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BMJ Case Rep. 2019 Aug 30;12(8):e229260. doi: 10.1136/bcr-2019-229260.
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Indocyanine green lymphography and lymphaticovenous anastomosis for generalized lymphatic dysplasia with pleural effusion and ascites in neonates.吲哚菁绿淋巴造影术及淋巴管静脉吻合术治疗新生儿广泛性淋巴发育不良伴胸腔积液和腹水
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本文引用的文献

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The use of sirolimus in the treatment of giant cystic lymphangioma: Four case reports and update of medical therapy.西罗莫司在巨大囊性淋巴管瘤治疗中的应用：4例病例报告及药物治疗进展
Medicine (Baltimore). 2017 Dec;96(51):e8871. doi: 10.1097/MD.0000000000008871.
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Lymphatic Malformation in Newborns as the First Sign of Diffuse Lymphangiomatosis: Successful Treatment with Sirolimus.新生儿淋巴管畸形作为弥漫性淋巴管瘤病的首发症状：西罗莫司治疗成功
Neonatology. 2016;109(1):52-5. doi: 10.1159/000440939. Epub 2015 Oct 28.
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Treatment of a tongue lymphangioma with sirolimus after failure of surgical resection and propranolol.西罗莫司治疗手术切除和普萘洛尔治疗失败后的舌淋巴管瘤。
Pediatr Blood Cancer. 2014 May;61(5):931-2. doi: 10.1002/pbc.24866. Epub 2013 Nov 22.
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The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.原发性淋巴组织发育不良的分类和诊断算法：2010 年以来的更新，包括分子研究结果。
Clin Genet. 2013 Oct;84(4):303-14. doi: 10.1111/cge.12173. Epub 2013 Jun 27.
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The successful management of diffuse lymphangiomatosis using sirolimus: a case report.采用西罗莫司成功治疗弥漫性淋巴管瘤病：病例报告。
Laryngoscope. 2011 Sep;121(9):1851-4. doi: 10.1002/lary.21927. Epub 2011 Aug 16.
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Treatment guidelines of lymphatic malformations of the head and neck.头颈部淋巴管畸形治疗指南。
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Sclerotherapy of lymphangiomas of the head and neck.头颈部淋巴管瘤的硬化疗法。
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8
Cytogenetic evaluation of cystic hygroma associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: the roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis.与胎儿水肿、羊水过少或宫内胎儿死亡相关的囊状水瘤的细胞遗传学评估：羊膜穿刺术、尸检绒毛取样和囊状水瘤穿刺术的作用
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Primary lymphedema in children and adolescents: a follow-up study and review.儿童和青少年原发性淋巴水肿：一项随访研究及综述。
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新生儿全身性淋巴管发育异常的新型临床表型：漏诊病例

Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis.

作者信息

Abiramalatha Thangaraj, Johnson Thanka, Balakrishnan Umamaheswari, Amboiram Prakash

机构信息

Neonatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.

Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.

出版信息

BMJ Case Rep. 2019 Aug 30;12(8):e229260. doi: 10.1136/bcr-2019-229260.

DOI:10.1136/bcr-2019-229260
PMID:31471355
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6720905/
Abstract

We report a preterm neonate who had a large cervical cystic hygroma and right chylothorax. She was operated on day-21 and a near-complete resection of cystic hygroma was done. She developed refractory hypoxemia and shock post surgery and died after 24 hours. During autopsy, the chest cavity was found to be filled with chyle. Histopathological examination showed dilated lymphatics in the pleura, hepatic capsule, serosa of stomach and intestines, peri-pancreatic regions, peri-renal capsule and peri-adrenal tissues suggestive of generalised lymphatic dysplasia. Clinical exome sequencing did not reveal any pathogenic mutation in the genes involved in primary lymphatic dysplasia, noonan syndrome or rasopathies.

摘要

我们报告了一名患有巨大颈部囊状水瘤和右侧乳糜胸的早产儿。她在出生后第21天接受了手术，对囊状水瘤进行了近乎完全的切除。术后她出现了难治性低氧血症和休克，并在24小时后死亡。尸检时发现胸腔充满乳糜。组织病理学检查显示，胸膜、肝包膜、胃和肠的浆膜、胰腺周围区域、肾包膜和肾上腺周围组织中的淋巴管扩张，提示全身性淋巴管发育异常。临床外显子组测序未发现原发性淋巴管发育异常、努南综合征或RAS病相关基因的任何致病突变。