1/11. Giant spinal perimedullary fistula in hereditary haemorrhagic telangiectasia: diagnosis, endovascular treatment and review of the literature.Hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber disease) is a vascular disorder with dominant autosomal transmission characterised usually by multiple mucocutaneous and visceral abnormalities. Neurological manifestations due to the primary involvement of spinal cord by vascular malformations are rare. We present a young man with HHT associated with a central nervous system arteriovenous malformation and a giant perimedullary fistula, that was manifested as progressive myelopathy. The diagnosis was made coupling magnetic resonance imaging to selective spinal arteriography. The therapeutic option was endovascular treatment by mechanically detachable coils which resulted in full exclusion of the fistula with full improvement of symptoms. During follow-up a stable clinical and morphological outcome was achieved. Clinical manifestations in HHT, with emphasis on neurological symptoms, are reviewed as well as the therapeutic options to deal with giant perimedullary fistula.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/11. Central nervous system lesions associated with hereditary hemorrhagic telangiectasia--three case reports.Hereditary hemorrhagic telangiectasia (HHT) is easily overlooked in patients with central nervous system (CNS) lesions. Our clinical experience of three patients with CNS lesions associated with HHT stresses the importance of considering HHT. A 23-year-old male presented with consciousness disturbance and right hemiparesis. Emergency cerebral digital subtraction angiography revealed occlusion of the left middle cerebral artery and the left anterior cerebral artery. Pulmonary arteriography showed three pulmonary arteriovenous malformations (AVMs). A 62-year-old male presented with consciousness disturbance and sensory aphasia. magnetic resonance imaging revealed a ring-enhanced lesion in the left temporal lobe which was removed by left frontotemporal craniotomy. The diagnosis was brain abscess. Chest computed tomography (CT) revealed two pulmonary AVMs. A 32-year-old female presented with progressive mild weakness in her left hand. Initial CT showed subcortical hemorrhage in the right frontal lobe. cerebral angiography revealed no vascular malformations, but chest CT disclosed five pulmonary AVMs. All three patients had a family history of HHT. The possibility of HHT is important to consider in patients with cerebrovascular disease (CVD) or brain abscess to prevent complications, not only in the patients but also their blood relatives. Therefore, the medical and family history of patients with CVD or brain abscess should be investigated and HHT should be considered during the physical examination.- - - - - - - - - - ranking = 1.9414936783147keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/11. Endovascular treatment of spinal arteriovenous fistula in a young child with hereditary hemorrhagic telangiectasia. Case report.Hereditary hemorrhagic telangiectasia ([HHT] or Osler-Weber-Rendu syndrome) can manifest as sudden onset of epistaxis or neurological deficit in a child with characteristic mucocutaneous telangiectasias or as an asymptomatic bruit with or without overlying cutaneous vascular lesions. The authors present a case study of a pediatric patient with HHT in whom a screening computerized tomography (CT) scan of the chest revealed an asymptomatic arteriovenous malformation (AVM) of the spine. An 18-month-old child with a strong family history of HHT, including fatal central nervous system (CNS) hemorrhage and pulmonary AVMs, presented with a cutaneous telangiectasia of the pinna. The child was subsequently screened for potentially morbid pulmonary and CNS AVMs by using chest CT scanning and brain magnetic resonance (MR) imaging. A spinal MR image revealed a perimedullary macro-AVF (MAVF) resulting in a large venous varix within the parenchyma of the thoracic spinal cord. A transarterial embolization of the fistula was performed using N-butyl cyanoacrylate and ethiodol. Postembolization angiography confirmed obliteration of the fistula, and MR imaging revealed thrombosis and reduction in size of the venous varix. There were no neurological sequelae due to the treatment. In families with HHT and a high risk of sudden severe morbidity or death from undisclosed pulmonary or CNS AVMs, screening chest CT scanning and CNS MR imaging should be considered. Interdisciplinary teams of neurosurgery and interventional radiology specialists should evaluate and treat such patients by using diagnostic and therapeutic angiography and, if necessary, surgery.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/11. macrocephaly in association with unusual cutaneous angiomatosis.Ten patients are presented who demonstrate a newly recognized association of macrocephaly with unusual angiomatosis and limb asymmetry in three somewhat similar cutaneous vascular disorders: klippel-trenaunay-weber syndrome, the combination of Sturge-Weber anomaly with klippel-trenaunay-weber syndrome, and cutis marmorata telangiectatica congenita. The etiology of the macrocephaly in patients with these conditions is unknown. The majority (seven of ten) of these children have no evidence of central nervous system dysfunction.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/11. Identical twins with hereditary hemorrhagic telangiectasia concordant for cerebrovascular arteriovenous malformations.Central nervous system arteriovenous malformations are uncommon in hereditary hemorrhagic telangiectasia. Identical twins are described with hereditary hemorrhagic telangiectasia and concordance for central nervous system arteriovenous malformations identified by angiography. One twin had a central nervous system hemorrhage in the seventh month of pregnancy and also had a pulmonary arteriovenous malformation. The other was asymptomatic. A previously reported association between HLA type A2 BW17 and hereditary hemorrhagic telangiectasia was not confirmed. Two recombinations were identified between the loci for HLA and hereditary hemorrhagic telangiectasia. The loci for HLA and hereditary hemorrhagic telangiectasia are not closely linked. stroke in a young person should prompt an inspection for manifestations of hereditary hemorrhagic telangiectasia.