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 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”.

Atypical Femoral Fracture in McCune-Albright Syndrome

2020 ◽  
Vol 7 (3) ◽  
pp. 147-152
Author(s):  
Salman Ghaffari ◽  
◽  
Mehran Razavipour ◽  
Parastoo Mohammad Amini ◽  
◽  
...  
Keyword(s):  
Femoral Fracture ◽  
Dynamic Compression ◽  
Plate Fixation ◽  
Medullary Canal ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
History Of ◽  
Albright Syndrome ◽  
Mccune Albright

McCune-Albright Syndrome (MAS) is characterized by endocrinopathies, café-au-lait spots, and fibrous dysplasia. Bisphosphonates are the most prescribed treatment for reducing the pain but their long-term use has been associated with atypical fractures of cortical bones like femur in patients. We present a 23-year-old girl diagnosed with MAS. She had an atypical mid-shaft left femoral fracture that happened during simple walking. She also had a history of long-term use of alendronate. Because of the narrow medullary canal, we used 14 holes hybrid locking plate for the lateral aspect of the thigh to fix the fracture and 5 holes dynamic compression plate (instead of the intramedullary nail) in the anterior surface to double fix it, reducing the probability of device failure. With double plate fixation and discontinuation of alendronate, the complete union was achieved five months after surgery

scholarly journals McCune-Albright Syndrome with Exophthalmos: A Case Report

2018 ◽  
Author(s):  
Jinrong Zhao ◽  
Jinguo Yu
Keyword(s):  
Clinical Practice ◽  
Fibrous Dysplasia ◽  
Skin Pigmentation ◽  
Rare Condition ◽  
Skeletal Deformity ◽  
Mccune Albright Syndrome ◽  
Case Presentation ◽  
Fibrous Dysplasia Of Bone ◽  
Albright Syndrome ◽  
Mccune Albright

Abstract Background: McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require the rapeutic support to reduce bone pain and prevent fractures and deformities.we reported 1 case of McCune-Albright syndrome with exophthalmos in clinical practice. Case presentation:A 35-year-old female was admitted to our hospital who complained about “skin pigmentation for 35 years, vaginal bleeding for 30 years and progressive skeletal deformity for 28 years and exophthalmos for 2 years. And after the examination, she was been diagnosed with“McCune-Albright syndrome with exophthalmos”.We highlighted the pathogenesis and development of the disease in this rare condition. Conclusion: McCune-Albright syndrome with exophthalmos due to multiple fibrous dysplasia is rare but can be seen in clinical practice.

scholarly journals McCune Albright Syndrome: A Case Report

2020 ◽  
Vol 40 (2) ◽  
pp. 134-137
Author(s):  
Subhana Thapa Karki ◽  
Vandana Jain
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Precocious Puberty ◽  
Genetic Disease ◽  
Clinical Presentation ◽  
Endocrine Disorders ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

McCune Albright syndrome (MAS) is a very rare genetic disease characterised by any two of the following three findings: café au lait spots, polyosteotic fibrous dysplasia and endocrine disorders. The clinical presentation of MAS may vary depending on which of the various components of the syndrome predominate. Here, we report one case of MAS presenting with precocious puberty.

scholarly journals “Café-Au-Lait Spots” Caused by Vitiligo in McCune-Albright Syndrome

2000 ◽  
Vol 15 (12) ◽  
pp. 2521-2523
Author(s):  
Michael P. Whyte ◽  
Michelle N. Podgornik ◽  
Jan Zerega ◽  
William R. Reinus
Keyword(s):  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

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.

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