Person:
Benito León, Julián

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First Name
Julián
Last Name
Benito León
Affiliation
Universidad Complutense de Madrid
Faculty / Institute
Medicina
Department
Medicina
Area
Medicina
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    Headache as the presenting manifestation of Gorlin‐Goltz syndrome with diastematomyelia: A case report
    (Neurology and Clinical Neuroscience, 2023) Ghosh, Ritwik; León Ruiz, Moisés; Purkait, Siktha; Roy, Dipayan; Ghosh, Tapas; Benito León, Julián
    Gorlin-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.