Clinical and angioarchitectural factors influencing the endovascular approach to galenic dural arteriovenous fistulas in adults: case series and review of the literature.

BACKGROUND: Galenic dural arteriovenous fistulas (DAVF) are rare; however, they are the most frequent type of DAVF to manifest aggressive clinical behavior and usually represent a diagnostic and therapeutic challenge for clinicians. METHODS: We retrospectively reviewed clinical and imaging data of patients managed with neuroendovascular techniques for the treatment of galenic DAVFs from 2000 to 2016. We searched the 2000-2016 English-language literature for papers discussing neuroendovascular management of galenic DAVFs, with or without companion surgical procedures. RESULTS: Five patients were treated for galenic DAVFs during the study period (four males; mean age, 61 years). Three presented with progressive neurological deterioration due to venous congestion, two with acute intracranial hemorrhage. Three were treated by staged transarterial embolization procedures (three procedures in two, four procedures in one); two underwent a single transvenous embolization procedure. Four out of five fistulas were completely occluded. All patients improved clinically; the patient whose fistula was partially occluded remains angiographically stable at 2-year follow-up. Six reports describing 17 patients are reviewed. Embolization was performed via transvenous approach in 1/17 and transarterial approach in 16/17 with additional open surgery in 9/16. The trend toward the use of transarterial approaches is based primarily on advances on embolization techniques that allow better and more controllable penetration of the embolizing agents with improved clinical and angiographic results, as well as the technical complexity of the transvenous approach. CONCLUSIONS: Although transarterial embolization is the preferred endovascular route for the management of most galenic DAVFs, selected cases can be successfully treated by transvenous approach.

Influence of common fixed retainers on the diagnostic quality of cranial magnetic resonance images.

INTRODUCTION: Orthodontists are often asked to remove fixed retainers before magnetic resonance imaging (MRI). This study was undertaken to assess the effects of 2 commonly used fixed retainers on MRI distortion and whether they should be removed. METHODS: MRI scans were performed on a dry skull with Twistflex (Dentaurum, Ispringen, Germany) and Ortho Flex Tech (Reliance Orthodontic Products, Itasca, Ill) retainers. Two neuroradiologists independently ranked the distortions. The influence of the fixed retainers' alloys, their distance to the area of diagnosis, location, strength of the magnetic field, and the spin-echo sequence were examined. Statistical analysis included kappa and Pearson chi-square tests. RESULTS: Ortho Flex Tech retainers caused no distortion. Twistflex retainers caused distortion in 46% of the tests in areas close to the retainer (tongue and jaws). Maxillary fixed retainers and the combination of maxillary and mandibular fixed retainers further increased the distortion. Greater distortion was observed with 3-T magnetic fields and T1-weighted spin-echo sequences. CONCLUSIONS: Removal of the Ortho Flex Tech retainer is unnecessary before MRI. Removal of the Twistflex should be considered if the MRI scans are performed to diagnose areas close to the fixed retainers, when 3-T magnetic fields and T1-weighted sequences are used, and when both maxillary and mandibular fixed retainers are present.

Endovascular treatment of distal anterior cerebral artery aneurysms using flow modulation devices: mid- and long-term results from a two-center study.

Purpose: Flow-diverter (FD) stents have become an established treatment for intracranial aneurysms in recent years, but their use for aneurysms in distal cerebral vessels with small carrier vessel diameters remains controversial. This study describes the method and mid- and long-term outcomes of FD treatment of distal anterior cerebral artery aneurysms (DACAAs) at two neurointerventional centers, to elucidate this topic and provide more in-depth data. Methods: Data for all patients at two neurointerventional centers who were treated with FDs for DACAAs in the pericallosal and supracallosal segment of the anterior cerebral artery were retrospectively analyzed. Data on periprocedural complications, and short-, mid- and long-term follow-up findings were recorded. Results: Forty-one patients were eligible for inclusion in the study. Three FD models were used, one of which had an anti-thrombotic coating. Two periprocedural complications (5%) occurred but did not cause a change in the mRS. In the long-term follow-up, at 29 months and beyond, 83% of assessable patients showed complete occlusion of the aneurysms without new neurological deficits. Conclusion: FDs are a safe and effective treatment approach for DACAAs. This study indicated a low risk of complications, and high closure rates in short-, mid- and long-term follow-up.

