Midterm follow-up after embolization of intracranial aneurysms proximal to the circle of Willis with the Silk Vista flow diverter: the I-MAMA registry.

PURPOSE: The aim of this registry was to assess technical success, procedural safety and mid- to long-term follow-up results of the Silk Vista "Mama" (SVM) flow diverter (BALT, Montmorency, France) for the treatment of proximal intracranial aneurysms. METHODS: Between August 2020 and March 2022, data from nine Italian neurovascular centres were collected. Data included patients' clinical presentation, aneurysms' size, location and status, technical details, overall complications and mid- to long-term angiographic follow-up. RESULTS: Forty-eight aneurysms in 48 patients were treated using the SVM. Most aneurysms were small (≤ 10 mm: no. 29, 60%) and unruptured (no. 31, 65%); 13 aneurysms were recurrent after coiling or clipping. 37/48 aneurysms involved the internal carotid artery (77%). Optimal opening and complete wall apposition of the device were achieved in 46 out of 48 cases (96%). Four intra- or periprocedural complications occurred (two thrombotic complications successfully resolved, one cerebellar ischemia, one perirenal hematoma), without new neurological deficit. No significant intra-stent stenosis or stent displacement was observed during follow-up. No FD-related morbidity nor mortality was reported. At midterm (6-12 months) to long-term (> 12 months) follow-up, complete aneurysm occlusion (OKM D) was achieved in 76% of cases. Eighty-eight percent of patients had complete aneurysm occlusion or entry remnant (OKM D + C). CONCLUSIONS: Our experience suggests that the new generation of low-profile SVM flow diverter for the treatment of proximal intracranial aneurysms is safe and effective, with low rates of intraprocedural complications and acceptable mid- to long-term occlusion rate.

Hemangioblastomas and Other Vascular Origating Tumors of Brain or Spinal Cord.

Hemangioblastomas (HBs) are highly vascularized, slow-growing, rare benign tumors (WHO grade I). They account for about 2% of intracranial neoplasms; however, they are the most common primary cerebellar tumors in adults. Another frequent seat is the spinal cord (2-10% of primary spinal cord tumors). HBs are constituted by stromal and capillary vascular cells; macroscopically, HBs appear as nodular tumors, with or without cystic components. Although most of the HBs are sporadic (57-75%), they represent a particular component of von Hippel-Lindau disease (VHL), an autosomal dominant syndrome with high penetrance, due to a germline pathogenic mutation in the VHL gene, which is a tumor suppressor with chromosomal location on the short arm of chromosome three. VHL disease determines a variety of malignant and benign tumors, most frequently HBs, renal cell carcinomas, pheochromocytomas/paragangliomas, pancreatic neuroendocrine tumors, and endolymphatic sac tumors. Up to 20% of cases are due to de novo pathogenic variants without a family history. Many epidemiologic details of these tumors, especially the sporadic forms, are not well known. The median age of patients with sporadic HBS is about 40 years. More than two-third of VHL patients develop one or more central nervous system HBs during their lifetime; in case of VHL, patients at first diagnosis are usually younger than the patients with sporadic tumors. The most common presenting signs and symptoms are related to increased intracranial pressure, cerebellar signs, or spinal cord alterations in case of spinal involvement. Magnetic resonance imaging is the gold standard for the diagnosis, assessment, and follow-up of HBs, both sporadic and syndrome-related; angiography is rarely performed because the diagnosis is easily obtained with magnetic resonance. However, the diagnosis of an asymptomatic lesion does not automatically result in therapeutic actions, as the risks of treatment and the onset of possible neurological deficit need to be balanced, considering that HBs may remain asymptomatic and have a static or slow-growing behavior. In such cases, regular follow-up can represent a valid therapeutic option until the patients remain asymptomatic. There are no actual pharmacological therapies that are demonstrated to be effective for HBs. Surgery represents the primary therapeutic approach for these tumors. Observation or radiotherapy also plays a role in the long-term management of patients harboring HBs, especially in VHL; in few selected cases, endovascular treatment has been suggested before surgical removal. This chapter presents a systematic overview of epidemiology, clinical appearance, histopathological and neuroradiological characteristics of central nervous system HBs. Moreover, the genetic and molecular biology of sporadic and VHL HBS deserves special attention. Furthermore, we will describe all the available therapeutic options, along with the follow-up management. Finally, we will briefly report other vascular originating tumors as hemangioendotheliomas, hemangiomas, or angiosarcomas.

