High incidence of asymmetry of Willis circle in the group of patients with ruptured aneurysms imply association of asymmetrical configuration and disorder in haemodynamic relations with forming and rupture of intracranial aneurysms.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders and dementia. CADASIL is caused by mutations of the NOTCH3 gene. This mutation is inherited as an autosomal dominant trait. Most individuals with CADASIL have a parent with the disorder. In extremely rare cases, CADASIL may occur due to a spontaneous genetic mutation that occurs for unknown reasons (de novo mutation). We report a new case of patient with de novo mutation of the NOTCH3 gene and a condition strongly suggestive of CADASIL (migraine, stroke, and white matter abnormalities), except that this patient did not have any first-degree relatives with similar symptoms.
Diagnostically, it is crucial to recognize this uncommon histological variant because malignant Triton tumor has a worse prognosis than classic malignant peripheral nerve sheath tumor does. The use of the immunohistochemistry is essential in making the correct diagnosis. Only appropriate pathological evaluation supported by immunostaining with S-100 protein and desmin confirmed the diagnosis. Aggressive surgical management treatment improves the prognosis of such cases with adjuvant radiotherapy.
Background and Objectives: Intracranial hemorrhage caused by the rupture of brain aneurysms occurs in almost 10 per 100,000 people whereas the incidence of such aneurysms is significantly higher, accounting for 4–9%.Linking certain factors to cerebral aneurysm rupture could help in explaining the significantly lower incidence of their rupture compared to their presence. The aim of this study is to determine the association between the corresponding circle of Willis configurations and rupture of cerebral aneurysms. Materials and Methods: A group of 114 patients treated operatively for aruptured cerebral aneurysm and a group of 56 autopsied subjects were involved in the study. Four basic types of the circle of Willis configurations were formed—two symmetric types A and C, and two asymmetric types B and D. Results: A statistically significantly higher presence of asymmetry of the circle of Willis was determined in the group of surgically-treated subjects (p = 0.001),witha significant presence of asymmetric Type B in this group (p < 0.001). The changeson the A1 segment in the group of surgically-treated subjects showed a statistically significant presence compared to the group of autopsied subjects (p = 0.001). Analyzing the presence of symmetry of the circle of Willis between the two groups, that is, the total presence of symmetric types A and C, indicated their statistically significant presence in the group of autopsied patients (p < 0.001). Conclusions: Changes such as hypoplasia or aplasia of A1 and the resulting asymmetry of the circle of Willis directly affect the possibility of the rupture of cerebral aneurysms. Detection of the corresponding types of the circle of Willis after diagnostic examination can be the basis for the development of a protocol for monitoring such patients.
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