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Fibrodysplasia ossificans progressiva: case report
Andre Leite Gonçalves1, Marcelo Rodrigues Masruha, Carmelinda Correia de Campos
1Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, SP, Brazil. goncalvesnp@yahoo.com.br
Arquivos De Neuro-Psiquiatria
|January 10, 2006
Summary
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing bone to form in muscles and connective tissues. This case study details a young girl
Area of Science:
- Genetics and rare diseases
- Orthopedics
- Rheumatology
Background:
- Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant genetic disorder.
- Characterized by progressive heterotopic ossification and congenital malformations, typically of the great toes.
Observation:
- A nine-year-old girl presented with clinical and radiological signs of FOP.
- She had bilateral hallux valgus at birth and developed a painful cervical mass at age nine.
- Reduced range of motion in the spine and shoulder girdle, with thoracic heterotopic ossification observed radiographically.
Findings:
- The patient experienced two disease flare-ups treated with prednisone.
- Continuous therapy included a Cox-2 inhibitor and montelukast post-flare-ups.
- Radiographic evidence confirmed heterotopic ossification in the thoracic region.
Implications:
- This case highlights the clinical presentation and management challenges of FOP in pediatric patients.
- It underscores the importance of early diagnosis and multidisciplinary management for FOP.
- Further research into effective long-term treatments for FOP is warranted.