Comprehensive Clinical Presentation in a Case of Coexisting Sturge-Weber Syndrome and Neurofibromatosis Type 1

Neurofibromatosis Type 1 (NF1) and Sturge-Weber syndrome (SWS) are both genetic disorders with distinct clinical manifestations. NF1 is characterized by multiple neurofibromas, café-au-lait spots, axillary freckling, and potential optic gliomas due to mutations in the NF1 gene on chromosome 17. In contrast, SWS is marked by capillary malformations, leptomeningeal angiofibromas, and congenital glaucoma resulting from post-zygotic mutations in the Guanine Nucleotide-Binding Protein (G Protein), subunit Alpha (GNAQ) gene. Here, we report an exceptional coexistence of both NF1 and SWS. The patient displayed multiple café-au-lait spots, neurofibromas, axillary freckling, fulfilling the criteria for NF1. Concurrently, the patient exhibited a port-wine stain in the periorbital territory aligning with the clinical features of SWS.