Fibrodysplasia ossificans progressiva: case report

Arq Neuropsiquiatr. 2000 Jun;58(2A):342-7. doi: 10.1590/s0004-282x2000000200023.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child, Preschool
  • Etidronic Acid / therapeutic use
  • Follow-Up Studies
  • Humans
  • Male
  • Myositis Ossificans* / diagnostic imaging
  • Myositis Ossificans* / drug therapy
  • Radionuclide Imaging
  • Technetium Tc 99m Medronate

Substances

  • Etidronic Acid
  • Technetium Tc 99m Medronate