DOI: 10.36347/sasjm.2024.v10i05.017

Pages: 376-382

Our study delves into the radiological characteristics of phacomatoses, leveraging advanced imaging techniques like MRI and CT to differentiate and diagnose various neurocutaneous syndromes, including Sturge-Weber syndrome, neurofibromatosis types 1 and 2, tuberous sclerosis complex, and Von Hippel-Lindau disease. Conducted as a retrospective analysis at the CHU Mohammed VI's Mother and Child Hospital, our research spans over four years and eight months, examining imaging findings from 24 patients. We highlight specific radiological signatures that aid in the identification and management of these complex conditions. Our findings not only corroborate established radiological markers but also introduce new insights into the diverse manifestations of phacomatoses. This study emphasizes the critical role of imaging in enhancing diagnostic accuracy, informing therapeutic decisions, and monitoring disease progression, thereby contributing to improved patient outcomes in managing these genetic disorders.