Gigantism Treated by Pure Endoscopic Endonasal Approach in a Case of McCune-Albright Syndrome with Sphenoid Fibrous Dysplasia: A Case Report

Abstract

McCune-Albright syndrome (MAS) is an uncommon polyostotic manifestation of fibrous dysplasia in association with at least one endocrinopathy that is mostly associated with precocious puberty and hyperpigmented skin macules named café-au-lait spots. We present an atypical manifestation of McCune-Albright syndrome in a 19-year-old man with the uncommon association of polyostotic fibrous dysplasia and gigantism in the absence of café-au-lait spots and precocious puberty. He presented with a height increase to 202 cm in the previous 3 years, which had become more progressive in the few months prior. Physical examination revealed only a mild facial asymmetry; however, a computed tomography (CT) scan discovered vast areas of voluminous bones with ground-glass density and thickening involving the craniofacial bones and skull base. Magnetic resonance imaging (MRI) found a right stalk shift of the pituitary with a 20 mm pituitary adenoma. We describe the diagnostic and endoscopic endonasal transsphenoidal approach for excision of the tumor.

Keywords

McCune-Albright syndrome - neuroendoscopy - pituitary adenoma

• References

• 1 Albright F, Butler AM, Hampton AO , et al. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. N Engl J Med 1947; 216: 726-746
• 2 Bayas A, Naumann M, Wever S, Toyka KV. Meningioma associated with McCune-Albright syndrome. J Neurol 1999; 246: 1199-1200
• 3 Bulakbaşi N, Bozlar U, Karademir I, Kocaoğlu M, Somuncu I. CT and MRI in the evaluation of craniospinal involvement with polyostotic fibrous dysplasia in McCune-Albright syndrome. Diagn Interv Radiol 2008; 14: 177-181
• 4 Daly BD, Chow CC, Cockram CS. Unusual manifestations of craniofacial fibrous dysplasia: clinical, endocrinological and computed tomographic features. Postgrad Med J 1994; 70: 10-16
• 5 McCune DJ. Osteitis fibrosa cystica: the case of a nine-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Child 1936; 52: 743-747
• 6 Sung SH, Yoon HD, Shon HS , et al. A case of McCune-Albright syndrome with associated multiple endocrinopathies. Korean J Intern Med 2007; 22: 45-50
• 7 Almeida JP, Albuquerque LA, Ferraz CL, Mota I, Gondim J, Ferraz TM. McCune-Albright syndrome and acromegaly: hormonal control with use of cabergoline and long-acting somatostatin—case report. Arq Bras Endocrinol Metabol 2009; 53: 102-106
• 8 Aragao A, Silva I. Oral Alendronate treatment for severe polyostotic fibrous dysplasia due to McCune-Albright syndrome in a child: a case report. Int J Pediatr Endocrinol 2010; 2010: 432060
• 9 Dou W, Lin N, Ma W , et al. Transsphenoidal surgery in a patient with acromegaly and McCune-Albright syndrome: application of neuronavigation. J Neurosurg 2008; 108: 164-169
• 10 Happle R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet 1986; 29: 321-324
• 11 Imanaka M, Iida K, Nishizawa H , et al. McCune-Albright syndrome with acromegaly and fibrous dysplasia associated with the GNAS gene mutation identified by sensitive PNA-clamping method. Intern Med 2007; 46: 1577-1583
• 12 Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting. Endocr Rev 2001; 22: 675-705
• 13 Yamamoto T. Clinical approach to clarifying the mechanism of abnormal bone metabolism in McCune-Albright syndrome. J Bone Miner Metab 2006; 24: 7-10
• 14 Bhansali A, Sharma BS, Sreenivasulu P, Singh P, Vashisth RK, Dash RJ. Acromegaly with fibrous dysplasia: McCune-Albright Syndrome — clinical studies in 3 cases and brief review of literature. Endocr J 2003; 50: 793-799
• 15 Chanson P, Dib A, Visot A, Derome PJ. McCune-Albright syndrome and acromegaly: clinical studies and responses to treatment in five cases. Eur J Endocrinol 1994; 131: 229-234
• 16 Xavier SP, Ribeiro MC, Sicchieri LG, Brentegani LG, Lacerda SA. Clinical, microscopic and imaging findings associated to McCune-Albright syndrome: report of two cases. Braz Dent J 2008; 19: 165-170
• 17 Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis 2008; 3: 12
• 18 Lee PA, Van Dop C, Migeon CJ. McCune-Albright syndrome. Long-term follow-up. JAMA 1986; 256: 2980-2984
• 19 Premawardhana LD, Vora JP, Mills R, Scanlon MF. Acromegaly and its treatment in the McCune-Albright syndrome. Clin Endocrinol (Oxf) 1992; 36: 605-608
• 20 Melmed S, Colao A, Barkan A , et al; Acromegaly Consensus Group. Guidelines for acromegaly management: an update. J Clin Endocrinol Metab 2009; 94: 1509-1517