Cerebral cavernous hemangioma in a family with mutation p.L436fs in KRIT1 gene / 中华神经科杂志

Objective:To investigate the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma by a pedigree study of this disease.Methods:A family of cerebral cavernous hemangioma who was admitted to the Department of Neurology of the First Affiliated Hospital of Henan University of Science and Technology in April 2019 was diagnosed as cerebral cavernous hemangioma type 1 based on clinical manifestations and head magnetic resonance imaging (MRI), diffusion weighted imaging and susceptibility weighted imaging screening. According to Zabramski classification criteria, the family′s clinical data were collected and genes were sequenced.Results:A 58-year-old female proband had dizziness and headache as the main symptoms, her daughter and son had no clinical symptoms, and her granddaughter had clinical manifestations of cerebral hemorrhage and seizures. The proband and her family members showed multiple cavernous hemangioma on cranial MRI,and the p.L436fs mutation in the KRIT1 gene of familial cerebral cavernous malformation type 1 was confirmed through genetic examination, which was consistent with the Zabramski typing results based on head MRI. The mutation site of the familial spongiform malformation type 1 pathogenic gene was found to be p.L436fs in KRIT1 gene, which has not been reported in familial cerebral cavernous hemangioma type 1 until now.Conclusion:A new p.L436fs mutation of KRIT1 gene was found in familial cerebral cavernous malformation type 1, which expands understanding of the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma.

Effect analysis of Gamma knife radiosurgery for cavernous sinus cavernous hemangioma / 中国脑血管病杂志

ObjectIve To evaluate the safety and efficacy of Gamma knife radiosurgery for the treatment of cavernous sinus cavernous hemangioma. Methods From June 2010 to July 2016, 35 consecutive patients with cavernous sinus cavernous hemangioma treated with Gamma knife radiosurgery at the Department of Neurosurgery,West China Hospital,Sichuan University were enrolled retrospective, including 22 females and 13 males. All patients were diagnosed by MRI before procedure. They were confirmed by postoperative histopathology or further verification by MRI. The irradiation dose of Gamma knife around tumors were 11-16 Gy (mean 14. 3 ± 1. 1 Gy),covered by 45%-50% isodose line and ensured that the exposure dose of the optic cross was less than 8 Gy. In the first year after operation,they were followed up at 3,6,9,and 12 months,and after that,the clinical efficacy,surgical complications and tumor volume were evaluated once a year. Results Thirty-five patients were followed up for 12-77 months (mean 36 ± 4 months). No surgery-related optic nerve injury and new cranial nerve injury occurred in all cases . Symptomatic patients were 28 (80%)and symptomatic improvement rate was 96. 4%(n＝27),among them,the symptoms were improved in 15 cases (53. 6%),and the symptoms disappeared in 12 cases (42. 9%),did not have any change in 1 (3. 6%)case,and no symptom deterioration occurred. The symptom improvement time was 2-7 months after surgery (mean 3. 7 ± 0. 3 months). Imaging follow-up revealed that in 35 patients with cavernous sinus cavernous hemangioma treated by gamma knife radiosurgery,the tumor volume was significantly reduced after treatment compared with that before treatment,and the difference wasstatisticallysignificant(8.8±0.9cm3vs.32.6±3.6cm3,t＝8.492,P＜0.01).Theratesoftumor volume change were ≤25%,26%-50%,51%-75%,and ≥75%. There were 3 patients (8. 6%), 2 (5. 7%),8 (22. 9%),and 22 (62. 9%),respectively. Conclusions Gamma knife radiosurgery is safe and effective in the treatment of cavernous sinus cavernous hemangioma. It can be used as the preferred treatment modality for this disease,but long-term follow-up is needed to observe its long-term efficacy.

