Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva.
Fibrodysplasia ossificans progressiva (FOP) is a rare, autosomal dominant disorder characterized by congenital malformation of the great toes and episodes of soft tissue swelling that lead to progressive heterotopic ossification. The genetic cause of FOP was recently discovered to be a recurrent missense activating mutation in the activin A type I receptor, a bone morphogenetic protein type I receptor in all classically affected individuals worldwide. The authors present a child with the classic features of previously undiagnosed FOP who developed a paraspinal soft-tissue mass after a lumbar puncture for a fever workup. Excision of the mass resulted in a massive inflammatory response leading to progression of heterotopic ossification. Awareness of the classic clinical features of FOP prior to the appearance of heterotopic ossification can prompt early clinical diagnosis and confirmation through genetic testing, thus avoiding interventions that lead to irreversible iatrogenic harm.
Zaghloul
Kareem A
KA
Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Heuer
Gregory G
GG
Guttenberg
Marta D
MD
Shore
Eileen M
EM
Kaplan
Frederick S
FS
Storm
Phillip B
PB
D001706:Biopsy; D055395:Bone Morphogenetic Protein 1; D019485:Bone Morphogenetic Proteins / Q000378:metabolism; D002648:Child; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D006801:Humans; D007049:Iatrogenic Disease; D007223:Infant; D008666:Metalloendopeptidases / Q000378:metabolism; D009221:Myositis Ossificans / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D019637:Orthopedic Procedures / Q000379:methods*; D009999:Ossification, Heterotopic / Q000235:genetics / Q000473:pathology / Q000601:surgery; D013129:Spinal Puncture; D013628:Talus / Q000002:abnormalities
D019485:Bone Morphogenetic Proteins; D008666:Metalloendopeptidases; C525705:BMP1 protein, human; D055395:Bone Morphogenetic Protein 1