Transnasal endoscopic approach for orbital apical cavernous hemangiomas:a case report

Cavernous hemangioma is the most primary benign orbital tumor in adults,and majority of cases could be easily settled by surgical treatment.However,cavernous hemangioma lodged deep in the orbital apex remained a challenge because the surgery may pose a high risk of injury to the optic nerve and significant visual loss.This presentation would report a case of cavernous hemangioma located in orbital apex who presented superonasal and inferotemporal peripheral vision defect.The patient received fully transnasal endoscopic surgery,and a 2 cm×1.5 cm tumor was successfully removed from the left orbital apex.The treatment results were satisfactory,with no after-effects and adverse reactions during follow-up.This case highlighted that transnasal endoscopic surgery is a promising technique for cavernous hemangiomas that are located deep in orbital apex.This approach provides direct pathway to tumor with limiting morbidity,maximal surgical field and ample illumination.The procedure represents a safe and less invasive management.

Giant cavernous liver hemangiomas： is it the time to change the size categories？

BACKGROUND： Four different sizes （4, 5, 8 and 10 cm in diameter） can be found in the literature to categorize a liver hemangioma as giant. The present review aims to clarify the appropriateness of the size category ＂giant＂ for liver heman- gioma. DATA SOURCES： We reviewed the reports on the categoriza- tion of hemangioma published between 1970 and 2014. The number of hemangiomas, size criteria, mean and range of hemangioma sizes, and number of asymptomatic and symp- tomatic patients were investigated in patients aged over 18 years. Liver hemangiomas were divided into four groups： 〈5.0 cm, 5.0-9.9 cm, 10.0-14.9 cm and 〉15.0 cm in diameter. Inclu- sion criteria were noted in 34 articles involving 1972 （43.0%） hemangiomas （〉4.0 cm）. RESULTS： The patients were divided into the following groups： 154 patients （30.0%） with hemangiomas less than 5.0 cm in diameter （small）, 182 （35.5%） between 5.0 cm and 9.9 cm （large）, 75 （14.6%） between 10.0 and 14.9 cm （giant）, and 102 （19.9%） more than 15.0 cm （enormous）. There were 786 （39.9%） asymptomatic patients and 791 （40.1%） symptomatic patients. Indications for surgery related to symptoms were reported in only 75 （3.8%） patients. Operations including 137 non-anatomical resection （12.9%） and 469 enudeation （44.1%） were undearly related to size and symptoms.CONCLUSIONS： The term ＂giant＂ seems to be justified for liver hemangiomas with a diameter of 10 cm. Hemangiomas categorized as ＂giant＂ are not indicated for surgery. Surgery should be performed only when other symptoms are apparent.

Characteristic MR imaging findings and surgical treatment of cavernous hemangiomas in cavernous sinus

Objective To analyze the imaging character and surgical therapy of cavernous hemangiomas in cavernous sinus(CSHs).Methods From 2001 to 2008,13 patients with CSHs were surgically treated in our department. The diameters of CSHs varied from 3. 5 cm to 6. 0 cm. Results All the patients were operated on with no mortality.

Resection of Giant Hepatic Cavernous Hemangiomas after Dissection of the Third Porta Hepatis

Objective To establish a novel and safe operation technique for the resection of giant hepatic cavernous hemangiomas involving the retro-hepatic vena cava.Methods After ligating the hepatic artery of affected lobe, the short hepatic veins at the third porta hepatis were dissected and ligated individually to separate the tumor from the retrohepatic vena cava, followed by the resection of the tumor under intermittent interruption of the porta hepatis.Results A total of 62 giant hepatic cavernous hemangiomas were successfully resected without hepatic vascular exclusion. Right and caudate lobectomies were done in 27 cases, right hemihepatectomies in 5 cases, right upper segmentectomies in 7 cases, right posterior lobec-tomies in 7 cases, extended left and caudate lobectomies in 10 cases, and caudate lobectomies in 6 cases. The blood transfusion requirement during operation was 1 400 ml on average. All did well postoperatively during a follow up of 4 - 84 months.Conclusion It is safe and feasible to resect giant hepatic cavernous hemangioma following dissection of the third porta hepatis. During operation the key step is dissection of the short hepatic veins.

