Proteus Syndrome: a difficult diagnosis and management plan

RATIONALE Proteus Syndrome (PS) is an extremely rare congenital pathology that causes overgrowth of multiple tissues, in particular bone and fat, following a mosaic pattern. The estimated incidence is of less than 1 per 1,000.000 live births and represents a significant challenge to the pediatric and orthopedic surgeons in order to establish a diagnosis and to elaborate a management plan. OBJECTIVES We had the opportunity of treating many children who were afflicted by overgrowth syndromes and have been previously misdiagnosed as Proteus Syndrome in our department of pediatric and orthopedic surgery of "Maria Sklodowska Curie" Clinical Emergency Hospital for Children. This study helped us develop a diagnostic for these patients and report the first case of a confirmed PS in Romania. METHODS AND RESULTS We report the case of a 5-year-old white male who is in the attention of the clinic since birth. He presented with multiple overgrowth bone segments, fatty subcutaneous or intraabdominal tumors and other connective tissues abnormalities. All the tests performed confirmed the diagnosis of PS at the age of 4 and the management is still to be decided. DISCUSSIONS We followed the latest diagnostic indications and the patient fulfilled the general and specific criteria. The treatment is still in progress and it represents a challenge for the multidisciplinary medical team.