Vascular Anomalies of the Orbit--A Reappraisal.

The recent International Society for the Study of Vascular Anomalies (ISSVA) classification of vascular anomalies can be applied to orbital lesions, dividing them into vascular tumors and vascular malformations. Orbital cavernous hemangiomas are probably best considered cavernous venous malformations under this classification. Management of symptomatic lesions can be with surgical excision or stereotactic fractionated radiotherapy in selected cases. Beta-blockers including propranolol and topical timolol maleate represent first-line therapy for infantile hemangiomas, although surgery has a role in selected cases. Orbital venous-lymphatic malformations are problematic but with improved imaging, neuroradiological intervention, and a multidisciplinary approach to management, outcomes are improving.

Diagnóstico molecular de cavernomatosis cerebral / Molecular diagnosis in cerebral cavernous malformations

Introducción: Las malformaciones cavernosas cerebrales (CCM; OMIM 116860) son engrosamientos cavernosos vasculares sin intervención del parénquima cerebral con una prevalencia estimada en la población general del 0,1-0,5%. La cavernomatosis cerebral presenta un patrón de herencia autosómico dominante con penetrancia clínica y radiológica incompleta. Tres genes se han asociado al desarrollo de lesiones: CCM1/KRIT1, CCM2/MGC4607 y CCM3/PDCD10. Desarrollo: La mutación responsable no es detectada en un alto porcentaje de casos, por lo que nuevos enfoques son necesarios para su detección. En esta revisión se analizan las técnicas actualmente utilizadas y las posibles mutaciones o variantes que pueden ser detectadas en un laboratorio de genética molecular o biología molecular. Asimismo, se analizan alternativas que pueden ser abarcadas para la detección de mutaciones en aquellos pacientes en los que los estudios hayan resultado negativos. Conclusiones: El diagnóstico molecular de la cavernomatosis cerebral debe incluir al menos la detección del número de copias y la secuenciación de los genes CCM. Finalmente, ofrecer un adecuado consejo genético es crucial para proporcionar información y apoyo a los pacientes y familias que padecen la enfermedad (AU)

Introduction: Cerebral cavernous malformations (CCMs; OMIM 116860) are enlarged vascular cavities without intervening brain parenchyma whose estimated prevalence in the general population is between 0.1% and 0.5%. Familial CCM is an autosomal dominant disease with incomplete clinical and radiological penetrance. Three genes have been linked to development of the lesions: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Development: : The aetiological mutation is not detected in a large percentage of cases and new approaches are therefore needed. The aim of this review is to analyse current molecular techniques and the possible mutations or variations which can be detected in a molecular genetics or molecular biology laboratory. Likewise, we will analyse other alternatives that may help detect mutations in those patients showing negative results. Conclusions: A molecular diagnosis of cerebral cavernous malformations should provide at least the copy number variation and sequencing of CCM genes. In addition, appropriate genetic counselling is a crucial source of information and support for patients and their relatives (AU)

Hemangioma y linfangioma mixto congénito gigante / Hemangioma and Mixed Giant Congenital Lymphangioma

Los linfangiomas son malformaciones hamar-tomatosas congénitas y en algunas ocasiones adquiridas que afectan la piel y el tejido subcu-táneo, surgen cuando de forma localizada o generalizada se produce un cúmulo de conductos o quistes linfáticos. Los linfangio-mas representan el 6% de los tumores benig-nos pueden aparecer en cualquier parte del cuerpo, el 75% se localizan en el cuello, la cabeza o las axilas. El 40-65% están presentes al nacimiento. El tratamiento ideal del linfangio-ma depende del grado de in ltración, el tipo de tumor y la experiencia con el tratamiento. Se presenta caso clínico de recién nacido feme-nina, hija de madre de 21 años de edad, primi-gesta con embarazo de 34 1/7 semanas de gestación por FUM y sin antecedentes de relevancia, procedente de la aldea Monte la Virgen, Las Flores, Lempira. Nace en el Hospital Juan Manuel Gálvez, vía cesárea por fase laten-te prolongada. En la exploración física con múl-tiples masas de consistencia blanda con tran-siluminación positiva en cuello y tórax; extre-midades asimétricas a expensas de neoforma-ciones de color rojo-violáceas en las super cies en asociación con hemangiomas. Se observa en piel lesiones eritematosas violáceas y tumo-rales tubero-cavernosas difusas múltiples, especialmente en extremidades superiores, tronco anterior derecho, extremidades inferio-res y región vulvar. Se manejó en sala con Pipe-racilina/Tazobactam, Amikacina, Fluconazol, Inmunoglobulina, Propanolol, Prednisona y vincristina. La paciente falleció a los 8 días de vida.

