Author:
Zheng Qiuying,Xia Bei,Zhao Xiaoli,Wang Ruijie,Xie Fusui,Pei Nihui,Tao Hongwei,Ding Tingting,Liu Lei
Abstract
AbstractBackgroundNeurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin.Case presentationThis report described a neonatal case with a large mass observed on the left side of the maxillofacial and cervical region at birth. Meantime, multiple cafe-au-lait macules (CALMs) were seen on the trunk and both lower extremities.ConclusionsIn this case, the clinical features of the rare NF1 neonate are discussed along with its ultrasound findings.
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Reference17 articles.
1. Kallionpaa RA, Uusitalo E, Leppavirta J, Poyhonen M, Peltonen S, Peltonen J. Prevalence of neurofibromatosis type 1 in the finnish population. Genet Med. 2018;20(9):1082–6.
2. He Q, Jiang J, Yang J, Zeng J, Zhang H, Zhang Z. A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1. Am J Transl Res. 2022;14(7):5139–45.
3. Hernandez-Martin A, Duat-Rodriguez A. An update on neurofibromatosis type 1: not just Cafe-au-Lait spots and freckling. Part II. Other skin manifestations characteristic of NF1. NF1 and Cancer. Actas Dermosifiliogr. 2016;107(6):465–73.
4. Blakeley JO, Plotkin SR. Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol. 2016;18(5):624–38.
5. Sang NV, Ninh TP, Thanh DT, Thinh NC. A case report of mesenteric involvement in neurofibromatosis type 1. J Clin Imaging Sci. 2022;12:43.