Basilar Artery Dissection in an Adult Patient Presenting with De Novo Moyamoya Disease.
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ABSTRACT:
SUBMITTER: Prokin AL
PROVIDER: S-EPMC8370156 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Background and purposeThere have been inconsistencies on the prognosis and controversies as to the proper management of acute basilar artery dissection. The aim of this study was to evaluate acute basilar artery dissection and its outcome after management.Materials and methodsA total of 21 patients (mean age, 53 years; range, 24-78 years) with acute basilar artery dissection were identified between January 2001 and October 2007. Clinical presentation, management, and outcomes were retrospectively evaluated.ResultsThe patients presented with subarachnoid hemorrhage (n = 10), brain stem ischemia (n = 10), or stem compression sign (n = 1). Ruptured basilar artery dissections were treated by stent placement with coiling (n = 4), single stent placement (n = 3), or conservatively (n = 3). Of the patients treated with endovascular technique, 6 had favorable outcome (modified Rankin scale [mRS], 0-2) and the remaining patient, who was treated by single stent placement, died from rebleeding. All 3 conservatively managed patients experienced rebleeding, of whom 2 died and the other was moderately disabled. Unruptured basilar artery dissections were treated conservatively (n = 7) or by stent placement (n = 4). Of the patients with unruptured basilar artery dissection, 9 had favorable outcome and the remaining 2 patients, both of whom were conservatively managed, had poor outcome because of infarct progression. The group with the ruptured basilar artery dissection revealed a higher mortality rate than the group with the unruptured dissection (30% vs 0%). The group treated with endovascular means revealed more favorable outcome than the group that was treated with conservative measures (90.9% vs 50%).ConclusionThe ruptured basilar artery dissections were at high risk for rebleeding, resulting in a grave outcome. Stent placement with or without coiling may be considered to prevent rebleeding in ruptured basilar dissections and judiciously considered in unruptured dissections with signs of progressive brain stem ischemia.
| S-EPMC8118943 | biostudies-literature
Project description:Variants in RNF213 lead to susceptibility to moyamoya disease, a rare cerebral angiopathy characterized by bilateral stenosis of the internal carotid arteries and development of a compensatory collateral network. We describe a 3-month-old female with seizures, arterial narrowing involving the internal carotid and intracranial arteries and inferior abdominal aorta, and persistently elevated transaminases. Whole exome sequencing demonstrated a novel de novo variant in RNF213, securing a molecular diagnosis and directing appropriate intervention. This report underscores the role of whole exome sequencing in cases for which a complex and atypical presentation may mask diagnosis. Furthermore, the early and severe presentation in our patient, in conjunction with a novel de novo RNF213 variant, suggests that specific variants in RNF213 may lead to a Mendelian form of disease rather than simply conferring susceptibility to multifactorial disease.
| S-EPMC4639746 | biostudies-literature
Project description:Superficial temporal artery-middle cerebral artery (STA-MCA) has been used for the treatment of occlusive cerebrovascular disease including moyamoya disease. The effect of STA-MCA bypass depends not only on the patency of anastomosis, but also on integrity and functional capacity of the donor artery. In the present prospective study, we investigated the effect of extensive stripping STA adventitia and fasciae on hemodynamic function in STA-MCA bypass of moyamoya disease patients. Twenty patients (n=8 in control group, n=12 in stripping group) of moyamoya disease were subjected to STA-MCA end-to-side direct anastomosis. Perfusion unit (PU) values of the cortex were measured and recorded using a Laser Doppler flowmetry (LDF) for 5 days. Computed tomography perfusion was performed to determine blood flow before and after bypass. No patient experienced significant neurologic deficits associated with neurosurgical complications. LDF demonstrated that adventitial stripping group had higher cerebral blood flow increase than control group. The adventitia stripping group tends to have higher rate of increased cerebral perfusion after bypass than non-stripping group. Furthermore, the ultrasound examination at 3 days after bypass demonstrated that the adventitial stripping group has a tendency of bigger STA and higher peak systolic velocity than control group. Our result suggests that stripping adventitia of STA improves hemodynamics of STA-MCA bypass in moyamoya disease.
| S-EPMC5524801 | biostudies-other
Project description:ObjectiveTo test the hypothesis that de novo genetic variants are responsible for moyamoya disease (MMD) in children with unaffected relatives, we performed exome sequencing of 28 affected children and their unaffected parents.MethodsExome sequencing was performed on 28 trios of affected patients with MMD and unaffected parents.ResultsWe identified 3 novel rare de novo RNF213 variants, 1 in the RING domain and 2 in a highly conserved region distal to the RING domain (4,114-4,120). These de novo cases of MMD present at a young age with aggressive MMD and uniquely have additional occlusive vascular lesions, including renal artery stenosis. Two previously reported cases had de novo variants in the same limited region and presented young with aggressive MMD, and 1 case had narrowing of the inferior abdominal aorta.ConclusionsThese results indicate a novel syndrome associated with RNF213 rare variants defined by de novo mutations disrupting highly conserved amino acids in the RING domain and a discrete region distal to the RING domain delimited by amino acids 4,114 to 4,120 leading to onset of severe MMD before 3 years of age and occlusion of other arteries, including the abdominal aorta, renal, iliac, and femoral arteries.
