The following case describes a previously healthy 15-year-old male who was found to have noncirrhotic portal hypertension with accompanying portopulmonary hypertension (POPH) who successfully underwent a liver transplant.  

The patient presented to emergency care after experiencing a syncopal episode with passage of melenic stools. Laboratory studies showed normal liver function and thrombocytopenia with a mild elevation in transaminases. Cross-sectional imaging and endoscopy revealed prominent non-bleeding gastric varices, as well as splenomegaly without significant ascites. Cardiac catheterization showed mean pulmonary arterial pressure (mPAP) of 38 mmHg, diagnostic for moderate POPH. 

Liver biopsy showed patchy architectural abnormalities, including multiple thickened muscular walled arterioles lacking a definite portal vein, dilated sinusoids, and focal proliferation of portal capillaries without increased fibrosis consistent with porto-sinusoidal vascular disease (PSVD), a relatively new disease entity first described in 2019. The diagnosis of PSVD involves liver biopsy and 3 types of histological lesions that are specific for PSVD; one is obliterative portal vein apathy, which was present in our patient.  

The patient was started on dual therapy with macitentan and tadalafil for management of POPH with resultant improvement on repeat cardiac catheterization. He went on to have a catastrophic gastrointestinal bleed requiring prolonged use of a Sengstaken-Blakemore tube and urgent transjugular intrahepatic portosystemic shunt for variceal decompression. Ultimately, the patient underwent liver transplantation. Currently, he remains on dual therapy for POPH. To date, there are few case reports of pediatric patients with PSVD and POPH. The underlying etiology of his PSVD is yet to be determined.