以肝肾血管平滑肌脂肪瘤为首发症状的儿童淋巴管肌瘤病一例并文献复习

Lymphangiomyoleiomatosis presenting as angiomyolipomas of liver and kidney in children:a case report and literature review

目的分析以肝肾血管平滑肌脂肪瘤为首发症状的儿童淋巴管肌瘤病的临床表现,结合文献复习探讨儿童淋巴管肌瘤病的临床表现及肺部CT特征。方法2017年5月武汉儿童医院收治了1例反复气胸经病理诊断为肺淋巴管肌瘤病的10岁女性患儿。本研究通过检索PubMed数据库、万方医学网收集至今发表的关于儿童淋巴管肌瘤病的文献报道,对检索得到的病例资料进行详细分析。检索词为"lymphangiomyoma"、"lymphangiomyomatosis"、"lymphangioleiomyoma"、"lymphangioleiomyomatosis"、"淋巴管肌瘤病"。检索患儿的纳入标准为:年龄<18岁的个案报道或是病例系列报道。收集的资料包括:患儿的年龄、性别、首次出现的症状、累及的部位、肺部CT的表现、肺组织活检的结果、是否合并结节性硬化症。结果患儿住院40余天后顺利拔管出院,分别于出院后9个月及15个月时再次出现气胸,予以保守治疗后好转。19个月后再次出现左侧气胸保守治疗无好转后再次行胸腔闭式引流术,术后1周好转出院。2019年5月门诊复诊,患儿复查胸部X线提示出现明显肺大泡改变,活动后气促加重,日常活动明显受限。通过文献检索,自1966年正式命名为淋巴管肌瘤病以来,共12例儿童病例,7例累及肺组织,国内尚无儿童病例报道。结论儿童淋巴管肌瘤病的临床表现呈现年龄相关性的特点,早期的诊断及治疗可改善患儿肺功能并提高生活质量。

Objective To report one case of lymphangiomyoleiomatosis presenting as angiomyolipomas of liver and kidney in 10-year-old girl and to review the relevant literature to explore the clinical features and pulmonary computed tomography(CT)findings of pediatric lymphangiomyomatosis.Methods In May 2017,a hospitalized 10-year-old girl with recurrent pneumothorax was diagnosed as pulmonary lymphangiomyomatosis.The literature reports on pediatric lymphangiomyomatosis published so far were collected through the databases of PubMed and WanFang and the relevant clinical data reviewed.The searching keywords were"lymphangiomyoma","lymphangiomyomatosis","lymphangioleiomyoma","lymphangioleiomatosis"and"lymphangioleiomatosis".Inclusion criteria were case and serial reports of children aged under 18 years.The relevant data included age,gender,initial symptom,site of involvement,lung CT findings,lung biopsy results and presence/absence of tuberous sclerosis.Results After hospitalization for over 40 days,she was discharged successfully and pneumothorax recurred at 9 and 15 months respectively.She was cured by conservative measures.After 19 months,closed thoracic drainage was re-performed due to left pneumothorax.During long-term observations,chest radiographs showed bullae in both lungs and lung function deteriorated.Lymphangiomyomatosis is extremely rare in children.Since its official naming 1966,there have been a total of 12 pediatric cases,including 7 cases involving lungs.There is no reported pediatric case in China.Conclusions The clinical manifestations of lymphangiomyomatosis in children are age-related.Lung biopsy should be performed in time for early diagnosis and treatment to improve pulmonary function and to enhance quality-of-life.