1/4. cadasil in a family from north-west india.We here with report a family with two sibs having history of recurrent familial stroke. neuroimaging revealed diffuse hyperintense signals in subcortical white matter and basal ganglia on MR images in younger sib suggestive of cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leucoencephalopathy (cadasil). The diagnosis was further strengthened on skin biopsy showing presence of PAS positive granules with thickening of dermal vessels.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/4. cadasil-an unusual manifestation with prominent cutaneous involvement.Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucencephalopathy (cadasil) is a rare vascular disorder affecting mainly the central nervous system with transient ischaemic attacks, strokes, psychiatric symptoms and dementia. It is a progressive familial disease owing to mutations in the Notch3 gene. Clinically apparent skin involvement is usually absent. Electron microscopy of seemingly uninvolved skin reveals characteristic granular deposits in the basal lamina of vessels and adnexals. We report on a case of cadasil with generalized haemorrhagic macules and patches. Typical neurological symptoms as well as classical findings in histopathology and electron microscopy confirmed the diagnosis. Immunofluorescence showed an increased number of vessels with walls markedly thickened by deposits of fibrin, complement and immunoglobulins. This method could serve as an additional method for accurate diagnosis of cadasil.- - - - - - - - - - ranking = 2keywords = vessel (Clic here for more details about this article) |
3/4. Typical pathological changes of cadasil in the optic nerve.Visual impairment due to retinal and optic nerve changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) is more common than previously thought. Deposits of granular osmiophilic material (GOM) have been shown in the wall of retinal arterioles, though retinal infarcts and vascular occlusions have never been reported. Ischaemic optic neuropathy, on the other hand, has been reported in one case of cadasil but no pathology reports of the optic nerve have been published. Here we report optic nerve morphological findings in the autopsy material of a 41-year-old woman with genetically assessed cadasil. Longitudinal and transverse sections of optic nerves were examined. Classical histological methods (haematoxylin-eosin and Nissl) were performed. Diffuse pallor of myelin and rarefaction of optic nerve fibres were observed. Classical GOM was evident in the tunica media of vessels in the meninges and white matter. Arteriole lumina were slightly narrowed. In conclusion, the typical pathological changes of cadasil occur in the optic nerve and may contribute to impairment of visual function in cadasil.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/4. Cerebellar arteriovenous malformation and vertebral artery aneurysm in a cadasil patient.The presence of large vessels malformations has not been reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil). We describe a cadasil patient in whom a brain cerebellar arteriovenous malformation was revealed by magnetic resonance (MR) imaging. An MR angiogram documented also an aneurysm along the right intracranial vertebral artery at the junction with the posterior-inferior cerebellar artery. The aneurysm was successfully treated by means of endovascular coil embolization. No neurological complication occurred in our patient during the angiographic procedure. In this case, in addition to an incidental coexistence of cadasil and large vessels abnormalities, a causal role of the Notch pathway alteration could be hypothesized. Dysregulation of the Notch pathway is linked to several human diseases besides cadasil. In one of these (the alagille syndrome) intracranial aneurysms are reported. This hypothesis contrasts however with the absence of similar reports in other cadasil cases and needs corroboration in large series.- - - - - - - - - - ranking = 2keywords = vessel (Clic here for more details about this article) |