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 hemangioma. DATA SOURCES: We reviewed the reports on the categorization of hemangioma published between 1970 and 2014. The number of hemangiomas, size criteria, mean and range of hemangioma sizes, and number of asymptomatic and symptomatic 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. Inclusion 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 enucleation (44.1%) were unclearly 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.

Classification and Tie2 mutations in spinal and soft tissue vascular anomalies.

Vascular anomalies included hemangiomas and vascular malformations (VMs). VMs are mediated by mutations in the endothelial cell-specific receptor tyrosine kinase Tie2 (TEK),which is essential for angiogenesis and vascular stabilization. We identified five types of Tie2 mutations in 80 patients with soft tissue or spinal VMs by PCR including the previously detected missense mutations 2690A>G (Y897C), 2740C>T (L914F), 2743C>T (R915C), and two nonsense mutations 2763G>A, 2688C>T, we identified Tie2 mutation in primary spinal VMs for the first time. Tie2 mutations were found to be absent in 33 patients with hemangiomas and DNA samples of VMs. In addition, we showed that Tie2 mRNA expression in spinal VMs was similar to soft tissue VMs, but obviously lower than infant hemangiomas (P<0.01). This study provides new insights into spinal VMs, the association of Tie2 and vascular anomalies needs to be further discussed.

A new classification and clinical results of Gamma Knife radiosurgery for cavernous sinus hemangiomas: a report of 53 cases.

BACKGROUND: Cavernous sinus hemangiomas (CaSHs) are rare vascular lesions in the cavernous sinus(CS). Gamma Knife radiosurgery (GKS) provides a treatment modality alternative to microsurgery. This study was conducted to describe a new classification of CaSHs based on their magnetic resonance (MR) imaging findings and determine the efficacy and safety of GKS in a large series of CaSH patients. METHODS: From April 2007 to November 2012, 53 patients harboring CaSHs were treated using Leksell Gamma Knife model C (before April 2012) or Perfexion (from May 2012 ) at the Gamma Knife Center of Huashan Hospital. Of the 53 patients, 15 with definitive histopathologic diagnoses after surgery, 38 were diagnosed based on their MR imaging findings. There were 15 male and 38 female patients with a mean age of 52 (range, 25-76) years old. The characteristics of MR images of CaSHs were their extremely high homogeneous intensity on T2-weighted and FLAIR images: as bright as cerebrospinal fluid signal. According to the relationship between the carotid line and their location, CaSHs were classified into three types: the intrasellar, parasellar and mixed type. The mean volume of the tumors was 13.2 ± 8.2 cm(3) (range, 1-41 cm(3)). A mean marginal dose of 13.3 Gy (range, 8-15 Gy) was directed to the 49%-64% isodose line (mean 53%). RESULTS: Of the 53 tumors, 6 (11%) were classified as intrasellar type. Eight (15%) were parasellar type and the other 39 cases(74%) mixed type. The mean radiological and clinical follow-up time of this study was 24 (range, 2-67 months) and 34 months (range, 2-73 months), respectively. The tumor control rate was 100%. The mean tumor volume reduction was 79.5% (range, 16.5%-100%) compared with the pre-GKS volume. Six months after GKS, MR imaging revealed an average of 60.2% tumor volume reduction (range, 16.5%-89.2%). Twenty-nine cases (55%) showed a >80% tumor volume decrease. Neurologically, only two of these patients showed clinical deterioration, and 33 patients demonstrated an obvious improvement in ocular or endocrine disorders. At last follow-up, there were no more complications related to GKS, and none of the tumors progressed. CONCLUSIONS: Our study showed that GKS is a useful and safe therapeutic method for CaSHs as both a primary and adjuvant treatment. The new classification of CaSHs may help predict their clinical course during tumor development and treatment response after GKS. Further studies with long-term follow-up and larger numbers of cases are necessary to optimize the treatment conditions and verify the benefit of this treatment.

The role of magnetic resonance diffusion-weighted imaging and three-dimensional arterial spin labelling perfusion imaging in the differentiation of parasellar meningioma and cavernous haemangioma.

OBJECTIVE: To evaluate the diagnostic value of magnetic resonance diffusion-weighted imaging (DWI) and three-dimensional arterial spin labelling perfusion imaging (3D-ASL) in distinguishing cavernous haemangioma from parasellar meningioma, using histological data as a reference standard. METHODS: Patients with parasellar meningioma or parasellar cavernous haemangioma underwent conventional T1- and T2-weighted magnetic resonance imaging (MRI) followed by DWI and 3D-ASL using a 3.0 Tesla MRI. The minimum apparent diffusion coefficient (minADC) from DWI and the maximal normalized cerebral blood flow (nCBF) from 3D-ASL were measured in each tumour. Diagnosis was confirmed by histology. RESULTS: MinADC was significantly lower and nCBF significantly higher in meningioma (n = 19) than cavernous haemangioma (n = 15). There was a significant negative correlation between minADC and nCBF (r = -0.605). CONCLUSION: DWI and 3D-ASL are useful in differentiating cavernous haemangiomas from parasellar meningiomas, particularly in situations when the appearance on conventional MRI sequences is otherwise ambiguous.

