Radiological findings in the liver of a patient with Rendu-Osler-Weber syndrome

Abstract

A 57-year-old male patient with Rendu-Osler-Weber syndrome presented to the emergency department with a 24-h history of lumbar pain. A computed tomography scan of the abdomen showed liver alterations typical of the syndrome (telangiectasias, shunts, and arteriovenous malformations), which is also known as hereditary hemorrhagic telangiectasia. The examination showed opacification of the hepatic veins in the early arterial phase—a consequence of the arteriovenous shunts (Figure 1A). We observed heterogeneous opacification of the portal vein during the portal phase, with more pronounced enhancement in the intrahepatic branches—a result of portal venous shunt— as well as numerous prominent vessels near the hepatic hilum, corresponding to an arteriovenous malformation (Figure 1B). We also observed a confluent vascular mass, measuring 1.4 cm, located in segment II (Figure 1C). In addition, there were extensive areas of altered perfusion in the hepatic parenchyma, in a mosaic pattern, as well as increased caliber of the hepatic artery Radiological findings in the liver of a patient with Rendu-Osler-Weber syndrome Bernardo Carvalho Muniz1,a, Lana Sayuri Makita2,b, Bruno Niemeyer de Freitas Ribeiro1,c, Edson Marchiori3,d 1. Instituto Estadual do Cérebro Paulo Niemeyer – Departamento de Radiologia, Rio de Janeiro, RJ, Brazil. 2. Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro, RJ, Brazil. 3. Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil. Correspondence: Dr. Bernardo Carvalho Muniz. Instituto Estadual do Cérebro Paulo Niemeyer – Departamento de Radiologia. Rua do Resende, 156, Centro. Rio de Janeiro, RJ, Brazil, 20231-092. Email: [email protected]. a. https://orcid.org/0000-0003-1483-2759; b. https://orcid.org/0000-0002-5002-8314; c. https://orcid.org/0000-0002-1936-3026; d. https://orcid.org/0000-0001-8797-7380. Received 18 September 2017. Accepted after revision 16 November 2017. cortex, which can be accompanied by myoclonus and progressive dementia. MRI studies have come to play an ever more important role in the evaluation of patients with neurological diseases. On MRI, the sporadic and inherited forms of CJD usually present areas of high signal intensity in T2-weighted and FLAIR sequences, with restricted diffusion, in the cerebral cortex and the basal ganglia, especially the striatum, in a focal or diffuse, symmetric or asymmetric form, sparing the region around the rolandic cortex and the thalami. Classic signs such as the pulvinar sign and the “hockey stick” sign are typical of the variant form and are characterized respectively by hyperintense signals in T2-weighted and FLAIR sequences of the posterior and posteromedial thalami. In HvCJD, there is invariably involvement of the parietooccipital cortex, including the primary visual cortex, characterized on MRI by hyperintense signals in T2-weighted and FLAIR sequences, together with restricted diffusion, typically with preservation of the subcortical white matter and of the basal ganglia. It is noteworthy that restricted diffusion can precede the clinical manifestations of CJD. In HvCJD, the electroencephalogram typically shows acute, periodic triphasic waves, predominantly in the posterior areas. Analysis of the cerebrospinal fluid can reveal elevated 14-3-3 protein levels. Histopathological analysis is the gold standard diagnostic method, showing marked neuronal loss, spongiform changes, intense astrogliosis and immunoreactivity to the abnormal pathogenic isoform of the prion protein. The prognosis is bleak, and death usually occurs within one year. It is important to make the differential diagnosis of HvCJD. The main differential diagnoses are frontotemporal dementia, status epilepticus, hypoxic-ischemic encephalopathy, severe hypoglycemia, immune-mediated autoimmune encephalopathy, posterior cortical atrophy, and hyperammonemia. Although rare, HvCJD should be borne in mind in the differential diagnosis of visuospatial deficits, especially when MRI shows areas of high signal intensity in T2-weighted and FLAIR sequences, together with restricted diffusion, in the cortical region of the occipital lobes. REFERENCES