伴有D二聚体升高的ROHHAD综合征1例并文献复习  

Case report of ROHHAD syndrome with elevated D-dimer levels and literature review

作　　者：杨蒙洁 黄群佳 单小鸥 Yang Mengjie;Huang Qunjia;Shan Xiaoou(Department of Pediatric Genetic Metabolic Endorinology,the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University,Wenzhou 325000,China;Department of Pathology,the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University,Wenzhou 325000,China)

机构地区：[1]温州医科大学附属第二医院、育英儿童医院儿童内分泌遗传代谢科,温州325000 [2]温州医科大学附属第二医院、育英儿童医院病理科,温州325000

出　　处：《中华实用儿科临床杂志》2024年第7期544-546,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：浙江省温州市基础性科研项目(Y20210294)。

摘　　要：报告1例伴有D二聚体升高的ROHHAD综合征患儿, 并复习文献, 总结ROHHAD综合征患儿的临床特点。患儿, 男, 9岁9个月, 于2020年7月在温州医科大学附属第二医院、育英儿童医院就诊。患儿从3岁开始出现体重快速增长, 体温不稳定, 易腹泻, 伴身材矮小、性腺发育不良;实验室检查提示高钠血症、血泌乳素及二氧化碳分压升高;肿瘤病理提示左肾上腺节细胞神经瘤;多导睡眠监测提示中枢性低通气伴阻塞性呼吸暂停, 最终确诊为ROHHAD综合征, 这也是国内首例ROHHADNET报道。此外, 患儿在肾上腺肿瘤切除术前D二聚体升高, 术后降至正常, 提示ROHHAD综合征患者有血栓风险, D二聚体可能具有预测ROHHADNET肿瘤进展的价值。This article reports a case of ROHHAD syndrome with elevated D-dimer levels and reviews the literature to summarize the clinical characteristics of this disease.A 9 years and 9 months old boy was treated at the Second Affiliated Hospital and Yuying Children′s Hospital of Wenzhou Medical University in July 2020,he was evaluated for rapid-onset obesity but poor height growth since he was 3 years old.He also presented with unstable temperature,frequent diarrhea and hypogonadism.The laboratory findings revealed hypernatremia,hyperprolactinemia and elevated partial pressure of carbon dioxide.The pathological finding suggested the left adrenal ganglioneuroma.Polysomnography data showed central hypoventilation with obstructive sleep apnea.The boy was finally diagnosed with ROHHAD syndrome.It was the first report of the ROHHADNET case in China.The boy had a high level of D-dimer before surgery,but it fell to normal following the surgical excision of the adrenal tumor.ROHHAD syndrome patients may be at risk of thrombosis.Changes in D-dimer level may be used as a marker to help predict the tumor progression in ROHHADNET.

关 键 词：ROHHAD综合征 D二聚体 高凝状态 神经节细胞瘤 

分 类 号：R725.9[医药卫生—儿科]