scholarly journals Treatment of Pathological Bone Fractures in a Patient with McCune-Albright Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-5
Author(s):  
Jana Kollerova ◽  
Tomas Koller ◽  
Zuzana Zelinkova ◽  
Ludmila Kostalova ◽  
Juraj Payer
Keyword(s):  
Vitamin D ◽  
Bone Fractures ◽  
Genetic Disorder ◽  
Disease Course ◽  
Mccune Albright Syndrome ◽  
High Calcium ◽  
High Doses ◽  
Albright Syndrome ◽  
Severe Hypocalcaemia ◽  
Mccune Albright

McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at the reduction of the risk of fractures. However, due to the complex mechanism of the skeletal damage the standard antiporotic therapeutics are ineffective. We report here a case of a 31-year-old female, diagnosed with the McCune-Albright syndrome in early childhood. She was suffering from extensive bone involvement, complicated by recurrent fractures despite the treatment with bisphosphonates. In addition, the disease course was complicated by the impairment of several endocrine functions—precocious puberty, hyperestrogenism, and hyperthyroidism for which a total thyroidectomy was performed. During the operation, two enlarged parathyroid glands were removed. This resulted in severe hypocalcaemia in the postoperative period with a need for supplementation with very high calcium and vitamin D doses. After this episode, the patient has remained free of fractures. We discuss here the corrected thyroid function, the supplementation with unconventionally high doses of vitamin D and calcium, and the termination of bisphosphonates treatment as presumable factors contributing to the reduced fracture risk in this patient.

scholarly journals Sindrom McCune Albright Dengan Manifestasi Fraktur Berulang

2021 ◽  
Vol 36 (1) ◽  
pp. 24-32
Author(s):  
Ruth Nadya ◽  
Frida Soesanti
Keyword(s):  
Vitamin D ◽  
Fibrous Dysplasia ◽  
Guanine Nucleotide ◽  
Polyostotic Fibrous Dysplasia ◽  
Guanine Nucleotide Binding Protein ◽  
Α Subunit ◽  
Mccune Albright Syndrome ◽  
Guanine Nucleotide Binding ◽  
Albright Syndrome ◽  
Mccune Albright

Abstrak Sindrom McCune-Albright (SMA) merupakan kelainan genetik kompleks yang ditandai dengan trias displasia fibrosa poliostotik, café-au-lait, dan hiperfungsi endokrin. Sindrom ini termasuk penyakit langka dengan prevalens sebesar 1 per 100.000 hingga 1.000.000 populasi. Mutasi somatik sporadik gen GNAS (Guanine Nucleotide binding protein Alpha Stimulating) pada kromosom 20q13, yang terjadi pada sindrom ini, mengakibatkan aktivasi G protein α-subunit (Gsα) berkepanjangan yang meningkatkan aktivitas dan fungsi sel terkait. Manifestasi tersering yang ditemukan pada pasien adalah displasia fibrosa (pada 98% kasus). Kasus adalah seorang anak lelaki, 10 tahun, dengan manifestasi fraktur berulang sejak usia 1 tahun dan deformitas tulang. Pemeriksaan bone survey menunjukkan gambaran ground glass dengan lesi litik-sklerotik pada hampir semua tulang yang sesuai dengan displasia fibrosa poliostotik. Pasien ditata laksana dengan pemberian sediaan fosfat, kalsium, serta vitamin D dalam bentuk aktif dan analog. Pemberian bisfosfonat bertujuan untuk mengurangi nyeri tulang dan risiko fraktur pada pasien. Pemantauan berkelanjutan diperlukan untuk mengevaluasi keterlibatan organ endokrin pada pasien dengan SMA.  Kata kunci: displasia fibrosa, fraktur, sindrom McCune Albright Abstract McCune-Albright syndrome (MAS) is a rare complex genetic disorder marked by the triad of polyostotic fibrous dysplasia, café-au-lait and endocrine hyperfunction, affecting 1 in 100.000 to 1.000.000 population. The sporadic somatic mutation of Guanine Nucleotide Binding Protein Alpha Stimulating (GNAS) gene at chromosome 20q13 is the proposed cause of this syndrome, triggering the prolonged activation of  G protein α-subunit (Gsα), which increases the activity and function of cells. The most common clinical manifestation is fibrous dysplasia, occurring in 98% cases. This case occurred in a 10-year-old boy with recurrent fractures since the age of 1-year-old and skeletal deformities. The bone survey examination shows ground glass appearance with multiple sclerotic-lytic lesions on almost every bone, accordingly to the polyostotic fibrous dysplasia. The pasien has been treated with oral phosphate, calcium and vitamin D. Intravenous bisphosphonates was administered to relieve the associated bone pain and reduce the risk of recurring fractures. Longitudinal observation is necessary for a long term monitoring to evaluate the endocrinopathy associated with MAS.  Keywords: fibrous dysplasia, fractures, McCune-Albright syndrome,

