Fuente: PubMed "wine" Childs Nerv Syst. 2025 Dec 16;41(1):422. doi: 10.1007/s00381-025-07089-5.ABSTRACTBACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare genetic disorder characterized by cutaneous capillary malformations and fast-flow vascular lesions, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs). CM-AVM is caused by mutations in RASA1 and EPHB4, leading to aberrant Ras-MAPK signaling.METHODS: A systematic search of PubMed and Scopus was conducted for studies published until June 2025. The inclusion criteria were studies reporting cerebrovascular malformations in genetically confirmed CM-AVM cases. A total of 37 studies were included in the final analysis.RESULTS: The review included 148 patients diagnosed with CM-AVM, with 86% carrying RASA1 mutations and 14% carrying EPHB4 mutations. The most common cerebrovascular lesions were pial AVFs (43.3%) and AVMs (36.0%), with a notable distinction between the two genetic subtypes. RASA1 mutations were associated with a broader range of lesions, including AVMs, pAVFs, and vGaMs, whereas EPHB4 mutations were predominantly linked to vGaMs. Nearly 25% of patients required endovascular embolization, and 5.3% underwent surgery. A significant difference in the cerebrovascular phenotype was observed between RASA1 and EPHB4 mutations, with the latter group presenting a narrower vascular phenotype.CONCLUSION: This review highlights the crucial need for screening cerebrovascular anomalies in CM-AVM patients due to potential misdiagnosis with HHT. Genetic testing is essential for confirmation, but regular imaging and clinical evaluation are key to detecting vascular lesions early, preventing severe neurological complications. Further research into additional genetic mutations may improve diagnostic accuracy and management strategies.PMID:41398316 | DOI:10.1007/s00381-025-07089-5