Clinical Characteristics of 389 Pediatric Patients With Neurofibromatosis Type 1 in South China

This study aimed to describe the clinical manifestations of pediatric patients (aged 0-18 years) with neurofibromatosis type 1 (NF1) diagnosed at our hospital over a 13-year period.

We conducted a retrospective analysis of pediatric patients with NF1 who presented at Shenzhen Children's hospital between January 2012 and August 2025. Data were retrieved from the hospital's medical record system, including: demographics, clinical manifestations (cutaneous, neurological, and ophthalmologic), plexiform neurofibromas (PNs), magnetic resonance imaging findings, and NF1 genetic testing status.

Three hundred and eighty-nine pediatric patients were reviewed. The median age at the time of diagnosis and the last follow-up was 6.1 years (interquartile range 3.2-9.3 years) and 6.7 years (interquartile range: 4.3-10.5), respectively. The most frequent observed characteristics were cafe-au lait macules (99.5%) and freckling (52.4%). PN was detected in 128 patients (32.9%); 57 received treatment. Whole-body magnetic resonance imaging identified PN in 59/117 (50.4%), including 28/86 asymptomatic (32.6%). Optic pathway glioma was observed in 3 (0.8%). Seizures occurred in 11 (2.8%). Lisch nodules were identified in 117 (30.1%). Orthopedic manifestations included scoliosis (48, 12.3%), other bone lesions (66, 17.0%), and pseudarthrosis (17, 4.4%).

The data in this report are largely in agreement with previously published series of children with NF1. Whole-body magnetic resonance imaging detected subclinical PN in 32.6% of asymptomatic patients, supporting its potential as a screening tool. Additionally, the prevalence of optic pathway glioma in our Asian cohort was lower than previously reported in non-Asian populations, suggesting potential regional differences in the phenotypic spectrum of NF1. These findings warrant validation in larger, independent cohorts.