scholarly journals Delayed Diagnosis of McCune–Albright Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Bereket Fantahun ◽  
Seblewongel Desta
Keyword(s):  
Genetic Disorder ◽  
Delayed Diagnosis ◽  
Female Child ◽  
Pathological Fractures ◽  
Mccune Albright Syndrome ◽  
Case Presentation ◽  
Café Au Lait Spots ◽  
Care Outcomes ◽  
Albright Syndrome ◽  
Mccune Albright

Background. McCune–Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies. In general, it is diagnosed clinically. From the triads, two of the findings are enough to make the diagnosis, but genetic testing can be done if it is available. Case Presentation. We report a female child who was symptomatic since the neonatal period with skin hyperpigmentation, breast enlargement, and vaginal bleeding. She was diagnosed with MAS at the age of five years. She had pathological fractures at multiple sites and had raised thyroid hormones since the age of 3½ years. The child developed severe morbidity as the result of delayed diagnosis and currently became wheelchair dependent. Conclusion. Thorough patient evaluation and appropriate interpretation of findings are crucial steps for timely diagnosis of MAS and better patient care outcomes.

scholarly journals A Case of Chronic Bone Pain in Mc-CuneAlbright Syndrome

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A171-A171
Author(s):  
Ravali Nallu ◽  
Aleksandra Sliwinska ◽  
Pamela Taxel
Keyword(s):  
Vitamin D ◽  
Bone Density ◽  
Bone Turnover ◽  
Fibrous Dysplasia ◽  
Bone Pain ◽  
Mccune Albright Syndrome ◽  
Vitamin D Levels ◽  
Patient Reported ◽  
Albright Syndrome ◽  
Mccune Albright

Abstract Introduction: McCune-Albright syndrome (MAS) is a rare genetic disorder that effects the endocrine, skin and bone systems and caused by a somatic mutation in the G protein activating adenylyl cyclase resulting in abnormal osteoblast differentiation and development of fibrous dysplasia (FD). We describe a patient with extensive fibrous dysplasia and severe bone pain in the setting of MAS. Case: A 56-year-old female with a history of MAS was evaluated in the osteoporosis clinic for chronic bone pain. She was diagnosed with MAS at the age of two when she presented with precocious puberty and treated with hormonal blockade. She had multiple orthopedic issues including chronic left hip and lower back pain with impending fracture and pelvic microfractures treated with prophylactic rodding and cement osteoplasty at age 46 and 51 respectively. She was taking Tramadol as needed. The patient reported an inch of height loss, and imaging revealed T4 compression fracture. She was treated with zoledronic acid 4 mg IV on a monthly basis for 1 year without any improvement in bone density or pain symptoms She reached menarche at age 12, and is currently menopausal. Her calcium intake was limited but vitamin D intake was adequate. The patient was quite active performing intense cardio exercises several times a week. Physical exam was remarkable for café-au-lait spots on her left trunk and abdomen not crossing the mid-line. Bone density showed spine DJD, right femoral neck and forearm T scores of -1.1 and -1.6 respectively. Recent CT scan demonstrated multiple lucent lesions in the thoracic spine, bilateral ribs and sternum consistent with fibrous dysplasia. Biochemical evaluation showed high bone turnover; urine NTX of 74 nM BCE/mM creatinine (26–124 nM BCE/mM) and bone specific alkaline phosphatase 80.7 U/L (14.2–42.7) Calcium and vitamin D levels were within limits. The patient initiated denosumab 60mg every 6 months to determine if significant reduction in bone turnover and bone pain would follow. Discussion: As patients with MAS and FD have elevated RANKL levels and increased bone resorption, treatments that reduce bone turnover markers (BTMs) have been studied. Bisphosphonates have demonstrated decline in BTMs but with mixed results regarding improvement of clinical symptoms (1). In a recent study, denosumab, a monoclonal antibody to RANK-L was given at either 3- or 6-month intervals. Patients who received 3-month interval injections demonstrated a sustained suppression of BTM and improvement of pain (2). Thus, denosumab is a promising and well-tolerated agent that may be effective in FD, especially when response to bisphosphonates is inadequate. References: 1. Boyce et al, A randomized, double blind placebo-controlled trial of Alendronate treatment for fibrous dysplasia of the bone 2. Bas C.J Majoor Outcome of Long-term Bisphosphonate therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia.

