Mr. MN is a 43y.o. man with McCune-Albright Syndrome (MAS) with acromegaly, craniofacial fibrous dysplasia (FD) and radiological evidence of bilateral optic canal compression who highlights the challenge of management of this rare condition.
He has had a number of debulkings and nasal drillout procedures since 2000 and continues to have significant facial deformity with R epiphora and global dystopia, as well as complete occlusion of his R nasal passage. He has previously received zoledronic acid in 1999 in an attempt to slow bone turnover resulting in severe pain. Due to this previous adverse reaction, chronic ethmoid osteomyelitis, and a lack of bone pain and fractures, he is not for further bisphosphonate therapy. Acromegaly was diagnosed on a recent admission with facial cellulitis and a 14 X 15 X 18mm right-sided pituitary mass was identified on MRI.
Given the extent of his FD, surgical management is not feasible and due to concerns about malignant transformation, we are reluctant to pursue radiotherapy. He has continued on somatostatin analog therapy for the past six months with some symptomatic response however continues to have significantly elevated GH, IGF-1 and bone turnover markers. Of concern is the presence of bilateral optic canal compression in the setting of growth hormone excess, a know risk factor for optic neuropathy and blindness.
This case demonstrates the difficulty in managing patients with the combination of acromegaly and craniofacial fibrous dysplasia. The principles of therapy for acromegaly in MAS, role of bisphosphonates, risks of malignant transformation, and options for somatostatin analog resistance will be highlighted.