Group Of Vascular Malformations Research Articles

A CASE REPORT OF RARE LOCALİZATİON FOR CAVERNOMA İN MİDBRAİN

Cavernous malformations are classified as a group of vascular malformations of the central nervous system. It usually occurs in the supratentorial region, rarely in the brainstem. When they are symptomatic, headache, brain stem signs, sensory and motor changes can usually occur. But it can be confused with a stroke in the case of acute developing lateralizing sensory-motor symptoms, especially in the absence of brainstem signs. It can be distinguished from hematoma by its well-circumscribed and nodular appearance. Although the prognosis is generally good, it can lead to serious deficits in patients with malformations in the brainstem. In our case report, it was found that it is worth presenting a case that started acutely without brain stem findings and had a good prognosis at 3-month follow-up with loss of strength on the right side and was treated conservatively.

Management of visceral vascular anomalies

Visceral vascular anomalies are common in patients with vascular malformations in other parts of the body and can include lymphatic, venous, and arteriovenous malformations. Depending on the organ or organs involved they may present differently and pose different treatment challenges. Defining the malformation and understanding its extent is paramount in devising management regimens. Medical, interventional, and surgical therapies are often required in combination to treat these complex lesions. There are new and promising advances in the development of therapeutic agents targeting the PI3K/AKT/mTOR pathway. Due to the complex nature of these lesions a coordinated, multi-disciplinary approach is necessary to manage and mitigate symptoms and complications of this diverse group of vascular malformations.

Use of Sodium Tetradecyl Sulphate for Treatment of Oral Lesions

Background: Sclerotherapy is defined as the “targeted elimination of small vessels, varicose veins and vascular anomalies by the injection of a sclerosant. This study aimed to analyze the effect of a sclerosing agent 3% Sodium tetradecyl sulfate (STS) on different oral lesions and to evaluate whether sclerotherapy can be a potent alternative to other treatment modalities. Methods: A descriptive study was done in the Department of Oral Medicine and Radiology and the Department of Oral and Maxillofacial Surgery, Nobel Medical College Teaching Hospital, Biratnagar between September 2016 and June 2019. Results: A Total of 46 patients treated by 3%STS were retrospectively identified. After exclusion, 38 patients were selected for the study. Out of 38 patients 9 belonged to vascular malformation group, 15 to pyogenic granuloma group, 2 to lymphangioma group, 8 to mucocele group and 4 to ranula group. 25 patients (65.79%) showed complete response, 4 patients (10.53%) showed good response, 3 patients (7.89%) showed moderate response, 2 patients (5.26%) showed mild response and 4 patients (10.53%) showed no response. Conclusions: Sclerotherapy with sodium tetradecyl sulfate 3% is effective in the treatment of different oral lesions such as vascular malformations, pyogenic granuloma, lymphangioma, and mucocele.
 Keywords: lymphangioma; mucocele; pyogenic granuloma; sclerotherapy; sodium tetradecyl sulfate; vascular malformation

A somatic activating NRAS variant associated with kaposiform lymphangiomatosis

PurposeKaposiform lymphangiomatosis (KLA) is a rare, frequently aggressive, systemic disorder of the lymphatic vasculature, occurring primarily in children. Even with multimodal treatments, KLA has a poor prognosis and high mortality rate secondary to coagulopathy, effusions, and systemic involvement. We hypothesized that, as has recently been found for other vascular anomalies, KLA may be caused by somatic mosaic variants affecting vascular development. MethodsWe performed exome sequencing of tumor samples from five individuals with KLA, along with samples from uninvolved control tissue in three of the five. We used digital polymerase chain reaction (dPCR) to validate the exome findings and to screen KLA samples from six other individuals. ResultsWe identified a somatic activating NRAS variant (c.182 A>G, p.Q61R) in lesional tissue from 10/11 individuals, at levels ranging from 1% to 28%, that was absent from the tested control tissues. ConclusionThe activating NRAS p.Q61R variant is a known “hotspot” variant, frequently identified in several types of human cancer, especially melanoma. KLA, therefore, joins a growing group of vascular malformations and tumors caused by somatic activating variants in the RAS/PI3K/mTOR signaling pathways. This discovery will expand treatment options for these high-risk patients as there is potential for use of targeted RAS pathway inhibitors.

