Article

Progressive proptosis in a teenager

Our patient was a 17-year-old female who presented with a one-month history of left lower eyelid swelling that was preceded by an upper respiratory infection. She had no underlying medical problems and no constitutional symptoms.

THE OCULAR EXAM

Our exam revealed the following:

  • Distance VA without correction: 20/20-2 OD, 20/20-1 OS
  • Pupils: reactive without afferent pupillary defect OU
  • IOP: 21 mm Hg OD, 22 mm Hg OS with Tono-Pen
  • External exam: left lower lid edema with distensible, cystic nontender lesions of the inferior and lateral orbit present on palpation that did not enlarge with Valsalva maneuver, with associated superonasal displacement of the left globe and 3-mm proptosis (Figure 1)
  • Figure 1. External photos of patient taken at weeks one, three, and five demonstrating progressive left superonasal globe displacement with left lower eyelid edema (Note: Week five photo taken post-sclerotherapy attempt. Photos used with permission.)

  • Anterior and posterior segments: unremarkable

CT (scan) maxillofacial demonstrated a cystic bilobed lesion of the inferior and lateral left orbit (Figure 2, page 55).

Figure 2. CT maxillofacial scan demonstrating superficial cystic bilobed lesion of left inferior and lateral orbit.

A PRELIMINARY DIAGNOSIS

Given the patient’s age and history, she was initially thought to have an orbital lymphangioma. Orbital lymphangiomas are abnormal, low-flow vascular channels that form due to cellular signaling dysregulation, which leads to irregular proliferation of endothelial cells.1,2 Orbital lymphangiomas usually are diagnosed before 16 years. Patients present with eyelid swelling, ptosis, proptosis, pain or eye motility restriction.3 Management consists of surgical resection or intralesional injection of a sclerosing agent such as sodium morrhuate 5% or doxycycline, which has been shown to decrease lesion size.1,4 The patient was started on prednisone and referred to interventional radiology (IR) for sclerotherapy.

AN UNEXPECTED TURN

Care with IR began, but the patient experienced multiple failed attempts at percutaneous sclerotherapy. Our service then performed an orbitotomy with excisional biopsy, wherein intraoperative frozen tissue sections demonstrated small blue cells; final pathology read orbital embryonal rhabdomyosarcoma, with immunohistochemical studies demonstrating antibodies to the protein desmin.

Orbital rhabdomyosarcoma (RMS) is the most common mesenchymal tumor of childhood.5 While cases have been reported across age groups, orbital RMS typically presents in the first decade with rapidly worsening proptosis and/or globe displacement.6,7 CT imaging of RMS often shows a well-delineated, homogenous mass external to the muscle cone, isodense to muscle tissue, and if diagnosed early in the disease course, usually without associated bony destruction.8

The three histological subtypes of RMS are pleomorphic, embryonal and alveolar. Embryonal is the most common, and alveolar has the worst, meaning life-threatening, prognosis.9,10 Immunohistochemical studies are diagnostically valuable in RMS as antibodies to desmin and vimentin are sensitive markers of disease presence.11 Treatment selection and regimen intensity are determined by postbiopsy staging. The earliest stage warrants chemotherapy only, and later stages require chemotherapy plus radiotherapy at progressively larger doses.12

After biopsy results were finalized, the patient was referred to an oncologist for systemic work-up and initiation of chemotherapy and radiation.

TAKE-HOME POINT

Rhabdomyosarcoma is one of the few life-threatening diagnoses that presents to ophthalmologists. This case demonstrates the importance of maintaining a high index of suspicion for this malignancy in a young patient with a new and rapidly growing orbital mass. OM

REFERENCES

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