Published online Oct 6, 2023. doi: 10.12998/wjcc.v11.i28.6817
Peer-review started: July 1, 2023
First decision: August 17, 2023
Revised: August 26, 2023
Accepted: September 11, 2023
Article in press: September 11, 2023
Published online: October 6, 2023
Processing time: 85 Days and 19.2 Hours
McCune-Albright syndrome (MAS) is extremely rare clinically. We here report a case of MAS with severe symptoms that have not been reported previously.
A 10-year-old boy attended our outpatient clinic due to craniofacial malformations found two years ago. He underwent temporal bone computed tomography and digital radiography photography. Based on a literature review combined with the patient's medical history and imaging examination findings, he was diagnosed with multiple fibrous dysplasia of bone. As the clinical symptoms related to MAS in this patient were not obvious, he was only followed up and not given any special treatment.
The unique clinical manifestations in this MAS patient may be related to mutations in the GNAS gene.
Core Tip: McCune-Albright syndrome is extremely rare in clinical practice, which is mainly manifested as fibrous dysplasia, café-au-lait skin spots, and precocious puberty. The clinical manifestations of the present patient were typical, with severe symptoms that have not been reported previously. This case report may provide reference for the diagnosis and treatment of this disease.