Polyostotic Fibrous Dysplasia of Ribs

34 yr old female presenting with pain lower part of left side chest was found to have incidental radiological finding which revealed a rare genetic condition of ribs.

Secondary amenorrhea in a case of gonadotropin independent precocious puberty: McCune-Albright syndrome

Precocious puberty may be gonadotropin dependent or gonadotropin independent and due to a myriad of causes including syndromic association. McCune-Albright syndrome (MAS) is a rare disorder, characterized by the triad of precocious puberty, polyostotic fibrous dysplasia of bone and café-au-lait macules. Here, we describe a case of childhood onset gonadotropin independent precocious puberty who presented at 19 years of age with secondary amenorrhea. On detailed evaluation, she was found to have multiple café au lait spots and polyostotic fibrous dysplasia and diagnosis of MAS were made. Typically, the lesions of fibrous dysplasia are most active during childhood and adolescence, tending to become quiescent in adult life, new active lesions being rare in adults. In our case, despite fibrous dysplasia being asymptomatic on presentation, there were multiple active polyostotic lesions with bilateral encroachment of optic foramina, which is rare at this age. This case highlights the fact that careful examination for syndromic features and periodic follow up are important in all cases of precocious puberty.

Sindrom McCune Albright Dengan Manifestasi Fraktur Berulang

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,