scholarly journals Oral Alendronate Treatment for Severe Polyostotic Fibrous Dysplasia due to McCune-Albright Syndrome in a Child: A Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Ana Luiza Andrade Aragão ◽  
Ivani Novato Silva
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Polyostotic Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Alendronate Treatment ◽  
Albright Syndrome ◽  
Mccune Albright

Polyostotic Fibrous Dysplasia Related to Mccune Albright Syndrome: Case Report

2014 ◽  
Vol 117 (2) ◽  
pp. e131
Author(s):  
MATHEUS HENRIQUE ALVES DE LIMA ◽  
AMANDA LAÍSA DE OLIVEIRA LIMA ◽  
THAYNÁ MELO DE LIMA MORAIS ◽  
KARINE CÁSSIA BATISTA LÚCIO E SILVA ◽  
KARTLAND VIEIRA DE LUNA PAIVA ◽  
...  
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Polyostotic Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

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.

Polyostotic fibrous dysplasia with gigantism and huge pelvic tumor: a rare case of McCune–Albright syndrome

2010 ◽  
Vol 16 (3) ◽  
pp. 270-274 ◽  
Author(s):  
Kenshi Sakayama ◽  
Yoshifumi Sugawara ◽  
Teruki Kidani ◽  
Taketsugu Fujibuchi ◽  
Katsumi Kito ◽  
...  
Keyword(s):  
Fibrous Dysplasia ◽  
Rare Case ◽  
Pelvic Tumor ◽  
Polyostotic Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

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,

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