Project description:The pathophysiology of giant cerebral aneurysms renders them difficult to treat. Advances in technology have attempted to address any shortcomings associated with open surgery or endovascular therapies. Since the introduction of the flow diversion technique, the endovascular approach with flow diversion has become the first-line modality chosen to treat giant aneurysms. A subset of these giant aneurysms may persistent despite any treatment modality. Perhaps the best option for these recurrent and/or persistent giant aneurysms is to employ a multimodal approach-both surgical and endovascular-rather than any single technique to provide a curative result with favourable patient outcomes. This paper provides a review of the histopathology and treatment options for giant cerebral aneurysms. Additionally, an illustrative case is presented to highlight the unique challenges of a curative solution for giant cerebral aneurysms that persist despite initial treatment.
Project description:Giant aneurysm of the posterior circulation is associated with a higher risk of rupture compared with that of the anterior circulation. Furthermore, surgical clipping and interventional embolization for giant aneurysm of the posterior circulation are more difficult and complex to perform. The present study reported on the case of a 26-year-old female who exhibited a giant spherical aneurysm of the vertebrobasilar junction (VBJ) with a maximum diameter of ~35 mm that caused cervical discomfort. In addition, the patient experienced symptoms including left-sided walking and hoarseness caused by the compression of the brainstem and the posterior cranial nerves. The risks associated with performing surgery in this area are high and the prognosis is mainly poor. The patient of the present study was treated using the Pipeline Flex device with coil embolization. As a giant aneurysm of the VBJ simultaneously affects the bilateral vertebral arteries (VAs) and basilar artery, it is a unique condition and the treatment strategy must be personalized. Based on an analysis of the hemodynamic influence on the aneurysm in the present case, the Pipeline was placed through the left VA, the coils were packed through the right VA, and finally, the right VA was proximally occluded. At 7 months after embolization, the patient's modified Rankin scale score was 1 point. Upon analysis of the hemodynamic influence on the aneurysm of the VBJ, the VA with the larger shear force on the wall of the aneurysm was selected for occlusion to simplify the treatment of the aneurysm and to maximize the probability to achieve recovery.
Project description:Lemierre's syndrome has been shown to be increasing in incidence in the past 20 years with one popular suggesting that said rise occurred from less aggressive antibacterial coverage. We report a case of Lemierre's syndrome and also reviewed the 15 most recent case reports. A previously healthy 25 year old male who initially developed sore throat and flu-like symptoms, was prescribed antibacterials as an outpatient but was hospitalized for worsening symptoms. He was later diagnosed with Lemierre's syndrome and improved clinically with IV antimicrobials alone. From our concise literature review, we determined that a decrease in antibiotic prescriptions may not fully explain why the incidence of Lemierre's has been increasing. Thus, future research should be focused in evaluating possible worsening susceptibilities to antibiotics and improvements on detection. We also advise physicians to be aware of the signs and symptoms of this rare but potentially fatal condition as well as the available detection methods and treatment.
Project description:Coronary artery fistula is an abnormal vascular communication of coronary artery with cardiac chambers or any segment of the systemic or pulmonary circulation. The prevalence is 0.9% of all coronary anomalies. Coronary artery fistula arises from the right coronary artery in approximately 50.0% of patients, from left coronary artery in approximately 42.0% of patients, and from both in approximately 5.0% of patients. Low-pressure structures are the most common sites of drainage of the coronary fistulas. If a large left-to-right shunt exists, it can be associated with potential complications, such as arterial aneurysm. Here we report an extremely rare case of a 76-year-old woman with bilateral coronary-to-pulmonary artery fistulas associated with giant aneurysms, detected by coronary angiography and confirmed with coronary computed tomography.
Project description:Bilateral adrenal hemorrhage (BAH) is a rare but potentially fatal entity that carries a mortality rate of 15%. Most cases are associated with sepsis, antiphospholipid syndrome, the use of anticoagulants, as well as trauma and surgery. In this case report, we present a case of BAH in a previously healthy man with a recent history of corticosteroid use. Our case emphasizes the ambiguous clinical presentation of BAH, which poses a challenge in the establishment of a correct diagnosis. We also illustrate the pathophysiology, diagnosis, and subsequent therapeutic approach to this rare clinical entity.