Giant cerebral cavernous malformation causing raised intracranial pressure in an adult: Case report and review of literature

Giant cerebral cavernous malformations (GCCMs) are very rare malformations in adults, and they rarely present with raised intracranial pressure due to obstructive hydrocephalus. Around 20 cases of GCCMs have been reported in available literature. We report such a case, discuss and review the available literature regarding this eminently treatable group of vascular malformations.

Imaging spectrum of hemangioma and vascular malformations of the head and neck in children and adolescents.

Vascular lesions of the head and neck region in children constitute an interesting group of lesions that benefit immensely from imaging techniques. Imaging is essential for identification, characterization, and delineation of the extent of lesion and subsequent follow-up. Infantile hemangiomas, which are vascular tumors with a specific evolution pattern, constitute a large majority of these lesions. On the other hand, there are vascular malformations, which are anomalies of the vascular system, consisting of a range of vascular tissues associated with various flow patterns. When diagnosis is clinically evident, imaging should utilize non-radiation techniques and address the issues necessary for management. Timing and interpretation of imaging methods employed in assessing childhood vascular lesion should also take into consideration the natural history so that imaging is performed to address a specific question. This review highlights the typical appearance of a hemangioma and a group of vascular malformations of the head and neck. For descriptive purpose, an attempt has been made to group lesions into specific subsites, with each one having specific clinical significance. Cases included illustrate the spectrum of the disease ranging from classical form in young children to slightly differing manifestations of the disease in adolescents and adults. The illustrations also provide a novel way of presenting image data using volume-rendering techniques of 3D data. Multi-modality team interaction and management strategies of these complex lesions are also emphasized.

Pediatric Vascular Malformations: Pathophysiology, Diagnosis, and the Role of Interventional Radiology

The Mulliken and Glowacki classification (1982) differentiated vascular anomalies into two groups based on their endothelial characteristics: hemangiomas and vascular malformations. Vascular anomalies are localized defects of the vasculature that affect a limited number of vessels in a restricted area of the body. These defects are secondary to errors in vascular morphogenesis. Depending on the type of vessel involved, the vascular malformation group was subdivided into high-flow (such as arteriovenous malformation and arteriovenous fistula) and low-flow lesions (such as venous and lymphatic malformations). Depending on the type of lesion, the location and degree of involvement and the clinical effect, different types of treatment would be required. For the purpose of this review, we concentrate solely on vascular malformations: the clinical features, genetics, diagnosis, and current treatment options.

The expressions of hypoxia inducible factor -1 and angiopoietin -2 in patients with angiodysplasia related gastrointestinal bleeding and treatment with thalidomide

Objective To study the expressions of hypoxia inducible factor (HIF)-1 and angiopoietin (Ang)-2 in repeated gastrointestinal bleeding due to vascular malformation, and the efficacy of treatment with thalidomide. Methods Twenty-five patients with repeated gastrointestinal bleeding due to vascular malformation confirmed by capsule endoscopy or enteroscopy were collected and 18 subjects without severe diseases were served as controls. Ten patients with gastrointestinal vascular malformation, who received 25 mg of thalidomide 4 times daily for 4 months and were followed up for at least one year, were also enrolled. The serum samples from all participauts were detected for expressions of HIF-1 and Ang-2 using enzyme-linked immunosorbent assay (ELISA).The expressions of HIF-1 and Ang-2 were compared between angiodysplasia group and control group.The expressions of HIF-1 and Ang-2 were comparatively evaluated before and after treatment with thalidomide in treatment group. Results The expressions of HIF-1 and Ang-2 in vascular malformation group [( 113. 84 ± 26. 66 ) ng/ml and ( 652. 11 ± 140. 39) ng/ml, respectively] were significantly higher than that of control group [(43.28±17.30) ng/ml and (265.60±53.88) ng/ml,respectively, P=0. 000]. The expression of HIF-1 was positively associated with that of Ang-2. (r=0. 700, P= 0. 000). There was no difference in expressions of HIF-1 and Ang-2 before and after treatment with thalidomide (P=0. 498 and =0. 136, respectively). However, significant reduction of Ang-2 [(113. 80±73. 60) ng/ml(P=0. 003)] was found in 8 effectively treated patients after thalidomide treatment. Conclusions HIF-1 and Ang-2 might play an important role in the formation of vascular malformation. The extent of Ang-2 reduction after thalidomide treatment may be helpful in evaluating its efficacy or prognosis. Key words: Obscure gastrointestinal bleeding; Vascular malformation; Angiodysplasia; Hypoxia inducible factor -1; Angiopoietin-2

