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The authors report the coexistence of vascular nevi (hemangiomas and arteriovenous malformations (AVMs) of the skin) with AVMs and venous malformations of the brain in male siblings from two related but nonconsanguineous families of three generations. The proband, his siblings, parents, aunts, uncles, and cousins were examined, underwent magnetic resonance (MR) imaging and MR angiography, and when appropriate, cerebral angiography. A father had vascular nevi and a mother, his sister, had an azygos anterior cerebral artery. No other cutaneous or cerebrovascular malformations were present in the parents. Each of the two families had two boys and one girl, 9 to 18 years of age. All the children had vascular nevi and all of the boys had coexisting cerebrovascular malformations: AVMs in three, and a venous malformation in another. One boy had three cerebral AVMs. Two boys had a cerebral hemorrhage, and one also had focal motor seizures. The skin lesions were not those of the Sturge-Weber-Dimitri, Rendu-Osler-Weber, or Wybum-Mason syndromes. The association of cutaneous and cerebrovascular malformations was seen only in males in these families. but females have also been reported in the literature. The results obtained in these families and three other families reported from Western and Central Europe indicate that the association of cerebral and cutaneous vascular hamartomas constitutes a distinct, hereditary clinicopathological entity with autosomal dominant inheritance and variable penetrance. The clinical manifestations of this syndrome are visible, painful vascular nevi, epilepsy, cerebral hemorrhage, and focal neurological deficits. The preponderance of male patients with the full expression of the syndrome suggests a possible hormonal influence on the expression of the gene.

The authors assessed the potential role of transcranial Doppler ultrasonography (US) in monitoring hemodynamic changes induced by embolization of cerebral arteriovenous malformations. Transcranial Doppler US was performed in eight patients with such lesions before and after embolization with n-butyl cyanoacrylate [corrected]. Changes in mean flow velocity and pulsatility index were analysed in all feeding and nonfeeding arteries. Anatomic and hemodynamic observations were also correlated with the results of digital subtraction angiography. A consistent trend was observed in all treated feeding arteries after embolization: the flow velocity decreased by a mean of 26% or 33 cm/s (p = 0.01, paired t-test), and the pulsatility index increased by a mean of 27% or 0.15 (p = 0.005). Although these changes did not correlate with the degree of angiographic reduction of the nidus (r = -0.31), they were most marked in malformations with a lower Spetzler grade or a higher degree of shunt obliteration. After embolization, recruitment of untreated feeding arteries was documented in two cases and a decrease in the "steal effect" from contralateral nonfeeding arteries in three. Changes in the nonfeeding arteries ipsilateral and contralateral to the malformation were variable. The authors conclude that transcranial Doppler US is a convenient and reliable method to evaluate quantitatively the hemodynamic effects of embolization of cerebral arteriovenous malformations.

We report the first instance of the use of 3-dimensional magnetic resonance imaging anatomically correlated to positron emission tomography (PET) scanning to identify language areas in a patient with an arteriovenous malformation (AVM) in the posterior speech region. The patient was a 24-year-old right-handed woman with an angiographically proven AVM (3-4 cm) in the left mid-posterior second temporal convolution in whom a left intracarotid injection of sodium Amytal produced significant language disruption. A baseline PET cerebral blood flow study identified the AVM, and an activation PET scan performed during the reading and speaking of simple words showed increased activity in the left parastriate cortex (the second visual area), in the left posterior third frontal convolution (Broca's area), and in the left inferior and midtemporal gyri (Wernicke's area). Increased activity was also noted in the right and left transverse temporal (Heschl's) gyri, in the left precentral gyrus, in the left medial superior frontal gyrus (the supplementary motor area), and in the right cerebellum. We conclude that activation PET scanning is useful in the preoperative assessment of patients who harbor cerebral AVMs in classically described speech regions.

A case is presented which represents the first instance of the use of functional positron emission tomography (PET) scanning to precisely localize a structural brain lesion to the precentral gyrus, and the first validation of functional PET scanning by intraoperative cortical mapping. The lesion was a 3-cm arteriovenous malformation (AVM) that had produced a generalized seizure in an otherwise asymptomatic young woman. A first, resting H2(15)O PET scan identified the AVM. A second PET scan, performed during vibrotactile stimulation of the contralateral hand, identified the somatosensory area of the hand region and localized the AVM to that part of the precentral gyrus immediately in front of it. This relationship and localization were confirmed by cortical mapping at the time of craniotomy under local anesthesia. Functional PET scanning may prove to be useful to localize cortical lesions precisely and to help in determining preoperatively the best form of treatment for lesions, especially AVM's, in functionally important cortex.