Choice between different operative techniques on cavernous hepatic hemangiomas

Objective： To investigate the optimizing of operative techniques on cavernous hepatic hemangioma by comparing the effective of the two approaches （enucleation and hepatectomy）. Methods： From May 1994 to September 2006, fortythree patients underwent the surgical removal of the cavernous hepatic hemangioma were analyzed retrospectJvely. Enucleation was used for 16 cases and hepatectomy for 27 cases. The relative clinical data and operative factors between the two operative techniques were compared. Results： Statistically significant differences in tumor size, location and intraoperative blood lose between the two groups were observed （P 〈 0.05 ）. Although enucleation was associated with less intraoperative bleeding and transfusion requirement but no significant differences in postoperative liver functional parameter, complication and length of hospital stay were observed. Conclusion： With proper choice, enucleation and hepatectomy both are effective treatments for cavernous hepatic hemangiomas.

Treatment of large size cavernous hemangiomas in oromaxillo-facial region by microwave tissue thermo-coagulation:a primary report of 76 cases

From July 1988 to May 1991,the authors had used the microwave tissue thermo-co-agulation method(MTTC)to treat 76 cases of large cavernous hemangiomas in the oro-maxillo-facial region.When a microwave antenna-pin was inserted into the tumor,blood and tissuewithin the tumor began coagulating due to high temperature produced by the mierowave ma-chine.Along with a full coagulation,the tumor may be removed surgically without bleeding.This method has many advantages:(1)less bleeding with little need of blood transfusion;(2)convenience for excision;(3)time for operation markedly shortened;(4)suitability for opera-tion-contraindicated patients.The authors consider that the microwave tissue thermo-coagula-tion method is a rather ideal method for treating large cavernous hemangiomas in the oro-maxil-lo-facial region.In this paper are reported 76 eases of clinical application and animal experimentof microwave tissue thermo-coagulation influences on the muscles and vessels.

A Case of Incidentally Found Bilateral Retroperitoneal Cavernous Hemangiomas

A 59-year-old male was admitted to our hospital because of incidentally found right retroperitoneal tumor. He had undergone removal of a hemangioma in the left oral cavity four years before. An abdominal CT scan performed in our hospital revealed poorly enhanced bilateral retroperitoneal tumors adjacent to kidneys. Those tumors were of low signal intensity on T1-weighted images and high on T2-weighted images by magnetic resonance imaging. The right retroperitoneal tumor of 2.5 cm in size was surgically removed and histopathological examination indicated cavernous hemangioma. The smaller left retroperitoneal tumor of 1.1 cm in size was left untouched to be followed up, as we supposed that it has the same benign pathology. There have been no previous cases of retroperitoneal cavernous hemangioma as a presentation of multiple hemangiomas.

Multiple Cavernous Hemangiomas of the Orbit

Purpose:Cavernous hemangioma of the orbit is often unilateral and solitary.Multiple cavernous hemangiomas of the orbit are extremely rare.The authors reported four patients who had more than two cavernous hemangiomas in one orbit.Methods:Case reports.The clinical features,imaging findings,differential diagnosis and surgical management were presented.Results:We found 4 cases of multiple cavernous hemangiomas of the orbit out of 214 records of all patients with orbital cavernous hemangiomas who were referred to us from Jan 1,1986 to Dec 31,2000.Two patients were female and two were male.The mean age was 46.5 years,ranging from 37.0 to 57.0 years.The left orbits were affected in all patients,with two,three,eight and ten tumors,respectively.The most common complaint was a painless,gradually progressive proptosis.The characteristic CT imaging features were multiple well circumscribed,round or ovoid masses that were sharply delineated from the surrounding tissue.B-scan ultrasonography showed round-shaped orbital masses with high internal reflectivity.The therapeutic outcomes of lateral or anterior orbitotomy were excellent.Conclusion:Although rare,cavernous hemangioma should be considered in the differential diagnosis of patients with multiple orbital mass lesions.