Stem cell marker upregulation in normal cutaneous vessels following pulsed‐dye laser exposure and its abrogation by concurrent rapamycin administration: implications for treatment of port‐wine stain birthmarks

Port-wine stains (PWS) represent a group of vascular malformations that are usually accompanied by psychological distress for affected patients, often reflected in high treatment demand. Although the pulsed-dye laser (PDL) was established as standard therapy for PWS more than a decade ago, therapeutic outcome may be unsatisfactory. One of the main drawbacks to successful PDL therapy is PWS revascularization shortly after laser exposure. Therefore, inhibition of revascularization should improve therapeutic outcome of PDL therapy. In this study, we first evaluated the effects of various light energies on normal cutaneous vessels over a period of 14 days, particularly the proliferation and stem cell marker expression of dermal endothelial cells, which were found to be highest 8 days following laser exposure. We found that PDL exposure induced dose-dependent damage of dermal vessels up to energy densities of 6 J/cm(2), above which no increase in PDL-induced effects were observed with the energies employed in this study. In dermal endothelial cells of PDL-exposed skin, we found strong expression of the proliferation marker Ki-67 as well as the stem cell marker nestin but not other stem cell markers such as CD133 and CD166. The influence of rapamycin (RPM), used as an adjuvant to PDL exposure, was also investigated. RPM administration reduced Ki-67 and nestin expression in dermal endothelial cells and increased PDL-induced destruction of dermal vessels, indicating that the use of RPM after PDL exposure may be an interesting new approach for prolonging and improving PWS laser therapeutic outcome.

Complex Combined Vascular Malformations and Vascular Malformation Syndromes Affecting the Extremities in Children

Complex combined vascular malformations affecting extremities are an interesting group of vascular malformations because, in addition to the vascular channel anomalies present, they can be associated with other tissue changes and sometimes altered limb growth. At present, magnetic resonance imaging is the gold standard imaging tool to evaluate such complex conditions in children because of its inherent tissue specificity and vascular capabilities that enables characterization of tissues and the vascular channel anomalies both for diagnosis and management of the patient. A brief review of some of these conditions is presented, including Klippel-Trénaunay syndrome, Parkes Weber syndrome, extensive diffuse low-flow venous malformations, Bannayan-Riley-Ruvalcaba syndrome, cutis marmorata telangiectatica congenita, Maffucci's syndrome, and Gorham-Stout disease.

Pontine cavernous haemangioma – An incidental autopsy finding

Cavernous haemangiomas belong to a group of vascular malformations that are developmental defects of the vascular bed. Occurrence of an asymptomatic cavernoma in the pons is uncommon and worthy of record. At autopsy, cavernomas have to be differentiated from traumatic haemorrhagic lesions in head injury cases. We hereby report a case in which a pontine cavernous haemangioma was detected at autopsy in a 25-year-old female who died due to burn injuries.

Arteriovenous Malformations of the Brain

See related article, pages 878–885. Cerebral arteriovenous malformations (AVM) represent a heterogeneous entity, and a multitude of classifications for this rare disorder exists. Moreover, data on different treatment regimens are controversial.1 In this issue of Stroke , Lasjaunias et al2 present a group of vascular malformations which they consider a distinct entity separate from other brain AVM and classify them as cerebral proliferative angiopathy. Criteria for this classification were predefined almost 20 years ago and included angiomorphological, cross-sectional imaging and in one case also histopathological data. In a large patient cohort of >1400 patients 49 patients (3.4%) were found to meet these criteria. Clinical signs included seizures, headaches and nonhemorrhagic neurological deficits. Angiography demonstrated a diffuse nidus, stenosis of the proximal arteries in almost 40% and a transdural supply in almost 60% of the cases. This angiographic appearance was considered as …

