Diagnosis and Management of Cerebral Venous Thrombosis Due to Polycythemia Vera and Genetic Thrombophilia: Case Report and Literature Review.

(1) Background: Cerebral venous and dural sinus thrombosis (CVT) rarely appears in the adult population. It is difficult to diagnosis because of its variable clinical presentation and the overlapping signal intensities of thrombosis and venous flow on conventional MR images and MR venograms. (2) Case presentation: A 41-year-old male patient presented with an acute isolated intracranial hypertension syndrome. The diagnosis of acute thrombosis of the left lateral sinus (both transverse and sigmoid portions), the torcular Herophili, and the bulb of the left internal jugular vein was established by neuroimaging data from head-computed tomography, magnetic resonance imaging (including Contrast-enhanced 3D T1-MPRAGE sequence), and magnetic resonance venography (2D-TOF MR venography). We detected different risk factors (polycythemia vera-PV with JAK2 V617F mutation and inherited low-risk thrombophilia). He was successfully treated with low-molecular-weight heparin, followed by oral anticoagulation. (3) Conclusions: In the case of our patient, polycythemia vera represented a predisposing risk factor for CVT, and the identification of JAK2 V617F mutation was mandatory for the etiology of the disease. Contrast-enhanced 3D T1-MPRAGE sequence proved superior to 2D-TOF MR venography and to conventional SE MR imaging in the diagnosis of acute intracranial dural sinus thrombosis.

An Integrated Approach on the Diagnosis of Cerebral Veins and Dural Sinuses Thrombosis (a Narrative Review).

(1) Objective: This review paper aims to discuss multiple aspects of cerebral venous thrombosis (CVT), including epidemiology, etiology, pathophysiology, and clinical presentation. Different neuroimaging methods for diagnosis of CVT, such as computer tomography CT/CT Venography (CTV), and Magnetic Resonance Imaging (MRI)/MR Venography (MRV) will be presented. (2) Methods: A literature analysis using PubMed and the MEDLINE sub-engine was done using the terms: cerebral venous thrombosis, thrombophilia, and imaging. Different studies concerning risk factors, clinical picture, and imaging signs of patients with CVT were examined. (3) Results: At least one risk factor can be identified in 85% of CVT cases. Searching for a thrombophilic state should be realized for patients with CVT who present a high pretest probability of severe thrombophilia. Two pathophysiological mechanisms contribute to their highly variable clinical presentation: augmentation of venular and capillary pressure, and diminution of cerebrospinal fluid absorption. The clinical spectrum of CVT is frequently non-specific and presents a high level of clinical suspicion. Four major syndromes have been described: isolated intracranial hypertension, seizures, focal neurological abnormalities, and encephalopathy. Cavernous sinus thrombosis is the single CVT that presents a characteristic clinical syndrome. Non-enhanced CT (NECT) of the Head is the most frequently performed imaging study in the emergency department. Features of CVT on NECT can be divided into direct signs (demonstration of dense venous clot within a cerebral vein or a cerebral venous sinus), and more frequently indirect signs (such as cerebral edema, or cerebral venous infarct). CVT diagnosis is confirmed with CTV, directly detecting the venous clot as a filling defect, or MRI/MRV, which also realizes a better description of parenchymal abnormalities. (4) Conclusions: CVT is a relatively rare disorder in the general population and is frequently misdiagnosed upon initial examination. The knowledge of wide clinical aspects and imaging signs will be essential in providing a timely diagnosis.

Ultrasound Technologies and the Diagnosis of Giant Cell Arteritis.

Giant cell arteritis (GCA) is a primary autoimmune vasculitis that specifically affects medium-sized extracranial arteries, like superficial temporal arteries (TAs). The most important data to be considered for the ultrasound (US) diagnosis of temporal arteritis are stenosis, acute occlusions and "dark halo" sign, which represent the edema of the vascular wall. The vessel wall thickening of large vessels in GCA can be recognized by the US, which has high sensitivity and is facile to use. Ocular complications of GCA are common and consist especially of anterior arterial ischemic optic neuropathies or central retinal artery occlusion with sudden, painless, and sharp loss of vision in the affected eye. Color Doppler imaging of the orbital vessels (showing low-end diastolic velocities and a high resistance index) is essential to quickly differentiate the mechanism of ocular involvement (arteritic versus non-arteritic), since the characteristics of TAs on US do not correspond with ocular involvement on GCA. GCA should be cured immediately with systemic corticosteroids to avoid further visual loss of the eyes.

