Clinically aggressive diffuse capillary telangiectasia of the brain stem: a clinical radiologic-pathologic case study.
Capillary malformations or telangiectasias of the brain usually exhibit a benign clinical course, although occassionally they may be associated with mild to moderate symptomatology of uncertain origin. We report a case of an exceptionally aggressive capillary telangiectasia in a child, which was associated with progressive neurologic deterioration resulting in death. (+info)
Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia.
BACKGROUND AND PURPOSE: Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for developing cerebral vascular malformations and pulmonary arteriovenous fistulae. We assessed the risk of neurological dysfunction from these malformations and fistulae. METHODS: Three hundred twenty-one consecutive patients with HHT seen at a single institution over a 20-year period were studied. Any evidence of prior neurological symptoms or presence of an intracranial vascular malformation was recorded. All cases of possible cerebral arteriovenous malformation were confirmed by conventional arteriography. RESULTS: Twelve patients (3.7%) had a history of cerebral vascular malformations. Ten patients had arteriovenous malformations, 1 had a dural arteriovenous fistula, and 1 had a cavernous malformation. Seven patients (2.1%) presented with intracranial hemorrhage, 2 presented with seizures alone, and 3 were discovered incidentally. The average age at the time of symptomatic intracranial hemorrhage was 25.4 years. All patients with a history of intracranial hemorrhage were classified as Rankin grade I or II at a mean follow-up interval of 6.0 years. A history of cerebral infarction or transient ischemic attack was found in 29.6% of patients with HHT and a pulmonary arteriovenous fistula. CONCLUSIONS: The risk of intracranial hemorrhage is low among people with HHT. Furthermore, a majority of these patients have a good functional outcome after hemorrhage. The data do not suggest a compelling indication for routine screening of patients with HHT for asymptomatic cerebral vascular malformations. By comparison, pulmonary arteriovenous fistulae are a much more frequent cause of neurological symptoms in this population. (+info)
Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1.
Truncating mutations in the CCM1 gene encoding KRIT1 were recently found in patients affected by inherited cerebral capillary malformations, lesions that cause a wide variety of neurologic problems. However, CCM1 mutations have not been identified in all the families linked to CCM1. Here we demonstrate that the CCM1 gene contains eight additional exons which may thus encompass the missing mutations. (+info)
Dural arteriovenous fistula in children: endovascular treatment and outcomes in seven cases.
BACKGROUND AND PURPOSE: Dural AVF is a vascular anomaly that rarely occurs in children and is best treated by endovascular embolization. We report our experience using various endovascular embolization techniques in the treatment of dural AVF in a pediatric population. METHODS: Seven children with angiographically proven dural AVF were treated with endovascular embolization using microcoils, N-butylcyanoacrylate, detachable balloons, and/or silk suture. All imaging studies, embolization procedures, and patient charts were retrospectively reviewed. RESULTS: Seven children had been treated for dural AVF at our institution since 1987. Three newborns presented with congestive heart failure. Four older children (10 months-10 years) presented with signs referable to venous hypertension, including seizures, hydrocephalus, and proptosis. Embolization approaches included transarterial, transvenous, and direct puncture after neurosurgical exposure of a dural sinus. The number of embolizations ranged from 1 to 13 sessions per patient. All patients experienced symptomatic improvement after each embolization session. The three newborns showed marked improvement in cardiac function that allowed discharge to home. Clinical follow-up ranged from 3 weeks to 9 years (mean, 4.1 years). Two children with partially embolized dural AVF died, and one was lost to follow-up. Four children are alive after complete embolization of their dural AVF; two are developmentally normal, and two have mild developmental delay. CONCLUSION: Endovascular embolotherapy is the current treatment of choice for dural AVF. Embolization therapy may be life saving in the setting of cardiac failure and curative in cases of small or simple fistulae. Multiple, complex dural AVF are usually not curable, and treatment is aimed at symptomatic relief. Treatment strategies focus on the location and/or complexity of the fistula, the patient's clinical status, and the neurologic prognosis. (+info)
Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations.