Resection of Intracranial Giant Cavernous Malformation: Case Report and Literature Review

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.

Endovascular treatment of direct carotid cavernous fistula resulting from rupture of intracavernous carotid aneurysm: A case report

BACKGROUND Direct carotid cavernous fistulas(CCFs)are typically the result of a severe traumatic brain injury.High-flow arteriovenous shunts secondary to rupture of an intracavernous aneurysm,resulting in direct CCFs,are rare.The use of a pipeline embolization device in conjunction with coils and Onyx glue for treatment of direct high-flow CCF resulting from ruptured cavernous carotid artery aneurysm in a clinical setting is not well documented.CASE SUMMARY A 58-year-old woman presented to our department with symptoms of blepharoptosis and intracranial bruits for 1 wk.During physical examination,there was right eye exophthalmos and ocular motor palsy.The rest of the neurological examination was clear.Notably,the patient had no history of head injury.The patient was treated with a pipeline embolization device in the ipsilateral internal carotid artery across the fistula.Coils and Onyx were placed through the femoral venous route,followed by placement of the pipeline embolization device with assistance from a balloon-coiling technique.No intraoperative or perioperative complications occurred.Preoperative symptoms of bulbar hyperemia and bruits subsided immediately after the operation.CONCLUSION Pipeline embolization device in conjunction with coiling and Onyx may be a safe and effective approach for direct CCFs.

Intrahepatic portal venous systems in adult patients with cavernous transformation of portal vein: Imaging features and a new classification

Background: Cavernous transformation of the portal vein(CTPV) due to portal vein obstruction is a rare vascular anomaly defined as the formation of multiple collateral vessels in the hepatic hilum. This study aimed to investigate the imaging features of intrahepatic portal vein in adult patients with CTPV and establish the relationship between the manifestations of intrahepatic portal vein and the progression of CTPV. Methods: We retrospectively analyzed 14 CTPV patients in Beijing Tsinghua Changgung Hospital. All patients underwent both direct portal venography(DPV) and computed tomography angiography(CTA) to reveal the manifestations of the portal venous system. The vessels measured included the left portal vein(LPV), right portal vein(RPV), main portal vein(MPV) and the portal vein bifurcation(PVB). Results: Nine males and 5 females, with a median age of 40.5 years, were included in the study. No significant difference was found in the diameters of the LPV or RPV measured by DPV and CTA. The visualization in terms of LPV, RPV and PVB measured by DPV was higher than that by CTA. There was a significant association between LPV/RPV and PVB/MPV in term of visibility revealed with DPV( P = 0.01), while this association was not observed with CTA. According to the imaging features of the portal vein measured by DPV, CTPV was classified into three categories to facilitate the diagnosis and treatment. Conclusions: DPV was more accurate than CTA for revealing the course of the intrahepatic portal vein in patients with CTPV. The classification of CTPV, that originated from the imaging features of the portal vein revealed by DPV, may provide a new perspective for the diagnosis and treatment of CTPV.

Endoscopic ultrasound-guided lauromacrogol injection for treatment of colorectal cavernous hemangioma:Two case reports

BACKGROUND Colorectal cavernous hemangioma is a rare vascular malformation resulting in recurrent lower gastrointestinal hemorrhage,and can be misinterpreted as colitis.Surgical resection is currently the mainstay of treatment,with an emphasis on sphincter preservation.CASE SUMMARY We present details of two young patients with a history of persistent hematochezia diagnosed with colorectal cavernous hemangioma by endoscopic ultrasound(EUS).Cavernous hemangioma was relieved by several EUS-guided lauromacrogol injections and the patients achieved favorable clinical prognosis.CONCLUSION Multiple sequential EUS-guided injections of lauromacrogol is a safe,effective,cost-efficient,and minimally invasive alternative for colorectal cavernous hemangioma.

