Congenital portosystemic shunts in children: A case series from single center

INTRODUCTION

Congenital portosystemic venous shunts (CPSS) are rare vascular anomalies that occur due to abnormal development of fetal vasculature affecting almost 30,000–50,000 live births.^[1] Management of CPSS remains controversial. Sometimes, there is spontaneous closure of an intrahepatic shunt by 1–2 years of age and rest of the shunts need to be closed to prevent complications^[2] This article aims to provide insights into the clinical profile of CPSS through the discussion of four cases with varying presentations.

CASE SERIES

Case 1

An 8-year-old girl was referred in November 2020 in view of ultrasound (USG) abdomen showing an incidental abnormal vascular malformation in liver. USG was done in view of dengue fever. The child on presentation to us was asymptomatic. Her clinical features and investigations are depicted in Table 1. Computed tomography (CT) abdomen revealed an anastomosis between portal vein and intrahepatic part of inferior vena cava (IVC), hypoplastic portal vein, and multiple nodules in bilateral liver lobes [Figure 1a]. The anastomosis was closed by femoral catheterization and a vascular plug [Figure 1b]. Five months post shunt closure child was doing well and asymptomatic.

Table 1: Clinical features and investigations of all the patients.

	Case 1	Case 2	Case 3	Case 4
Age	8 years	2 months	22 days	1 day
Gender	Female	Female	Female	Male
Jaundice	No	Yes	Yes	Yes
Hematemesis	No	No	No	No
Hepatomegaly	No	No	Yes	No
Splenomegaly	No	No	No	No
Hepatobiliary iminodiacetic acid scan	Not done	Non-extraction of radiotracer in intestine at 24 h	Extraction of tracer in intestine in 3–4 h	Not done
Hemoglobin (g%)	12.4	11.8	10.6	15.5
White cell count (cells/cumm)	5660	7540	9750	11430
Platelets (cells/cumm)	167000	145000	320000	435000
Total bilirubin (mg/dL)	0.9	12.8	10	9.3
Direct bilirubin (mg/dL)	0.3	9.4	7.9	1
Ammonia (g/dL)	62	108	68	--
SGOT (IU/L)	61	331	171	--
SGPT (IU/L)	57	213	103	--
GGTP	--	108	232	--
Total proteins (g/dL)	5.9	4.9	4.3	--
Albumin (g/dL)	3.8	3.8	2.9	--
Echocardiography	Normal	Moderate supravalvar pulmonary stenosis with bilateral branch pulmonary artery stenosis with small ostium secundum atrial septal defect and mild right ventricular hypertrophy	Patent foramen ovale	moderate size patent ductus arteriosus with bidirectional shunt with moderate Tricuspid regurgitation

SGOT: Serum glutamic-oxaloacetic transaminase test, SGPT: Serum glutamic pyruvic transaminase, GGTP:Gamma-glutamyl transpeptidase

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Figure 1:

(a) Pre-shunt closure multidetector computed tomography (MDCT) showing shunt between portal vein and inferior vena cava. (b) MDCT abdomen in sagittal section of liver showing vascular plug.

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Case 2

A 2-month-old girl presented with high GGTP neonatal cholestasis and deranged liver function test (LFT) in April 2021. Infection panel including TORCH, hepatitis B, hepatitis C, and human immunodeficiency virus (HIV) enzyme-linked immunosorbent assay (ELISA) was negative. Urine routine microscopy, thyroid function test, and ophthalmic examination were normal. Next genome sequencing for neonatal cholestasis panel was normal. Her clinical features and investigations are depicted in Table 1. Liver biopsy histology showed cholestatic liver disease with paucity of bile ducts with few giant cell transformation and mild portal inflammation with F1 to F2 fibrosis on Metavir index. MRCP showed mild communicating intrahepatic biliary duct dilation in bilateral lobes of liver. Common bile duct (CBD) was well visualized and gallbladder was well distended. Cystic duct was seen draining into the proximal CBD but common hepatic duct was not well visualized. USG abdomen showed intrahepatic portosystemic shunt. CT abdomen revealed a linear tubular vascular shunt between the distal part of middle hepatic vein and one of the segmental branches of left portal vein in segment IV b. Another smaller tubular shunt was seen between the distal part of one of the branches of left hepatic vein and a segmental branch of left portal vein in segment IVa suggestive of two intrahepatic portosystemic shunts [Figure 2]. Patient was started on fat soluble vitamins and ursodeoxycholic acid (UDCA). Neonatal cholestasis improved in a month (Bilirubin decreased from 12.8 mg/dL to 7 mg/dL). She was subsequently lost to follow-up.

