Diagnosis of Neonatal Neurofibromatosis Type 1: a case report and review of the literature

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 case of a neonate with a large mass observed on the left side of the maxillofacial region and cervical region at birth. Meantime, multiple cafe-au-lait macules (CALMs) were also seen on the trunk and both lower extremities. Conclusions: In this case, ultrasonography was used as a diagnostic method to discuss the ultrasonographic and clinical features of the tumor.