Headache as the presenting manifestation of Gorlin‐Goltz syndrome with diastematomyelia: A case report

Ghosh, Ritwik; León Ruiz, Moisés; Purkait, Siktha; Roy, Dipayan; Ghosh, Tapas; Benito León, Julián

Headache as the presenting manifestation of Gorlin‐Goltz syndrome with diastematomyelia: A case report

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Official URL

https://doi.org/10.1111/ncn3.12767

Publication date

2023

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Publisher

Wiley

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URI

https://hdl.handle.net/20.500.14352/103315

Citation

Ghosh 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: 38130666

Abstract

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.