Vascular anomalies consist of tumours or malformations made up of abnormal growth or collections of blood vessels that can result in functional or cosmetic problems. While many vascular anomalies are present at birth, some do not appear until later in life, making diagnosis more challenging. Although many vascular anomalies are benign, some are associated with serious complications and may involve multiple organ systems. This article highlights the important features of clinically significant vascular anomalies to help physicians promptly identify and refer these cases to a specialised multidisciplinary team for evaluation and management. The discussion includes the various presenting complaints of vascular anomalies in children, namely, rapidly growing birthmarks, painful lesions, seizures/neurological manifestations, bleeding diathesis, cardiac/airway abnormalities and part of an overgrowth syndrome.
Infant, Newborn ; Child ; Humans ; Vascular Malformations/pathology* ; Vascular Diseases ; Syndrome

In order to obtain more accurate pathological diagosis of the angiographically occult vascular malformations(AOVM) of the brain in the future and to examine the clinical, and radiological characteristics and management outcome of the AOVM, the authors retrospectively reviewed the 30 cases of AOVM in which patients were treated at our instituition during the past 11-year period. The pathological specimens were reexamined, and the lesions were reclassified according to the strict histopathological criteria. The clinical characteristics, radiological features, the difference between the clinical and pathological diagnosis and the management results were studied. There were 15 males and 15 females. The mean age at the time of diagnosis was 31 years, ranging from 3 months to 74 years. The clinical diagnosis were arteriovenous malformation(AVM) in 18 cases, cavernous angioma in 11 and mixed lesion in 1. The pathologic diagnosis was AVM in 14 cases, cavernous angioma in 2, and unclassified lesion in 12. The common presenting symptoms were hemorrhage(53.3%), seizure(20.0%) and mass lesions(20.0%). Twenty four lesions were located at the supratentorial region, 4 at cerebellum and 2 at pons. Most of the lesions were revealed as high density masses with minimal or no contrast enhancement on CT and a core of mixed signal intensity with a peripheral low signal intensity rim on T2-weight MRI. Preoperative clinically significant recurrent hemorrhages were noted in 8 cases and one of them showed marked deterioration of the neurological functions a result of recurrent hemorrhage. Twenty-eight patients underwent surgery and all except one improved neurologically. Six patients initially presented with seizure showed improvement in seizure frequency after operation. One patient who had the lesion at the pons was managed by a radiosurgery and one patient who refused surgery was managed by a conservative method. The conservatively managed patient and another patient who was not found AVM at the hematoma cavity during initial operation rebled about 2 years later following diagnosis and surgery. Thse findings suggest that the complete microsurgical excision, which prevents rebleeding and suppresses seizure activity, represents the treatment of choice for patients with clinically symptomatic AOVM. Avoiding the injury of the vascular mass, obtaining sufficient biopsy specimen during surgery, together with careful histopathological observation of operative specimens through complete clinical-radiological-pathological context are necessary to obtain more accurate pathological diagnosis.
Arteriovenous Malformations ; Biopsy ; Brain ; Cerebellum ; Diagnosis ; Female ; Hemangioma, Cavernous ; Hematoma ; Hemorrhage ; Humans ; Magnetic Resonance Imaging ; Male ; Pathology ; Pons ; Radiosurgery ; Retrospective Studies ; Seizures ; Vascular Malformations*

Clinical, EEG and MRI assessments were conducted in 320 consecutive seizure patients referred to the Yonsei Epilepsy Clinic from october 1, 1991 to Feburary 28. 1993 Clinical assessment suggested that 91.9% of our patients had partial seizures and only 3.1% had generalized seizures. Among partial seizures. Temporal lobe seizure uas considered in 37.5%, localization undetermined partial seizure in 29.7%, extratemporal lobe seizure in 24.7%. Correlation with EEG findings in these patients showed disconcordance rate of 34.6% in generalized seizure, 29.1% in extratemporal lobe seizure, 15.8% in temporal lobe seizure, 5.3% in localization undetermined partial seizure. Structural lesions in MRI were found in 51.6% with hippocampal atrophy being the most frequently round(59.4%). Focal encephalomalacia comprised 15.8%, focal atrophy in 4.8*/o. vascular malformation in 4.2%, granuloma in 3.7%, tumor in 3.7%, cyst in 2.4%. Patients with clinically judged temporal lobe seizure had the most common structural lesions in MRI. Which were seen in 59.2%. Extratemporal lobe seizure had focal lesion in 50.6%. Localization undetermined partial seizure in 50.5%, and generalized seizure in 23.1%. Among 98 patients with hippocampal atrophy, 27 patients(27.6%) had dual pathology with focal encephalomalacia being the most common. 11 patients(11.3%) were suspected to have bilateral hippocampal atrophy. Hippocampal atrophy was more commonly seen in patients with history of febrile convulsion and in patients with severe seizure.
Atrophy ; Electroencephalography* ; Encephalomalacia ; Epilepsy ; Granuloma ; Humans ; Magnetic Resonance Imaging* ; Pathology ; Seizures* ; Seizures, Febrile ; Temporal Lobe ; Vascular Malformations