scholarly journals Intragenic suppression of a constitutively active allele of Gsα associated with McCune–Albright syndrome

2013 ◽  
Vol 50 (2) ◽  
pp. 193-201 ◽  
Author(s):  
Raquel Tobar-Rubin ◽  
Dahlia Sultan ◽  
Daniela Janevska ◽  
Kyle Turcic ◽  
Julie Carroll ◽  
...  
Keyword(s):  
Amino Acid ◽  
Genetic Disorder ◽  
Hek293 Cells ◽  
Constitutive Activity ◽  
Camp Production ◽  
Α Subunit ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Camp Levels ◽  
Mccune Albright

McCune–Albright syndrome (MAS) is a human genetic disorder caused by a mutation that constitutively activates the Gsα subunit by abolishing GTP hydrolysis. MAS patients suffer from a range of endocrinopathies as well as polyostotic fibrous dysplasia of bone. We previously identified an intragenic suppressor of the MAS mutation in a yeast system, which substituted two residues in the GTP-binding site of Gpa1: L318P and D319V to suppress the constitutive activity of an R297H mutation, corresponding to the human F222P, D223V, and R201H mutations respectively. To extend these studies, the human GNAS gene was subjected to site-directed mutagenesis. Constructs expressing the MAS mutation (R201H), the MAS mutation plus the mutations homologous to the yeast suppressors (R201H, F222P/D223V), or the yeast suppressor mutation alone (F222P/D223V) were transfected into HEK293 cells, and basal and receptor-stimulated cAMP levels were measured. Expression of R201H increased the basal cAMP levels and decreased the EC50 for hormone-stimulated cAMP production. These effects were dependent on the amount of R201H protein expressed. R201H, F222P/D223V abolished the constitutive activity of the MAS mutation and caused responses to hormone that were not different from those measured in cells expressing WT Gsα. Interestingly, F222P/D223V behaved similar to R201H in causing increases in basal cAMP production, thus demonstrating constitutive activity. Substitution of another acidic (E) or polar (N, T, and G) amino acid at position 223 caused no suppression of R201H activity, while substitution of a second nonpolar amino acid (A) at this position partially suppressed, and the larger polar I residue completely suppressed the effects of R201H.

scholarly journals The “Phantom of the Opera” sign of craniofacial fibrous dysplasia with unilateral polyostotic involvement in McCune-Albright syndrome

2017 ◽  
Vol 4 (2) ◽  
pp. 43
Author(s):  
W. Phillip Law ◽  
Peter Jackson
Keyword(s):  
Fibrous Dysplasia ◽  
Genetic Disorder ◽  
Polyostotic Fibrous Dysplasia ◽  
Skeletal Scintigraphy ◽  
Facial Bones ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Gnas Gene ◽  
Albright Syndrome ◽  
Mccune Albright

McCune-Albright syndrome is a very rare genetic disorder resulting from a sporadically occurring somatic \textit{GNAS} gene mutation. It is characterised by the association of: endocrinopathy (most commonly precocious puberty), polyostotic fibrous dysplasia, and cutaneous pigmentation with café-au-lait spots with edges resembling the coast of Maine. We present a case of McCune-Albright syndrome with unilateral polyostotic fibrous dysplasia including involvement of the skull and facial bones on one side resulting in an appearance on skeletal scintigraphy resembling the characteristic mask of the “Phantom of the Opera”.