Twenty-seven patients with epilepsy as the only manifestation of a cerebral AVM were seen at the MNI/MNH from 1973 to 1981. The nine females and eighteen males between the ages of fourteen and fifty-four years (mean 25.2 years) had epilepsy for an average of 3.5 years prior to the diagnosis of AVM. Seven patients had primarily generalized seizures, ten patients had partial seizures with complex symptoms, fourteen patients had partial seizures with elementary symptoms, and thirteen patients had secondarily generalized seizures. Although there was no history of intracranial hemorrhage, seven patients had negative hemispheric signs (hemiatrophy, hemianopia, dysphasia, hemiparesis), two had impaired mentation, and two were ataxic. The EEG, normal in ten cases,showed non-epileptiform activity in six cases, and focal epileptiform activity in eleven cases. Angiographic and/or histological examination revealed eight small (less than 2 cm in diameter) and nineteen large lesions. Fifteen AVMs involved the frontal lobe, ten the temporal lobe five the parietal lobe, and one the occipital lobe. Angiography failed to demonstrate three frontal and three temporal AVMs. Plain CT scanning demonstrated a high or low density lesion without a mass effect in sixteen cases, enlargement of the ipsilateral ventricle or Sylvian fissure in seven cases, and diffuse ventricular enlargement in three cases. CT scanning was performed after the intravenous injection of contrast material in nineteen cases and demonstrated vascular enhancement in fifteen cases and an abnormal blood vessel in six cases. Two angiographically occult AVMs demonstrated vascular enhancement with infusion CT scanning, thereby demonstrating the vascular nature of the lesion where angiography had failed to do so.

Seventeen patients with an intracranial arteriovenous malformation were studied with positron emission tomography. Cerebral blood flow, cerebral blood volume, oxygen extraction fraction, and glucose and oxygen metabolism were evaluated in both hemispheres, excluding the area of the malformation itself. Patients were divided into three groups according to the size of their malformation, and results obtained were compared with studies in healthy volunteers. The glucose metabolism was significantly (p less than 0.01) decreased in the ipsilateral hemisphere in all patients. The cerebral blood volume was significantly increased (p less than 0.001) ipsilaterally in the three groups, and contralaterally in patients with medium- and large-sized arteriovenous malformations. The cerebral blood volume to cerebral blood flow ration, an index of vascular mean transit time, was significantly increased (p less than 0.005) ipsilaterally in patients with medium- and large-sized malformations and contralaterally in patients with large ones. Cerebral blood flow, oxygen extraction fraction, and oxygen metabolism were within the normal range bilaterally in all three groups, but oxygen extraction fraction tended to be higher in patients with larger lesions. The lack of significant change in oxygen metabolism suggests that oxygen metabolism in cortical areas remote from the arteriovenous malformation has been maintained by compensatory hemodynamic mechanisms. These data reveal widespread metabolic and hemodynamic consequences of arteriovenous malformations and suggest that they are associated with impairment of glucose metabolism, both in ipsilateral regions remote from the lesion and in the contralateral hemisphere in patients with large lesions.

Computerized tomography (CT) scans of 54 patients with an arteriovenous malformation (AVM) of the brain were reviewed. The 31 males and 23 females (mean age: 33 years) were classified according to clinical presentation: 1) intracranial hemorrhage (30 patients); 2) seizure disorder (19 patients); and 3) other neurological disturbance (five patients). A brain hematoma was identified in all of the patients in the hemorrhage group have a CT scan within 1 week of the bleed. Extension of hemorrhage into the ventricular system as seen in eight cases was invariably accompanied by severe neurological dysfunction. A high-density lesion without associated mass effect was found in 48% of patients presenting with a seizure disorder. Dilatation of the ipsilateral lateral ventricle, a common finding in this group of patients, was thought to indicate an atrophic process. Evidence of discrete brain infarction was unusual. Intravenous infusion with Hypaque provided additional information in 31 of the 35 patients so studied. Demonstration of prominent or enlarged feeding arteries and/or draining veins occurred in 20% of patients with large malformations. Six cases of angiographically occult AVM's were found. A correlation of the CT scan with clinical, angiographic, and histological findings is presented.

Eight patients with a histologically proven angiographically occult arteriovenous malformation of the brain had plain and infused computed tomographic (CT) examinations. In five cases angiography revealed a hypovascular mass in three cases the angiogram was normal. On CT examination a high density lesion (six cases) and ventricular asymmetry (five cases) were demonstrated. In three patients presenting with intracerebral hemorrhage, the high density appearance and ventricular compression were accounted for by the presence of hematoma. In three of five seizure patients the high density lesion was associated with calcification while ipsilateral (one case) and contralateral (one case) enlargement of the lateral ventricle was seen. In five of the eight cases the vascular nature of the lesion was suggested by vascular enhancement of the infused CT scan. Glioma was a common misdiagnosis.

Magnetic resonance imaging (MRI) was performed in 15 patients with small to very large supratentorial arteriovenous malformations (AVMs). Unlike non-contrast infused computed tomographic (CT) scanning, MRI demonstrated the AVM in all cases. The nidus had a characteristic honeycomb appearance, and in all cases feeding arteries and deep or superficial draining veins were demonstrated without intervening bone artifact. The relationship of the AVM to surrounding cortical areas, deep nuclei, important white matter tracts, and the ventricular system was well appreciated. These characteristics make MRI useful for the diagnosis of cerebral AVMs and add to the accuracy of systems that grade operability on the basis of the angiographic demonstration of size, location, depth, arterial supply, and venous drainage. In many cases, based on the MRI appearance of the AVM and its relationship to important brain structures, the lesion can be deemed inoperable or unsuitable for other forms of treatment, making angiography unnecessary. Thus, the superior anatomical and morphological resolution of MRI, the lower false-negative rate, and the independence from x-ray and contrast material make MRI more useful than CT scanning for the diagnosis of AVMs and as an aid in the management of specific cases.