Diagnosis and Management of Mixed Transcortical Aphasia Due to Multiple Predisposing Factors, including Postpartum and Severe Inherited Thrombophilia, Affecting Multiple Cerebral Venous and Dural Sinus Thrombosis: Case Report and Literature Review.

Cerebral venous and dural sinus thrombosis (CVT) is an uncommon disease in the general population, although it is a significant stroke type throughout pregnancy and the puerperium. Studies describing this subtype of CVT are limited. Most pregnancy-associated CVT happen in late pregnancy, or more commonly in the first postpartum weeks, being associated with venous thrombosis outside the nervous system. Case presentation: The current study describes a case of multiple CVT in a 38-year-old woman with multiple risk factors (including severe inherited thrombophilia and being in the puerperium period), presenting mixed transcortical aphasia (a rare type of aphasia) associated with right moderate hemiparesis and intracranial hypertension. The clinical diagnosis of CVT was confirmed by laboratory data and neuroimaging data from head computed tomography, magnetic resonance imaging, and magnetic resonance venography. She was successfully treated with low-molecular-weight heparin (anticoagulation) and osmotic diuretics (mannitol) for increased intracranial pressure and cerebral edema. At discharge, after 15 days of evolution, she presented a partial recovery, with anomic plus aphasia and mild right hemiparesis. Clinical and imaging follow-up was performed at 6 months after discharge; our patient presented normal language and mild right central facial paresis, with chronic left thalamic, caudate nucleus, and internal capsule infarcts and a partial recanalization of the dural sinuses.

Management of an old woman with cavernous sinus thrombosis with two different mechanisms: case report and review of the literature.

Cavernous sinus thrombosis (CST) usually produces a characteristic clinical syndrome. Septic CST represents a sporadic, but severe complication of infection of the cavernous sinuses, which can bring high mortality and morbidity rates if not treated right away. Case presentation: The current research is a case report of a 64-year-old woman with inherited thrombophilia who developed an acute mastoid infection that resulted in septic right CST. The clinical diagnosis was verified by laboratory studies and evidence from high-resolution computed tomography (HRCT), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA). Clinical medical care resulted in the patient being successfully treated with low-molecular-weight heparin and broad-spectrum intravenous antibiotics, which avoided severe complications.

Left internal carotid artery agenesis associated with communicating arteries anomalies. A case report.

Agenesis, aplasia and hypoplasia of the internal carotid artery are rare congenital malformations. They are usually asymptomatic and incidentally discovered through ultrasound or imagistic tests. The aim of this study is to improve their management in our Departments. We report here the case of a 39-year-old woman addressed to our ambulatory in 2013 for benign symptoms like dizziness and headache. Imagistic findings (magnetic resonance imaging of the brain, and cervical spine, and magnetic resonance angiography of the head and neck) indicated a very rare condition: left internal carotid artery agenesis accompanied by the absence of the pre-communicant part of the left anterior cerebral artery and of the right posterior communicating artery. Internal carotid artery agenesis is an uncommon congenital anomaly and it could be misdiagnosed as stenosis/occlusion of this artery. This condition is important to be recognized due to the associated hemodynamic changes and in order to discover and evaluate other accompanying vascular malformations (aneurysms, collateral channels) and their life threatening potential risks (subarachnoid hemorrhage or ischemia). Also, it has a special importance in case of planning carotid or trans-sphenoidal hypophyseal surgery.

Multiple congenital anomalies of carotid and vertebral arteries in a patient with an ischemic stroke in the vertebrobasilar territory. Case report and review of the literature.

The congenital anomalies of the supra-aortic arteries and their branches as potential risk factors for cerebrovascular insufficiency are not yet fully investigated and clarified. This report describes the case of a 68-year-old man who was admitted in our Clinic for an acute ischemic stroke in the vertebrobasilar territory. Extracranial color-coded duplex sonography (CCDS) and computed tomography angiography revealed a combination of congenital anomalies of the neck arteries: left internal carotid artery hypoplasia, left common carotid artery hypoplasia, right vertebral artery hypoplasia and the emergence of the left vertebral artery directly from the aortic arch. The aim of this article is to emphasize the value of CCDS as an accurate, non-invasive method of assessing the neck arteries and, also, the importance of the morphological anomalies of the carotid and vertebral arteries in the cerebral hemodynamics.

