History and Physical
A male infant presented immediately postpartum with redness and swelling of the eye, initially ascribed to a traumatic forceps delivery. He had a left periorbital hematoma and contralateral cephalohematoma. There was no other medical history or family history of eye anomalies. The ocular abnormality persisted over time, and ophthalmological assessment suggested a developmental anomaly of the globe. The periorbital tissues became progressively more swollen over time despite antibiotic therapy.
Diagnostic Workup
Brain MRI at presentation ( Fig. 46.1 ) demonstrated a small left globe infiltrated by heterogeneous T2-hypointense and T1-hyperintense signal, with overlying periorbital fluid.
Orbital rhabdoid metastasis. Brain MRI, (A) axial T2 demonstrates a small left globe with heterogeneous infiltration by T2-hypointense tissue ( arrow ) and overlying periorbital fluid ( arrowhead ). (B) Axial T1 demonstrates intrinsic hyperintensity ( arrow ) concerning for hemorrhage or proteinaceous material.
Head CT with contrast 2 weeks later ( Fig. 46.2 ) demonstrated new left proptosis with growing hyperdense orbital mass showing diffuse choroidal invasion and focal extrascleral invasion with exophytic component in the retrobulbar space.
Orbital rhabdoid metastasis. Postcontrast head CT 2 weeks after presentation shows growing mass ( arrow ) with new left proptosis, soft tissue infiltration of the globe, diffuse choroidal invasion with circumferential nodular tissue, and exophytic extension into the retrobulbar space with mild remodeling of the lateral orbital wall.
Brain MRI performed 3 weeks after presentation ( Fig. 46.3 ) demonstrated continued growth of the orbital mass with T2-hypointense signal and heterogeneous enhancement indicating hypercellular tumor. There was extrascleral invasion along the lateral globe with encasement of the optic nerve, lateral rectus, and superior rectus-levator complex and mild remodeling of the bony orbit.
Orbital rhabdoid metastasis. Brain MRI 3 weeks after presentation, (a) axial T2 shows continued growth of heterogeneously hypointense soft tissue mass ( arrow ) replacing the left globe with diffuse choroidal invasion and exophytic component in the retrobulbar space with encasement of the optic nerve, lateral rectus, and superior rectus-levator complex. (B) Axial T2 shows extrascleral invasion through the lateral globe ( arrow ), remodeling the lateral orbital wall. (C) Axial T1 postcontrast demonstrates avid heterogeneous tumor enhancement with overlying periorbital inflammation.
