Lumbar puncture and surgical intervention in a child with undiagnosed fibrodysplasia ossificans progressiva

Case report

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✓ 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.

Abbreviations used in this paper: FOP = fibrodysplasia ossificans progressiva; LP = lumbar puncture; MR = magnetic resonance.

Article Information

Address correspondence to: Phillip B. Storm, M.D., Division of Neurosurgery, Children's Hospital of Philadelphia, 6th Floor, Wood Building, 34th Street and Civic Center Boulevard, Philadelphia, Pennsylvania 19104. email: storm@email.chop.edu.

© AANS, except where prohibited by US copyright law.

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Figures

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    Sagittal MR images of the spine obtained in a child with a preosseous FOP lesion. Left: Sagittal T2-weighted image obtained on presentation 2 weeks after LP. A soft-tissue mass (arrow) extending from T-9 to S-1 was demonstrated. Right: Sagittal T2-weighted image obtained in the patient postoperatively to confirm resection of the soft-tissue mass.

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    Photomicrograph of a section of the pathological specimen obtained during resection demonstrating proliferating spindle cells consistent with fibroblasts in a variable, highly vascular, compact and loose zonal arrangement with a moderate amount of pink collagen deposition. These are characteristic histopathological findings in an early preosseous FOP lesion. H & E, original magnification × 300.

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    Sagittal T2-weighted MR image obtained in the patient on his return to the emergency department on postoperative Day 4 demonstrating a large fluid collection extending over the length of his back (arrow).

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    Illustrations of signs relevant to the clinical diagnosis of FOP. A: Photograph of the patient's feet demonstrating short great toes and hallux vagus. B: Postoperative photograph of the patient's back demonstrating the continued presence of tumorlike swellings. C: Chart showing the differential diagnosis consistent with clinical findings of malformed great toes and tumorlike swellings. When both are present, the diagnosis is FOP.

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