YU-FAN LIU2026-10-162026-10-162010-10-01Pure ID: 14922780Pure UUID: 50cb815f-e6a3-4e60-a5f2-e1dfbbb6911910.1016/j.clineuro.2010.05.010https://www.scopus.com/pages/publications/77956191612https://scholars.csmu.edu.tw/handle/123456789/30231Cavernous malformations (CMs) of the central nervous system can occur in a sporadic condition or as a familial form with an autosomal-dominant inherited pattern. Apart from a family history, some clinical features may help to identify familial CMs. We demonstrate clinical, neuroradiological, pathological, and genetic data of a patient with cerebral and spinal CMs. The presence of multiple cerebral CMs and distinct cutaneous vascular lesions, including hyperkeratotic cutaneous capillary-venous malformations, in this patient suggested familial CMs. A genetic study confirmed a nonsense mutation (c.1708A>T) in the KRIT1 gene.4enjournal article