Bauer Christoph, Furthner Désirée, Grohmann Eva, Tulzer Gerald
Department of Paediatric Cardiology, Kepler University Hospital GmbH, Krankenhausstrasse 26-30, 4020 Linz, Austria.
Faculty of Medicine, Johannes Kepler University Linz, Altenbergerstrasse 68, 4040 Linz, Austria.
Eur Heart J Case Rep. 2020 Dec 13;5(1):ytaa481. doi: 10.1093/ehjcr/ytaa481. eCollection 2021 Jan.
Vitamin K deficiency bleeding is a life-threatening complication in early infancy. Exclusive breastfeeding and neonatal cholestasis syndromes, most notable α-1-antitrypsin deficiency, have been reported to be risk factors. Intracranial haemorrhage is most common. No association to haemopericardium has been reported before.
We report on an 11 weeks old at term-born infant, who presented with severe anaemia and signs of cardiogenic shock. Immediately echocardiography was done and depicted cardiac tamponade. Pericardiocentesis was performed and a significant amount of haemorrhagic fluid was removed. Further workup revealed deranged coagulation parameters, cholestatic liver disease, and reduced α-1-antitrypsin levels. Despite normal brain sonography, a small cerebral haemorrhage was detected on magnetic resonance imaging. A genetic test finally proofed homozygotic mutation of the SERPINA1-gene and confirmed the diagnosis of α-1-antitrypsin deficiency as the underlaying cause. After initial replacement of coagulation factors, erythrocytes and vitamin K, the infant recovered. Eighteen weeks after discharge, the infant is still on vitamin K supplementation. She did not have any further bleedings and no neurologic or developmental impairment.
Alpha-1-antitrypsin deficiency can lead to vitamin K deficiency in young infants even with adequate prophylaxis. Spontaneous haemorrhagic pericardial effusion was a new manifestation of vitamin K deficiency bleeding in our patient and should be considered and ruled out in young infants who present with acute anaemia and poor clinical condition.
维生素K缺乏性出血是婴儿早期一种危及生命的并发症。据报道，纯母乳喂养和新生儿胆汁淤积综合征（最显著的是α-1抗胰蛋白酶缺乏症）是危险因素。颅内出血最为常见。此前未报道过与心包积血有关联。
我们报告一名足月出生的11周龄婴儿，其出现严重贫血和心源性休克体征。立即进行了超声心动图检查，显示有心包填塞。进行了心包穿刺术，抽出了大量血性液体。进一步检查发现凝血参数紊乱、胆汁淤积性肝病以及α-1抗胰蛋白酶水平降低。尽管脑部超声检查正常，但磁共振成像检测到少量脑内出血。基因检测最终证实SERPINA1基因纯合突变，确诊α-1抗胰蛋白酶缺乏症为潜在病因。在最初补充凝血因子、红细胞和维生素K后，婴儿康复。出院18周后，婴儿仍在补充维生素K。她没有再出现任何出血情况，也没有神经或发育障碍。
即使进行了充分的预防，α-1抗胰蛋白酶缺乏症仍可导致幼儿维生素K缺乏。自发性出血性心包积液是我们患者维生素K缺乏性出血的一种新表现，对于出现急性贫血和临床状况不佳的幼儿应予以考虑并排除。
