An Unusual Clinical Presentation of Budd–Chiari Syndrome in an Adolescent Boy

IF 0.3 Q4 PEDIATRICS Journal of Child Science Pub Date : 2022-01-01 DOI:10.1055/s-0042-1757153
Shreyash Agrawal, Garima Pathania, R. Mittal, S. Mehndiratta, Ashutosh Kumar Singh
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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.
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青春期男孩Budd-Chiari综合征的异常临床表现
我们报告了一例不寻常的大面积脾肿大伴全血细胞减少而无腹水的病例,该病例被转诊给我们,怀疑是一名青春期男孩的骨髓增生性疾病。所做的检查对血液系统疾病没有任何帮助。在进一步的检查中,肝活检显示正弦充血,多普勒研究提示肝静脉不可见。右叶肥大,存在静脉-静脉侧支。Janus激酶2(JAK2)V617F突变为阴性,证实不存在未鉴定的骨髓增生性疾病。这是巴德-加里综合征(BCS)在儿童中的非典型表现。腹水的缺乏可能是由于青少年年龄组血管生成导致的更有效的侧支形成。潜在的血栓形成倾向被检测为亚甲基四氢叶酸还原酶677C突变 > 血清同型半胱氨酸水平升高。必须意识到儿童的不同临床表现,以便早期发现并进行适当的干预,以防止儿童BCS的灾难性结果。
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