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Fibrodysplasia ossificans progressiva

By A Nucci, LD Queiroz, AD Santos, EE Camargo and MVL Moura-Ribeiro

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 valgous and ventricular septal defect, corrected by transsternal 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 waif. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment

Topics: fibrodysplasia ossificans progressiva, myositis ossificans, muscle biopsy, rigid spine, Tc-99m-MDP scan, etidronate treatment
Publisher: Assoc Arquivos De Neuro- Psiquiatria
Year: 2015
DOI identifier: 10.1590/S0004-282X2000000200023
OAI identifier: oai:agregador.ibict.br.RI_UNICAMP:oai:repositorio.unicamp.br:REPOSIP/66916
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