CT and MRI Findings of Intracranial Cavernous Hemangioma Malformation

Objective:To investigate the computed tomography(CT)and magnetic resonance imaging(MRI)features of cavernous hemangioma malformation(CHM)to enhance diagnostic accuracy.Methods:The CT and MRI findings and clinical information of 23 patients with CHM were retrospectively analyzed.Results:CT examinations were conducted in 7 cases,while MRI was utilized in 23 cases.Additionally,SWI was employed in 5 cases and enhanced imaging techniques were applied in 14 cases.Among the observed lesions,20 cases presented with a singular lesion,whereas 3 cases exhibited multiple lesions.The lesions were located in 8 frontal lobes,6 cerebellums,2 brainstems,6 temporal lobes,1 basal ganglia,3 parieto-occipital lobes,and 2 thalamus regions.The nodules appeared as quasi-circular lesions with clear or well-defined boundaries.They presented as isodense lesions on CT scans,with one lesion showing peritumoral edema.On MRI,T1-weighted imaging(T1WI)demonstrated isointense signals,while T2-weighted imaging(T2WI)showed isointense and hyperintense signals.Additionally,10 lesions exhibited a low signal ring on T2WI.Diffusion-weighted imaging(DWI)revealed nodular or isointense low signals,while susceptibility-weighted imaging(SWI)displayed enlarged areas of low signal.Fourteen lesions underwent contrast-enhanced scanning,with 2 lesions showing no obvious enhancement,1 lesion demonstrating mild to moderate enhancement,and 11 lesions exhibiting significant enhancement.Notably,6 of these enhanced lesions were surrounded by small blood vessels.Conclusion:Cavernous hemangioma malformation is more commonly found in individual cases.CT alone lacks specificity,making it prone to misdiagnosis.A more comprehensive evaluation of cavernous hemangioma malformation can be achieved through a combination of MRI,DWI,SWI,and enhanced examination,providing valuable references for clinical assessment.

Intermittent melena and refractory anemia due to jejunal cavernous lymphangioma:A case report

BACKGROUND Lymphangiomas in the gastrointestinal tract are extremely rare in adults.As a benign lesion,small intestine lymphangiomas often remain asymptomatic and pose challenges for definitive diagnosis.However,lymphangiomas can give rise to complications such as abdominal pain,bleeding,volvulus,and intussusception.Here,we report a case of jejunal cavernous lymphangioma that presented with intermittent melena and refractory anemia in a male adult.CASE SUMMARY A 66-year-old man presented with intermittent melena,fatigue and refractory anemia nine months prior.Esophagogastroduodenoscopy and colonoscopy were performed many times and revealed no apparent bleeding.Conservative management,including transfusion,hemostasis,gastric acid secretion inhibition and symptomatic treatment,was performed,but the lesions tended to recur shortly after surgery.Ultimately,the patient underwent capsule endoscopy,which revealed a more than 10 cm lesion accompanied by active bleeding.After singleballoon enteroscopy and biopsy,a diagnosis of jejunal cavernous lymphangioma was confirmed,and the patient underwent surgical resection.No complications or recurrences were observed postoperatively.CONCLUSION Jejunal cavernous lymphangioma should be considered a cause of obscure gastrointestinal bleeding.Capsule endoscopy and single-balloon enteroscopy can facilitate diagnosis.Surgical resection is an effective management method.

Giant cavernous aneurysms occluded by aneurysmal thrombosis,calcification,parent artery occlusion:A case report and review of literature