Cerebral cavernous angioma is a rare form of vascular malformations which is histologically composed of closely-packed, thin-walled blood vessels without neural tissue intervened. One of the most common symptoms is seizure, which is usually well-controlled by medication or surgery and known to be rarely intractable or fatal. Because sudden, unexpected death in epilepsy patients reveals generally its unclear death mechanism and negative autopsy finding in forensic pathology practice, particular attention should be paid. We recently experienced an autopsy case of 32-year-old woman who had suffered from epilepsy and showed cerebral cavernous angioma on autopsy. We report this case with literature review.
Adult ; Autopsy ; Blood Vessels ; Caves ; Central Nervous System ; Epilepsy ; Female ; Forensic Pathology ; Hemangioma ; Hemangioma, Cavernous ; Humans ; Seizures ; Vascular Malformations

PURPOSE: To compare the diagnostic value of electroencephalography (EEG), MRI and PET studies and surgical outcome in patients with medically refractory temporal lobe epilepsy due to hippocampal sclerosis (HS) versus temporal lobe lesions (TLL). METHODS: Records of 122 consecutive patients who underwent surgery for epilepsy from January 1993 to April 2000 were retrieved from the MGH Epilepsy Surgery Database. Fifty eight patients with temporal lobe epilepsy due to pathologically proven HS or TLL were identified and presurgical interictal and ictal EEG, MRI, and 2-[(18)F]fluoro-2-deoxy-D-glucose (FDG)-PET data and surgical outcome were reviewed. Patients with dual or normal pathology were excluded. Pathologically proven HS was present in 32 patients, and 26 patients has temporal lobe lesions (cortical dysplasia in 6 patients, vascular malformation in 6, gliomas in 5, DNET in 4, heterotopia in 1, other pathologies in 4). Comparisons of the diagnostic value of EEG, MRI and FDG-PET studies were performed in 43 patients who were seizure-free after epilepsy surgery. Among 43 patients, HS was in 24 patients and TLL in 19. RESULTS: The occurrence of abnormal interictal and ictal EEG, MRI and FDG-PET findings in the side of operation was not significantly different between patients with HS and with TLL respectively. There was no significant difference in at least one year follow-up surgical outcome between the two groups. CONCLUSIONS: Diagnostic value of presurgical interictal and ictal EEG, MRI and FDG-PET findings, and surgical outcome were not different in patients with mesial versus neocortical temporal lobe epilepsies.
Electroencephalography* ; Epilepsy ; Epilepsy, Temporal Lobe* ; Follow-Up Studies ; Glioma ; Humans ; Magnetic Resonance Imaging ; Neuroimaging* ; Pathology ; Sclerosis ; Temporal Lobe* ; Vascular Malformations

Cerebral Hemorrhage ; pathology ; physiopathology ; Child ; Child, Preschool ; Female ; Heart Defects, Congenital ; pathology ; physiopathology ; Hemodynamics ; physiology ; Humans ; Infant ; Male ; Risk Factors ; Stroke ; pathology ; physiopathology ; Vascular Malformations ; pathology ; physiopathology

OBJECTIVETo investigate the expression and role of glucose transporter-1 (Glut1) in infantile hemangioma.

METHODSFifty-two samples from infantile hemangioma, 25 in cavernous venous malformation, 9 in arteriovenous malformation, 2 in capillary malformation and 5 in normal skin samples were involved in this study. The EnVision immunohistochemical stain was used to investigate the expression of Glut1 protein in these samples.

RESULTSIn the early proliferating stage, a number of endothelial cells expressed Glut1. In the middle proliferating stage, most of vascular endothelial cells and scattered endothelial cells expressed Glut1. In the late proliferating stage, the expression of Glut1 decreased quickly. In the involuting stage, all hemangioma samples didn't express Glut1. All of the samples from the cavernous venous malformations, arteriovenous malformations, capillary malformations and normal skin had no expression of Glut1.

CONCLUSIONSGlut1 may be one of the phenotypes of infantile hemangioma endothelial cells in their development, rather than the inherent character. The expression of Glut1 changes according to the metabolic need of infantile hemangioma cells.

Blood Vessels ; Child ; Child, Preschool ; Endothelium, Vascular ; metabolism ; Glucose Transporter Type 1 ; metabolism ; Hemangioma ; metabolism ; Humans ; Infant ; Phenotype ; Vascular Malformations ; metabolism ; pathology

INTRODUCTIONHaemangiomas in children usually involute spontaneously and surgical treatment is exceptional. Vascular malformations do not regress spontaneously and resection may become necessary. We present a series of surgically treated face and neck vascular anomalies during a 9-year period, assessing the epidemiology, presenting signs and symptoms, diagnostic modalities, indications for surgery, treatment methods and clinical outcome post-treatment.