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal and renal involvement. Brain MRI results show cerebellar vermis hypoplasia and additional anomalies of the fourth ventricle, corpus callosum, and occipital cortex. The disease has previously been mapped to the centromeric region of chromosome 11. Using homozygosity mapping in 13 patients from eight Ashkenazi Jewish families, we identified a homozygous mutation, R12L, in the TMEM216 gene, in all affected individuals. Thirty individuals heterozygous for the mutation were detected among 2766 anonymous Ashkenazi Jews, indicating a carrier rate of 1:92. Given the small size of the TMEM216 gene relative to other JBTS genes, its sequence analysis is warranted in all JBTS patients, especially those who suffer from associated anomalies.

ANCA-associated refractory vasculitis with multiple systemic involvement: A rare case report.

We report the case of a 65 year old female patient, presenting with a combination of bilateral hearing loss, otalgia, and hyperacusis. Pure tone audiometry revealed mixed bilateral hearing loss. Conventional cranial imaging tests failed to show a significant brain pathology, but fat-suppressed T1-weighted gadolinium-enhanced magnetic resonance imaging scan displayed a diffuse infiltrative skull base process, extending from the nasopharynx to the jugular fossa, and encasing the internal carotid artery. The latter findings, besides elevated inflammatory markers and a positive perinuclear anti-neutrophil cytoplasmic antibody (p-ANCA) led to the diagnosis of ANCA-associated vasculitis. Additional disease manifestations sequentially appeared, including a right peripheral nerve palsy, aortitis, hepatitis, peripheral neuropathy, and uveitis. Therapy with corticosteroids, azathioprine, and then cyclophosphamide brought no evident benefit, but rituximab led to impressive clinical and radiologic improvement.

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Myelination is a complex, developmentally regulated process whereby myelin proteins and lipids are coordinately expressed by myelinating glial cells. Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene. FA2H encodes the enzyme fatty acid 2-hydroxylase that catalyzes the 2-hydroxylation of myelin galactolipids, galactosylceramide, and its sulfated form, sulfatide. To our knowledge, this is the first identified deficiency of a lipid component of myelin and the clinical phenotype underscores the importance of the 2-hydroxylation of galactolipids for myelin maturation. In patients with autosomal-recessive unclassified leukodystrophy or complex spastic paraparesis, sequence analysis of the FA2H gene is warranted.

Carotid Artery Stenting in Patients with Atrial Fibrillation: Direct Oral Anticoagulants, Brief Double Antiplatelets, and Testing Strategy.

Carotid endarterectomy is usually preferred over carotid artery stenting (CAS) for patients with atrial fibrillation (AF). We present our experience with short-course periprocedural triple antithrombotic therapy in 32 patients aged >18 years with nonvalvular AF undergoing CAS. There were no deaths, cardiac events, embolic strokes, hyperperfusion syndrome, intracranial hemorrhage, or stent thrombosis within 30 days. Transient intraprocedural hemodynamic instability in 15/32 (47%) and prolonged instability in 4/32 (13%) was managed conservatively. At a mean 16-month follow-up, there were no new neurological events or deterioration. Mean stenosis was reduced from 78.0% ± 9.7% to 17.3% ± 12.2%. This retrospective study included patients AF who were symptomatic (minor stroke (NIHSS ≤ 5)/TIA) with ICA stenosis >50%, or asymptomatic under DOAC therapy with carotid stenosis >80%, who underwent CAS from 6/2014-10/2020. Patients received double antiplatelets and statins. Antiplatelet therapy effectiveness was monitored. Stenting was performed when P2Y12 reaction units (PRU) were <150. DOACs were discontinued 48 h before angioplasty; one 60 mg dose of subcutaneous enoxaparin was administered in lieu. DOAC was restarted 12-24 h after intervention. Patients were discharged under DOAC and one nonaspirin antiplatelet. 32 patients on DOAC were included (26 male, mean age 71). 19 (59.4%) presented with stroke (ICA stenosis-related in 14); 13 (40.6%) were asymptomatic. Stents were deployed under filter protection following pre-angioplasty; post-angioplasty was performed at least once in 12 patients (37.5%). Our experience suggests that CAS can be safely performed in selected patients with CAS and AF requiring DOAC. The role of CAS in AF patients under DOAC warrants study in rigorous trials.

