Abstract
We report an unusual case of massive splenomegaly with pancytopenia without ascites,
which was referred to us with suspicion of a myeloproliferative disorder in an adolescent
boy. The work-up done was noncontributory to a hematological disorder. On further
work-up, liver biopsy depicted sinusoidal congestion, with Doppler study suggestive
of nonvisualization of hepatic veins. There was hypertrophy of the right lobe and
the presence of venovenous collaterals. Janus kinase 2 (JAK2) V617F mutation was negative,
which confirmed the absence of unidentified myeloproliferative disorder. This was
an atypical presentation of Budd–Chiari syndrome (BCS) in children. The absence of
ascites could be due to more efficient collateral formation in adolescent age groups
due to angiogenesis. Underlying thrombophilia was detected as methylenetetrahydrofolate
reductase mutation 677C > T with raised serum homocysteine levels. It is imperative
to be aware of the diverse clinical manifestations in children for early detection
and appropriate intervention to prevent catastrophic results in pediatric BCS.
Keywords
Budd–Chiari syndrome - hypersplenism - myeloproliferative disorder - children - thrombophilia