- - - - - - - - - - ranking = 2.2353734195787keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/11. Central nervous system arteriovenous malformations in multiple generations of a family with hereditary hemorrhagic telangiectasia.Hereditary hemorrhagic telangiectasia is described in four generations of a kinship. The family is unique in that three generations manifest central nervous system vascular disease, which was pathologically confirmed in two generations. genetic linkage was not identified for 32 genetic markers studied. The literature is reviewed for patients with central nervous system arteriovenous malformations and hereditary hemorrhagic telangiectasia. The pathogenesis of the disease is discussed, and therapeutic modalities are considered.- - - - - - - - - - ranking = 1.9414936783147keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/11. central nervous system infections associated with hereditary hemorrhagic telangiectasia.The clinical courses of 31 episodes of brain abscess and one episode of meningitis occurring in patients with hereditary hemorrhagic telangiectasia are reviewed. Pulmonary arteriovenous malformations were demonstrable in all but two patients and presumably permitted septic microemboli to evade the normal pulmonary capillary filter and lodge in the brain. Obtundation, headache, visual disturbances, hemiplegia, and seizures were the most common presenting features. cyanosis, clubbing, polycythemia, and hypoxemia were routinely encountered, but leukocytosis and fever were present in a minority of cases, and all blood cultures were sterile. Anaerobic and microaerophilic streptococci were the commonest pathogens found in the brain abscesses. Thirteen patients died, and patients without abscess drainage or with delayed diagnosis had a higher mortality rate. A brain abscess may develop in approximately 1 percent of patients with hereditary hemorrhagic telangiectasia, and awareness of this risk should lead to early investigation of any patient with hereditary hemorrhagic telangiectasia who has neurologic symptoms.- - - - - - - - - - ranking = 0.94149367831466keywords = nervous system (Clic here for more details about this article) |
8/11. CNS manifestations of hereditary hemorrhagic telangiectasia.Hereditary hemorrhagic telangiectasia (HHT) is a familial angiodysplastic disorder. Dermal, mucosal, and visceral vascular lesions of this disorder are well known. However, central nervous system (CNS) manifestations, occurring in as many as one-third of patients, have not been well appreciated until recently. The etiology of neurologic symptomatology includes hypoxemia or ischemia secondary to pulmonary arteriovenous shunting, vascular lesions of the brain and spinal cord ranging from aneurysms to arteriovenous malformations, brain abscesses secondary to pulmonary arteriovenous fistulas, and portal systemic encephalopathy. Angiographic and computed tomographic findings in four patients with CNS involvement in HHT are reported.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/11. Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of 2 cases and review of the literature.Two cases of hereditary hemorrhagic telangiectasia (HHT) with neurological involvement are presented. One patient had multiple vascular malformations including telangiectasias of the brain, medulla, and spinal cord and a berry aneurysm of the internal carotid artery; she also had a large cerebellar abscess, presumably reflecting the presence of a pulmonary arteriovenous fistula. The second patient had an idiopathic subarachnoid hemorrhage. In more than 200 reported patients with HHT involving the nervous system, 61% had lesions seondary to a pulmonary arteriovenous fistula (cerebral hypoxemia, paradoxical and septic emboli, and brain abscess). The findings emphasize the need for early surgical correction of such fistulas. In 36% of the patients with neurological involvement and HHT, vascular malformations of the brain and spinal cord were documented, and in 3%, portal-systemic encephalopathy was noted. Multiple lesions were frequent. HHT should be considered a generalized vascular dysplasia (universal or systemic angiomatosis), and not simply a benign mucocutaneous disease.- - - - - - - - - - ranking = 0.23537341957867keywords = nervous system (Clic here for more details about this article) |
10/11. Central nervous system arteriovenous malformations with hereditary hemorrhagic telangiectasia: report of a family with three cases.A family with central nervous system (CNS) arteriovenous malformations (AVMs) and hereditary hemorrhagic telangiectasia (HHT) is reported. A 46-year-old man had an intracerebral hemorrhage. cerebral angiography showed one AVM and two angiomas. The HHT was diagnosed because of the concomitant existence of cutaneous telangiectasia. The patient's brother had HHT and paraplegia since the age of 21. magnetic resonance imaging revealed an old spinal cord hemorrhage. The patient's son with HHT had an intracerebral hemorrhage at age 6. Angiograms showed two AVMs and one angioma. Familial CNS AVMs with HHT are extremely rare. The loci for human leukocyte antigen of the affected cases with HHT were evaluated, and the management of CNS AVMs with HHT is discussed.- - - - - - - - - - ranking = 1.9414936783147keywords = central nervous system, nervous system (Clic here for more details about this article) |
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