McCune-Albright syndrome onset with vaginal bleeding

2021 ◽  
Vol 14 (7) ◽  
pp. e243401
Author(s):  
Ngo Van Doan ◽  
Nguyen Minh Duc ◽  
Vuong Kim Ngan ◽  
Nguyen Van Anh
Keyword(s):  
Precocious Puberty ◽  
Vaginal Bleeding ◽  
Genetic Disorder ◽  
Brain Mri ◽  
Clinical Signs ◽  
Bone Lesions ◽  
Mccune Albright Syndrome ◽  
Multiple Organs ◽  
Albright Syndrome ◽  
Mccune Albright

McCune-Albright syndrome (MAS), a rare genetic disorder, affects multiple organs and classically presents with the triad of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots) and precocious puberty. Diagnosis occurs when patients manifest at least two of these three symptoms. We describe a 4-year-old girl who was admitted to our hospital due to recurrent vaginal bleeding, initially diagnosed as precocious puberty. On brain MRI, abnormalities in the maxillary and occipital bones were compatible with FD. Clinical examination after craniofacial bone lesions and clinical signs indicated MAS revealed abnormally pigmented macules on the neck and back, which were initially overlooked. No abnormal hormone tests were observed. Precocious puberty is the most common MAS-associated symptom that results in the admission to the hospital, whereas the clinical manifestation of FD in the first years of life is usually equivocal and probably has not been discovered by parents. Thus, comprehensive medical examinations are necessary to obtain a prompt and proper diagnosis.

Craniofacial Fibrous Dysplasia Involvements of Mccune-albright Syndrome: a Review with an Additional Case

2020 ◽  
Vol 16 ◽  
Author(s):  
İlknur Özcan ◽  
Gürkan Ünsal ◽  
Revan Birke Koca ◽  
Kaan Orhan
Keyword(s):  
Fibrous Dysplasia ◽  
Imaging Techniques ◽  
Genetic Disorder ◽  
Craniofacial Skeleton ◽  
Facial Bones ◽  
Radiographic Images ◽  
Mccune Albright Syndrome ◽  
Mesh Terms ◽  
Albright Syndrome ◽  
Mccune Albright

Background: McCune-Albright Syndrome (MAS) is a genetic disorder with a triad of endocrine diseases, caféau-lait macules and fibrous dysplasias. Craniofacial fibrous dysplasia is a term that is used to describe the fibrous dysplasia which were localized at the craniofacial skeleton and it is common in MAS patients. Objective: The objective of this review is to determine the involvement frequency of cranial and facial bones in the patients with MAS and CFD. Methods: Articles in PubMed was searched with the following details “(mccune[Title/Abstract] OR albright[Title/Abstract]) OR ("craniofacial fibrous dysplasia"[MeSH Terms] OR ("craniofacial"[All Fields] AND "fibrous"[All Fields] AND "dysplasia"[All Fields]) OR "craniofacial fibrous dysplasia"[All Fields])”. The articles in which the authors did not stated the involved bones or did not add any radiographic images were excluded from the study. Results: 26 cases in 25 articles which met the inclusion criteria was found. Among the 26 cases and our case, sphenoid and frontal bones were involved in 17 cases, parietal and occipital bones were involved in 15 cases, mandible and ethmoid bone was involved in 14 cases, maxilla-zygoma-temporal and palate was involved in 13, 11, 6 and 3 cases, respectively. Palate was involved in cases where maxilla was also involved. Our case was the only case which was evaluated with CBCT. Conclusion: Routine follow ups are important since new CFDs can occur in different cranial or facial bones. 2D imaging techniques may not be able to demonstrate early CFDs; thus, an advanced imaging technique should be used after MAS diagnosis.

Abstract #39: McCune-Albright Syndrome in Conjunction with Acromegaly and Subclinical Hyperthyroidism

2003 ◽  
Vol 9 ◽  
pp. 15-16
Author(s):  
Manju Chandran ◽  
Eric N. Gold ◽  
Roopa Sathyaprakash ◽  
Leonard J. Deftos
Keyword(s):  
Subclinical Hyperthyroidism ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright
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