Abstract
Fibrous dysplasia (FD) is a benign bone disease characterized by expansile lesions that typically stabilize with age. Rarely, FD can undergo malignant transformation, presenting with atypical, rapid growth and destruction of adjacent bone. Other potential causes of rapid FD expansion include secondary lesions, such as aneurysmal bone cysts. We describe a case of an aggressive occipital lesion that presented with pain associated with diplopia and tinnitus, raising concern for malignant transformation. A massive intraosseous arteriovenous fistula was identified giving rise to an anomalous vein coursing to the cavernous sinus with compression of the abducens nerve. The vascular anomaly was mapped and after embolization symptoms resolved; a biopsy with extensive genetic analyses excluded malignancy. The differential diagnosis for expanding FD lesions includes aggressive FD, malignant transformation, and secondary vascular anomalies. In cases when traditional radiographic and histologic assessments are nondescript, use of additional radiographic modalities and genetic analyses are required to make an accurate diagnosis and guide treatment. When vascular anomalies are suspected, detailed angiography with embolization is necessary to define and treat the lesion. However, to rule out malignant transformation, genetic screening is recommended.
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This research was funded by the Intramural Research Programs of the NIDCR.
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KSP involved in conceptualization, methodology, investigation, visualization, and writing—original draft. LFdC and KLR participated in investigation and writing—review and editing.EDG, AMB, and EJF took part in clinical care, investigation, and writing—review and editing. CRD participated in clinical care, investigation, resources, and writing—review and editing. MTC involved in clinical care, conceptualization, supervision, resources, investigation, and writing—review and editing.
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Kristen S. Pan, Luis F. de Castro, Kelly L. Roszko, Edward D. Greenberg, Edmond J. FitzGibbon, Craig R. Dufresne, Alison M. Boyce, and Michael T. Collins declare that they do not have conflicts of interest to disclose.
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The study was approved by the NIDCR Institutional Review Board.
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The patient was enrolled in the NIH FD/MAS natural history study (NCT00001727). Informed consent was obtained for participation in the study and for publication of results.
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Supplementary file1 (MP4 10640 kb) Supplemental Video 1. Animated 3D reconstruction of the cranium and vascular structures that demonstrate the arterial blood supply to the occipital arteriovenous fistula and the aneurysms that arose from the anomalous draining vein and were the cause of the abducens nerve palsy.
Supplementary file2 (MP4 155679 kb) Supplemental Video 2. Serial pre- and post-embolization arteriographic images of the arterial blood supply to the occipital intraosseous arteriovenous fistula and the anomalous venous drainage and aneurysms. The first series depicts the external carotid artery injection that demonstrates the middle meningeal artery and posterior branches and their contribution to the arteriovenous fistula, followed by their disappearance or truncation after embolization. The second series is the pre- and post-injection images of the vertebral artery that demonstrates the dural and muscular branches and their contribution to the arteriovenous fistula, again followed by their disappearance or truncation after embolization.
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Pan, K.S., de Castro, L.F., Roszko, K.L. et al. Successful Intravascular Treatment of an Intraosseous Arteriovenous Fistula in Fibrous Dysplasia. Calcif Tissue Int 107, 195–200 (2020). https://doi.org/10.1007/s00223-020-00712-4
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DOI: https://doi.org/10.1007/s00223-020-00712-4