PubMed · 15454878
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
S Stefanizzi, J-P Guichard, L Martinez, T De Broucker. 2004. [Cadasil].. https://doi.org/10.1016/s0035-3787(04)71065-6
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
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.
Explore the source record for details and available documents.
Explore the source record for details and available documents.