Evolving diagnosis of McCune-Albright syndrome. atypical presentation and follow up.
The diagnosis of McCune-Albright syndrome has classically consisted of the triad of gonadotropin-independent precocious puberty (GIPP), café-au-lait (CAL) spots and fibrous dysplasia of bone. Atypical or incomplete forms of the syndrome have been reported in the literature, with only one or two of the classical symptoms present, and the diagnosis being made after molecular analysis. Therefore not all three classical findings need to be present for the diagnosis to be made. We report a patient who was suspected of having McCune-Albright syndrome after presenting initially with GIPP at age 2 years 10 months. At age 10 years 1 month, a CAL spot appeared and, after reviewing previous imaging studies, a bone cyst was found. Molecular analysis in peripheral leucocytes was negative. We reviewed similar cases described in the literature.
Medina
Yeray Nóvoa
YN
Division of Pediatric Endocrinology & Diabetes, Mount Sinai School of Medicine, New York, NY 10029, USA.
Rapaport
Robert
R
D001845:Bone Cysts / Q000175:diagnosis; D002675:Child, Preschool; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis*; D005500:Follow-Up Studies; D006801:Humans; D011629:Puberty, Precocious / Q000175:diagnosis; D014592:Uterine Hemorrhage / Q000175:diagnosis* / Q000209:etiology