Mccune Albright Syndrome/Craniofacial Fibrous Dysplasia and Postcraniectomy Syndrome: Case Report and Literature Review

Abstract

Introduction: McCune Albright syndrome (MAS) is a rare pathology caused by a genetic mutation of the GNAS1 gene that causes fibrous dysplasia (FD) among other endocrinological and metabolic manifestations (1). Here is presented a case report, in which craniofacial dysplasia (CFFD) produces functional alteration, its treatment, and the management of underlying complications. Case report: A 10-year-old female patient who presented with CFD with progressive involvement of the orbital cavity, compression of the optic nerve and right oculomotor cranial nerves, associated with precocious puberty and the appearance of ‘’café-au-lait’’ spots on the skin and finally, the diagnosis of MAS is made. Right front-parieto-temporal craniectomy and intracanalicular decompression of the optic nerve was performed getting partial improvement of functional alteration. Subsequently, cranioplasty is performed to manage postcraniectomy/trephined syndrome. Discussion: MAS is a genetic postzygotic disease that occurs in early stages of embryonic development, which explains its mosaicism. Among its manifestation is FD, which is explained by the hyperfunctioning nature of the mutation. In the case of DCF, continuous surveillance is required by a multidisciplinary team that includes a neurosurgeon, whose intervention is reserved for cases in which functional alterations occur, following the recommendations given by medical literature regarding the approach and type of surgery. Decompressive craniectomy can be associated with complications such as postcraniectomy/trephined syndrome, which shows improvement or resolution with cranioplasty. Conclusion: The diagnosis of MAS is clinical, and its mosaicism is explained by its early presentation in embryonic development. In the case of FCD with functional compromise, neurosurgical intervention is required, seeking the recovery and preservation of the compromised cranial nerves, avoiding prophylactic decompressions. In case of complications such as postcraniectomy/trephination syndrome, timely cranioplasty should be performed as it turns out to be highly effective as a treatment, however, the need for studies aimed at its characterization and diagnosis arises.