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 Ignacio Rodriguez, Audina M. Berrocal

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article number101170
JournalAmerican Journal of Ophthalmology Case Reports
Volume23
DOIs
StatePublished - Sep 2021

Keywords

  • Neurofibromatosis type 1
  • Peripheral nonperfusion
  • Plexiform neurofibroma
  • Retinal detachment

ASJC Scopus subject areas

  • Ophthalmology

Fingerprint

Dive into the research topics of 'Neurofibromatosis type 1 presenting with retinal detachment and laryngeal plexiform neurofibroma in a toddler'. Together they form a unique fingerprint.

Cite this