1型神经纤维瘤病在一名幼儿中表现为视网膜脱离和喉丛状神经纤维瘤。
Neurofibromatosis type 1 presenting with retinal detachment and laryngeal plexiform neurofibroma in a toddler.
作者信息
Hua Hong-Uyen, Martens Rosanna, Read Sarah Parker, Cernichiaro-Espinosa Linda A, Fallas Brenda, Oliver Armando L, Younis Ramzi, Rodriguez Luis, Berrocal Audina M
机构信息
Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, 900 NW 17th St Miami, FL, 33136, USA.
Department of Ophthalmology and Visual Sciences, University of British Columbia, 2550 Willow Street, Vancouver, BC, V5Z 3N9, Canada.
出版信息
Am J Ophthalmol Case Rep. 2021 Jul 22;23:101170. doi: 10.1016/j.ajoc.2021.101170. eCollection 2021 Sep.
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.
目的
报告一名22个月大的完全性视网膜脱离女童，在麻醉下多专科检查过程中发现其全身检查结果与1型神经纤维瘤病相符。
观察结果
在麻醉下检查时，眼科检查发现视网膜脱离伴囊肿形成，以及左眼视网膜周边无灌注。插管困难时发现的非眼科检查结果包括喉丛状神经纤维瘤和咖啡斑。
结论
与成人相比，小儿视网膜脱离并不常见。1型神经纤维瘤病的小儿患者可能以视力丧失为首发症状。应仔细筛查和监测全身体征和症状。
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