title: Fibrodysplasia ossificans progressiva: case report.
abstract: Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report on a male child followed for ten years since the age of 3 years and 9 months, when the diagnosis was made. He was born with bilateral hypoplasic hallux valgus and ventricular septal defect, corrected by trans-sternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared. Four crises of disease exacerbation were treated with oral prednisone and/or other antiinflammatory drugs. Sodium etidronate 5 to 10 mg/kg/day was prescribed intermittently during about six years but was discontinued due to osteopenia. The disease course has been relentless, with severe movement restriction including the chest wall. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment.
authors.affiliation: Department of Neurology, Faculty of Medicine, State University of Campinas (UNICAMP), SP, Brasil.
authors.forename: A
authors.initials: A
authors.lastname: Nucci
authors.forename: L D
authors.initials: LD
authors.lastname: Queiroz
authors.forename: A D
authors.initials: AD
authors.lastname: Santos
authors.forename: E E
authors.initials: EE
authors.lastname: Camargo
authors.forename: M V
authors.initials: MV
authors.lastname: Moura-Ribeiro
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D012968:Etidronic Acid / Q000627:therapeutic use; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009221:Myositis Ossificans / Q000000981:diagnostic imaging / Q000188:drug therapy; D011877:Radionuclide Imaging; D013669:Technetium Tc 99m Medronate
chemical_list: D012968:Etidronic Acid; D013669:Technetium Tc 99m Medronate