Standalone Flow Diversion Therapy Effectively Controls Rebleeding of Acutely Ruptured Internal Carotid Artery Trunk (Nonbranching) Microaneurysms.

Flow diversion is a promising option in selected patients with acutely ruptured microaneurysms. In this article, we reviewed our experience. Patients with acute spontaneous subarachnoid hemorrhage (SAH) after rupture of a blister-like or saccular microaneurysm (≤2 mm maximal diameter) at a nonbranching ICA site treated from January 2016 to June 2019 using flow diversion as standalone therapy were included in this study. An EVD was usually placed preventively. Antiplatelet effects of pre-procedure DAPT were evaluated (target PRU, 80-160). After the intervention, DAPT was continued for ≥6 months, aspirin-indefinitely. Angiographic controls were obtained. Fifteen patients (12 female; mean age, 46.4 years) with 15 ruptured ICA microaneurysms (mean diameter, 1.8 mm) were included. An EVD was placed in 12 patients (75%) before DAPT administration and stenting. PRU values immediately before FDS were 1-134 (mean, 72.1). One patient died 27 days after flow diversion due to a suspected fulminant pulmonary embolism. Aneurysms were completely occluded at the 6-12-month angiographic follow-up in 14/14 surviving patients, with no rebleeding at a mean of 14 months. Late mRS was 0-2 in 13/14 patients and 3 in one due to sequelae of the original hemorrhage. Flow diversion provided robust aneurysm rebleeding control. Angiographic follow-up confirmed complete aneurysm occlusion in all the cases.

Complete and persistent occlusion of arteriovenous malformations of the mandible after endovascular embolization.

OBJECTIVE: Arteriovenous malformation (AVM) of the mandible is a rare but potentially life-threatening entity. Traditional treatment involved complex surgical procedures that usually failed to completely cure the malformation without disfigurement and functional difficulties. We report our experience in transarterial and transvenous embolizations of mandibular AVMs using different embolization agents and discuss the potential use of Onyx and new detachable-tip microcatheters. CLINICAL PRESENTATION: Patients presented with progressive mandibular swelling, pain, soft-tissues discoloration and dental misalignment with tooth loosening. INTERVENTION: The AVMs were completely and persistently occluded by endovascular transarterial and transvenous approaches. CONCLUSION: Less invasive endovascular approaches proved to be highly effective in curing certain types of mandibular AVMs. Every malformation requires a tailored endovascular strategy in terms of approach and selection of an embolizing agent.

The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

In two patients who presented at late infancy with hypotonia, nystagmus and ataxia, interspersed with acute episodes of encephalopathy, we identified a mutation in a complex I assembly factor, NDUFA12L, which resulted in a marked reduction of the NDUFA12L protein and of complex I activity. The involvement of the mamillothalamic tracts, substantia nigra/medial lemniscus, medial longitudinal fasciculus, the corpus medullare and the cerebellum, with relative sparing of the cortex and subcortical white matter was distinctive and resembled the findings in the first and only known patient with mutation in the NDUFA12L gene.

Prenatal thrombosis of torcular Herophili with spontaneous resolution and normal outcome.

BACKGROUND: Prenatal thrombosis of torcular Herophili is a rare condition. It may be suspected during the routine ultrasonographic follow-up of the fetus, but MRI is necessary to establish the diagnosis. There are 7 reported cases with various results. METHODS: We report a case of prenatal torcular Herophili thrombosis. We present 2 series of fetal MRIs. The first one was performed at 21 and the second at 37 weeks' gestation. RESULTS: The second MRI revealed a total resolution of the thrombus. The product was a neurologically intact infant with normal development. CONCLUSIONS: This is the fourth reported case of fetal torcular Herophili thrombosis with normal outcome. There are no sufficient data regarding the best management of this rare condition; however, following up with fetal MRIs seems to be the most rational choice.

Neurological variability in chemotherapy-induced posterior reversible encephalopathy syndrome associated with thrombotic microangiopathy: Case reports and literature review.