Association between cavernous angioma and cerebral glioma. Report of two cases and literature review of so-called angiogliomas.

The association between vascular malformations and cerebral gliomas is unusual. While the association between cavernous angioma with gliomatous lesions is even more rare, it is considered by certain authors to be a particular pathological entity termed angioglioma. The authors report on two cases of association of a cavernous angioma with a ganglioglioma and an oligodendroglioma respectively. Subsequent review of the literature on the so-called angiogliomas was conducted. In the author's opinion, the entity of angiogliomas represents a general spectrum of angiomatous neoplasms that include gliomatous tumors, in the majority low-grade gliomas, associated with a major vascular component.

Vascular tumors of the iris in 45 patients: the 2009 Helen Keller Lecture.

OBJECTIVE: To report on a series of vascular tumors of the iris. DESIGN: Noncomparative case series. A retrospective medical record review of all patients with an iris vascular tumor was performed to identify the clinical features and develop a simple classification of these lesions. Included were demographics, clinical features, systemic associations, complications, management, and histopathology. RESULTS: There were 54 eyes in 45 patients with an iris vascular tumor. These were categorized as racemose hemangioma (41 eyes: 29 simple and 12 complex), cavernous hemangioma (3 eyes: 2 localized and 1 systemic), capillary hemangioma (1 eye, localized), varix (3 eyes, localized), and microhemangiomatosis (6 eyes, localized). The hemangiomas occurred in adults at a median age of 55 years, whereas capillary hemangioma occurred in infancy and cavernous hemangioma with systemic involvement occurred in a child. Of the 41 eyes with iris racemose hemangioma, none showed systemic involvement. Of all 54 eyes, transient hyphema was the main complication, found at some point in 30% or more of each affected eye except for iris capillary and racemose hemangioma. Surgical resection was necessary in 1 cavernous hemangioma and 1 varix. The remainder were managed with observation. CONCLUSIONS: There are now well-documented examples of iris racemose hemangioma, cavernous hemangioma, capillary hemangioma, varix, and microhemangiomatosis. Transient hyphema is the main complication. Observation is usually advised. Most are solitary lesions confined to the iris and some (cavernous hemangioma and microhemangiomatosis) can have important systemic associations.

[Vascular tumors of the orbit]. / Tumeurs vasculaires de l'orbite.

Vascular tumors of the orbit include capillary hemangioma, cavernous hemangioma, hemolymphangioma, hemangiopericytoma and a few rare tumors. Capillary hemangioma and hemolymphangioma, occurring mainly in children, are covered in the chapter devoted to childhood tumors. In this chapter, cavernous hemangioma and hemangiopericytoma are discussed as well as rare vascular tumors. Although orbital varix is not a tumor, it is also considered because of the diagnostic problems and the close correlation of orbital varix with a true tumor: hemolymphangioma.

Angiographic classification and sclerotic therapy of maxillofacial cavernous haemangiomas: a report of 204 cases.

A total of 204 patients with maxillofacial cavernous haemangiomas were examined by digital subtraction angiography to investigate the factors affecting therapeutic outcome and to optimize treatment selection. Cavernous haemangiomas were classified as high- or low-drainage based on the nature of the draining veins. Patients were randomized to receive either embolization of the draining veins with absolute ethanol followed by bleomycin A5 hydrochloride intra-tumoural injection, or intra-tumoural injection only. In patients with high-drainage haemangiomas (n = 140), there were significant improvements in the complete cure rate and the overall effective rate in those who had received embolization prior to intra-tumoural injection compared with those who had received intra-tumoural injection only. In patients with low-drainage haemangiomas (n = 64), there were no significant differences between the two treatment groups. It is concluded that embolotherapy of draining veins prior to hydrochloride injection is effective for treating high-drainage cavernous haemangiomas whereas bleomycin A5 hydrochloride injection alone is suitable for treating low-drainage cavernous haemangiomas.

Cavernous angioma of the vestibular nerve: case report and literature review.

