颅骨干骺端发育不良的手术治疗  

Experience of surgical treatment on craniometaphyseal dysplasia

作　　者：耿英楠[1] 袁捷[1] 俞哲元[1] 徐梁[1] 段惠川[1] 韦敏[1] Geng Yingnan;Yuan Jie;Yu Zheyuan;Xu Liang;Duan Huichuan;Wei Min(Department of Plastic and Reconstructive Surgery,Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200011,China)

机构地区：[1]上海交通大学医学院附属第九人民医院整复外科,200011

出　　处：《中华整形外科杂志》2020年第6期655-659,共5页Chinese Journal of Plastic Surgery

摘　　要：目的回顾颅骨干骺端发育不良(craniometaphyseal dysplasia,CMD)病例的治疗过程和临床效果,总结治疗经验。方法2004年6月至2018年6月上海交通大学医学院附属第九人民医院共收治3例CMD患者,第1例为1岁男性患儿,仅给予降钙素等药物治疗;第2例为5岁男性患儿,行鼻腔扩大、眶距缩窄术及內眦韧带移位术;第3例为7岁男性患儿,行颅骨重排+鼻畸形矫正术。观察患儿术后治疗效果。结果第1例患儿通过药物治疗后,实验室检查钙含量、碱性磷酸酶、甲状旁腺素均恢复正常,随访2个月,无并发症但畸形无改变。第2例患者术后鼻腔明显扩大,眶间距缩窄16~17 mm,但患儿颅面部畸形并未得到明显改善。随访半年,鼻腔功能处于良好状态。第3例患儿术后颅骨厚度由3 cm降至1~2 cm,头颅前后径缩短了6 cm,舟状头畸形明显改善。术后即刻复查DD二聚体为4.25 mg/L,FDP为20.6μg/ml,均较术前(DD二聚体0.98 mg/L,FDP 7.24μg/ml)明显升高。术后2周,因创面感染药物治疗无效,行颅骨重排术后清创术。颅骨重排术后10个月患儿再次因感染入院,CT示骨质吸收,于全麻下行颅骨外露清创缝合术及颅骨修补术。颅骨重排术后16个月随访,患儿病情稳定,未出现其他并发症。结论药物治疗对CMD具有一定的作用,而手术是目前唯一有效的治疗方法,但手术风险高,并发症多,需要反复多次手术。Objective To retrospect the treatment and clinical effect of craniometaphyseal dysplasia(CMD),and summarize the experience of cranial reconstruction and nasal deformity correction in the management of this case.Methods From June 2004 to June 2018,three male CMD patients of Shanghai Ninth People’s Hospital who received treatment.One patient was 1 year-old child who received drug therapy.A 5 year-old boy was treated with nasal cavity expansion and orbital hypertelorism for plastic and reconstructive surgery.The 7 year-old patient received cranial reconstruction and nasal deformity correction.Moreover,surgical treatments from 1967 to 2017 in the literatures on CMD were reviewed.Results Indicators(Ca,ATP,PTH)in the laboratory of the first child returned to normal after medication treatment,and there was no obvious abnormality in the following 2 months.Nasal cavity of the second case was enlarged and function of the nose was improved,and interorbital distance was reduced by 16-17 mm.However,cranial facial deformation was not ameliorated obviously.For the third patient,scaphocephaly deformity was significantly improved.Skull thickness decreased from 3cm to 1-2 cm,the anteroposterior diameter of the skull was shortened up to 6 cm.The immediate review of dd dimer was 4.25 mg/L,FDP was 20.6μg/ml,which was significantly higher than preoperative tests(dd dimer 0.98 mg/L,FDP 7.24μg/ml).Two weeks after surgery,the patient received skull debridement due to ineffective anti-infective treatment.Ten months later,the child was admitted to the hospital because of infection.CT scan showed bone resorption,and we treated him with skull debridement and cranioplasty.Following 16 months,the patient was in a stable condition without complications until now.Conclusions Drug therapy has a potential role in CMD treatment.However,surgery is the only effective management of it,although there will be a high risk and many complications,and the patients need repeated operations.

关 键 词：先天性头颅畸形 骨吸收 颅骨干骺端发育不良 

分 类 号：R726.8[医药卫生—儿科]