Dr.Jerin.K.John,Dr.Bhanu Vikraman Pillai(pedgastro),Dr.Anupa Achama Thomas(ped gastro), Dr.Neeraj Panchanadikar(ped gastro),Dr.C.Jayakumar (pediatrics)
A previously asymptomatic 6-month-old male child, exclusively breastfed and developmentally normal, and the second child of a non-consanguineous marriage (NCM), presented with progressive abdominal distension for three weeks. There was no significant family history or other health issues. On examination, his abdomen was grossly distended, with an abdominal circumference measuring 52 cm.
Vitals and PICCLE were normal
Differntial Diagnosis
Right-sided heart failure
Granulomatous liver disease
Alpha-1 antitrypsin deficiency
Fitz-Hugh Curtis syndrome
Niemann-Pick disease type C
Infectious hepatitis
Neonatal hemochromatosis
Hepato blastoma
Initial laboratory investigations showed normal complete blood counts, negative C-reactive protein (CRP), normal urea levels, normal liver function tests, and no evidence of coagulopathy. D-dimer levels were within normal limits.
Ultrasound (USG) of the abdomen with Doppler revealed marked ascites and hepatomegaly with altered echo texture. There was inadequate visualization of the right hepatic vein, hepatic ostia, and inferior vena cava (IVC), alongside dilated intrahepatic venous collaterals. These findings prompted further evaluation with a contrast-enhanced CT scan of the abdomen. The CT scan revealed poorly visualized hepatic veins with a thin-caliber left hepatic vein, non-visualizedhepatic vein ostium, and intrahepatic IVC ostium, as well as a small-caliber short segment of the suprarenal IVC. Prominent azygous and hemiazygous systems were observed decompressing the IVC obstruction. The liver exhibited a mottled appearance with surface nodularity and caudate hypertrophy.
Investigations for a prothrombotic state were conducted, and tumor markers were negative. An echocardiogram ruled out constrictive pericarditis, and primary immunodeficiency was ruled out. The child was diagnosed with Budd-Chiarisyndrome, a rare condition characterized hepatic venous outflow obstruction.
Management included initiating diuretics and low-molecular-weight heparin (LMWH). The dose of diuretics was titrated based on monitoring abdominal girth, and repeat USG showed reduced ascites. The child’s condition improved, and he was discharged with stable
Disscusion
Budd-Chiari syndrome (BCS) is a rare liver disorder characterized the obstruction of hepatic venous outflow, which can be either primary (due to intrinsic venous lesions) or secondary (due to extrinsic compression). The condition can be acute, subacute, or chronic, often leading to hepatomegaly, ascites, and liver failure. The diagnosis involves imaging techniques like Doppler ultrasonography, CT, and MRI. Management strategies include anticoagulation, thrombolysis, angioplasty, stenting, and liver transplantation. Prognosis depends on the extent of liver damage and response to treatment
Carry home message
This case underscores the importance of considering vascular causes in pediatric patients presenting with significant abdominal distension and ascites and highlights the need for comprehensive evaluation and targeted management in such cases.