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Figure 2:

Multidetector computed tomography of abdomen and pelvis in coronal section showing two intrahepatic portosystemic shunts.

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Case 4

A 1 day old, late preterm male baby presented with respiratory distress and pulmonary hypertension with antenatal scan suggesting ductus venous agenesis with hepatic vascular malformation. The patient developed cholestasis with deranged LFT. His clinical features and investigations are depicted in Table 1. Antenatal 2D echocardiogram (ECHO) showed cardiomegaly with dilated right atrium and left ventricle. USG abdomen was suggestive of necrotizing enterocolitis with vascular malformation in liver with resultant hyper dynamic hepatoportal circulation suggestive of arteriovenous (AV) malformation. CT abdomen revealed AV malformation and intrahepatic connection between main portal vein and intrahepatic IVC [Figure 3a-c]. The patient was treated with IV antibiotics, fat-soluble vitamins, UDCA, and intravenous antibiotics. He went discharge against medical advice after 7 days of hospitalization and was subsequently lost to follow-up.

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Figure 3:

(a) Multidetector computed tomography (MDCT) abdomen in axial section of liver showing hemangioma.(b) MDCT abdomen in axial section of liver showing early draining veins in arterial phase. (c) MDCT abdomen in coronal section of liver showing vascular shunt between main portal vein and inferior vena cava.

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DISCUSSION

CPSS vascular channels are low pressure systems that cause the intestinal blood flow to reach systemic circulation bypassing the liver.^[3,4] CPSS is classified as intrahepatic (Park, types I-IV) or extrahepatic (Abernethy, type I and type II). These can present with similar clinical features but differing pathophysiology and treatment.^[3,5] Long-term shunting can lead to hepatic encephalopathy, pulmonary hypertension, and hepatopulmonary syndrome. Other features can be signs of intrauterine growth restriction, neonatal cholestasis, neurocognitive dysfunction, learning disabilities, seizures, extreme fatigability, and failure to thrive.^[2] Our study reported four patients with congenital portosystemic shunts (CPSS) and revealed several significant findings. The age at presentation varied, ranging from a new born to a toddler, emphasizing the need for clinical suspicion across different age groups. With the development of prenatal screening, we hope to diagnose such cases at the earliest.^[6] Female patients had a higher prevalence of CPSS, warranting consideration for the condition in this population.

Asymptomatic CPSS cases were not uncommon, underscoring the importance of comprehensive evaluations in patients with unexplained liver enzyme abnormalities or symptoms as also emphasized by Musa et al.^[7]

Modality of diagnosis includes initial Doppler USG and arterial ammonia levels followed by abdominal CT or MRI to delineate shunt anatomy and characterize potential focal liver lesions.^[2] Color Doppler USG was valuable for initial assessment and also helped calculate the shunt ratio by estimating flow volume in addition to showing flow signals between the involved vessels and assessing flow direction.^[8,9]

The multidetector computed tomography scans confirmed the diagnosis by providing detailed anatomical information.

The primary objective in managing CPSS was to impede disease progression and mitigate the risk of complications. Spontaneous closure with symptomatic management was observed in younger children while interventional radiology procedures were considered in older children.^[1]

Long-term follow-up was crucial for monitoring progression and detecting complications. Future studies may focus on optimizing follow-up duration and frequency to ensure early intervention if needed.

CONCLUSION

CPSS has heterogenous presentation with respect to age and clinical features and maybe associated with multiple anomalies like congenital heart disease, facial dysmorphism. CPSS liver lesions should be very carefully evaluated due to risk of premalignant adenomas and HCC. Sometimes there is spontaneous closure of an intrahepatic shunt by 1 to 2 years of age and rest of the shunts should be closed in order to prevent complications.