Neonatal asplenia syndrome:clinical characteristics and prognosis of 8 cases / 中国新生儿科杂志

ABSTRACT

Objective To summarize the clinical characteristics of neonatal asplenia syndrome to improve the understanding of the disorder. Methods Newborns with neonatal asplenia syndrome admitted to the neonatal department of our Hospital from June 2008 to July 2015 were recruited and their gender, birth weight, gestational age, clinical manifestations, imaging features, laboratory examinations, treatments and prognosis were analyzed. Results A total of 8 newborns with asplenia syndrome were studied. All the patients presented with cyanosis at birth, 5 of them with heart murmur, 3 with apical impulse in the right ( dextrocardia) thorax and complex congenital heart diseases were found in all of them by echocardiogram examinations. 2 of them were diagnosed congenital heart diseases before birth by the fetal ultrasound. 2 cases combined with congenital imperforate anus and cutaneous fistulas. 1 case was found right renal agenesis and Howell-Jolly was seen in another case. All the 8 patientsˊ parents refused medical advices about continuing treatments and left hospital. Among them, 4 patients died in the neonatal period, 2 lost in follow-up and only 2 survived, one for 19 months and the other for 4 years. Conclusions Patients with asplenia syndrome presented absence of spleen, visceral inversion, severe cardiovascular malformations and other malformations. When the cyanosis, heart murmur and abnormal position of apical impulse were found in the newborns, asplenia syndrome should be considered and imaging examinations such as chest X-ray, ultrasound, visceral angiography and more should be ordered immediately, in order to make an early diagnosis of the disease.