Diagnosis and management of a young woman with acute isolated lateral sinus thrombosis.

Isolated lateral sinus thrombosis (LST) was mentioned in the past as a complication of middle ear infection. In the recent years, it was not frequently studied. Our patient, a 23-year-old woman who was taking an oral contraceptive pill, displayed 24 hours of migraine, such as headache; her systemic examinations were normal. She underwent neuroimaging examinations in the first 36 hours of admission. Native head computed tomography (CT) revealed hyperdensities along the left tentorium, involving the left lateral sinus (LS). Cranial magnetic resonance imaging (MRI) showed hypointense signal on MRI T2*SW (susceptibility-weighted) in the region of the left LS. MR venography noted the absence of flow-related signal within the left LS. The clinical symptoms, signs and neuroimaging results formulated the diagnosis of left isolated LS thrombosis. Laboratory data demonstrated an elevated D-dimer and homozygosity for the factor V Leiden mutation. She was immediately started on anticoagulation in the form of low-molecular-weight Heparin; then, she was treated with Warfarin for an indefinite duration. The headaches resolved within two days and her neurological examination was also normal. A second MR venography achieved after two weeks demonstrated complete recanalization of the venous sinuses. We did not observe any LST recurrence, deep vein thrombosis or pulmonary embolism during one year of follow-up. The early initialization of anticoagulation produced a favorable evolution. An acute isolated left LST could be identified in her case on the head CT combined with MRI and MR venography.

An evaluation on multidisciplinary management of carotid body paragangliomas: a report of seven cases.

Carotid body paragangliomas (CBPGLs) are a rare neoplasms of the neuroendocrine system that affect the carotid glomus. The aim of this study is to improve their management in our Departments. This retrospective analysis reports family history, clinical presentation, imaging diagnostics, Shamblin classification, surgical treatment, complications, and the outcome of seven patients with CBPGLs. All lesions were represented by a painless cervical mass, with no functional or bilateral neck tumors. One patient had two different localizations (the second one was a glomus tumor of the right prelachrymal sac), and a family history for CBPGL. All neck tumors were diagnosed during duplex ultrasound corroborated by magnetic resonance imaging (MRI), and by magnetic resonance angiography (MR-A). They presented a diameter between 3 and 5 cm (MRI). Complete subadventitial resection of the tumor was performed in all patients, with no preoperative embolization in any of the cases. The CBPGLs were confirmed on histopathology and immunohistochemistry. Lymph node metastasis was not found in any of the cases. Mortality and perioperative stroke rates were null. Transitory cranial nerve deficit occurred in one case without permanent palsy. After a follow-up of three years in each patient, there were no signs of tumor recurrence in any of the cases. Relatively early diagnosis of CBPGL was possible in our seven patients using multidisciplinary management. Preoperative planning of the surgical procedure by integrated diagnostic imaging was essential in our study to operate only Shamblin group II tumors, minimizing the known risk of complications associated with large CBPGL (group III).

Clinical and color Doppler imaging features of one patient with occult giant cell arteritis presenting arteritic anterior ischemic optic neuropathy.

Anterior ischemic optic neuropathies (AIONs) represent a segmental infarction of the optic nerve head (ONH) supplied by the posterior ciliary arteries (PCAs). Blood supply blockage can occur with or without arterial inflammation. For this reason, there are two types of AIONs: non-arteritic (NA-AION), and arteritic (A-AION), the latter is almost invariably due to giant cell arteritis (GCA). GCA is a primary vasculitis that predominantly affects extracranial medium-sized arteries, particularly the branches of the external carotid arteries (including superficial temporal arteries - TAs). One patient with clinical suspicion of acute left AION was examined at admission following a complex protocol including color Doppler imaging (CDI) of orbital vessels, and color duplex sonography of the TAs and of the carotid arteries. She presented an equivocal combination of an abrupt, painless, and severe vision loss in the left eye, and an atypical diffuse hyperemic left optic disc edema. She had characteristic CDI features for GCA with eye involvement: high resistance index, with absent, or severe diminished blood flow velocities, especially end-diastolic velocities, in all orbital vessels, especially on the left side (A-AION). Typical sonographic feature in temporal arteritis as part of GCA was "dark halo" sign. On the other hand, she did not present classic clinical or systemic symptoms of GCA: temporal headache, tender TAs, malaise (occult GCA). The left TA biopsy confirmed the diagnosis of GCA. The ultrasound investigations enabled prompt differentiation between NA-AION and A-AION, the later requiring in her case immediate steroid treatment, to prevent further visual loss in the right eye.

