Surgical Treatment of Children with Neurofibromatosis Type 1: a Case Series

BACKGROUND: Among hereditary diseases predisposing individuals to tumor development, neurofibromatosis type 1 ranks among the most prevalent. Due to the heterogeneity of clinical symptoms typical for this condition, patients often consult various specialists, which objectively leads to underestimation of symptoms and delayed diagnosis.

AIM: This study aimed to perform a comparative analysis of diagnostic approaches and surgical treatment in patients with this disease given the rarity of the disease and the lack of unified management protocols for neurofibromatosis type 1 in Russia to date.

METHODS: A retrospective analysis was conducted on clinical data from 20 pediatric patients who underwent surgical treatment for neurofibromatosis type 1 at the Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery.

RESULTS: Clinical records of 20 children (9 boys and 11 girls) were reviewed. The median age at the time of diagnosis was 7 years (1 to 17 years). In most patients (n = 15), neurofibromatosis type 1 manifestations were located in the head and neck region. The absence of a standardized diagnostic protocol for children with suspected neurofibromatosis was noted: magnetic resonance imaging of the affected area was performed in 19 patients, whereas brain magnetic resonance imaging and abdominal ultrasound were conducted in only one-third of the patients. In total, 36 surgeries were performed. The presence of a mass was the indication for surgery in 20 cases. In 3 patients with neurofibromas, initial histological diagnosis was incorrect, resulting in delayed diagnosis and inappropriate treatment strategies. Tumor recurrence was observed in 14 of the 26 cases following complete excision, which necessitated repeat surgical interventions (n = 9). A rare case of intestinal ganglioneurofibromatosis is also presented.

CONCLUSION: Variability in clinical manifestations, the rarity of the condition, and a general lack of awareness among pediatric surgeons often result in delayed diagnosis and inadequate treatment. Children were assessed and managed by various specialists without a systematic approach, and often underwent surgery without consideration of the pathogenesis of their condition. The creation of a clinical registry for such patients, as well as the establishment of multidisciplinary medical teams, with treatment decisions for children with neurofibromatosis type 1 made exclusively through case conferences, is of great importance.