2020年10月接诊一例来自河北唐山市的12岁男性患儿（身高162cm，体重82kg）。主诉：右顶骨膨隆一年，进行性增大一月，来院就诊。查体示：神清语利，右侧顶枕部颅骨膨隆，质地硬、无压痛，余神经系统查体未见阳性体征。头颅三维CT显示“右侧顶骨、额骨、枕骨骨质异常增生”，以“颅骨纤维异常增生症”收入院。鉴于患儿颅骨骨质异常增生进展迅速，依据天坛小儿神外诊疗规范，拟行手术治疗。

图1.术前三维CT显示：右侧顶骨骨质异常增生，累及部分额骨、枕骨.

完善入院检查，于2020年11月9日在全麻下行右侧顶枕颅骨病变切除术。术中尽量扩大范围切除骨质，在病变骨质外近正常颅骨处铣切骨瓣，范围约10X10CM，病变骨质质地坚硬，平均厚度约3CM，内板与硬膜粘连严重，取下骨瓣后，硬膜表面广泛渗血，乙状窦和上矢状窦有多处小破口，出血凶猛；及时明胶海绵、速即纱压迫止血。骨板减压后，受压脑组织迅速膨隆复位，硬膜恢复张力，超声探查脑水肿明显，无出血及挫裂伤。硬膜外留置引流管，头皮对位缝合。术后患儿恢复好，一周内顺利出院，术后病理回报：骨纤维异常增殖症。拟二期来院修补缺损骨质。

图2.术中图片及术后三维CT显示颅骨病变切除满意.

治疗体会

骨纤维异常增殖症（Fibrous dysplasia）是一种先天性骨骼疾病，通常为单发病变(约占70%)，即单一骨头或骨的单一节段发生病变^10,11。病因为良性纤维骨发育障碍，骨间质分化不良，异常骨纤维与骨组织替代了正常的骨髓质¹。发生于颅面部的骨纤维异常增殖可能表现为颅面部无痛性肿块，若视神经管或外耳道受损可导致视力或听力丧失^2,3。颅骨纤维异常增殖症是一种少见的疾病，发生率低于0.05%⁴。儿童及青少年是好发群体（占比75%）⁵，好发位置包括筛骨、额眶骨，也可以见于蝶骨，颞骨，顶骨等^6,7。近年来，基于分子病理的研究，发现可能与GNAS1基因突变有关^8,9。

颅骨纤维异常增殖症的治疗具有特异性，要依据具体情况制定治疗方案¹²。对于无症状、病变进展缓慢的患儿，由于青春期后具有自限性，多不需手术，定期复查即可^6,13。若增生骨质侵入眶内压迫视神经、侵入内听道压迫面听神经，或异常增殖骨质生长迅速具有明显侵袭性，应积极手术，切除异常骨质，解除压迫^14,15。术式选择上，尽量扩大切除范围，施行根治性切除。研究表明，切除越彻底（病变骨质外围扩大切除1-2cm），复发率越低^16,17。术后静脉注射双膦酸盐可能有助于进一步降低复发率^17，18。

需要强调，位于颅盖部位的骨质切除后，应尽早修补^16，19。若大范围骨质缺损半年以上，可能会增加癫痫的发生率¹⁷。因此，本例患者拟三个月之内行颅骨修补术，使患儿尽早恢复正常生活。

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