The Role of Bypass Surgery for the Management of Complex Intracranial Aneurysms in the Anterior Circulation in the Flow-Diverter Era: A Single-Center Series.

Despite the increasing popularity of flow diverters (FDs) as an endovascular option for intracranial aneurysms, the treatment of complex aneurysms still represents a challenge. Combined strategies using a flow-preservation bypass could be considered in selected cases. In this study, we retrospectively reviewed our series of patients with complex intracranial aneurysms submitted to bypass. From January 2015 to May 2022, 23 patients were selected. We identified 11 cases (47.8%) of MCA, 6 cases (26.1%) of ACA and 6 cases (26.1%) of ICA aneurysms. The mean maximal diameter was 22.73 ± 12.16 mm, 8 were considered as giant, 9 were fusiform, 8 presented intraluminal thrombosis, 10 presented wall calcification, and 18 involved major branches or perforating arteries. Twenty-five bypass procedures were performed in 23 patients (two EC-IC bypasses with radial artery graft, seventeen single- or double-barrel STA-MCA bypasses and six IC-IC bypasses in anterior cerebral arteries). The long-term bypass patency rate was 94.5%, and the total aneurysm exclusion was 95.6%, with a mean follow-up of 28 months. Median KPS values at last follow-up was 90, and a favorable outcome (KPS ≥ 70 and mRS ≤ 2) was obtained in 87% of the cases. The use of bypass techniques represents, in selected cases, a valid therapeutic option in the management of complex anterior circulation aneurysms when a simpler direct approach, including the use of FD, is considered not feasible.

The Pre-Lumbar puncture Intracranial Hypertension Scale (PLIHS): A practical scale to identify subjects with normal cerebrospinal fluid pressure in the management of idiopathic intracranial hypertension.

BACKGROUND: Idiopathic Intracranial Hypertension (IIH) diagnosis requires lumbar puncture to measure cerebrospinal fluid (CSF) pressure. The Pre-Lumbar puncture Intracranial Hypertension Scale (PLIHS) is aimed to detect cases that will show raised or normal CSF opening pressure. METHODS: Retrospective analysis of records of patients who underwent lumbar puncture for suspect IIH. The target was CSF opening pressure ≥ 250 mmH2O, whereas a set of known neurological, neuro-ophthalmological and neuro-radiological parameters, plus obesity, were used as predictors in a logistic regression model. The PLIHS was based on significant predictors and a cut-off was validated using chi-squared test around CSF opening pressure ≥ 250 and < 200 mmH2O. RESULTS: Records of 162 patients were included: CSF opening pressure was <200 mmH2O in 40 and ≥ 250 mmH2O in 95 patients; 85 fulfilled IIH diagnosis. PLIHS is based on Frisén grade 2 or higher papilledema, tinnitus, empty sella, perioptic subarachnoid space distension, and obesity. Score range is 0-7: correlation with CSF opening pressure is 0.508 (p < .001), and PLIHS score is different between subjects not diagnosed with IIH, and those diagnosed with IIH both with and without papilledema (p < .001). PLIHS score ≤ 2 identifies cerebrospinal fluid pressure < 200 mmH2O; PLIHS score ≥ 3 identifies CSF opening pressure ≥ 250 mmH2O, IIH diagnosis, visual acuity ≤0.7, and optic nerve atrophy. CONCLUSIONS: The PLIHS, can be used to identify patients who will particularly need LP, thus helping with the organization of the diagnostic work-up by optimising healthcare resources and potentially limit the likelihood to incur in LP-related adverse events.

Characteristics of Moyamoya Disease in the Older Population: Is It Possible to Define a Typical Presentation and Optimal Therapeutical Management?

Whereas several studies have been so far presented about the surgical outcomes in terms of mortality and perioperative complications for elderly patients submitted to neurosurgical treatments, the management of elderly moyamoya patients is unclear. This review aims to explore the available data about the clinical manifestation, characteristics, and outcome after surgery of older patients with moyamoya arteriopathy (MA). We found only two articles strictly concerning elderly patients with MA. We have also evaluated other reported adult series of moyamoya patients, including elderly cases in their analysis. Patients with MA above 50 years old may be considered a peculiar subset in which patients are often presenting with ischemic symptoms and a higher Suzuki grade. Conservative treatment may be proposed in asymptomatic or stable cases due to their fragility and possible increase of post-operative complications, while the best surgical options in symptomatic cases are still under investigation, although we believe that a minimal invasive superficial temporal artery-middle cerebral artery bypass could be considered the treatment of choice for the immediate effect on brain perfusion with a limited rate of post-operative complications.