OBJECTIVES: Cerebral cavernous malformations are linked to mutations of the KRIT1 gene at the CCM1 locus and to mutations at two other loci, CCM2 and CCM3, for which genes are not yet identified. There is little information regarding the function of KRIT1. Histological and immunocytochemical analysis of cavernous malformations have not shed much light on their pathophysiology. METHODS: Morphological analysis of cavernous malformations was extended to the ultrastructural level by examining lesions from two patients by immunocytochemistry and electron microscopy. RESULTS: The lesions consisted of endothelial lined vascular sinusoids embedded in a collagen matrix. Nuclei belonging to cells distinct from endothelial cells were rare. The basal lamina of the endothelial cells consisted focally of multiple layers. No tight junctions at endothelial cell interfaces were found; however, several examined endothelial cell interfaces demonstrated apparent gaps between endothelial cell processes where basal lamina was exposed directly to the lumen of the sinusoids. Heavy hemosiderin deposits were found underlying the vascular channels within microns of the basal lamina without evidence of disrupted vessels. No astrocytic foot processes were seen within lesions. Glial fibrillary acidic protein immunocytochemistry confirmed that astrocyte processes stopped at the border of the lesions. CONCLUSIONS: The absence of blood-brain barrier components may lead to leakage of red blood cells into these lesions and the surrounding brain in the absence of major haemorrhage, thus accounting for the propensity of cavernous malformations to cause seizures. These data also raise the possibility that KRIT1 plays a part in the formation of endothelial cell junctions and expression of a mature vascular phenotype. (+info)
MR imaging and histologic features of capillary telangiectasia of the basal ganglia.
Capillary telangiectasias are being recognized with increasing frequency on MR imaging studies. Most are located in the brain stem and show slightly increased signal intensity on T2-weighted images, low signal intensity on T2*-weighted images (reflecting the presence of deoxyhemoglobin), and contrast enhancement. These findings are considered fairly typical for capillary telangiectasia, and pathologic correlation is not generally pursued. We present a case of a proven capillary telangiectasia in the basal ganglia. The imaging features of the lesion were identical to those described for capillary telangiectasias in the brain stem. (+info)
BACKGROUND: Spinal dural arteriovenous fistulae comprise the majority of spinal vascular malformations. The most common clinical presentation is that of progressive myeloradiculopathy, probably related to venous hypertension, which may lead to permanent disability and even death. OBJECTIVE: To report our clinical experience with spinal dural arteriovenous fistulae. METHODS: Nine patients with spinal dural AVF were managed at our center during a one year period (1998-1999). The patients, eight men and one woman ranging in age from 46 to 75 years, presented with initially fluctuating and eventually permanent and progressive paraparesis, sensory disturbances and sphincter dysfunction. The neurological signs generally began symmetrically and progressed from the distal to proximal limb regions. The duration of symptoms before diagnosis ranged from 6 to 36 months during which the patients underwent an extensive but fruitless work-up and even unnecessary operations due to misdiagnosis. All patients finally underwent magnetic resonance imaging and spinal angiography, which demonstrated the pathological vascular fistula. Interruption of the AVF was achieved by embolization or by surgical resection. RESULTS: Following treatment, six patients experienced improvement of gait and sphincter control, and the severe neurological deficits stabilized in the other three patients with long duration of illness. There was no further deterioration in any of the treated patients. CONCLUSIONS: The history, neurological findings and radiological changes on MRI scan should alert clinicians to the possibility of spinal dural AVF, leading to diagnostic spinal angiography. Early diagnosis and treatment may significantly improve outcome and prevent permanent disability and even mortality. (+info)
Dural arteriovenous fistulae: noninvasive diagnosis with dynamic MR digital subtraction angiography.
MR digital subtraction angiography (DSA) is a new diagnostic tool capable of producing dynamic images of the cerebral circulation with the injection of gadopentetate dimeglumine into a peripheral vein. Previous reports have concentrated on its potential as a noninvasive technique for the study of pial arteriovenous malformations. In this report, we present our early findings with MR DSA in the evaluation of intracranial dural arteriovenous fistulae. (+info)