department of Radiology Faculty of MedicinePrince of Songkla UniversityHat Yai 90110Thailand Neurosugery Unit Department of SurgeryFaculty of MedicinePrince of Songkla UniversityHat Yai 90110Thailand Department of Pathology Faculty of MedicinePrince of Songkla UniversityHat Yai 90110Thailand

BACKGROUND Giant cavernous malformation(GCM)is rarely found in intraventricular or paraventricular *** 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 *** 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 *** Multifocal intraventricular and/or paraventricular GCM in small children is *** characteristic magnetic resonance imaging findings can help to differentiate GCMs from other intraventricular tumors.

关键词： cavernous malformation Giant intraventricular Paraventricular Multifocal subependymal Children Case report

Complete resection of cavernous malformations in the hypothalamus:A case report and review of the literature

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Translational Neuroscience and Clinics 2016年第3期2卷 199-202页

作者： Xingchao Wang Zhenmin Wang Zhixian Gao Pinan Liu Department of Neurosurgery Beijing Tiantan Hospital Capital Medical University Department of Neural Reconstruction Beijing Neurosurgery Institute Capital Medical University

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.

关键词： cavernous malformation deep-location hypothalamus surgery