Case report reveals retinal detachment and laryngeal plexiform neurofibroma in a toddler with neurofibromatosis type 1, highlighting the need for systemic screening in pediatric vision loss.
PURPOSE: To present a 22-month-old girl with a complete retinal detachment who was found to have systemic exam findings consistent with neurofibromatosis type 1 during the course of multi-specialty exam under anesthesia. OBSERVATIONS: During examination under anesthesia, ophthalmic exam findings demonstrated retinal detachment with cyst formation, as well as peripheral non-perfusion of the retina in the left eye. Non-ophthalmic findings discovered on difficulty with intubation included a laryngeal plexiform neurofibroma and café-au-lait spots. CONCLUSIONS: Pediatric retinal detachments are uncommon compared to those in adults. Pediatric patients with neurofibromatosis type 1 can present with vision loss as the presenting symptom. Systemic signs and symptoms should be carefully screen and monitored.
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