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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) is an autosomal dominant, systemic fibrovascular dysplasia in which telangiectases, arteriovenous malformations, and aneurysms may be widely distributed throughout the body vasculature. Major clinical manifestations include: recurrent bleeding from mucosal telangiectases and arteriovenous malformations; hypoxemia, cerebral embolism, and brain abscess due to pulmonary arteriovenous fistulas; high-output congestive heart failure and portosystemic encephalopathy from hepatic arteriovenous malformations; and a variety of neurologic symptoms due to central nervous system angiodysplasia. Therapy is primarily supportive, consisting of iron supplementation and blood transfusion. Septal dermoplasty and oral estrogens may allow prolonged remission of epistaxis, but permanent surgical cure of gastrointestinal bleeding is rarely feasible because of diffuse angiodysplasia of the alimentary tract. Ligation, resection, or embolization may be indicated for pulmonary arteriovenous fistulas. The prognosis and survival of patients with hereditary hemorrhagic telangiectasia are favorable, providing treatable complications are accurately diagnosed.
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PMID:Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). 355 68

We treated a Japanese man with Rendu-Osler-Weber disease and a recurrent encephalopathy with hyperammonemia concomitant with recurrent epistaxis, G-I bleeding, congestive heart failure with aortic and mitral regurgitation, and chronic renal failure. At peritoneoscopy, several telangiectasia were noted on the surface of the liver. Angiographical studies revealed widened and tortuous hepatic arteries with early filling of hepatic veins and small pools of contrast medium scattered throughout the parenchyma. The recurrent encephalopathy was attributed to the porto-systemic shunt formed in the liver.
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PMID:Rendu-Osler-Weber disease with portosystemic encephalopathy. 369 24

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.
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PMID:CNS manifestations of hereditary hemorrhagic telangiectasia. 643 22

A case of hereditary hemorrhagic teleangiectasia (HHT) or Rendu-Osler-Weber disease with neurological involvement is reported. The patient presented a diffuse cortical dysfunction with seizures after a gastric haemorrhage disturbance. The authors could not find vascular malformations of brain or pulmonary arteriovenous fistula (PAVF), so a anoxic encephalopathy followed a shock or a microangiopathic dysfunction is postulated. The main neurological manifestations of HHT are discussed, emphasizing in the first place the role of the PAVF on the genesis of cerebral hypoxemia and brain abscess and occasionally a cerebral thrombosis caused by polycythemia and in the second place the vascular malformations of brain and spinal cord. The portal-systemic encephalopathy may also occur as a neurological complication in few cases.
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PMID:[Hereditary hemorrhagic telangiectasia. Report of a case]. 666 Nov 5

This study describes the imaging features of the intrahepatic portohepatic venous (PHV) shunt, which is a potential cause of portosystemic encephalopathy in Rendu-Osler-Weber disease. Six patients with Rendu-Osler-Weber disease (two men, four women; age range 42-73 years) were retrospectively studied. There were two from one family and three from another family. Of these patients, one was diagnosed with definitive portosystemic encephalopathy because of a psychiatric disorder. We retrospectively reviewed the radiological examinations, including abdominal angiography (n=6), three-phase dynamic helical computed tomography (CT; n=3), and conventional enhanced CT (n=1). In one patient, CT during angiography and CT angioportography were also performed. Evaluation was placed on the imaging features of intrahepatic PHV shunts. On angiography, intrahepatic PHV shunts showing multiple and small shunts <5 mm in diameter in an apparent network were detected in all patents. In two patients, a large shunt with a size of either 7 or 10 mm was associated. These intrahepatic PHV shunts were predominantly distributed in the peripheral parenchyma. Intrahepatic PHV shunts would be characterized by small and multiple shunts in an apparent network on the periphery with or without a large shunt.
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PMID:Intrahepatic porto-hepatic venous shunts in Rendu-Osler-Weber disease: imaging demonstration. 1450 5

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal-dominant vascular disease characterized by mucocutaneous or visceral angiodysplastic lesions (telangiectases and arteriovenous malformations) that may be widely distributed throughout the cardiovascular system. The recognition of mucocutaneous telangiectases, the occurrence of spontaneous and recurrent episodes of epistaxis, the presence of visceral involvement, and a family history of this disease are the clinical criteria that allow diagnosis. In comparison with skin, lungs, gastrointestinal tract, and brain involvement, hepatic involvement defined by clinical criteria alone has long been considered uncommon. Our experience with a large group of HHT patients, even those asymptomatic for liver involvement, demonstrates that it is more frequent than reported and is characterized by the presence of intrahepatic shunts, disseminated intraparenchymal telangiectases, and other vascular lesions. Congestive cardiac failure, portal hypertension, portosystemic encephalopathy, cholangitis, and atypical cirrhosis have been reported as possible serious complications related to this condition. Thus, a correct diagnosis is important, and diagnostic imaging has a fundamental role in detecting alterations involving the liver. The possibilities to perform a multiphasic study and to provide high-quality multiplanar and angiographic reconstructions, gives multidetector row helical computed tomography the ability to detect and characterize the complex anatomopathologic alterations typical of this disease.
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PMID:Hepatic involvement in hereditary hemorrhagic telangiectasia: CT findings. 1529 Sep 48

