Newborn With Unilateral Exophthalmos and Rapidly Growing Par
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A male newborn was noted to have right eye and right cheek masses at birth. His prenatal course was complicated by maternal drug use, hepatitis C, and lack of routine prenatal care. Intraocular pressure of the right eye was elevated to 31 mm Hg. Parotid ultrasonography demonstrated a lobulated solid vascular mass measuring 2.1 cm. The infant was referred to the ophthalmology and otolaryngology service. At the age of 5 weeks, a swollen right eye with a foggy cornea and conjunctival vascular anomaly were noted. A soft, mobile, right parotid mass had doubled in size.

Ocular B-scan ultrasonography revealed a large subretinal lesion with multiple intralesional, hyperechoic foci extending temporally from the optic disc to the periphery. Results of (MRI) showed an intraocular mass in the right eye, with faint contrast enhancement thought to represent intratumoral calcification or hemorrhage, and a well-circumscribed, 3.1-cm, right superficial parotid mass with faint enhancement.

18F-fludeoxyglucose–positron emission tomography (FDG-PET) showed hypermetabolic masses at the posterior aspect of the right globe, the lateral aspect of the orbit, and the right parotid gland. The presentation is consistent with atypical teratoid/rhabdoid tumor (AT/RT). This case is unique, as AT/RT more commonly presents as a (CNS) malignancy and rarely as an infratentorial or spinal lesion. Moreover, the infant presented with 2 masses that were either metastatic disease or 2 synchronous tumors at birth.

Multimodal therapy has been the most successful treatment for these tumors. For this patient, a neoadjuvant-modified non-CNS malignant rhabdoid regimen of cyclophosphamide, hydroxydaunomycin (doxorubicin), Oncovin (vincristine), and prednisone (CHOP) with actinomycin D, etoposide, and cisplatin was selected. Gross total resection has been associated with improved event-free survival and overall survival. Right enucleation and right parotidectomy were performed when the infant was 3 months old. After 15 chemotherapy cycles over the next 8 months, the patient began maintenance therapy with alisertib.

Chemotherapy was complicated by dose reductions and delays owing to recurrent neutropenia, vomiting, and failure to thrive. At the time of writing, 18 months had passed since diagnosis. Mean survival time in AT/RT is 10 months in spinal cases, and overall survival is 65.0%, 46.8%, and 28.3% at 6 months, 1 year, and 5 years, respectively. This case represents a unique presentation of AT/RT, and the outcome has exceeded mean survival, possibly because of early recognition and aggressive treatment.