Antico Alice, Vitulli Francesca, Rossi Andrea, Gaggero Gabriele, Piatelli Gianluca, Consales Alessandro
Neurosurgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Department of Neuroscience Rita Levi Montalcini, Neurosurgery Unit, University of Turin, Turin, Italy.
Childs Nerv Syst. 2024 Jan;40(1):27-39. doi: 10.1007/s00381-023-06232-4. Epub 2023 Nov 23.
Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple café-au-lait spots, lentiginous macules, Lisch nodules of the iris, and tumors of the nervous system. Bony manifestations such as scoliosis, dysplasia of the greater sphenoidal wing, tibial pseudoarthrosis, short stature, and macrocephaly have been reported in approximately 50% of patients. However, calvarial bone defects are rare. After screening 324 articles, 23 cases (12 adult and 11 pediatric patients) of occipital bone defects in NF1 patients were selected. All patients had a single/multiple bone defect over the lambdoid suture. Adjacent benign plexiform neurofibromas were observed in 14 patients (60.8%, 7 adults and 7 children); one adult patient was diagnosed with neurofibrosarcoma. Meningoencephalocele over the occipital defect was noted in 8 cases (34.78%, all adults). Cranioplasty was performed in only 17.39% of patients. Histologic examination was performed in 7 of the 15 patients with associated neurofibromas/neurofibrosarcomas. Biopsy of the bone margins surrounding the defect was performed in only one case. Pathologic examination of the herniated parieto-occipital or cerebellar tissue was not performed in any of the patients studied. We report the case of a 9-year-old girl with NF1 and a significant occipital bone defect and performed a systematic review of the relevant literature to highlight the challenges in treating this condition and to investigate the underlying mechanisms contributing to bone defects or dysplasia in NF1.
常染色体显性遗传的1型神经纤维瘤病（NF1）是一种由17号染色体q11.2上的基因突变引起的全身性疾病，其特征为多个咖啡斑、雀斑样痣、虹膜Lisch结节以及神经系统肿瘤。据报道，约50%的患者有脊柱侧凸、大蝶骨翼发育异常、胫骨假关节、身材矮小和巨头畸形等骨骼表现。然而，颅骨缺损较为罕见。在筛选了324篇文章后，选取了23例NF1患者的枕骨缺损病例（12例成人和11例儿童患者）。所有患者在人字缝处有单个/多个骨缺损。14例患者（60.8%，7例成人和7例儿童）观察到相邻的良性丛状神经纤维瘤；1例成年患者被诊断为神经纤维肉瘤。8例（34.78%，均为成人）患者在枕骨缺损处发现脑膜脑膨出。仅17.39%的患者进行了颅骨成形术。15例伴有神经纤维瘤/神经纤维肉瘤的患者中有7例进行了组织学检查。仅1例对缺损周围骨边缘进行了活检。在所研究的任何患者中均未对疝出的顶枕部或小脑组织进行病理检查。我们报告了1例9岁患有NF1且有明显枕骨缺损的女孩病例，并对相关文献进行了系统综述，以突出治疗这种疾病的挑战，并研究导致NF1患者骨缺损或发育异常的潜在机制。