Long-term follow-up of the Derivo® Embolization Device (DED®) for intracranial aneurysms: the Italian Multicentric Registry.

BACKGROUND: The flow-diverter devices (FDDs) safety and effectiveness have been demonstrated by large series and meta-analyses. Due to the high occlusion rates and the acceptable morbidity rates of FDDs, the indications for their use are continuously expanding. We presented our Italian multicentric experience using the second generation of DERIVO® Embolization Device (DED®; Acandis, Pforzheim, Germany) to cure cerebral aneurysms, evaluating both middle and long-term safety and efficacy of this device. METHODS: Between July 2016 and September 2017 we collected 109 consecutive aneurysms in 108 patients treated using DED® during 109 endovascular procedures in 34 Italian centers (100/109 aneurysms were unruptured, 9/109 were ruptured). The collected data included patient demographics, aneurysm location and characteristics, baseline angiography, adverse event and serious adverse event information, morbidity and mortality rates, and pre- and post-treatment modified Rankin Scale scores. Midterm and long-term clinical, angiographic and cross-sectional CT/MR follow-up were recorded and collected until December 2018. RESULTS: In 2/109 cases, DED® placement was classified as technical failures. The overall mortality and morbidity rates were respectively 6.5% and 5.5%. Overall DERIVO® related mortality and morbidity rates were respectively 0% and 4.6% (5 out of 108 patients). Midterm neuroimaging follow-up showed the complete or nearly complete occlusion of the aneurysm in 90% cases, which became 93% at long-term follow-up. Aneurysmal sac shrinking was observed in 65% of assessable aneurysms. CONCLUSIONS: Our multicentric experience using DED® for endovascular treatment of unruptured and ruptured aneurysms showed a high safety and efficacy profile, substantially equivalent or better compared to the other FDDs.

Additive Fabrication of a Vascular 3D Phantom for Stereotactic Radiosurgery of Arteriovenous Malformations.

In this study, an efficient methodology for manufacturing a realistic three-dimensional (3D) cerebrovascular phantom resembling a brain arteriovenous malformation (AVM) for applications in stereotactic radiosurgery is presented. The AVM vascular structure was 3D reconstructed from brain computed tomography (CT) data acquired from a patient. For the phantom fabrication, stereolithography was used to produce the AVM model and combined with silicone casting to mimic the brain parenchyma surrounding the vascular structure. This model was made with tissues-equivalent materials for radiology. The hollow vascular system of the phantom was filled with a contrast agent usually employed on patients for CT scans. The radiological response of the phantom was tested and compared with the one of the clinical case. The constructed model demonstrated to be a very accurate physical representation of the AVM and its vasculature and good morphological consistency was observed between the model and the patient-specific source anatomy. These results suggest that the proposed method has potential to be used to fabricate patient-specific phantoms for neurovascular radiosurgery applications and medical research.

Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells.

The pathophysiological mechanisms of Moyamoya angiopathy (MA), which is a rare cerebrovascular condition characterized by recurrent ischemic/hemorrhagic strokes, are still largely unknown. An imbalance of vasculogenic/angiogenic mechanisms has been proposed as one possible disease aspect. Circulating endothelial progenitor cells (cEPCs) have been hypothesized to contribute to vascular remodeling of MA, but it remains unclear whether they might be considered a disease effect or have a role in disease pathogenesis. The aim of the present study was to provide a morphological, phenotypical, and functional characterization of the cEPCs from MA patients to uncover their role in the disease pathophysiology. cEPCs were identified from whole blood as CD45dimCD34+CD133+ mononuclear cells. Morphological, biochemical, and functional assays were performed to characterize cEPCs. A significant reduced level of cEPCs was found in blood samples collected from a homogeneous group of adult (mean age 46.86 ± 11.7; 86.36% females), Caucasian, non-operated MA patients with respect to healthy donors (HD; p = 0.032). Since no difference in cEPC characteristics and functionality was observed between MA patients and HD, a defective recruitment mechanism could be involved in the disease pathophysiology. Collectively, our results suggest that cEPC level more than endothelial progenitor cell (EPC) functionality seems to be a potential marker of MA. The validation of our results on a larger population and the correlation with clinical data as well as the use of more complex cellular model could help our understanding of EPC role in MA pathophysiology.

