Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature

作者：Qiuying Zheng, Bei Xia, Xiaoli Zhao, Ruijie Wang, Fusui Xie, Nihui Pei, Hongwei Tao, Tingting Ding, Lei Liu · 发表于：BMC Pediatrics · 年份：2023 · DOI：10.1186/s12887-023-04077-z · 被引用次数：2 · 研究领域：Neurofibromatosis and Schwannoma Cases、Soft tissue tumor case studies、Neuroblastoma Research and Treatments

BACKGROUND: Neurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin. CASE PRESENTATION: This 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. CONCLUSIONS: In this case, the clinical features of the rare NF1 neonate are discussed along with its ultrasound findings.