Manifestaciones imaginológicas de las malformaciones cavernosas del sistema nervioso central / Imaging Manifestations of Cavernous Malformations of the Central Nervous System

El propósito de esta revisión es resaltar la epidemiología, presentación clínica y características imaginológicas de las malformaciones cavernosas del sistema nervioso central, especialmente en sus diferentes localizaciones, con el objetivo de brindarle al radiólogo claves para el diagnóstico de esta patología potencialmente curable. De las bases de datos de nuestras instituciones recolectamos casos de malformaciones cavernosas. Las imágenes de TC, MR y angiografía fueron evaluadas, y el tamaño, la localización, las características imaginológicas y los hallazgos asociados fueron registrados. Adicionalmente, se revisó la literatura científica pertinente a este tema para proveer una manera práctica de hacer una aproximación diagnóstica de esta malformación. Las malformaciones cavernosas son lesiones vasculares congénitas compuestas por vasos sinusoidales que forman una masa compacta. Pueden ocurrir en cualquier sitio del encéfalo y de la médula espinal. Imaginológicamente pueden presentar ciertas características alarmantes que pueden simular otras patologías más agresivas e incluso malignas. El conocimiento de los hallazgos característicos según su localización es esencial para evitar tratamientos innecesarios. Las malformaciones cavernosas del SNC pueden presentar ciertos rasgos que se sobreponen con patologías más malignas. Complicaciones asociadas como son la hemorragia y el edema perilesional pueden afectar aún más el diagnóstico adecuado. Por esta razón, es indispensable que el radiólogo conozca el comportamiento imaginológico de estas lesiones.

The purpose of this revision is to highlight the demographics, clinical presentation, and imaging features of cavernous malformations (CA) of the central nervous system, especially in its different locations, with the purpose of providing the radiologist clues regarding the diagnosis of this potentially curable pathology. We collected cases of cavernous malformations from the databases at our institutions. CT, MR and angiographic studies were evaluated and lesion size, location, imaging characteristics, multiplicity, and associated findings were recorded. Additionally, the scientific literature pertinent to the subject was reviewed in a practical manner in order to provide a practical manner of making a diagnostic approach of this malformation. Cavernous malformations are congenital vascular lesions composed of sinusoid- type blood vessels that assemble into a compact mass. They may occur in any location in the brain and in the spinal cord. In terms of imaging, they may present certain alarming characteristics that may mimic more aggressive or malignant entities. Associated complications such as hemorrhage and perilesional edema may affect adequate diagnosis at an ever larger degree. For this reason, it is essential that the radiologist is familiar with the imaging behavior of these lesions.

Diagnostic value of susceptibility-weighted imaging for intracranial cavernous hemangioma / 中华全科医师杂志

To explore the diagnostic value of susceptibility weighted imaging (SWI) for intracranial cavernous hemangioma.The magnetic resonance sequences of SWI,conventional imaging (MRI) and diffusion-weighted imaging (DWI) were performed in 37 patients of intracranial cavernous hemangioma to compare their different imaging capacities.Among them,the number of lesions found on T1WI,T2WI,DWI and SWI sequences were 40,41,42 and 50 respectively.Thus SWI may detect regular MRI negative or smaller lesions of intracranial cavernous hemangioma.

Clinical and imaging feature of 3 patients with combined developmental venous anomalies and cerebral cavernous malformations / 中华神经科杂志

Objective To investigate the clinical,neuroradiologic characteristics and possible causes in 3 patients with combined developmental venous anomalies (DVAs) and cerebral cavernous malformations (CCM).Methods The clinical examination,magnetic resonance imaging (MRI) T1-weighted (T1 WI),T2-weighted (T2WI),susceptibility-weighted imaging (SWI) or T2 fast field echo (T2 FFE),contrast-enhanced MRI at 1.5 T field strength and digital substrate angiography were performed in 3 patients.Results Three patients presented with the seizure,vertigo,and dizziness respectively.MRI findings of reticulated “popcorn like” lesion with complete hemosiden rim showed typical sign of CCM.DSA,contrast-enhanced MRI and MRI-SWI revealed the caput medusae of the medullary veins and collected veins which was drained into subcortical and deep venous system,which indicated DVAs in 3 patients.The angulated medullary veins and collected veins in approaching distal zone of CCM were observed.Conclusion DVAs can be combined with CCM.The angulated medullary veins and collected veins combined with CCM in same territory reveals that the angioarchitectural factors is a key factor in pathogenesis of cavernous malformation.

