The Heidenhain variant of Creutzfeldt-Jakob disease

http://dx.doi.org/10.1590/0100-3984.2017.0160 Bruna Miers May1,a, Matheus Dorigatti Soldatelli1,b, Felipe Soares Torres1,c 1. Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil. a. https://orcid.org/0000-0001-9670-8748; b. https://orcid.org/0000-0002-1544-4398; c. https://orcid.org/0000-0002-3110-588X. Correspondence: Dra. Bruna Miers May. Avenida Independência, 510, Independência. Porto Alegre, RS, Brazil, 90035-071. Email: brunamiersmay@gmail.com. Received 13 September 2017. Accepted after revision 3 November 2017. its use, suggesting that it also increases the risk of cardiac and thromboembolic events in the long term. In the case presented here, thrombosis was identified by CTA in two different vascular territories—in the lung (pulmonary embolism) and heart (coronary thrombosis). Our finding of hypoperfusion of the left ventricular myocardium, which is supplied by the right coronary artery, reflects acute coronary occlusion and corresponds to ST segment changes on the ECG. Although ECG-gated CT is usually the noninvasive method of choice for evaluating coronary artery disease, non-ECG-gated CT of the chest may suffice as a means of providing diagnostic information regarding the patency of the coronary arteries in some cases. In addition, CTA is a widely available method of evaluating the pulmonary arteries and thoracic aorta, highlighting the unique role of CT in patients who are treated with cisplatin and suspected of having experienced a vascular event.

The Heidenhain variant of Creutzfeldt-Jakob disease showed acute, periodic triphasic waves, predominantly in the posterior areas. CJD, also known as transmissible spongiform encephalopathy or prion disease, is a rare, rapidly progressive neurodegenerative disease with no predilection for gender, preferentially affecting patients between the fifth and eighth decades of life. It can be sporadic, which is the most common form, accounting for 85% of cases; inherited, by various mutations in the prion protein gene; iatrogenic, caused by inoculation of prions with contaminated materials; or in a variant form, which usually results from the transmission of bovine spongiform encephalopathy to humans, usually through the consumption of contaminated meat (1-3) . The typical clinical findings include a rapid decline in cognitive function, followed by myoclonic jerks and akinetic mutism. However, in HvCJD, the classic manifestation is cortical blindness due to involvement of the parieto-occipital

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A 78-year-old man presented with a two-month history of progressive spatial disorientation and altered color perception, without significant behavioral changes or seizures. An ophthalmologic examination showed no alterations. Serological tests for HIV and syphilis were negative. On magnetic resonance imaging (MRI) of the brain, fluid-attenuated inversion recovery (FLAIR) sequences showed a hyperintense signal in the cortical region, most pronounced in the parietal and occipital lobes, together with restricted diffusion (Figure 1). There were no signs of involvement of the white matter or basal ganglia; nor was there any contrast enhancement. A diagnosis of Heidenhain variant of Creutzfeldt-Jakob disease (HvCJD) was suggested, and that hypothesis was corroborated by electroencephalography, which

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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 shuntas 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 cortex, which can be accompanied by myoclonus and progressive dementia (1,3) .
MRI studies have come to play an ever more important role in the evaluation of patients with neurological diseases (4-7) . 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 (3) . 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 (8,9) .
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 (3) .
In HvCJD, the electroencephalogram typically shows acute, periodic triphasic waves, predominantly in the posterior areas (10) . Analysis of the cerebrospinal fluid can reveal elevated 14-3-3 protein levels (3) . 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 (11) . The prognosis is bleak, and death usually occurs within one year (2,9) .
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 (3) . 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. at its emergence from the superior mesenteric artery, which was also ectatic ( Figure 1D).
Imaging exams have played an important role in the study of liver diseases (1)(2)(3)(4)(5) . Hereditary hemorrhagic telangiectasia is a dominant autosomal disease with a prevalence of 10-20 cases per 100,000 population (6) . It is a rare systemic fibrovascular dysplasia that makes the walls of blood vessels more vulnerable to trauma and spontaneous ruptures (7) . It affects multiple organs and systems, being characterized mainly by the presence of telangiectasias or vascular shunts in the liver, lungs, kidneys, central nervous system, or skin (8,9) . In adults, it typically manifests as recurrent epistaxis, mucocutaneous telangiectasias, digestive tract hemorrhage, and hemoptysis (9,10) . Telangiectasias appear gradually, the most common sites being the lips, tongue, palate, fingers, and face. The diagnosis of the syndrome is based on the presence of three of the four diagnostic criteria (8) : mucocutaneous telangiectasias, recurrent spontaneous epistaxis, visceral arteriovenous malformations, and a positive family history.
In Rendu-Osler-Weber syndrome, the liver is the organ most often affected, hepatic involvement being reported in 74% of cases. Hepatic involvement is typically diagnosed 10-20 years after the