Posterior reversible encephalopathy syndrome (PRES) is a clinical syndrome characterized by headaches, seizures, a confusional state and visual disturbances associated with transient predominantly bilateral posterior white mater magnetic resonance imaging lesions. It is primarily reported in the setting of hypertension, acute renal failure, peripartum eclampsia, autoimmune disease, immunosuppression and chemotherapy. Thrombotic microangiopathy (TMA), including hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP) has also been reported as potential PRES inducer. The present study reviews two cases of patients with PRES, associated with TMA caused by chemotherapy. Their clinical and imaging data, and the relevant literature were reviewed. Patient 1 presented with TMA-induced PRES following mitomycin-C for metastatic colon adenocarcinoma. Treatment with steroids, plasma exchange, intravenous immunoglobulins, aspirin, antihypertensive drugs, and diuretics resulted in resolution of the neurological and imaging deficits. Patient 2 presented with TMA-induced PRES following gemcitabine for metastatic breast carcinoma. Treatment was ineffective and the patient deteriorated despite verapamil, dexamethasone, and plasma exchange. In this report, the relevant literature regarding pathogenesis, treatment and prognosis of chemotherapy-induced PRES associated with TMA was reviewed. We conclude that several chemotherapy agents may cause PRES through various pathogenic mechanisms, leading to clinical variability and divergent response to therapy.

Spontaneous thrombosis of cerebral aneurysms presenting with ischemic stroke.

Complete spontaneous thrombosis of an unruptured cerebral aneurysm is a rare event that can be discovered incidentally on advanced neuroradiologic studies. Occasionally, this phenomenon may be symptomatic and can present as an ischemic stroke. The presumed mechanism is probably due to extension of the thrombi to the parent vessel, embolization of intra-aneurysmatic thrombi to distal arteries or arterial compression due to increased aneurysm mass effect. We present documented cases of this unusual entity and review the literature.

Sandfly virus seroconversion associated with neurologic presentation.

OBJECTIVE: To describe the clinical presentation and unique neurologic manifestations of sandfly viruses (SFVs) in the Jerusalem area. METHODS: We identified all patients with acute seroconversion to SFV at the Hadassah-Hebrew University Medical Centers during the years 2008-2013 and retrospectively collected and analyzed the clinical and imaging data. RESULTS: Nine patients (ranging from 1.5 to 85 years old) were identified. Presentation included acute neurologic disease, mostly with fever, change in consciousness and behavior, seizures, headache, meningitis, limb paresis, or myelitis. Eight patients had clinical signs of meningitis, meningoencephalitis, or encephalitis alone. Four patients had myelitis. MRI identified pathologic symmetrical changes in the basal ganglia, thalami, and other deep structures in 5 patients, and additional myelitis of the spine was noted on imaging in 3 patients. Seven patients had long-term follow-up: 4 completely recovered and 3 had remaining neurologic sequelae, among them 1 with permanent severe brain damage. CONCLUSION: Neurologic involvement associated with acute SFV infections is considered to be benign. However, in this series, all 9 patients presented with significant neurologic pathology associated with a unique finding of myelitis and symmetrical basal ganglia, thalami, or white matter involvement. Thus, acute SFV infection should be included in the differential diagnosis in febrile onset of neurologic manifestations and neuroradiologic changes.

Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.

Identification of CD59 p.Cys89Tyr mutation in 5 patients from North-African Jewish origin presenting with chronic inflammatory demyelinating polyradiculoneuropathy like disease and chronic hemolysis, led us to reinvestigate an unsolved disease in 2 siblings from the same origin who died 17 years ago. The two patients carried the same CD59 gene mutation previously described by our group. These children had quiet similar disease course but in addition developed devastating recurrent brain infarctions, retinal and optic nerve involvement. Revising the brain autopsy of one of these patients confirmed the finding of multiple brain infarctions of different ages. CD59 protein expression was missing on brain endothelial cells by immunohistochemical staining. This new data expands the clinical spectrum of CD59 mutations and further emphasizes the need for its early detection and treatment.

Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.