Hereditary Haemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal-dominant vascular disease characterised by mucocutaneous or visceral angiodysplastic lesions (telangiectases and arteriovenous malformations), which may be widely distributed throughout the cardiovascular system. Its diagnosis is based on clinical criteria. Liver, lungs and brain, in order of prevalence, are the most frequently involved visceral districts of the body other than skin and nasal mucosa. Liver involvement is frequent and characterised by the presence of intrahepatic shunts, disseminated intraparenchymal telangiectases and other vascular lesions. Although it is usually asymptomatic, congestive cardiac failure, portal hypertension, portosystemic encephalopathy, cholangitis or atypical cirrhosis are possible complications. Pulmonary arteriovenous malformations involve more than one third of HHT patients and can consist of diffuse telangiectases or high-flow low-pressure shunts between pulmonary arteries and veins. Pulmonary involvement can cause serious complications: hypoxaemia, pulmonary or pleural hemorrhage, paradoxical embolism into cerebral circulation. Various types of cerebrovascular malformations can affect HHT patients and the most common are arteriovenous malformations, consisting of one or more feeding arteries connected to one or more draining veins. Diagnostic imaging has a fundamental role in detecting the alterations involving these various districts in the body. The possibility to perform fast and complete studies and to provide high quality multiplanar and angiographic reconstructions, gives multi-detector row helical computed tomography and magnetic resonance the ability to detect and characterise the complex anatomo-pathological alterations typical of HHT. Ultrasonography seems to be the best screening modality for hepatic and pulmonary involvement.
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PMID:Hereditary haemorrhagic teleangiectasia: diagnostic imaging of visceral involvement. 1661 Nov 5

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder that can involve the liver diffusely in the form of vascular malformations ranging from small telangiectases to discrete arteriovenous malformations. Anatomically, three different patterns of abnormal vascular communications can occur in liver: portal vein to hepatic vein (portovenous), hepatic artery to hepatic vein (arteriovenous) and hepatic artery to portal vein (arterioportal), with the most common being arteriovenous. Only 5 to 8% of patients with these vascular malformations are symptomatic. When symptomatic, patients present with high-output cardiac failure, biliary ischemia (which, when severe, can progress to biliary and hepatic necrosis and lead to acute liver failure), or portal hypertension. Other less common presentations include portosystemic encephalopathy and abdominal angina. Diagnosis is confirmed by Doppler ultrasonography or multidetector computed tomography. The hallmark findings are intrahepatic hypervascularization and an enlarged common hepatic artery. Focal nodular hyperplasia and nodular regenerative hyperplasia are common findings. Symptomatic patients are treated with intensive medical treatment aimed at the predominant clinical presentation. Patients who fail aggressive medical therapy and those with acute biliary/hepatic necrosis should be considered for liver transplantation.
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PMID:Hepatic vascular malformations in hereditary hemorrhagic telangiectasia. 1881 78

Osler-Weber-Rendu disease is a rare autosomal dominant disorder of fibrovascular tissues, characterized by a classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and a familial occurrence. Portosystemic encephalopathy in a patient with Osler-Weber-Rendu disease is rare, but we experienced a case presenting with recurrent portosystemic encephalopathy in Osler-Weber-Rendu disease. We report on a case of a 75-year-old female presenting with an altered mentality. Initial studies including brain imaging study did not reveal any specific cause for her mental status. She was diagnosed with the rare disease after a series of tests and received conservative treatment. Her neurological status recovered fully without complication after conservative treatment and she was discharged after 18 hospital days. This case demonstrated an extremely rare case of Osler-Weber-Rendu disease presenting as portosystemic encephalopathy treated successfully with conservative treatment. For patients who have shown hepatic encephalopathy without a definite cause, we recommend evaluation for the possibility of Osler-Weber-Rendu disease. Conservative treatment based on treatment of advanced liver cirrhosis could be an alternative solution.
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PMID:Osler-Weber-Rendu disease presenting as recurrent portosystemic encephalopathy in a 75-year-old female patient. 2560 56

The Rendu-Osler-Weber syndrome is a rare systemic fibrovascular dysplasia, recognized by mucocutaneous telangiectasias, arteriovenous malformations, epistaxis and family history. Recurrent bleeding, hypoxemia, congestive heart failure, portosystemic encephalopathy, and symptoms related to angiodysplasia of the central nervous system may occur. Since the treatment is based on supportive measures, early recognition is of utmost importance. This article reports the case of a 53-year-old male patient who presented telangiectasias on fingers, oral cavity and nasal mucosa for 10 years, with a history of recurrent epistaxis of varying severity since childhood. Mother, sister and daughter have similar lesions.
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PMID:Rendu-Osler-Weber syndrome: dermatological approach. 2631 24


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