MATERIALS AND METHODSThe medical and pathological records of all patients with cervicofacial vascular anomalies treated surgically at our department from 1997 to 2005 were retrospectively reviewed in relation to current evidence.

RESULTSForty-one patients were identified. Of these, 9 patients had haemangiomas and the remaining 32 had a variety of vascular malformations. Cervicofacial vascular anomalies were most commonly located at the lip. Atypical looking vascular anomalies like masseteric intramuscular haemangiomas and parotid malformations were diagnostic problems. All 41 had surgical excision of their vascular anomalies for troubling symptoms, cosmesis or diagnostic purpose. For cervicofacial arteriovenous malformations, 28% were classified as Schobinger stage I, 50% stage II, and the remainder stage III. Combined embolisation-resection was used to treat 6 arteriovenous malformations (stage II to III) and of these, 3 required flap reconstruction.

CONCLUSIONSAccurate diagnosis distinguishing between cervicofacial haemangiomas and vascular malformations is key to best treatment. The diagnosis can usually be made by history and physical examination aided by early magnetic resonance imaging (MRI). Although cervicofacial haemangiomas can be managed conservatively or with medical therapy, surgery is indicated for preventing psychological distress and in cases of chronic aesthetic alteration resulting from partial regression. Aesthetic concerns and prevention of psychosocial distress point to early excision of venous malformation as the treatment of choice. Lymphatic malformations are best treated by excision. Outcome after excision of localised cervicofacial haemangiomas and low-flow vascular malformations is excellent. Large extensive low-flow malformations as well as those located at the lips may require multiple procedures including reconstruction; patients should be informed that the outcome is generally not as good. Combined embolisation-resection is definitive treatment for arteriovenous malformations and flap reconstruction may prevent their recurrence. Tissue expansion is a useful reconstructive tool after the excision of large vascular anomalies.

Adolescent ; Adult ; Arteriovenous Malformations ; diagnosis ; pathology ; surgery ; Child ; Child, Preschool ; Diagnosis, Differential ; Face ; blood supply ; Female ; Hemangioma ; diagnosis ; pathology ; surgery ; Humans ; Male ; Middle Aged ; Neck ; blood supply ; Vascular Malformations ; diagnosis ; pathology ; surgery

OBJECTIVETo detect the expression of TRAIL protein and mRNA in hemangiomas and vascular malformations.

METHODSSections of 33 proliferative hemangiomas,28 involuting hemangiomas and 29 vascular malformations were immunostained for TRAIL protein, TRAIL mRNA was examined by in situ hybridization in these tissue.

RESULTSThe TRAIL protein positive rates in proliferative hemangiomas, involuting hemangiomas, vascular malformations and normal skins were respectively 45.45% (15/33), 78.57% (22/28), 0% and 0%. There were significant differences among the four pathologies (P < 0.01). The difference between proliferative hemangiomas and involuting hemangiomas was also significant (P < 0.01). The TRAIL mRNA positive rates were 66.67% (11/33), 89.29 (25/28), 0% and 0% respectively. There were also significant differences among the four pathologies (P < 0.01). The difference between proliferative hemangiomas and involuting hemangiomas was also significant (P < 0.01).

CONCLUSIONSTRAIL could induce endothelial apoptosis and cause regression of hemangiomas.

Apoptosis ; Female ; Hemangioma ; metabolism ; pathology ; Humans ; In Situ Hybridization ; Infant, Newborn ; Male ; Microcirculation ; RNA, Messenger ; genetics ; TNF-Related Apoptosis-Inducing Ligand ; genetics ; metabolism ; Vascular Malformations ; metabolism ; pathology

OBJECTIVETo investigate the expression and significance of CD133, Glut-1 and precursor cell, placental microvessel endothelial cells in the occurrence, development and regression of infantile hemangiomas.

METHODSWe examined the expression and significance of CD133, Glut-1 in the occurrence, development and regression of infantile hemangiomas and congenital vascular malformation postnatal vascular malformation using immunohistochemical technique. An image analysis system (Image-pro plus 5.0) was used to measure the average integrated optical density and the rate of positive area of CD133 and Glut-i in different stages of hemangiomas and in vascular malformation.

RESULTSThe expression of CD133 was significantly higher in differential stages congenital hemangioma, congenital vascular malformation, placenta chorionic villi than postnatal vascular malformation (P < 0.05). About the expression of Glut-1, there was difference between proliferating hemangiomas, placenta and degenerating hemangiomas, vascular malformation (P < 0.05).

CONCLUSIONThe precursor cells marked CD133 is the source of endothelial cells derived from congenital hemangiomas and congenital vascular malformation.

AC133 Antigen ; Antigens, CD ; metabolism ; Glucose Transporter Type 1 ; metabolism ; Glycoproteins ; metabolism ; Hemangioma ; metabolism ; pathology ; Humans ; Peptides ; metabolism ; Vascular Malformations ; metabolism ; pathology