{"id":"8a7003da-16de-43c6-acf1-e002407b8d53","slug":"pediatric-cerebral-cavernous-malformations-genetics-pathogenesis-and-management","title":"Pediatric cerebral cavernous malformations: Genetics, pathogenesis, and management","authors":["Michael G. Z. Ghali","Visish M. Srinivasan","Arvind C. Mohan","Jeremy Y. Jones","Peter T. Kan","Sandi Lam"],"abstract":"Background: Cerebral cavernous malformations (CCMs) are vascular lesions that can lead to significant neurological symptoms in pediatric patients. The incidence and prevalence of CCMs in children are less understood compared to adults, with familial cases being more common in certain populations. Understanding the genetic and pathophysiological aspects of CCMs is crucial for effective management. Methods: This review article synthesizes existing literature on the genetics, pathogenesis, and management of pediatric CCMs. It includes case reports and epidemiological data to illustrate clinical presentations and outcomes associated with these lesions. Imaging techniques and genetic testing methodologies are also discussed. Results: The review highlights that approximately 10% of pediatric CCM cases are familial, with specific genetic mutations linked to their development. Imaging studies indicate that T2-weighted MRI sequences are most effective for detecting CCMs. Surgical intervention is often necessary in cases of symptomatic hemorrhage, with varying outcomes based on lesion location and patient age. Conclusion: Pediatric CCMs present unique challenges in diagnosis and management, necessitating a multidisciplinary approach. Genetic factors play a significant role in the pathogenesis of these lesions, and early identification through imaging and genetic testing can improve patient outcomes. Further research is needed to better understand the natural history and optimal management strategies for pediatric CCMs. Keywords: cerebral cavernous malformations, pediatrics, genetics, pathogenesis, management, hemorrhage, imaging","thumbnailUrl":"https://sni-digital-videos.s3.amazonaws.com/articles/8a7003da-16de-43c6-acf1-e002407b8d53/featured/hero-1782420890140.png","publishDate":"2016-12-28T00:00:00.000Z","doi":"10.4103/2152-7806.196921","categories":["Pediatric Neurosurgery","Review Article"],"fullTextUrl":"http://surgicalneurologyint.com/wp-content/uploads/2017/01/8252/SNI-7-1127.pdf"}