[罕见病例:与 VACTERL 有关的卡萨巴赫-梅里特综合征]。

IF 0.7 4区 医学 Q4 OBSTETRICS & GYNECOLOGY
Zeitschrift fur Geburtshilfe und Neonatologie Pub Date : 2024-06-01 Epub Date: 2024-03-01 DOI:10.1055/a-2262-8607
Melanie Le, Katharina Wenke, Jochen Herrmann, Dominique Singer, Mario Lange
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引用次数: 0

摘要

卡萨巴赫-梅里特综合征的特征是血管肿瘤(通常是帽状血管内皮瘤,很少是簇状血管瘤)和严重消耗性凝血病(可能危及生命的血小板减少症)的结合。严重的凝血功能障碍会导致出血倾向增加,在进行侵入性手术前必须考虑到这一点,而且往往需要反复更换血小板浓缩物。我们报告了一例患有卡萨巴赫-梅里特综合征(Kasabach-Merritt- Syndrome)和 VACTERL 联征的成熟男性新生儿。VACTERL 合并症描述了一组畸形。我们的患者伴有肛门闭锁、脐带系带和左肾发育不全。在该患者中,VACTERL 联征和 Kasabach-Merritt 综合征被认为是独立的病理现象。迄今为止,文献中还没有关于这种病的共同发生或相互关联的描述。由于严重的血小板减少症,凝血环境极具挑战性,这使得迄今为止的手术治疗变得更加复杂。最后,mTOR抑制剂西罗莫司成功地缩小了肿瘤,尤其是减少了血小板消耗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association].

The Kasabach-Merrit syndrome is characterized as the association of a vascular tumor, typically a caposiform hemangioendothelioma and rarely a tufted hemangioma, and a severe consumptive coagulopathy with potentially life-threatening thrombocytopenia. The severe coagulopathy with increased bleeding tendency must be considered before invasive procedures and often requires repeated platelet concentrate substitutions. We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimus was successful in terms of tumor reduction and especially reduction of platelet consumption.

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来源期刊
Zeitschrift fur Geburtshilfe und Neonatologie
Zeitschrift fur Geburtshilfe und Neonatologie OBSTETRICS & GYNECOLOGY-PEDIATRICS
CiteScore
1.10
自引率
0.00%
发文量
166
审稿时长
>12 weeks
期刊介绍: Gynäkologen, Geburtshelfer, Hebammen, Neonatologen, Pädiater
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