BACKGROUND: To date, 50 cases of cavernous angioma in the CPA have been reported, and previous reports did not describe the tumor's site of origin. We describe a case of a small, extraaxial cavernous angioma of the vestibular nerve. We also propose a reclassification system for cavernous angioma of the CPA based on the tumor's site of origin. CASE DESCRIPTION: A 39-year-old female patient had recurrent deteriorating vertigo and a right hearing disturbance. Magnetic resonance imaging revealed a cavernous angioma of the right CPA. Surgery was performed through a right lateral suboccipital approach. In the present case, the mass was attached to and covered the cisternal portion of the vestibular nerve, and it contained microvessels that were fed from the vascular plexus of the vestibular nerve. The tumor was resected en bloc, and the microvessels feeding it were cauterized. CONCLUSIONS: On the basis of our review of 50 cases of cavernous angioma of the CPA, we propose that these tumors can be classified according to whether they develop from the venous plexus of the dura matter or of a cranial nerve. We also suggest that the site of origin affects the postoperative symptoms.

[Cavernous hemangiomas of the skin of the face and neck and the oral soft tissues].

The structure, clinical manifestations, behavior of cavernous hemangomas of the skin of the face and neck, and the oral soft tissues were studied, by using biopsy specimens from 229 patients. Three types of cavernous hemagiomas of these areas were identified. Their preferred treatments were defined and pathogenetically warranted.

[Classifications and surgical treatments of venous malformations in parotid region].

OBJECTIVE: To summarize clinical and pathological characteristics and surgical experiences of venous malformations in parotid region. METHODS: 39 cases of venous malformations in parotid region were divided into peripheral, honeycomb-like and reticular three classifications according to clinical manifestations and histological characters. Surgical treatments were correspondingly selected as overall excision, overall excision and superficial lob of parotid excision after facial nerve dissection, overall excision and superficial lob of parotid excision combined with pingyangmycin injection. RESULTS: 26 cases were cured, 9 cases with excellent result and 4 cases with effective result. CONCLUSIONS: The new effective classification of venous malformations in parotid region can be a guide to the selection of the therapy on them.

[Vascular tumours and malformation of the orbit]. / Les lésions vasculaires de l'orbite.

Vascular diseases are an important part of orbital pathology. We describe vascular tumours of the orbit and vascular diseases with repercussion on the orbit, from intra or extra orbital origin. The classification of these abnormalities is difficult and several terms are used to describe the same histological entity. The objective of this work is, using the current classification, to illustrate the different imaging aspects of the most frequent vascular diseases of the orbit.

Predictive factors for intracerebral hemorrhage in patients with cavernous angiomas.

OBJECTIVES: Prediction of intracerebral hemorrhage (ICH) in patients with cavernous angiomas is not totally elucidated. The aims of our study were to determine the rate of cerebral hemorrhage, its associated factors, and the clinical outcome in patients with cavernous angiomas in a Hispanic population. METHODS: We studied 133 patients with cavernous angiomas. The patients were classified into two groups depending on whether they presented an ICH. A comparative analysis of demographics and clinical data, neuroimaging characteristics, and prognosis was carried out in patients with and without hemorrhage. The hemorrhage rate (expressed as the percentage per patient per year) was also estimated. RESULTS: Seventy-eight patients (59%) had hemorrhage. Non-lobar location of angiomas was associated with hemorrhage [OR 4.82 (CI 95% 2.17-10.73; p=<0.001)]. In contrast, factors associated with a decreased risk of hemorrhage were a family history of epilepsy [OR 0.30 (CI 95% 0.10-0.79; p=0.016)] and lobar location of the angiomas [OR 0.21 (CI 95% 0.09-0.46; p=<0.001)]. The hemorrhagic rate of 1.71% per patient per year was influenced by the location. It was only 1.22% per patient per year in lobar angiomas and 2.33, 2.39, and 2.82% per patient per year for brainstem, cerebellum, and deep hemispheric angiomas, respectively. CONCLUSIONS: The non-lobar location of cavernous angiomas gives a higher risk of hemorrhage in our Mexican mestizo population, without the hemorrhage being related to either age or sex.

[The angiographic classification and sclerotherapy of cavernous hemangiomas of maxilloface].

OBJECTIVE: To explore the factors that affect the curative effect and the best method of treatment for the patients with maxillofacial cavernous hemangiomas. METHODS: 102 cases of maxillofacial cavernous hemangiomas were performed DSA examination and taken serial photography. According to the diameter, number and draining speed of efferent veins of the tumor, the cavernous hemangiomas were classified into two types-the high efferent speed and low efferent speed type. For all of them, were randomly performed embolization of efferent veins with absolute ethanol plus bleomycin-A5 intratumor injection (group I) and bleomycin-A5 intratumor injection alone (group II). RESULTS: The cure rate and general effective rate has significant difference (P < 0.01) between two groups in 70 patients with high efferent speed veins, while no significant difference (P > 0.05) in 32 patients with low efferent speed veins. CONCLUSIONS: This new classification is beneficial for seeking method of treatment. The embolization of efferent veins is an effective method for cavernous hemangioma with high efferent speed veins; but for the type with low efferent speed veins, bleomycin-A5 intratumor injection alone could acquire a good results.