Neurofibromatosis type 1 presenting with retinal detachment and laryngeal plexiform neurofibroma in a toddler

Hong-Uyen Hua; Rosanna Martens; Sarah Parker Read; Linda A Cernichiaro-Espinosa; Brenda Fallas; Armando L Oliver; Ramzi Younis; Luis Rodriguez; Audina M Berrocal

doi:10.1016/j.ajoc.2021.101170

Neurofibromatosis type 1 presenting with retinal detachment and laryngeal plexiform neurofibroma in a toddler

Am J Ophthalmol Case Rep. 2021 Jul 22:23:101170. doi: 10.1016/j.ajoc.2021.101170. eCollection 2021 Sep.

Authors

Hong-Uyen Hua¹, Rosanna Martens², Sarah Parker Read¹, Linda A Cernichiaro-Espinosa³, Brenda Fallas¹, Armando L Oliver⁴, Ramzi Younis⁵, Luis Rodriguez⁶, Audina M Berrocal¹

Affiliations

¹ Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, 900 NW 17th St Miami, FL, 33136, USA.
² Department of Ophthalmology and Visual Sciences, University of British Columbia, 2550 Willow Street, Vancouver, BC, V5Z 3N9, Canada.
³ Asociación Para Evitar La Ceguera en México, IAP, Vicente García Torres 46, Colonia Barrio San Lucas, Coyoacán, Ciudad de México, C.P 04030, Mexico.
⁴ Department of Ophthalmology, University of Puerto Rico, Medical Sciences Campus, PO BOX 365067, San Juan, 00936-5067, Puerto Rico.
⁵ Bascom Palmer Eye Institute, Department of Otolaryngology, University of Miami Miller School of Medicine, 900 NW 17th St, Miami, FL, 33136, USA.
⁶ Department of Anesthesiology, University of Miami Miller School of Medicine, 1611 NW 12th Ave (C-301), Miami, FL, 33136, USA.

Abstract

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.

Keywords: Neurofibromatosis type 1; Peripheral nonperfusion; Plexiform neurofibroma; Retinal detachment.

Publication types

Case Reports