Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome.

Autor: Miri O; Cliniques Universitaires Saint-Luc, Service d'Orthopédie et de Traumatologie de l'Appareil Locomoteur, Avenue Hippocrate 10, B-1200 Brussels, Belgium., Bonnet N; Cliniques Universitaires Saint-Luc, Service d'Endocrinologie Pédiatrique, Avenue Hippocrate 10, B-1200 Brussels, Belgium., Lysy P; Cliniques Universitaires Saint-Luc, Service d'Endocrinologie Pédiatrique, Avenue Hippocrate 10, B-1200 Brussels, Belgium., Loucheur N; Cliniques Universitaires Saint-Luc, Service d'Orthopédie et de Traumatologie de l'Appareil Locomoteur, Avenue Hippocrate 10, B-1200 Brussels, Belgium., Gayito R; Cliniques Universitaires Saint-Luc, Service d'Orthopédie et de Traumatologie de l'Appareil Locomoteur, Avenue Hippocrate 10, B-1200 Brussels, Belgium., Docquier PL; Cliniques Universitaires Saint-Luc, Service d'Orthopédie et de Traumatologie de l'Appareil Locomoteur, Avenue Hippocrate 10, B-1200 Brussels, Belgium.; Université Catholique de Louvain, Secteur des Sciences de la Santé, Institut de Recherche Expérimentale et Clinique, Neuro Musculo Skeletal Lab (NMSK), Avenue Mounier 53, B-1200 Brussels, Belgium.
Jazyk: angličtina
Zdroj: Case reports in orthopedics [Case Rep Orthop] 2018 Dec 06; Vol. 2018, pp. 7698052. Date of Electronic Publication: 2018 Dec 06 (Print Publication: 2018).
DOI: 10.1155/2018/7698052
Abstrakt: Noonan-like/multiple giant cell lesion (NS/MGCL) is a rare condition overlapping with Noonan syndrome. Once thought to be a specific and separate entity, it is now suggested to be a variant of the Noonan syndrome spectrum. We report the case of an 8-year-old boy with a typical clinical picture of Noonan syndrome with a de novo germline mutation of PTPN11 (c.854 T>C). During his follow-up, the patient developed multifocal pigmented villonodular synovitis which first affected the left knee and shortly after both elbows.
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje