Abstract
Purpose :
Embryonal tumor with multilayered rosettes (ETMR) is a rare, newly classified WHO grade IV, highly malignant variant of the primitive neuroectodermal tumor. Ophthalmologic findings associated with this tumor have not been previously described.
Methods :
We performed a retrospective, observational review of children diagnosed and treated with ETMR at our tertiary care children’s hospital over the past six years. A total of five patients were identified. Three children had suspected ocular abnormalities and were referred for ophthalmologic evaluation. We reviewed the charts of these three patients and describe the ophthalmologic findings.
Results :
Patient 1 was a 2-year-old girl with a tumor located in the right pons extending along the cerebral peduncle who presented with ataxia and esotropia. She was found to have a right abducens palsy and amblyopia of the right eye, and amblyopia treatment was initiated. Patient 2 was a 2-year-old girl with a primary tumor in the right midbrain and pons with extensive leptomeningeal dissemination who presented with right facial weakness, imbalance, intermittent emesis, and nystagmus. She was found to have gaze-evoked right beating and upbeat nystagmus, leading to a preference for left gaze and downgaze. Her therapists were advised not to inhibit the face turn that she adopted to minimize oscillopsia. Patient 3 was diagnosed at 2 weeks old with a posterior fossa tumor involving the roof of the 4th ventricle, superior medullary velum, and surrounding vermis after prenatal testing revealed hydrocephalus. She developed abducens palsy after tumor resection and ventriculoperitoneal shunt placement. Outpatient ophthalmology evaluation was recommended, but the patient did not follow up. The abducens palsy remained persistent at 3 year follow up with oncology despite disease remission.
Conclusions :
This case series suggests that ophthalmologic findings are common in children with ETMR and may require treatment and/or inform systemic therapies. It is important for clinicians to assess vision and ocular motility and consider ophthalmology referral in children with ETMR.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.