Changing Concept on Vascular Malformation: No Longer Enigma

Old Concept There have been numerous documentations on vascular malformations in the medical literatures for centuries, describing only general/natural appearance of this inborn error.1) But the vast majority were simple reports of anecdotal experiences with limited information on the basis of poor investigational methods then; its complicated nature has never been properly explained and often described as a name-based ‘syndrome’ (e.g. Klippel-Trenaunay Syndrome) to make it look more enigmatic.2, 3) Following the turn of the last century, however, a good many clinicians challenged to such unique condition of the vascular defects seriously in the middle of much confusion to define its nature. But they were only able to catch a glimpse of thousands faces of this birth defect involving various locations of the vascular system in various conditions, extents, and severities. And it was not possible till lately to draw whole picture with a bird's-eye view due to the limited resource and technology. Its extreme variety of clinical appearance and unpredictable behavior in general with a stigma of recurrence gave such notorious reputation to entire group of vascular malformations as an enigma in modern medicine. This once condemned and abandoned disease4) is now newly defined as congenital vascular malformation (CVM) and this new terminology began to clear much confusion on this unique vascular disorder as a universal language replacing many nosologies.

Extracerebral Malformations: Facial AVMs

Between 1996 and 2005 more than 400 patients suffering from vascular malformations and hemangiomas were treated by the Pretoria Vascular Malformation group, a multi disciplinary group consisting of plastic surgeons, pediatric plastic surgeons, pediatric surgeons, maxilla facial surgeons, E.N.T. specialists, interventional radiologists, dermatologists, anaesthetists, diagnostic radiologists, pathologists, psychologists and pediatricians . The direct treatment were mostly done by either plastic or pediatric surgeons or interventional radiologists, in both state hospital and in private practice. Multi disciplinary consensus meetings were held every 3 months, where all cases were discussed prior to and after treatment . A initial prospective audit was done between 1998 and 2001 (with a cohort of 95 patients), of which ±40% had hemangiomas and 60% vascular malformations. Since then more than 200 patients were treated of which 60% were head and neck lesions. The preferred mode of treatment for low flow malformations and heamangiomas was intralesional injections of 1:1 Bleomycin solution, in a sterile theatre and with all patients under general anaesthesia After obtaining a further specialized imaging full clinical history included MR, sonar and CT as well as angiography where necessary . MR was found to be the most useful modality and CT was important where bone involvement was suspected. Sonar was usedul in distinguishing between high and low flow vascular anomalies and angiography was indicated in high flow lesions. The Mulliken and Glowacki classification was used (No1 in No 1). Vascular anomalies

Endovascular Treatment of Brain Arteriovenous Malformations: The Toronto Experience

The University of Toronto Brain VascularMalformation Group keeps a database on allBAVM patients evaluated and treated by thegroup. The data was collected retrospectivelyform 1984 to 1991 and from then prospectively.Currently 973 patients diagnosed with BAVMare registered in the database.All endovascularprocedures were carried out at the TorontoWestern Hospital and The Hospital for SickChildren. Patients with Vein of Galen malfor-mations and cranial dural arteriovenous fistu-las were excluded from this analysis. Two peri-ods were analysed 1984-1993 and 1994-2004.Analyzed data includes demographic informa-tion, clinical presentation, initial neurologicalexamination, technical aspects of the endovas-cular procedure, complications and outcomes.Complications related to embolization weredefined as occurring within one month of theprocedure. The severity of any complicationswas assessed with the Modified Rankin Scale(MRS). The purpose of the embolization wasclassified as an attempt to cure, pre-radiation,pre-operative or palliative treatment.From 1984 to 1994 almost all embolizationprocedures were performed under neuroleptanesthesia. Since 1995, general anesthesia hasbeen routinely employed, and biplane digitalsubtraction angiography has been used since1999.All patients are systemically anticoagulat-

Malformations artérioveineuses intracrâniennes : aspects anatomo-pathologiques

Arteriovenous malformations (AVM) are congenital abnormalities that consist of tangled masses of tortuous arteries, veins and abnormal connecting channels, that apparently result from the lack of development of the local capillary bed. Because of their propensity to bleed, arteriovenous malformations clinically constitute the most significant group of vascular malformations and the most frequent type in surgical specimens. On histologic study, the lesion is composed of arteries with muscular and elastic laminae, veins dilated by the pressure to which they are exposed because of the shunting and ambiguous vessels with both arterial and venous characteristics called arterialized veins. The pathological blood vessels are separated by brain parenchyma that often shows gliosis and hemosiderin pigmentation. The histologic composition of AVM generally permits confident recognition. The pathogenesis of vascular malformations likely involves the abnormal assembly, differentiation of vascular smooth muscle cells in association with dysmorphic vessel wall. AVM exhibit distinct pattern of expression of molecular markers of differentiation and maturity of VSMC as well as vascular endothelial growth factors and their receptors.