In Situ Side-to-Side Pericallosal-Pericallosal Artery and Callosomarginal-Callosomarginal Artery Bypasses for Complex Distal Anterior Cerebral Artery Aneurysms: A Technical Note.

BACKGROUND: Despite surgical and endovascular technical improvements over the last decades, the treatment of complex aneurysms of the distal anterior cerebral artery (ACA) is very challenging for both vascular neurosurgeons and interventional neuroradiologists. Furthermore, the interpersonal anatomic variability requires, most of the time, a tailored planning. OBJECTIVE: To describe a novel technique of bypasses in the territory of ACA to protect the brain territory distal to the aneurysm. METHODS: A 53-yr-old male with a large complex fusiform aneurysm of the left distal A2 segment of the ACA, involving the origin of the callosomarginal and pericallosal arteries, was judged not suitable for a single procedure (endovascular or neurosurgical). Two side-to-side bypasses were performed in a single surgery to connect the pericallosal and callosomarginal arteries of both sides, distally to the aneurysm. Subsequently, an endovascular embolization of the aneurysm was achieved with coils. RESULTS: The patency of the microanastomoses, performed in the anterior interhemispheric fissure, was positively evaluated intraoperatively with indocyanine green and fluorescein videoangiography. The aneurysm sac, together with proximal A2 segment, was completely occluded with platinum coils. At the last follow-up, computed tomography angiography confirmed the patency of both bypasses, without any sign of aneurysm recanalization. The patients never complained of any focal neurological deficits or worsening of clinical status. CONCLUSION: We present an elegant and innovative solution to completely protect the distal ACA territory in cases of complex aneurysm involving the origin of both callosomarginal and pericallosal arteries.

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.

BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular malformations characterized by clusters of enlarged leaky capillaries in the central nervous system. They may result in intracranial haemorrhage, epileptic seizure(s), or focal neurological deficits, and potentially lead to severe disability. Globally, CCMs represent the second most common intracranial vascular malformation in humans, and their familial form (FCCMs) accounts for one-fifth of cases. Neurosurgical excision, and perhaps stereotactic radiosurgery, is the only available therapeutic option. Case reports suggest that propranolol might modify disease progression. METHODS: Treat_CCM is a prospective, randomized, open-label, blinded endpoint (PROBE), parallel-group trial involving six Italian clinical centres with central reading of brain magnetic resonance imaging (MRI) and adverse events. Patients with symptomatic FCCMs are randomized (2:1 ratio) either to propranolol (40-80 mg twice daily) in addition to standard care or to standard care alone (i.e. anti-epileptic drugs or headache treatments). The primary outcome is intracranial haemorrhage or focal neurological deficit attributable to CCMs. The secondary outcomes are MRI changes over time (i.e. de novo CCM lesions, CCM size and signal characteristics, iron deposition, and vascular leakage as assessed by quantitative susceptibility mapping and dynamic contrast enhanced permeability), disability, health-related quality of life, depression severity, and anxiety (SF-36, BDI-II, State-Trait Anxiety Inventory). DISCUSSION: Treat_CCM will evaluate the safety and efficacy of propranolol for CCMs following promising case reports in a randomized controlled trial. The direction of effect on the primary outcome and the consistency of effects on the secondary outcomes (even if none of them yield statistically significant differences) of this external pilot study may lead to a larger sample size in a definitive phase 2 trial. TRIAL REGISTRATION: ClinicalTrails.gov, NCT03589014. Retrospectively registered on 17 July 2018.

Diagnosis of Ventriculoperitoneal Shunt Malfunction: A Practical Algorithm.

