Gene diagnosis of infantile neurofibromatosis type I: A case report

Abstract

BACKGROUND

Neurofibromatosis is an autosomal dominant genetic disorder with various manifestations. Systemic multiple neurofibromatosis is rare in infancy. The disease is difficult to identify in the early stage, and it is prone to misdiagnosis and missed diagnosis. In the presence of lower limb swelling with subcutaneous nodules of unknown cause, café-au-lait spots, and axillary freckles, this disease must be considered. This report presents the clinical manifestations, early detection, diagnosis and treatment, and prognosis of infantile neurofibromatosis type I (NF1).

CASE SUMMARY

The clinical manifestations, imaging examinations, and gene results of a 3-mo-old male infant with NF1 were analyzed retrospectively. He had “swelling of both legs” at the onset and developed café-au-lait spots, axillary freckles, and multiple neurofibromas later. He had a family history of similar conditions. Gene detection showed a heterozygous mutation of c.4537C>T in the NF1 gene, leading to a nonsense mutation of amino acids (p.R1513x), which originated from the mother of the infant. He was diagnosed with NF1.

CONCLUSION

Gene diagnosis plays an important role in the early diagnosis of NF1.

Keywords: Genetic diagnosis; Eurofibromatosis type I; Neurofibromatosis; Infant; Case report; Clinical manifestations

Core Tip: Neurofibromatosis type I (NF1) is a common autosomal dominant disorder with clinical symptoms in the skin, nervous system, skeleton, and eyes. NF1 development is related to gene deletion, and its incidence rate is about 1/3000. It is rare among children, especially infants. This report presents the case of a 3-mo-old male infant who was diagnosed with NF1. We believe that our study makes a significant contribution to the literature because this information will be of practical use to clinicians for management of similar conditions and encourage other researchers to validate our findings.