Histologically classified venous angiomas of the brain: a controversy.

The term "venous angioma" (VA) usually refers to a developmental venous anomaly (DVA). However, a group of vascular malformations called VAs shows no venous abnormalities on angiography. The clinical and histological features of histologically classified VAs were studied in eight patients who presented with hemorrhage or seizures to reevaluate these venous anomalies. Angiography showed no venous abnormalities in six patients. Histological study included immunostaining for smooth muscle actin and glial fibrillary acidic protein. Surgical specimens of 10 cases of cavernous angiomas, 10 cases of arteriovenous malformations, and two cases of capillary telangiectasias were studied to compare these types of VAs. Angiographically occult VAs were surgically removed safely, whereas removal of DVAs was complicated by brain swelling and hemorrhagic infarction of the brain. Histological examination found angiographically occult VAs contained malformed and compactly arranged vessels with partly degenerated walls, whereas DVAs had dilated thin-walled vessels that were diffusely distributed in the normal white matter. This study of our cases and a review of the reported cases of VAs suggests that two different clinical and pathological entities are commonly categorized as "VA," angiographically occult VAs and DVAs. These two entities should be carefully distinguished.

Extensive pure venous malformations in the upper or lower limb: A review of 27 cases

Background: Extensive pure venous malformations (VMs) involving the entire lower or upper limb and adjacent trunk form a particular group of rare vascular malformations. Objective: Our purpose was to review 27 cases of extensive limb VMs and describe their characteristics and management. Methods: Cases of extensive limb VMs were investigated, treated, and observed for a mean of 7 years. Results: Eleven cases involved the upper limbs and 16 involved the lower limbs. All involved skin and muscle. In 81% of cases in the lower limb there was also knee joint involvement that created severe functional impairment. Ultrasonography with Doppler (duplex scans), computed tomographic scans, and magnetic resonance imaging were helpful noninvasive diagnostic procedures in these patients, whereas arteriography and phlebography were less informative. Muscle involvement was present in 100% of patients and bone abnormalities in 63%. Leg length was either normal or there was slight limb undergrowth, except in three patients who had minor overgrowth of the affected limb. Coagulation profiles demonstrated localized intravascular coagulation in 88% of patients. The majority of patients had conservative management (elastic stockings). In a few, percutaneous sclerotherapy or partial excision of skin and muscle VMs was beneficial. Knee joint involvement required synovectomy and VM excision during childhood in 7 of 16 patients. Conclusion: Extensive limb VMs are characterized by diffuse involvement of the skin, muscle, and joints, and by a specific localized intravascular coagulopathy with general consequences. This group of vascular malformations should be separated from the Klippel-Trenaunay and Parkes Weber syndromes. 1997;36:219-25.

Angioma sacular cerebral del sistema venoso profundo

The authors report a case of a large occipital angioma of saccular type; it was draining directly into the straight sinus; the lesion could be regarded as a so-called aneurysm of the vein of Galen but the authors do not consider the term adequate. The patient was a 13-year-old boy and the condition presented with several reversible episodes of hemiplegia of encephalitic nature: there was also fever and intense meningism but no subarachnoid hemorrhage. These manifestations were suggestive of cerebral anoxia; this was proved by bilateral oximetry of the carotid arteries and jugular veins. Comments are made on the early rise of the proteins in the spinal fluid and the late focal signs in the EEG; the record was nonspecific in the early stages as is usual in other diseases of anoxic origin. The literature on the subject is reviewed. The reason why the term of aneurysm of the vein of Galen is not regarded as appropriate for such cases is that in this syndrome the main cause of the symptoms seems to be a large, paramedial, saccular malformation draining directly into the straight sinus, rather than into the vein of Galen. Other characteristics of this group of vascular malformations appear to be an onset in infancy and an evolution with recurrent bouts of a non-hemorrhagic character.