Abbas Imane, Behnan Jinan, Dubey Abhishek, Liriano Genesis, Tepper Oren, Kobets Andrew J
The Leo M. Davidoff Department of Neurological Surgery, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA.
Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Diseases. 2024 Dec 12;12(12):325. doi: 10.3390/diseases12120325.
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.
1型神经纤维瘤病（NF1）中的颅骨缺损罕见，且缺乏标准化的管理指南。本研究旨在阐明患有广泛颅骨侵蚀的NF1患者的颅骨缺损情况。
本病例报告重点关注临床和放射学表现以及六年随访期间的手术干预措施，并将结果与文献中的结果进行比较。
一名患有NF1疾病的五岁女性被诊断出枕部有自发性颅骨缺损，其下方有一个蛛网膜囊肿。多年来病变逐渐扩大，九岁时她接受了首次手术。我们的手术团队在囊肿减压后，使用从顶骨获取的分层骨移植进行颅骨成形术。两年后，由于最初的骨移植完全吸收且大缺损未成功闭合，她接受了钛网板翻修手术。
颅骨缺损是NF1中一个相对不为人知的方面，且不存在标准治疗方法。其管理需要个性化方法，要考虑病变大小等因素以及患者一生中可能需要多次干预的情况。由于其进展性以及可能出现额外病变，长期随访对于有效监测和干预计划至关重要。
