Çocuk Sağlığı ve Hastalıkları Dergisi
2010 , Vol 53 , Num 1
Clinical spectrum of somatic activation mutation of Gs alpha-subunit:report of two cases and review of the literature.
Sağlık Bakanlığı Ankara Eğitim ve Araştırma Hastanesi 1Pediatri Doçenti, 2Pediatri Araştırma Görevlisi, 3Radyoloji
Uzmanı, 4Nükleer Tıp Uzmanı
The activation mutation of Gsα subunit appears in three distinctive clinical
patterns: single bone involvement (monostotic form), which is the most
common presentation (70% of patients); multiple bone involvement (polyostotic
form), a less common form (30%); and McCune-Albright syndrome, a rare
variant of the polyostotic form with pigmentation and one or multiple endocrine
hyper functions. We report here two cases of Gsα subunit mutation. One of
the cases was polyostotic fibrous dysplasia in a five-year-old boy and the other
case was McCune-Albright syndrome presented with combined precocious
puberty. Treatment of the polyostotic fibrous dysplasia was unsuccessful;
however, the combined precocious puberty was treated successfully. We
conclude that the progression and response to treatment of bone fibrous
dysplasia is age-dependent. This conclusion is based on the many studies
that have reported clinical and radiological improvement in bone fibrous
dysplasia with pamidronate treatment in adult patients; however, the same
successful results were not achieved in childhood.
Anahtar Kelimeler :
Gsα altyapısı, mutasyon, polrostatik fibroz displazi, McCune,
Albright sendromu.