BACKGROUND Patients with giant intracranial aneurysms(GIAs)are at a high risk of rupture,morbidity,and mortality even after surgical or endovascular treatment.We described a case of a spontaneously occluded GIA secondary to gradual growth of the GIA,continuously progressed aneurysmal thrombosis,complete aneurysmal calcification and complete occlusion of the parent artery-the right internal carotid artery(RICA).CASE SUMMARY A 72-year-old female patient complained of sudden pain in her right eye upon admission to our hospital.She had been diagnosed with a GIA[30 mm(axial)×38 mm(coronal)×28 mm(sagittal)]containing an aneurysmal thrombus located in the cavernous sinus segment of RICA diagnosed by magnetic resonance imaging(MRI),enhanced MRI,and magnetic resonance angiography more than 14 years ago.Later,with slow growth of the cavernous carotid GIA,aneurysmal thrombosis progressed continuously,spontaneous occlusion of the RICA,complete aneurysmal calcification,and occlusion of the GIA occurred gradually.She had no history of subarachnoid hemorrhage but missed the chance for endovascular therapy at an early stage.As a result,she was left with severe permanent sequelae from the injuries to the right cranial nerves Ⅱ,Ⅲ,Ⅳ,V1/V2,and Ⅴ.CONCLUSION The risk of rupture of the cavernous carotid GIAs was relatively low and possibly further be reduced by the stasis flow and spontaneous occlusion of the parent artery internal carotid artery(ICA)induced by the mass effect of the cavernous carotid GIAs and the extremely rare aneurysmal calcification.However,nowadays,it is advisable to recommend early endovascular treatment for the cavernous carotid GIAs to prevent injuries to the surrounding intracranial nerves and occlusion of the ICA,mainly caused by the mass effect of the cavernous carotid GIAs.

Antioxidative mechanism of Lycium barbarum polysaccharides promotes repair and regeneration following cavernous nerve injury

Polysaccharides extracted from Lycium barbarum exhibit antioxidant properties.We hypothesized that these polysaccharides resist oxidative stress-induced neuronal damage following cavernous nerve injury.In this study,rat models were intragastrically administered Lycium barbarum polysaccharides for 2 weeks at 1,7,and 14 days after cavernous nerve injury.Serum superoxide dismutase and glutathione peroxidase activities significantly increased at 1 and 2 weeks post-injury.Serum malondialdehyde levels decreased at 2 and 4 weeks.At 12 weeks,peak intracavernous pressure,the number of myelinated axons and nicotinamide adenine dinucleotide phosphate-diaphorase-positive nerve fibers,levels of phospho-endothelial nitric oxide synthase protein and 3-nitrotyrosine were higher in rats administered at 1 day post-injury compared with rats administered at 7 and 14 days post-injury.These findings suggest that application of Lycium barbarum polysaccharides following cavernous nerve crush injury effectively promotes nerve regeneration and erectile functional recovery.This neuroregenerative effect was most effective in rats orally administered Lycium barbarum polysaccharides at 1 day after cavernous nerve crush injury.

Clinical-radiological-pathological correlation of cavernous sinus hemangioma: Incremental value of diffusion-weighted imaging

AIMTo elucidate the clinical, magnetic resonance imaging (MRI), pathological features of these lesions and asses the incremental value of diffusion-weighted imaging (DWI) in diagnosing them. METHODSFifteen consecutive patients (11 females and 4 males; mean age 40.93 years; age range 13-63 years) with cavernous sinus hemangiomas (CSH) who underwent examination between November 2008 and May 2016 were included for the analysis. MRI, clinical and surgical findings of each patient was retrospectively reviewed. DWI were also analysed and mean-apparent diffusion coefficient (ADC) value was calculated. Eleven patients underwent surgical removal of the lesion and 2 patients had biopsy only. Diagnosis of CSH was confirmed histologically in 13 patients. RESULTSEleven patients (73%) presented with headaches and 10 (66%) had cranial nerve involvement. Extra cavernous sinus extension was noted in 14 (94%). Surgery was performed in 13 (87%) and post-operative radiation was given to 4 (28%) patients. Thirteen patients remained asymptomatic on follow up. Three conspicuous imaging features were highly suggestive of the diagnosis: Lack of diffusion restriction (100%), homogeneous hyperintensity on T2 weighted image sequences (93.3%) and intense post-contrast enhancement (100%). The mean ADC was 1.82 × 10-3 ± 0.2186 cm2/s. CONCLUSIONT1-weighted hypointensity with homogeneous hyperintensity on T2-weighted sequences, intense enhancement and absence of hemosiderin within the lesion on GRE sequence favour the diagnosis. Facilitated diffusion on DWI differentiates CSH from other solid cavernous sinus lesions and significantly improves the diagnostic accuracy, a critical factor for planning surgery.

