Challenges in the Management of a Calvarial Defect in an NF1-Patient

Calvarial defects in NF1 are rare and lack standardized management guidelines. This study seeks to shed light on calvarial defects in NF1 patients with extensive skull erosion.

This case report focuses on clinical and radiological presentations and surgical interventions during six years of follow-up, comparing the results with those in the literature.

A five-year-old female with NF1 disease was diagnosed with a spontaneous calvarial defect in the occipital region and an arachnoid cyst underneath. The lesion enlarged progressively over the years and at the age of nine, she underwent her first surgery. Our surgery team performed a cranioplasty using a split-thickness bone graft harvested from the parietal bone after cyst decompression. Two years later, she underwent revision surgery with a titanium mesh plate due to total resorption of the initial bone graft and unsuccessful closure of the large defect.

Calvaria defects are a relatively unknown aspect of NF1, and no standard treatment exists. Their management requires a personalized approach, considering factors like lesion size, and the potential for multiple interventions throughout the patient's lifetime. Due to their progressive nature and the possibility of additional lesions, long-term follow-up is crucial for effective monitoring and intervention planning.