OBJECTIVE: This study aims to present a practical method to accurately diagnose ventriculoperitoneal shunt (VPS) malfunction and to detect the exact level at which the system has failed to tailor VPS revision at that level only. METHODS: A tertiary referral single-center algorithm for diagnosis of VPS malfunction is proposed. Based on clinical symptoms and confirmed ventricular dilatation on computed tomography, the VPS reservoir is punctured; if no cerebrospinal fluid is obtained, ventricular catheter replacement is recommended. Conversely, if cerebrospinal fluid is obtained, a sample is sent for cultural examination and the macroscopic integrity of the whole system is checked via plain radiography in the angiographic suite. Then, through the injection of iodate contrast medium into the reservoir and selective exclusion of the proximal and distal catheters, the patency and correct VPS functioning are investigated. RESULTS: A total of 102 (56 males) patients (mean age, 41.5 years; range, 1-86 years) underwent a VPS function test from 2012 to 2018: 59 cases of VPS malfunction (57.8%) were diagnosed. Ventricular catheter obstruction/damage/displacement occurred in 12/59 patients (20.3%), valve damage in 11/59 patients (18.6%), distal catheter obstruction/damage/displacement in 17/59 patients (28.8%) and 2-level (valve/proximal catheter or valve/distal catheter) obstruction/damage/displacement in 16/59 patients (27.1%). Subclinical infection was diagnosed in 3 patients (5.1%). VPS revision was performed selectively at the level of failure. CONCLUSIONS: The proposed algorithm is a practical, simple and minimally invasive technique to accurately diagnose VPS malfunction, identifying the exact level of system failure and allowing surgical VPS revision to be tailored, avoiding unnecessary complete system replacement.

Neurovascular Perfusion Study With DynaPBV During Preoperative Balloon Test Occlusion: A Feasibility Study on Aneurysm and Tumor Lesions.

To report feasibility, safety, and technical advantages of flat-detector computed tomography perfusion (FD-CTP) during balloon test occlusion (BTO) angiography studies, 10 patients patients scheduled for BTO were evaluated. Cerebral blood volume maps were extracted from FD-CTP images acquired during the test. The FD-CTP perfusion combined with BTO is feasible and safe in intracranial tumor, and aneurysm cases in which vessel sacrifice should be considered.

Correction: Sciacca, F. L., et al. Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. Int. J. Mol. Sci. 2018, 19, 3675.

The authors wish to make the corrections to this paper [...].

Indocyanine Green and Contrast-Enhanced Ultrasound Videoangiography: A Synergistic Approach for Real-Time Verification of Distal Revascularization and Aneurysm Occlusion in a Complex Distal Middle Cerebral Artery Aneurysm.

BACKGROUND: Distal outflow occlusion and extracranial-intracranial bypass represent a possible option for the surgical management of complex middle cerebral artery (MCA) aneurysm. A limitation of the distal clipping strategy combined to bypass is related to the difficulties in predicting intraoperatively the good blood flow supply to the brain territory distal to the aneurysm and the extent and speed of aneurysmal thrombosis. METHODS: We present an innovative approach in which contrast-enhanced ultrasound (CEUS) and indocyanine green videoangiography (ICG-VA) have been synergistically used to study the effect of distal clipping on the aneurysm flow and the parenchymal blood flow after the bypass. We used this approach in a patient harboring a fusiform, partially thrombosed distal left MCA aneurysm. RESULTS: The patient was treated by a superficial temporal artery-MCA bypass, followed by MCA clipping immediately distally to the aneurysm. ICG-VA was used to evaluate bypass patency and brain perfusion in the area supplied by the bypass. CEUS was used to confirm the characteristics of the aneurysm and to explore the proximal MCA compartment immediately after dural opening, and to verify in real time the effect on aneurysm flow determined by distal outflow occlusion. Postoperative imaging confirmed aneurysm occlusion and patency of the bypass. The patient did not experience any neurologic sequelae. CONCLUSIONS: We present the first report of a synergistic intraoperative utilization of ICG-VA and CEUS in studying parenchymal perfusion and aneurysm flow in complex neurovascular procedures.

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.

BACKGROUND: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results. METHODS: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies. RESULTS: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4% females) have been collected so far. 65.3% of patients presented ischemic (50%) and haemorrhagic (15.3%) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed. CONCLUSION: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy.

Treatment of intracranial aneurysms using the pipeline flex embolization device with shield technology: angiographic and safety outcomes at 1-year follow-up.