Pulsatile tinnitus caused by a dilated left petrosquamosal sinus.

The emissary veins, like the petrosquamosal sinus (PSS), are residual valveless veins, which connect the intracranial dural venous sinuses and the extracranial venous system. Rarely, they may cause pulsatile tinnitus (PT). A 22-year-old woman developed in the first week of puerperium worsening headaches, vomiting, and diplopia, and the accentuation of a PT in the left ear that she presented for eight years. The clinical examination findings nine days after delivery were unremarkable, with the exception of a left sixth nerve palsy, and a peculiar sensibility of the left temporo-mandibular joint. High-resolution computed tomography (HRCT) revealed an osseous canal in the air cells of the left temporal bone compatible with a PSS. CT and magnetic resonance (MR) imaging÷MR-venogram detected signs of thrombosis of the superior sagital sinus, and of the left lateral sinus. Laboratory tests revealed severe inherited thrombophilia. We used antithrombotic therapy (body weight-adjusted subcutaneous low-molecular weight heparin for three weeks, followed by indefinite therapy with warfarin), and the headaches, vomiting, and diplopia resolved within four days of treatment. A follow-up MR-venogram performed two weeks later indicated complete recanalization of the intracranial dural venous sinuses. The PT was improved after two weeks of medical therapy, so she could adapt to it without intervention on the PSS. The early initialization of an efficient medical therapy had a great impact on her favorable evolution. PSS could be identified in her case on HRCT.

Color Doppler imaging features in patients presenting central retinal artery occlusion with and without giant cell arteritis.

Introduction: Central retinal artery obstruction (CRAO) represents an abrupt diminution of blood flow through the CRA that is severe enough to cause ischemia of the inner retina with permanent unilateral visual loss. We presented the role of color Doppler imaging (CDI) of orbital vessels and of extracranial duplex sonography (EDS) in the etiological diagnosis of CRAO in two patients with clinical suspicion of unilateral CRAO. Case Report: Patients were examined following the protocol which included CDI of orbital vessels and EDS. Both patients had no emboli visible on ophthalmoscopy. The B-scan ultrasound evaluation of the first patient found a small round, moderately reflective echo within the right optic nerve, 1.5 mm behind the optic disc (emboli of cholesterol). CDI of retrobulbar vessels revealed the normal right ophthalmic artery (OA) hemodynamic parameters, but the first patient had no arterial flow signal on CDI at the distance of 1.5 mm behind the right optic disc. In contrast, the left eye had the normal aspect on CDI of retrobulbar vessels. The right internal carotid artery EDS identified a severe stenosis at its origin as CRA's emboli source. The second patient had characteristic CDI findings for giant cell arteritis (GCA) with eye involvement: severe diminished blood flow velocities, especially end-diastolic velocities, in both CRAs. Less abnormalities were observed in the posterior ciliary arteries, and in the ophthalmic arteries. The second patient had no systemic symptoms or signs of GCA. Conclusion: In the presented cases, the ultrasound investigation enabled prompt differentiation between central retinal artery occlusion of embolic mechanism and CRAO caused by GCA.

[Color Doppler imaging and central retinal artery occlusion]. / Ecografia Doppler color si obstructia arterei centrale a retinei.

PURPOSE: To assess the role of CDI of retrobulbar vessels in pathogenic diagnosis of CRAO. METHODS: We have used a sonographer with 9 MHz linear probe. RESULTS: We present four patients with CRAO that have no emboli visible on ophthalmoscopy The first patient had no blood flow signal on CDI on a surface of 2 millimeters behind the optic disc. B-scan ultrasound evaluation found a small round, moderate reflective echo within the optic nerve, 2 millimeters behind the optic disc. Carotid ultrasound examination found an ulcerated ateromatous plaque, as being the source of cholesterol emboli. The second patient had no detectable flow in central retinal artery due to multiple reverberations determined by calcic arterial emboli, placed 5 millimeters behind the optic disc. The chest X-ray showed an aortic plaque, considered the source of the emboli. The third patient had characteristic CDI findings for Horton disease: low blood velocities and high resistance index in all retrobulbar vessels, in both orbits. The diagnosis was sustained by carotid ultrasound. The last patient had a very low blood flow velocity in CRA, due to acute carotid occlusion. CONCLUSIONS: Ultrasound investigation is a valuable diagnostic tool for identifying potential systemic conditions associated with CRAO.

