Case Report: Clinical Features of Congenital Portosystemic Shunts in the Neonatal Period

Abstract

Objective: The aim of this single-center retrospective study was to analyze the clinical characteristics, treatment options, and course of neonatal-onset congenital portosystemic shunts (CPSS).Methods: We included all patients with CPSS who presented with clinical symptoms within the neonatal period in our institution between 2015 and 2020.Results: Sixteen patients were identified, including 13 patients with intrahepatic portosystemic shunts (IPSS) and three patients with extrahepatic portosystemic shunts (EPSS). The median age of diagnosis was 16 days (range prenatal 24 weeks−12 months). Hyperammonemia (60%), neonatal cholestasis (44%), elevated liver enzyme (40%), hypoglycemia (40%), thrombocytopenia (38%), and coagulation abnormalities (23%) appeared in neonatal CPSS. Twelve patients (75%) presented with congenital anomalies, of which congenital heart disease (CHD) (44%) was the most common. Thirteen patients with IPSS initially underwent conservative treatment, but two of them were recommended for the catheter interventional therapy and liver transplantation, respectively, due to progressive deterioration of liver function. Spontaneous closure occurred in nine patients with IPSS. The shunt was closed using transcatheter embolization in one patient with EPSS type II. Another patient with EPSS type II underwent surgical treatment of CHD firstly. The remaining patient with EPSS type Ib received medical therapy and refused liver transplantation.Conclusion: Hyperammonemia, neonatal cholestasis, elevated liver enzyme, hypoglycemia, and thrombocytopenia are the main complications of neonatal CPSS. Moreover, CPSS is associated with multiple congenital abnormalities, especially CHD. Intrahepatic portosystemic shunts may close spontaneously, and conservative treatment can be taken first. Extrahepatic portosystemic shunts should be closed to prevent complications.

Prenatal ultrasonographic features and follow-up outcomes of 19 cases of congenital intrahepatic portosystemic venous shunts diagnosed during the foetal period

“…The postnatal manifestations of IHPSS vary [ 24 ]; moreover, the most common biochemical abnormality in our case was an increase in GGT and bilirubin, which was more common in the multiple-shunt group of live births (80%, 4/5), probably resulting from liver ischaemia due to vascular deprivation. In addition, it should be noted that there were four cases of neonatal hypoglycaemia, all of which were in the single-shunt group.…”

“…Unfortunately, serum galactose was not detected in these four cases; therefore, it was unclear whether hypoglycaemia was caused by transient hypergalactosaemia. There have also been reports of neonatal hypoglycaemia; in a study of the clinical features of congenital portosystemic shunts in the neonatal period, 40% (4/10) of patients experienced severe neonatal hypoglycaemia, and all 4 patients were diagnosed with intrahepatic portosystemic shunts [ 24 ]. In our study, hyperammonaemia occurred in 6 neonates, and the blood ammonia level decreased during follow-up observation without causing hepatic encephalopathy.…”

Congenital intrahepatic portosystemic shunt with spontaneous resolution in a newborn with severe fetal growth restriction

“…Some small IPSSs resolve spontaneously by 1–2 years of age, whereas others, mostly large shunts, remain into adulthood and require surgical and endovascular treatments 2,8 . Table 1 shows the summary of newborns with IPSS from the previous retrospective cohort studies, including the data on prenatal diagnosis and spontaneous closure 4,9–12 . In mild cases, early detection may not be needed due to spontaneous closure, but in severe or persisting cases, early detection by ultrasonography could enable sufficient time for patients, families, and physicians to prepare for the treatment.…”

“…2,8 Table 1 shows the summary of newborns with IPSS from the previous retrospective cohort studies, including the data on prenatal diagnosis and spontaneous closure. 4,[9][10][11][12] In mild cases, early detection may not be needed due to spontaneous closure, but in severe or persisting cases, early detection by ultrasonography could enable sufficient time for patients, families, and physicians to prepare for the treatment. This case demonstrated that abdominal ultrasonography at birth was useful for the early detection of congenital IPSS in an infant with severe FGR.…”

“…T A B L E 1 Characteristics of perinatally diagnosed congenital IPSS cases from the previous retrospective cohort studies reporting spontaneous resolutions Achiron et al 4 Francois et al 9 Xu et al 10 Cytter-Kuint et al 11 Zhu et al…”