Project description:We report auricular ossification (AO) affecting the elastic cartilage of the ear as a newly recognized feature of osteoprotegerin (OPG)-deficiency juvenile Paget disease (JPD). AO and auricular calcification refer interchangeably to rigid pinnae, sparing the ear lobe, from various etiologies. JPD is a rare Mendelian disorder characterized by elevated serum alkaline phosphatase activity accompanied by skeletal pain and deformity from rapid bone turnover. Autosomal recessive transmission of loss-of-function mutations within TNFRSF11B encoding OPG accounts for most JPD (JPD1). JPD2 results from heterozygous constitutive activation of TNFRSF11A encoding RANK. Other causes of JPD remain unknown. In 2007, we reported a 60-year-old man with JPD1 who described hardening of his external ears at age 45 years, after 4 years of treatment with bisphosphonates (BPs). Subsequently, we noted rigid pinnae in a 17-year-old boy and 14-year-old girl, yet pliable pinnae in a 12-year-old boy, each with JPD1 and several years of BP treatment. Cranial imaging indicated cortical bone within the pinnae of both teenagers. Radiologic studies of our three JPD patients without mutations in TNFRSF11B showed normal auricles. Review of the JPD literature revealed possible AO in several reports. Two of our JPD1 patients had experienced difficult tracheal intubation, raising concern for mineralization of laryngeal elastic cartilage. Thus, AO is a newly recognized feature of JPD1, possibly exacerbated by BP treatment. Elastic cartilage at other sites in JPD1 might also ossify, and warrants investigation.
Project description:A 68-year-old woman presented with segmental aplasia of bilateral internal carotid arteries accompanied by unruptured intracranial aneurysms. The abnormality was discovered incidentally at the age of 44 years. Cerebral angiography showed occlusion of bilateral internal carotid arteries, and the carotid territory was supplied by each posterior communicating artery with small intracranial aneurysms. Endovascular treatment for the intracranial aneurysms was planned. However, the patient did not want to undergo the endovascular procedure because of the increased risk due to the associated bilateral carotid abnormalities. Cerebral angiography was performed again at the age of 66 years, and the size of the aneurysms had not changed. Based on their segmental identity, aplasia of segment 6 of the internal carotid artery (ICA) including the first portion of the ophthalmic artery was observed bilaterally.
Project description:Flow diverter devices have gained wide acceptance for the treatment of unruptured intracranial aneurysms. Most studies are based on the treatment of large aneurysms harboring on the carotid syphon. However, during the last years the "off-label" use of these stents has widely grown up even if not supported by randomized studies. This review examines the relevant literature concerning "off-label" indications for flow diverter devices, such as for distal aneurysms, bifurcation aneurysms, small aneurysms, recurrent aneurysms, and direct carotid cavernous fistulas.
Project description:Congenital absence of the internal carotid artery is a rare occurrence. Even more infrequent are cases where the patient has a bilateral absence of the internal carotid arteries. Reported is a case of a 52-year-old woman who presented with optic nerve neuropathy, and was incidentally discovered to have a congenital bilateral absence of her internal carotid arteries. During computed tomography angiography imaging looking for cerebral venous thrombosis, related to her preexisting condition of bilateral elevated optic discs and residual left optic neuropathy, the findings were made. The absence of the arteries is not always recognizably symptomatic, with most findings being incidental through imaging studies only. This is because collateral flow allows for sufficient cerebral circulation. However, this condition puts such patients at higher risk for conditions such as aneurysms and subsequently strokes where the collateral flow exists.
Project description:We report a clinical case of spontaneous bilateral carotid-cavernous fistulas. Bilateral pulsatile exophthalmos and symmetric cavernous sinuses detected by CT scan helped to suspect the diagnosis. Arteriography confirmed the diagnosis. The patient underwent embolization with favorable neurologic and ophthalmic evolution. Carotid-cavernous fistula is a rare but severe complication associated with a poor functional (blindness) and vital (meningeal and intracerebral hemorrhage) prognosis. The concomitant use of arteriography and embolization has considerably improved the prognosis.
