A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE

Abstract

A newborn with giant faciocervical mass and presented with asphyxia during birth was admitted to the hospital. After stabilizing her vital sign, we provided the patient with image examinations and whole-exome sequencing, which revealed a heterozygous variation of neurofibromatosis type 1 (NF1). The final diagnosis of the patient was NF1 complicated with neonatal hypoxic-ischemic encephalopathy (NHIE). During hospitalization, the patient received comprehensive and systematic care. There was no reports of similar cases in the literature. So, this report aimed to elucidate the special clinical manifestations, diagnosis, treatment and prognosis of NF1 complicated with NHIE by analyzing the clinical data of the patient and her family and reviewing relevant literature.

Keywords:

• neurofibromatosis type 1
• neonatal hypoxic-ischemic encephalopathy
• NF1 gene variation
• whole-exome sequencing

Ethics Approval and Informed Consent

The patient’s parents have signed the informed consent and agreed to publish it. They gave their consent for the publication of identifiable details, which can include photographs and/or case history and/or details within the text to be published in the article. They confirmed that they had seen and been given the opportunity to read the article.

Consent for Publication

Approval for the publication of the patient’s case details was obtained from Shandong Provincial Hospital.

Acknowledgments

We would like to acknowledge the patient and her parents who participated in the test and we are grateful for their kind contributions.

Disclosure

The authors report no conflicts of interest in this work.