新生儿期起病的罕见肝窦阻塞综合征1例北大核心CSCD

患儿,男,1个月14 d,因腹胀2周,加重3 d入院。患儿生后曾有脐炎病史,体格检查示腹胀明显、腹壁静脉显露、肝脾触诊不满意,移动性浊音阳性。肝脏转氨酶轻度增高,肝脏超声及CT均提示门静脉肝内段及肝脏左中右静脉肝内段不显影、管腔闭塞、周边纤维增生,临床诊断为脐炎引发的肝窦阻塞综合征。入院后12 d患儿出现大量血性腹水,继发低血容量性休克、呼吸衰竭,家属放弃治疗后临床死亡。该文对新生儿期起病的肝窦阻塞综合征的诊断思路及多学科诊疗进行重点描述,并总结肝大、腹水的鉴别思路。

A rare case of neonatal-onset hepatic sinusoidal obstruction syndrome

A male infant, aged 1 month and 14 days, was admitted to the hospital due to abdominal distension lasting for 2 weeks and worsening for 3 days. The infant had a history of omphalitis. Physical examination revealed severe abdominal distension, prominent abdominal wall veins, hepatosplenomegaly, and massive ascites. There was a slight elevation in liver transaminase levels. Liver ultrasound and CT scans demonstrated the absence of visualization of the intrahepatic segment of the portal vein and the left, middle, and right veins of the liver, indicating occlusion of these vessels, along with surrounding fibrous hyperplasia. The clinical diagnosis was hepatic sinusoidal obstruction syndrome resulting from omphalitis. A large amount of bloody ascites developed after 12 days of hospitalization, resulting in hypovolemic shock and respiratory failure. The infant passed away following the family''s decision to discontinue treatment. This article focuses on the diagnostic approach and multidisciplinary management of neonatal-onset hepatic sinusoidal obstruction syndrome, as well as provides insights into the differential diagnosis of hepatomegaly and ascites.