[Carotid-cavernous fistulas of low-flow type: color Doppler imaging of retrobulbar vessels findings]. / Aportul ecografiei Doppler color a vaselor retrobulbare în diagnosticul fistulelor carotido-cavernoase cu flux lent.

BACKGROUND: Carotid-cavernous fistulas (CCF) of low-flow type are the results of development of communication between small arteries and veins of cavernous sinus. PURPOSE: To assess the role of CDI of retrobulbar vessels in the study of two patients with CCF of low-flow type. METHODS: We have used a sonographer with 9MHz linear probe. RESULTS: . The initial diagnosis was suspected clinically: both patients presented unilateral chemosis and orbital bruit. It was sustained by CDI of retrobulbar vessels: reversed flow in the superior ophthalmic vein, with a venous arterialisation and confirmed with complete selective digital substraction angiography, which is essential for a correct diagnosis(early opacification of veins draining cavernous sinus, etc). CONCLUSIONS: CDI of retrobulbar vessels is a repetitive non-invasive technique, which is used for monitoring carotid-cavernous fistulas of low-flow type, because they are sometimes a self-limiting pathology (spontaneous venous thrombosis).

[Giant cell arteritis with eye involvment--color Doppler imaging or retrobulabar vessels findings]. / Aportul ecografiei Doppler color a vaselor retrobulbare in diagnosticul Maladiei Horton cu manifestari oculare.

BACKGROUND: Giant cell arteritis (temporal arteritis) is a primary vasculitis, that affects large arteries, especially branches of the external carotid artery (ECA). PURPOSE: To assess the role of CDI of retrobulbar vessels in the study of two patients with giant cell arteritis with eye involvement. METHODS: We have used a sonographer with 8-15 MHz linear probe. RESULTS: Both patients presented malaise, temporal headache, tender temporal arteries and signs of inflammation. The first patient had a central retinal artery obstruction of the right eye, and the second had anterior ischaemic optic neuropathy of the left eye. Temporal artery histology was positive in both cases. Ultrasound investigation was performed within the first 10 days of corticosteroid treatment. CDI of retrobulbar vessels detected low blood velocities, especially end-diastolic velocities and high resistance index in all retrobulbar vessels, in both orbits. Typical sonographic features in temporal arteritis were "halo", associated with stenoses or occlusions of branches of ECA. CONCLUSIONS: Ultrasound investigation is a valuable diagnostic tool to investigate giant cell arteritis.

[Color Doppler ecography in diagnosis membranous echoes]. / Aportul ecografiei Doppler color în diagnosticul ecourilor membraniforme intraoculare.

The positive and differential diagnosis of retinal detachment can be sometimes quite a challange: low media transparency pitfalls in diagnosing the disease. Color Doppler imaging can be helpful for the physician.

[Color Doppler ecography in the study of retrobulbar circulation changes caused by optic nerve drusen]. / Aportul ecografiei Doppler color în studiul modificarilor circulatorii retrobulbare determinate de drusenele nervului optic.

Very often, the optic disc drusen it is an unexpected discover on an clinical routine exam. The vascular changes can lead to major visual impairments (central retinal artery occlusion, NAION, hemorrhagic complications).

[Peripheral alexias]. / Alexiile periferice.

The brain lesions could lead to impairments of the comprehension and production of written language. This acquired inability is named alexia. It is a significant problem for neurologists and ophthalmologists. Our study presents a classification of the alexias, whose pathology was describe first by Dejerine (1891; 1892). There are two varieties of alexias: central alexias and peripheral alexias (especially agnozic alexia and attentional alexia). In agnozic alexia, the patient cannot read, but can write, understand and speak. It results from a type of cerebral disconnection in which the angular gyrus of the dominant hemisphere is disconnected from its bilateral visual input. The most commonly reported pathology is occlusion of the dominant (left) posterior cerebral artery, which leads to infarction of both the left occipital lobe (causing partial or complete right homonymous hemianpsia) and the splenium of the corpus callosum.