Downie Lilian, Sasi Arun, Malhotra Atul
Monash Newborn, Monash Medical Centre, Melbourne, Victoria, Australia.
J Paediatr Child Health. 2014 Mar;50(3):234-8. doi: 10.1111/jpc.12477. Epub 2013 Dec 23.
Congenital chylothorax is a rare but significant neonatal entity with major morbidity and mortality. The study aims to describe the related associations, management and outcomes of this condition in neonates.
This is a retrospective case series of all cases of congenital chylothorax admitted to a tertiary neonatal centre in the last 15 years.
Ten cases of congenital chylothorax were identified. Eight infants were diagnosed antenatally and three infants had antenatal pleural drainage. Most infants were ventilated at birth and required immediate pleurocentesis. Post-natal management included drainage of fluid, ventilation, albumin replacement, octreotide and dietary modification with medium-chain triglyceride-enriched formula. Five infants had chromosomal aberrations identified, while a further two had dysmorphic features not substantiated with routine genetic testing. Noonan's syndrome was the single most common underlying genetic diagnosis. Associated anomalies and malformations were present in 80% of the cohort. There were two deaths in the series, both in infants with multiple co-morbidities.
Congenital chylothorax is a rare condition with overall prevalence of less than a case per year in our experience. Majority of infants had associated chromosomal anomalies and significant co-morbidities needing prolonged intensive care.
先天性乳糜胸是一种罕见但严重的新生儿疾病，具有较高的发病率和死亡率。本研究旨在描述新生儿先天性乳糜胸的相关关联、治疗及预后情况。
这是一项对过去15年入住某三级新生儿中心的所有先天性乳糜胸病例的回顾性病例系列研究。
共确诊10例先天性乳糜胸病例。8例婴儿在产前被诊断出，3例婴儿接受了产前胸腔引流。大多数婴儿出生时需要机械通气，并需立即进行胸腔穿刺术。产后治疗包括胸腔积液引流、机械通气、白蛋白补充、奥曲肽治疗以及采用富含中链甘油三酯的配方奶进行饮食调整。5例婴儿被发现存在染色体异常，另有2例婴儿具有畸形特征，但常规基因检测未能证实。努南综合征是最常见的潜在遗传诊断。80%的队列中存在相关的异常和畸形。该系列中有2例死亡，均为患有多种合并症的婴儿。
根据我们的经验，先天性乳糜胸是一种罕见疾病，每年总体发病率不到1例。大多数婴儿伴有染色体异常和严重合并症，需要长期重症监护。
