Pamidronic acid and cabergoline as effective long-term therapy in a 12-year-old girl with extended facial polyostotic fibrous dysplasia, prolactinoma and acromegaly in McCune-Albright syndrome: a case report

Abstract

IntroductionMcCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene. The phenotype is very heterogeneous and includes polyostotic fibrous dysplasia, typically involving the facial skull, numerous café-au-lait spots and autonomous hyperfunctions of several endocrine systems, leading to hyperthyroidism, hypercortisolism, precocious puberty and acromegaly.Case presentationHere, we describe a 12-year-old Caucasian girl with severe facial involvement of fibrous dysplasia, along with massive acromegaly due to growth hormone excess and precocious puberty, with a prolactinoma. Our patient was treated with a bisphosphonate and the prolactin antagonist, cabergoline, resulting in the inhibition of fibrous dysplasia and involution of both the prolactinoma and growth hormone excess. During a follow-up of more than two years, no severe side effects were noted.ConclusionTreatment with bisphosphonates in combination with cabergoline is a suitable option in patients with McCune-Albright syndrome, especially in order to circumvent surgical interventions in patients suffering from polyostotic fibrous dysplasia involving the skull base.

McCune–Albright syndrome: description of three clinical cases, features of diagnostics and treatment

“…Препаратами 1-й линии являются аналоги соматостатина пролонгированного действия, при неэффективностив комбинации с антагонистом рецептора гормона роста -пегвисомантом [5,13]. Гиперпролактинемия при синдроме МОБ хорошо поддается лечению агонистами дофамина -каберголином [5,14,15]. Хирургическое удаление аденомы гипофиза применяется только в случаях неэффективности медикаментозной терапии, поскольку поражение гипофиза при синдроме МОБ может иметь диффузный характер, что обуславливает отсутствие четкой визуализации аденомы гипофиза на МРТ.…”

“…При наличии невропатической боли рекомендуется в качестве терапии рассмотреть прием нетипичной анальгетической линии терапии -амитриптилин, прегабалин, дулоксетин [1,16]. В последнее время с целью уменьшения болевого синдрома стали рассматривать использование препаратов группы бисфосфонатов [14,16]. Например, проводили исследование возможности приема алендроната, которое показало низкую эффективность препарата для уменьшения болевого синдрома при ФД костей [17].…”

McCune albright syndrome with severe facial disfigurement

“…Other hyper-functionning endocrinopathies can also be associated to the classical triad such as growth hormone hypersecretion leading to acromegaly in adults and gigantism in children (16). In those cases rhinoseptal or endonasal surgery are challenging in patient with severe bone dysplasia of the skull base.…”

Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone

“…Since then, a number of publications reported variable beneficial effects of different bisphosphonates on pain, bone turnover markers and radiological features of FD/MAS lesions largely in adults and children with polyostotic FD/MAS. These publications include 18 case reports , 20 observational case series and a single randomized controlled study (RCT) using oral alendronate .…”

“…Case reports were predominantly on women (11/18), seven on children and six reporting the effects of treatment with zoledronate and pamidronate in patients with isolated craniofacial FD (CFD) . Positive outcome of treatment in the form of decreased pain was reported in all patients, associated by a concomitant normalization in bone turnover markers in six of the 17 patients in whom these markers were measured before and after treatment .…”