Fibrodysplasia ossificans progressiva: case report

ANAMARLI NUCCI, LUCIANO DE SOUZA QUEIROZ, ALLAN DE OLIVEIRA SANTOS, EDWALDO E CAMARGO, M VALERIANA L MOURA-RIBEIRO
2000 Arquivos de Neuro-Psiquiatria  
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 transsternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared.
more » ... cation 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.
doi:10.1590/s0004-282x2000000200023 pmid:10849638 fatcat:uvia3tnmtzbmxp33kzfwebhgv4