Ghosh, RitwikLeón Ruiz, MoisésPurkait, SikthaRoy, DipayanGhosh, TapasBenito León, Julián2024-04-222024-04-222023-07-16Ghosh R, León-Ruiz M, Purkait S, Roy D, Ghosh T, Benito-León J. Headache as the presenting manifestation of Gorlin-Goltz syndrome with diastematomyelia: A case report. Neurol Clin Neurosci. 2023 Nov;11(6):328-331. doi: 10.1111/ncn3.12767. Epub 2023 Jul 16. PMID: 381306662049-41732049-417310.1111/ncn3.12767https://hdl.handle.net/20.500.14352/103315Gorlin-Goltz syndrome (GGS) is an autosomal dominant multisystemic disease with high penetrance. Headache heralding GGS has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis. A 46-year-old woman presented with persistent holocranial headache. On examination, countless hyperpigmented basal cell nevi over the face, pits over the palmar/plantar surface, and palmar and plantar keratosis were observed. A magnetic resonance imaging (MRI) of the spinal cord revealed diastematomyelia. Diagnosis of GGS was finally made. Headache and diastematomyelia should be included in the clinical picture of GGS.engAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/journal articlehttps://doi.org/10.1111/ncn3.1276738130666https://onlinelibrary.wiley.com/doi/full/10.1111/ncn3.12767open access616.857Gorlin-Goltz syndromeDiastematomyeliaHeadacheMalformationPresenting manifestationMedicina interna3205.07 Neurología