| S-EPMC8055312 | biostudies-literature
Project description:Isolated brachiocephalic artery dissection is an extremely rare condition. Its presentation as an acute stroke can pose a significant diagnostic challenge in patients because of its rarity. We present a case of isolated spontaneous brachiocephalic artery dissection presenting as acute cerebrovascular accident. This case also illustrates the treatment dilemma brachiocephalic artery dissection can present, whether to choose antithrombotic/anticoagulation therapy and/or surgery, and also the dilemma in blood pressure management.
| S-EPMC4693123 | biostudies-other
Project description:Ring-finger protein 213 (RNF213) encodes a protein of unknown function believed to play a role in cellular metabolism and angiogenesis. Gene variants are associated with susceptibility to moyamoya disease. Here, we describe two children with moyamoya disease who also demonstrated kidney disease, elevated aminotransferases, and recurrent skin lesions found by exome sequencing to have de novo missense variants in RNF213. These cases highlight the ability of RNF213 to cause Mendelian moyamoya disease in addition to acting as a genetic susceptibility locus. The cases also suggest a new, multi-organ RNF213-spectrum disease characterized by liver, skin, and kidney pathology in addition to severe moyamoya disease caused by heterozygous, de novo C-terminal RNF213 missense variants.
| S-EPMC8360119 | biostudies-literature
Project description:ObjectiveTreatment of patients with thymic malignancies metastatic to the pleura or pericardium is challenging, and benefits of aggressive treatment are unclear. We sought to characterize the long-term outcomes in this population.MethodsWe retrospectively identified patients who underwent resection for de novo thymic malignancies metastatic to the pleura between May 1997 and December 2017. Patients with pleural recurrence after prior thymectomy were excluded. Patient demographics, perioperative treatments, pathologic findings, and postoperative outcomes were collected. Descriptive statistics and Kaplan-Meier analyses were performed.ResultsSeventy-two patients were included (median age, 51 years [range 25-80]; 36/72 women [50%]). Pathologic diagnosis was thymoma in 57 patients (79%) and thymic carcinoma in 15 patients (21%). Most patients (67/72; 93%) received chemotherapy, radiation, or both. Forty-eight patients underwent thymectomy with pleurectomy, 7 patients underwent extrapleural pneumonectomy, 10 patients underwent thymectomy alone, and 7 patients were unresectable. Macroscopic complete resection was achieved in 52 patients (73%). Five-, 10-, and 15-year overall survivals were 73%, 51%, and 18%, respectively, and median overall survival was 11 years (median follow-up, 5.9 years). Forty-six patients (64%) had disease progression (median time to progression, 2.2 years). Repeat episodes of progression and treatment were common (median, 3 episodes/patient). The longest disease-free interval was 12.4 years. Thirteen patients (18%) remain disease-free; 7 patients (10%) were disease-free for more than 5 years. The longest ongoing survival without progression or reintervention is 9.9 years.ConclusionsProlonged survival and, in some cases, cure can be achieved in patients with thymic malignancies metastatic to the pleura or pericardium. Aggressive multimodality therapy may be appropriate for select patients.
| S-EPMC7067622 | biostudies-literature
Project description:BackgroundSubarachnoid hemorrhage (SAH) due to rupture of basilar artery dissection (BAD) is extremely rare and often has a poor prognosis. Since ruptured BAD has high rate of rebleeding and mortality, treatment to prevent rerupture is mandatory in the acute phase. However, to date, no optimal treatment has been established which satisfies secure prevention of rerupture and ischemia simultaneously. Herein, we report a case of SAH due to BAD treated with proximal occlusion of basilar artery with superficial temporal artery (STA)-superior cerebellar artery (SCA) bypass, preventing rebleeding securely and ensuring adequate blood flow in the upper basilar region.Case descriptionA 48-year-old male presenting with headache and altered mental status was found to have SAH and BAD. To prevent rerupture, proximal occlusion of basilar artery with STA-SCA bypass using anterior transpetrosal approach was performed. The postoperative course was relatively good and there is no evidence of recurrent arterial dissection.ConclusionProximal occlusion of the basilar artery combined with STA-SCA bypass was successful in preventing rerupture of BAD and ensuring blood flow in the upper basilar region. Although there is controversy regarding acute treatment for ruptured BAD, direct proximal occlusion with sufficient revascularization using bypass skull base technique may be one of the optimal treatments even in this era of endovascular treatment.
| S-EPMC7533090 | biostudies-literature
Project description:The present report concerns the first case of a spontaneous arterial coronary dissection in adult onset homocystinuria leading to a premature myocardial infarct. The patient had also presented an unexplained lower limb venous thrombosis at the age of 41. A carotid artery thrombosis was found at the aged of 61 during the investigations for facial nerve palsy. The diagnosis of homocystinuria was delayed as it was only performed 20 years after the first thrombotic event. From observation, a pectus carinatum was the only clinical characteristic that could be related to homocystinuria phenotype. Cystathionine ?-synthase (CBS) gene analysis showed compound heterozygous mutations. After 3 months of pyridoxine, the plasma homocysteine level was totally normalised.
| S-EPMC3029091 | biostudies-literature
Project description:Moyamoya disease is a chronic progressive cerebrovascular disease characterized by bilateral occlusion or stenosis of arteries around circle of Willis. We report a case of 18-year-old female presented with recurrent episodes of headache and vertigo. On cerebral angiography, the patient was diagnosed to have moyamoya disease. On further evaluation, thrombophilia profile showed increased homocysteine level. The patient was treated conservatively with cobalamin and aspirin and advised for revascularization. According to the literature, there are few case reports of moyamoya disease with thrombotic disorders. Hence, we are reporting this interesting and rare case.
| S-EPMC5960504 | biostudies-literature