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

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. During examination under anesthesia, ophthalmic exam findings demonstrated retinal detac...

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Bibliographic Details
Published in:American journal of ophthalmology case reports 2021-09, Vol.23, p.101170, Article 101170
Main Authors: Hua, Hong-Uyen, Martens, Rosanna, Read, Sarah Parker, Cernichiaro-Espinosa, Linda A., Fallas, Brenda, Oliver, Armando L., Younis, Ramzi, Rodriguez, Luis, Berrocal, Audina M.
Format: Article
Language:English
Subjects:
Case Report
Neurofibromatosis type 1
Peripheral nonperfusion
Plexiform neurofibroma
Retinal detachment
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Summary: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. 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. 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.
ISSN:2451-9936
2451-9936
DOI:10.1016/j.ajoc.2021.101170