Project description:Objectives Despite advances in neuroimaging, it is not always definitive whether a paraclinoid aneurysm is intradural or entirely extradural. We illustrate the potential use of surgical exploration in these aneurysms that we refer to as "junctional" aneurysms. Methods Retrospective review of eight patients with unruptured aneurysms who underwent a planned surgical exploration of a junctional aneurysm. Results Of the eight patients, three underwent exploration of the aneurysm during surgery for a different aneurysm. All three of these were found to be extradural. Five patients underwent a craniotomy for the exclusive purpose of clarifying the location of the aneurysm. Two of these cases were found to be intradural and were clipped. Two cases were found to be extradural. In one patient, the initially extradural aneurysm was converted into an intradural aneurysm during removal of the anterior clinoid process, necessitating surgical clipping. One transient third nerve palsy was observed. Discussion Until further progress in neuroimaging allows clinicians to determine unequivocally the exact anatomical location of a paraclinoid aneurysm, we advocate the use of the term junctional aneurysm to reflect the clinical uncertainty inherent in management decisions made regarding these aneurysms. We have illustrated a strategy of surgical exploration in select patients.
Project description:Abdominal aortic aneurysms (AAAs), which commonly occur among elderly individuals, are accompanied by a risk of rupture and subsequent high mortality. Establishment of medical therapies for the prevention of AAAs requires further understanding of the molecular pathogenesis of this condition. This report details the possible involvement of Osteoprotegerin (OPG) in the prevention of AAAs through inhibition of Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL). In CaCl2-induced AAA models, both internal and external diameters were significantly increased with destruction of elastic fibers in the media in Opg knockout (KO) mice, as compared to wild-type mice. Moreover, up-regulation of TRAIL expression was observed in the media by immunohistochemical analyses. Using a culture system, both the TRAIL-induced expression of matrix metalloproteinase-9 in smooth muscle cells (SMCs) and the chemoattractive effect of TRAIL on SMCs were inhibited by OPG. These data suggest that Opg may play a preventive role in the development of AAA through its antagonistic effect on Trail.
Project description:Arterial dissection is an important cause of stroke in young patients. Various factors influencing arterial dissection included amphetamine abuse and anterior circulation is the majority of stroke locations. We reported the Case of a 40-year-old male patient with chronic amphetamine used since childhood. He had increased the consumption from once a month to every other day in the last year. The patient suffered from acute left-side hemiparesis and neglect. Computed tomography angiography of the brain and neck vessels demonstrated non-atheromatous vasculopathy with a suspected dissection process of the right internal carotid artery and bilateral vertebral arteries. A review of recent data is also provided to clarify the possible mechanism.
Project description:Background:The development of carotid-cavernous fistulas (CCFs) during surgical recanalization of chronic internal carotid artery occlusion (ICAO) may be secondary to severe ICA dissection rather than a focal tear of the cavernous ICA seen in typical traumatic CCFs. The purpose of this study is to investigate the causal relationship between the CCFs and severe ICA dissections and to characterize technical outcomes after treatment with stenting. Methods:Five patients underwent treatment with self-expanding stents due to intraprocedural CCF and ICA dissection following surgical removal of ICAO plaque. The stents were telescopically placed via true channel of the dissection. Safety of the procedure was evaluated with 30-day stroke and death rate. Procedural success was determined by the efficacy of CCF obliteration and ICAO recanalization with angiography. Results:All CCFs were associated with spiral and long segmental dissection from the cervical to cavernous ICA. After stenting, successful dissection reconstruction with TICI 3 was achieved in all patients, with complete (n = 4) or partial CCF (n = 1) obliteration. No patient had CCF syndrome, stroke, or death during follow-up of 6 to 37?months; but one patient had pulsatile tinnitus, which resolved 1 year later. Angiography at 6 to 24?months demonstrated CCF obliteration in all 5 patients and durable ICA patency in 4 patients. Conclusions:Intraprocedural CCFs with spiral and cervical-to-cavernous ICA dissection during ICAO surgery are dissection-related because of successful obliteration after stenting for dissection reconstruction. Self-expanding stenting through true channel of the dissection, serving as implanting stent-autograft, may be an optimal therapy for the atypical CCF complication from ICAO surgery.