Nusmeier A, de Jongste J C, Bos A P, Lam J, Hoekstra M O
Universitair Medisch Centrum St Radboud, afd. Intensive Care, Postbus 9101, 6500 HB Nijmegen.
Ned Tijdschr Geneeskd. 2003 Aug 2;147(31):1501-6.
A 2-day-old girl, born at term after an uneventful pregnancy and delivery, was admitted to the paediatric intensive care unit with dyspnoea and tachypnoea. Misleading interpretations of the radiological investigations suggested a congenital diaphragmatic hernia. The patient underwent laparotomy but a diaphragmatic hernia was not found. Meanwhile the patient developed unexplained pulmonary hypertension and a progressive forward failure of the heart. The differential diagnosis did not take the pulmonary hypertension into account. Finally further investigations led to the diagnosis of a very rare congenital pulmonary vascular anomaly: an absent left pulmonary artery and systemic to pulmonary collateral arteries. The condition was considered inoperable and the patient, whose condition meanwhile had deteriorated markedly, died. This case illustrates (a) that the differential diagnosis must be based on all of the abnormal clinical findings, which should preferably be grouped together under one final diagnosis, and (b) that one must not jump to conclusions--which in this case led to unnecessary diagnostic and therapeutic interventions--, but as long as a diagnosis cannot be established, the diagnostic investigations should not be considered completed.
一名2天的女婴，足月顺产，孕期及分娩过程均正常，因呼吸困难和气促入住儿科重症监护病房。影像学检查的错误解读提示先天性膈疝。患者接受了剖腹探查，但未发现膈疝。与此同时，患者出现了不明原因的肺动脉高压和进行性心力衰竭。鉴别诊断未考虑肺动脉高压。最终，进一步检查确诊为一种非常罕见的先天性肺血管异常：左肺动脉缺如并体肺侧支动脉。该病情被认为无法手术，患者病情随后显著恶化，最终死亡。本病例说明：（a）鉴别诊断必须基于所有异常临床表现，最好将这些表现归纳为一个最终诊断；（b）不能急于下结论——在本病例中这导致了不必要的诊断和治疗干预——只要无法确诊，就不应认为诊断检查已经完成。