Project description:Giant cell tumor (GCT) is a benign but locally aggressive bone tumor that usually involves the end of long bones. It is a relatively common neoplasm in patients, constituting 5 to 10% of all benign bone tumors. Approximately 2% of GCTs occur in the craniofacial skeleton with a predilection for the ethmoid, sphenoid, and temporal bones. The skull base location is unique and not commonly described. Hearing loss, headache, tinnitus, and subcutaneous masses are the most commonly reported symptoms in GCTs of the skull base. In this case report we present the first description of a GCT within the internal auditory canal causing cranial neuropathy and review the recent pertinent literature.
Project description:Li-Fraumeni syndrome (LFS) is a rare high-penetrance and autosomal-dominant pathological condition caused by the germline mutation of the TP53 gene, predisposing to the development of tumors from pediatric age. We conducted a qualitative systematic review following the ENTREQ (Enhancing Transparency in Reporting the Synthesis of Qualitative Research) framework. A search was made in MEDLINE/Pubmed and MeSH Database using the terms "Li-Fraumeni" AND "pediatric high-grade glioma (HGG)", identifying six cases of HGGs in pediatric patients with LFS. We added a further case with peculiar features such as no familiar history of LFS, association of embryonal rhabdomyosarcoma and bithalamic HGG, whose immunohistochemical profile was accurately defined by Next Generation Sequencing. Knowledge synthesis and case analysis grounded the discussion about challenges in the management of this pathology in pediatric age.
Project description:Spontaneous coronary artery dissection is a very rare cause of acute coronary syndromes and can be life threatening given the rarity of the condition. It should be part of differentials in young females presenting with acute coronary syndromes without routine risk factors for coronary artery disease, especially before, during, and after pregnancy. It is closely associated with fibromuscular dysplasia and management can be very challenging at times. We present a case of spontaneous coronary artery dissection presenting with recurrent ST segment elevation myocardial infarction in association with fibromuscular dysplasia.
Project description:CONTEXT AND OBJECTIVES:Congenital adrenal hyperplasia (CAH) is one of the most prevalent, and potentially severe, genetic inborn errors of steroid synthesis directly affecting metabolism. Most patients are diagnosed and treated at an early age. There have been very limited reports of adults with CAH-associated adrenal myelolipomas. We aimed to analyze two families with CAH-associated giant adrenal myelolipomas caused by defects in CYP21A2 and CYP17A1 genes. PARTICIPANTS AND METHODS:A total of 14 individuals from two unrelated families were identified with either CYP21A2 or CYP17A1 mutations. Of note, 5 patients were found with adrenal myelolipomas. Total DNA isolated from the peripheral blood of the two probands was screened for potential mutations in the following susceptibility genes of CAH: CYP21A2, CYP11B1, CYP17A1, HSD17B3, HSD3B2, ARMC5, and STAR using Target Capture-Based Deep Sequencing; and Sanger sequencing was conducted for the family members to detect the potential mutations. RESULTS:In family 1, molecular genetics sequencing revealed a compound heterozygous mutation (c.293-13C>G / c.518T>A, p.I173N) in CYP12A2 in the patient and his brother. In family 2, all three female patients with adrenal myelolipomas were found to have a compound heterozygous mutation (c.1118A>T, p.H373L / c.1459_1467del9, p.D487_F489del) in CYP17A1. CONCLUSION:To avoid giant CAH-associated adrenal myelolipomas in adults, it is important to identify CAH early so appropriate treatment can be initiated to interrupt the chronic adrenal hyperstimulation resulting from increased ACTH. Genetic testing and counseling could be useful in CAH.
Project description:BackgroundDeep penetrating nevus (DPN) is a distinct variant of melanocytic nevus and remains a histopathologic challenge to pathologists because of its resemblance to blue nevus, malignant melanoma, pigmented Spitz nevus, and congenital melanocytic nevus. It often goes unrecognized due to its relative rarity.Case presentationHere we report a case of DPN of the left anterior leg in a 51-year old female. A brief review of the literature shows that these lesions have a distinct growth pattern and cellular morphology that can differentiate these lesions from other entities including malignant melanoma.ConclusionIt is important to recognize these features because DPN carries a better prognosis than malignant melanoma.