BACKGROUND: Frontotemporal dementia with parkinsonism linked to chromosome 17q21-22 (FTDP-17) is an autosomal dominant tauopathy manifested by a variable combination of personality changes, cognitive decline and hypokinetic-rigid movement disorder. Significant clinical and pathological heterogeneity of FTDP-17 is related in part to more than 20 different pathogenic mutations identified in the tau gene. Among others, the P301S mutation has been previously reported in three families of European and one of Japanese origin presenting with different clinical phenotypes. OBJECTIVES: To report a three-generation family of Jewish-Algerian origin with FTDP-17 due to the P301S tau mutation. METHODS: Clinical, neuropsychological and neuroimaging evaluation of 3 patients, tau genotyping, and pathological study of the proband. RESULTS: The 3 affected family members had a fairly stereotyped clinical course with early personality changes from their late 30s followed within a period of 1-2 years by a progressive cognitive and motor deterioration eventually leading to a state of akinetic mutism or death 3-5 years after the initial symptoms. The main clinical manifestations included severe dementia and hypokinetic-rigid movement disorder associated with supranuclear gaze impairment, pyramidal signs and frontal release signs. Brain imaging disclosed a variable degree of frontotemporal atrophy, ventriculomegaly and regional cerebral hypoperfusion or glucose hypometabolism. Frontal lobe biopsy in the proband revealed weak tau immunoreactivity in a few cortical neurons, in rare neurites and in some glial cells with no neurofibrillary tangles. Molecular DNA analysis identified a P301S mutation in exon 10 of the tau gene. CONCLUSIONS: The observed clinical features further expand the reported P301S phenotype and confirm a more aggressive course of the disease than in the other known tau mutations.

Endovascular management of spontaneous bilateral symptomatic vertebral artery dissections.

Extracranial vertebral artery (VA) dissection may lead to significant arterial stenosis, occlusion, or pseudoaneurysm formation with subsequent hemodynamic and embolic infarcts. To prevent thromboembolic complications, anticoagulation with intravenous heparin followed by oral warfarin has been recommended for all patients with acute dissections, regardless of the type of symptoms. Nevertheless, anticoagulation is not innocuous and may be associated with hemorrhagic transformation of a cerebral infarction or may be ineffective to prevent symptoms or dissection progression. We present a case of a bilateral spontaneous extracranial VA dissection presenting with multiple embolic infarctions. The dominant VA was reconstructed with multiple in-tandem stents and the contralateral VA, proved to be the source of emboli, was occluded with coils. Stent-assisted VA angioplasty has rarely been reported in the management of spontaneous dissections and appears to be a safe, effective and immediate method of restoring vessel lumen integrity and should be considered in the therapy of selected cases of VA dissection.

Endovascular management of symptomatic vertebral artery dissection achieved using stent angioplasty and emboli protection device.

Extracranial vertebral artery (VA) dissection may lead to significant arterial stenosis, occlusion, or pseudoaneurysm formation with subsequent hemodynamic and embolic infarcts. To prevent thromboembolic complications, anticoagulation with intravenous heparin followed by oral warfarin has been recommended for all patients with acute dissections, regardless of the type of symptoms, unless there are contra-indications. Nevertheless, anticoagulation is not innocuous, may be contra-indicated or may be ineffective to prevent symptoms or dissection progression. Because it is effective and less invasive than other surgical procedures, endovascular treatment of VA dissection has recently attracted interest. We present a case of a traumatic VA dissection, presenting with multiple embolic infarctions that was managed with protected stent-assisted angioplasty. Protected stent-assisted VA angioplasty has not been previously reported and appears to be a safe, effective and immediate method of restoring vessel lumen integrity and should be considered in the therapy of selected cases of VA dissection.

Carotid stent angioplasty: the role of cerebral protection devices.

Carotid endarterectomy has been validated with results of several randomized controlled trials in which its effectiveness has been demonstrated over that of the best nonsurgical therapy. However, in the past several years, carotid angioplasty with stent placement has emerged as a potential safe and effective alternative to carotid endarterectomy. In this article we examine the current status of carotid angioplasty with the recent introduction of innovative cerebral protection devices and improved endovascular devices. We present a brief description of the current randomized trials evaluating carotid endarterectomy compared to carotid angioplasty as well as our combined experience in 262 patients.