ПРИКАЗ НА СЛУЧAJ: ПАЦИЕНТ СО АКРОМЕГАЛИЈА И ПОЛИОСТОТИЧНА ФИБРОЗНА ДИСПЛАЗИЈА - McCUNE ALBRIGHT СИНДРОМ

Abstract

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of café-au-lait skin spots, poly/monostotic fibrous dysplasia (FD) of bone and precocious puberty. However, MAS is an extremely heterogeneous disease and numbers of atypical and partial forms exist beyond the classic MAS. Growth hormone (GH) excess has been reported as a common manifestation in MAS. Polyostotic fibrous dysplasia is reported to be more common in MAS, with involvement of the craniofacial (CF) region in over 90% of the cases. Involvement of the CF bones with FD often results in overgrowth and asymmetry of bone and hence recognition of GH excess might be unrecognized. Moreover, morbidity related to FD is more common in patients with GH excess. Medical treatment using a somatostatin analog or dopamine agonist is often the only option in patients with MAS and acromegaly, because surgery is not possible due to the massive thickening of the CF with FD. We report an atypical case of MAS in a 35-year-old male patient showing PFD with severe involvement of the base of the skull, along with acromegaly.