A Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child

Proteus syndrome (PS) is an exceptionally rare disorder characterized by asymmetric and disproportionate overgrowth of connective tissues. We report the case of an 8-year-old female presenting with irregular cranial protrusion, bilateral supraorbital ridge enlargement, overgrowth of the right hand and left foot, and a pelvic MRI revealing an ovarian tumor. Initially, the patient was suspected of having Maffucci syndrome (MS) upon admission. Genetic analysis of a lesion sample from the fifth toe of the left foot identified a heterozygous point mutation, 49G > A (p.Glu17Lys), in the AKT1 gene. The patient met the clinical-molecular diagnostic criteria established by Leslie G. Biesecker, scoring 15 points, thereby confirming the diagnosis of AKT1-related PS. This case report contributes to the enhanced understanding of PS diagnosis associated with AKT1 mutations.