Adipose-derived stem cells modified by BDNF gene rescue erectile dysfunction after cavernous nerve injury

Cavernous nerve injury is the main cause of erectile dysfunction following radical prostatectomy.The recovery of erectile function following radical prostatectomy remains challenging.Our previous studies found that injecting adipose-derived stem cells(ADSCs)into the cavernosa could repair the damaged cavernous nerves,but the erectile function of the treated rats could not be restored to a normal level.We evaluated the efficacy of ADSCs infected with a lentiviral vector encoding rat brain-derived neurotrophic factor(lenti-rBDNF)in a rat model of cavernous nerve injury.The rats were equally and randomly divided into four groups.In the control group,bilateral cavernous nerves were isolated but not injured.In the bilateral cavernous nerve injury group,bilateral cavernous nerves were isolated and injured with a hemostat clamp for 2 minutes.In the ADSCGFP and ADSCrBDNF groups,after injury with a hemostat clamp for 2 minutes,rats were injected with ADSCs infected with lenti-GFP(1×106 in 20μL)and lenti-rBDNF(1×106 in 20μL),respectively.Erectile function was assessed 4 weeks after injury by measuring intracavernosal pressures.Then,penile tissues were collected for histological detection and western blot assay.Results demonstrated that compared with the bilateral cavernous nerve injury group,erectile function was significantly recovered in the ADSCGFP and ADSCrBDNF groups,and to a greater degree in the ADSCrBDNF group.Neuronal nitric oxide synthase content in the dorsal nerves and the ratio of smooth muscle/collagen were significantly higher in the ADSCrBDNF and ADSCGFP groups than in the bilateral cavernous nerve injury group.Neuronal nitric oxide synthase expression was obviously higher in the ADSCrBDNF group than in the ADSCGFP group.These findings confirm that intracavernous injection with ADSCs infected with lenti-rBDNF can effectively improve erectile dysfunction caused by cavernous nerve injury.This study was approved by the Medical Animal Care and Welfare Committee of Wuhan University,China(approval No.2017-1638)on June 20,2017.

Magnetic Resonance Imaging and Biological Markers in Pituitary Adenomas with Invasion of the Cavernous Sinus Space

Objective: To investigate the predictability of MRI and the possiblebiological markers of cavernous sinus invasion of pituitary adenomas associated with fourphenomenas: angiogenesis, cell proliferation, apoptosis and matrix metalloproteinase. Methods: Weevaluated 45 patients with pituitary adenoma according to the MRI, surgical findings and theimmunohistochemistry staining of tumor tissues. Results: The results have shown that the sensitivityof MRI for predicting cavernous sinus invasion in this prospective study was 60%, its specificity85%, its positive predictive value 83.33%, negative predictive value 62.96%. 45 specimens ofpituitary adenomas were analyzed for expression of F8, VEGF, Ki-67, c-myc, Bcl-2, nm23 and MMP-9immunoreactivity using immunoperoxidase staining. MVD was assessed using F8-related antigen. Theresults have shown that MVD of invasive pituitary adenomas was significantly higher than that ofnoninvasive (P 【 0.001). There was an association between the invasion of pituitary adenomas andKi-67 LI (P = 0.039) or the expression of VEGF (P 【 0.001) and MMP-9 (P 【 0.001). But c-myc LI andBcl-2 expression have no association with invasiveness of pituitary adenomas (P = 0.061 versus P =0.201). On the other hand, there is an inverse relationship between nm23 expression and tumorinvasion (P 【 0.001). Conclusion: Parasellar extension of pituitary adenomas through the medial wallof the cavernous sinus is diagnosed at surgery, and with sensitive gadolinium-enhanced MRI, itsextent can be partly determined by radiology. Although our study has shown that MVD and theexpression of VEGF, Ki-67, nm23 and MMP-9 have associations with invasiveness of pituitary adenomas,they are lack of specificity. These markers can only provide some useful information.

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

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.