Application of located needles guided by intraoperative ultrasound in resection of brain cavernous malformations / 中华超声影像学杂志

Objective To explore the value of the located needles guided by intraoperative ultrasound in resection of brain cavernous malformations. Methods Fourteen patients diagnosed as brain cavernous malformations confirmed by preoperative CT and MRI. Detected by the located needles under intraoperative ultrasound guidance, 14 lesions were excised. Results Intraoperative ultrasound-guided needles accurately located 14 cases of patients with brain cavernous malformations. Fourteen lesions were removed successfully. The distances between lesions and the dura mater were 1.5-2.9 cm,the sizes of lesions were 0.8-2.8 cm. Fourteen lesions by color Doppler flow imaging showed point-like blood flow. Conclusions Brain cavernous malformations can be accurately detected by the located needles under intraoperative ultrasound guidance.

Cerebral cavernous angiomas:clinical,pathophysiological and imaging features in one Chinese family / 中华神经科杂志

Objective To investigate clinical symptoms,pathophysiology and brain imaging features of Chinese familial cerebral cavernous angiomas.Methods Head MRI examination,clinical and pathophysiological examination were performed in a Chinese family with one proband of cerebral cavernous malformation.The disease atlas of the family was drawn.The patients indicative of a surgery underwent resection of hemangioma whose pathophysiology and microstructure were observed.Results Nine familial cerebral cavernous angiomas patients were found to have multiple intracranial lesion in the 18 family members,the penetrance being 50%,conforming to the feature of autosomal incomplete dominance inheritance.Four patients with skin cavernous hemangioma had familial cerebral cavernous angiomas.MRI was the most sensitive modality for the diagnosis of cavernous angioma.With T_2-Weighted sequences,the lesion was typically characterized by an area of mixed signal intensity,with a central reticulated core and a peripheral rim of decreased signal intensity related to deposition of hemosiderin.Gradient-echo(GRE)MRI could find microcavernous hemangiomas that would not be found in other sequences.Cavernous angiomas were typically discrete multilobulated berrylike lesions that contained hemorrhage in various stages of evolution.Histological homogeneity and overlap with other vascular malformations such as capillary telangictasia was common.Cavernous angiomas were composed of endothelial-linked sinusoidal spaces not separated by significant amounts of neural tissue.Hemorrhagic residua were common.Clots at different stages of evolution within the lesion were seen.The basic membranes of sinus became thick and soft.Parts of it were layered.Conclusions Familial cerebral cavernous angiomas is an autosomal incomplete dominance inheritance disease.Cavernous angiomas are composed of endothelial-linked sinusoidal spaces not separated by significant amounts of neural tissue.There are more than one focus in every patients and the skin cavernous angiomas is the foundation of diagnosing familial cerebral cavernous angiomas.Gradient-echo imagine sequence MRI(3.0 T)could be the"golden standard".

DIAGNOSIS AND MICROSURGERY OF SPINAL CORD CAVERNOUS HEMANGIOMAS / 解放军医学杂志

Objective To sum up the experiences in microneurosurgical treatment of spinal cord cavernous hemangiomas (SCH). Methods A retrospective analysis was made of 17 cases of SCH admitted from March 1992 to December 2002. Operations were performed via a posterior midline approach under a microscope. Results Total SCH resection was done in 13 cases, and subtotal removal in 4. The postoperative neurological status was improved in 11 cases, unchanged in 4, and aggravated in 2. No postoperative death occurred. Conclusion Spinal MRI examination is a reliable diagnostic method of SCH. Skillful microneurosurgical technique can achieve a rather good result.