Fibrodysplasia ossificans progressiva: case report

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 bilat...

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Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 2000-06, Vol.58 (2A), p.342-347
Main Authors: Nucci, A, Queiroz, L D, Santos, A D, Camargo, E E, Moura-Ribeiro, M V
Format: Article
Language:English
Subjects:
99mTc-MDP scan
Adolescent
Child, Preschool
etidronate treatment
Etidronic Acid - therapeutic use
fibrodysplasia ossificans progressiva
Follow-Up Studies
Humans
Male
muscle biopsy
myositis ossificans
Myositis Ossificans - diagnostic imaging
Myositis Ossificans - drug therapy
NEUROSCIENCES
PSYCHIATRY
Radionuclide Imaging
rigid spine
Technetium Tc 99m Medronate
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Summary: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.
ISSN:0004-282X
1678-4227
0004-282X
1678-4227
DOI:10.1590/s0004-282x2000000200023