PURPOSE: The Pipeline Embolization Device (PED) is a routine first-line treatment option for intracranial aneurysms (IAs). The Pipeline Flex Embolization Device with Shield Technology (Pipeline Shield) is an updated version of the PED which has been modified to include a surface phosphorylcholine biocompatible polymer. Its early technical success and safety have been reported previously. Here, we assessed the long-term safety and efficacy of the Pipeline Shield for the treatment of IAs. MATERIALS AND METHODS: The Pipeline Flex Embolization Device with Shield Technology (PFLEX) study was a prospective, single-arm, multicenter study for the treatment of unruptured IAs using the Pipeline Shield. The primary endpoint was a major stroke in the territory supplied by the treated artery or neurologic death at 1-year post-procedure. Angiographic outcomes were also assessed by an independent radiology laboratory at 6 months and 1 year. RESULTS: Fifty patients (mean age, 53 years; 82% female) with 50 unruptured IAs were treated. Mean aneurysm diameter was 8.82±6.15 mm. Of the target aneurysms, 38/50 (76%) were small (<10 mm), 11/50 (22%) were large (≥10 and<25 mm), and 1/50 (2%) was giant (≥25 mm). Forty-seven (94%) were located in the internal carotid artery and three (6%) in the vertebral artery. At 1-year post-procedure, no major strokes or neurologic deaths were reported, and complete occlusion was achieved in 27/33 (81.8%). There were no instances of aneurysm recurrence or retreatment. CONCLUSIONS: Our 1-year follow-up concerning angiographic and safety outcomes corroborate previous evidence that the Pipeline Shield is a safe and effective treatment for IAs. TRIAL REGISTRATION NUMBER: NCT02390037.

Developmental venous anomaly as a rare cause of obstructive hydrocephalus.

Developmental venous anomalies (DVA), previously known as cerebral venous malformations or venous angiomas, are common benign entities often incidentally discovered at MRI examinations. They are non­pathologic variants of normal deep parenchymal veins that are usually asymptomatic, but they can rarely cause some complications. In this paper we described a rare case of obstructive hydrocephalus caused by a DVA located within the cerebral aqueduct and we also reviewed the previous literature on this topic. A 37­year­old man was diagnosed with symptomatic tri­ventricular hydrocephalus that during the last year caused episodes of ictal headaches accompanied by vertigo, diaphoresis and lipothimic events. The MRI and the angiography showed the presence of a large collector vein coursing within the aqueduct, which was part of a complex DVA in the posterior fossa, responsible for the aqueductal stenosis and obstructive hydrocephalus. The patient was submitted to endoscopic third ventriculostomy (ETV) and then he had a complete resolution of symptoms. A literature review was performed through Medline Pubmed on papers published in English from 1937 to 2015 with the following key words: DVA, obstructive hydrocephalus, acqueductal stenosis, venous angioma, venous malformation, medullary malformation. Including our case, the literature research identified 16 reports in the Medline database for 18 patients presenting with obstructive hydrocephalus caused by a DVA including our case. In approximately 60% (10/17) of cases, the stenosis causing obstructive hydrocephalus was present in the cerebral aqueduct. The floor of the IV ventricle and the third ventricle were the second most common locations and DVAs were identified in 20% of cases (3/17) for each of these regions. In the remaining case the venous malformation was found in the Foramen of Monro. Clinical presentation before diagnosis lasted on average 23 months ranging from 1 month to 7 years. The mean age at diagnosis was 27 (range 3 days- 58 years). The most common presenting symptom was persistent headache, representing a major complaint in 80% of cases (12/15). In 78% (14/18) of cases MRI was crucial in the diagnosis. ETV was performed in 47% (8/17) of patients, whereas no treatment or clinical follow­up was required in 18% (3/17) and VP Shunt in 12% (2/17) of cases. Instead, VA shunt, transcallosal approach and acqueductal stenting were performed in one patient each, corresponding singularly to 6% (1/17) of all cases. Despite the fact that DVAs are asymptomatic, they may rarely cause obstructive hydrocephalus because of impairment in the CSF flow. They should be considered in the differential diagnosis of any patient presenting with obstructive hydrocephalus. ETV has been demonstrated as an effective treatment option in the management of obstructive hydrocephalus due to a DVA.

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome.

Moyamoya angiopathy (MA) is a cerebrovascular disease determining a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and their proximal branches and the compensatory development of abnormal "moyamoya" vessels. MA occurs as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes) including several heritable conditions such as Down syndrome, neurofibromatosis type 1 and other genomic defects. Although the mechanism that links MA to these genetic syndromes is still unclear, it is believed that the involved genes may contribute to the disease susceptibility. Herein, we describe the case of a 43 years old woman with bilateral MA and peculiar facial characteristics, having a 484-kb microduplication of the chromosomal region 15q13.3 and a previously unreported 786 kb microdeletion in 18q21.32. This patient may have a newly-recognized genetic syndrome associated with MA. Although the relationship between these genetic variants and MA is unclear, our report would contribute to widening the genetic scenario of MA, in which not only genic mutation, but also genome unbalances are possible candidate susceptibility factors.