Basilar Artery Dissection in an Adult Patient Presenting with De Novo Moyamoya Disease.
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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:Background and purposeDolichoectasia of the basilar artery is a characteristic finding of Fabry disease. However, its prevalence, severity, and course have been poorly studied. This study quantitatively evaluated, by MRA, a panel of basilar artery parameters in a large cohort of patients with Fabry disease.Materials and methodsBasilar artery mean diameter, curved length, "origin-to-end" linear distance (linear length), and tortuosity index ([curved length ÷ linear length] - 1) were retrospectively measured on 1.5T MRA studies of 110 patients with Fabry disease (mean age, 39.4 ± 18.6 years; 40 males) and 108 control patients (mean age, 42.0 ± 18.2 years; 40 males).ResultsPatients with Fabry disease had increased basilar artery mean diameter (P < .001) and basilar artery linear length (P = .02) compared with control patients. Basilar artery curved length and tortuosity index correlated with age in both groups (P < .001), whereas basilar artery linear length correlated with age only in patients with Fabry disease (P = .002). Patients with Fabry disease showed a basilar artery curved length mean increase of 4.2% (9.7% in male patients with Fabry disease versus male control patients), whereas the basilar artery mean diameter had a mean increase of 12.4% (14.3% in male patients with Fabry disease versus male control patients). Male patients with Fabry disease had increased basilar artery mean diameter, curved length, and tortuosity index compared with female patients with Fabry disease (P = .04, P = .02, and P < .001, respectively) and male control patients (P < .001, P = .01, and P = .006, respectively). Female patients with Fabry disease demonstrated an age-dependent increase of basilar artery mean diameter that became significant (P < .001) compared with female control patients above the age of 45 years.ConclusionsThe basilar artery of patients with FD is subjected to major remodeling that differs according to age and sex, thus providing interesting clues about the pathophysiology of cerebral vessels in Fabry disease.
| S-EPMC7960013 | 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: Not available
| S-EPMC7239194 | biostudies-literature
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:Introducción. La enfermedad de moyamoya es una enfermedad estenooclusiva progresiva de las principales arterias intracraneales. Los individuos afectados corren el riesgo de sufrir un accidente cerebrovascular hemorrágico o isquémico intracraneal, deterioro cognitivo y retrasos en el desarrollo. Se han identificado varios genes de susceptibilidad. La variante p.R4810K en el gen RNF213 se ha identificado en el 95% de los pacientes con enfermedad de moyamoya familiar. Caso clínico. Presentamos el caso de una adolescente de 15 años que se presentó con quejas principales de disgrafía y falta de coordinación en la mano derecha con dos meses de evolución. La resonancia magnética cerebral reveló varias lesiones isquémicas con diferentes ritmos de evolución y la angiorresonancia magnética mostró múltiples estenosis suboclusivas. En el estudio de las secuencias de las regiones codificantes y de las regiones intrónicas flanqueantes (±8 pb) del gen RNF213, se detectó la variante c.12185G>A, p.(Arg4062Gln) en heterocigosidad en el gen RNF213. Este resultado indica que la paciente es heterocigota para la variante c.12185G>A, p.(Arg4062Gln) en el gen RNF213. La variante detectada ya ha sido descrita en la bibliografía como una variante fundadora en la población asiática, asociada a síndrome de moyamoya. Esta variante está descrita en ClinVar como una variante de significado clínico desconocido. Además, no está descrita en las bases de datos poblacionales (dbSNP, ESP y gnomAD). Conclusión. Hasta donde sabemos, la variante p.(Arg4062Gln) se ha notificado en tres pacientes japoneses con enfermedad de moyamoya y en uno europeo. Por lo tanto, nuestro paciente fue el segundo europeo con enfermedad de moyamoya con esta variante identificada.
| S-EPMC10364028 | biostudies-literature