Congenital Extrahepatic Portosystemic Shunt Complicated by the Development of Hepatoblastoma: A Case Report and Review of Literature.

Congenital portosystemic shunts (CPSS) or congenital extrahepatic portosystemic shunts (CEPS) is a rare malformation. This congenital anomaly presents with a diverse array of clinical manifestations, ranging from asymptomatic to severe complications such as cardiac failure, pronounced pulmonary hypertension, and widespread pulmonary arteriovenous malformations. CPSS increases the risk of developing benign or malignant liver tumors, including nodular regenerative hyperplasia, focal nodular hyperplasia, hepatic adenoma, hepatocellular carcinoma, and hepatoblastoma. We report a case of a 15-month-old boy, identified with Abernethy's malformation type Ib, who presented with an abdominal mass during a follow-up. A comprehensive assessment established a diagnosis of hepatoblastoma. The patient was transferred to a specialized liver transplant center for further treatment and management. This is a review of literature highlighting the complexity of Abernethy malformation and its associated risk of liver tumors.

Six-year follow-up of a child with familial chylomicronemia syndrome: disease course and effectiveness of gemfibrozil treatment -- Case report and literature review.

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease affecting lipoprotein metabolism. FCS is estimated to occur in 1 in 1 - 2 million individuals [1], and can be diagnosed at any age, affecting all genders, races, and ethnicities equally [2]. The condition is characterized by hypertriglyceridemia, which may predispose patients to acute pancreatitis. Here, we presented the case of a now 6-year-old girl with FCS on Gemfibrozil and dietary restrictions. The patient initially presented at 40 days of age with bloody diarrhea. Serum samples showed lipemia, with markedly elevated triglyceride levels. She was diagnosed with FCS, which was confirmed by genetic testing, showing homozygous variant c.833C>T(p,Ser278Phe) for LPL gene. Despite starting a low-fat diet with medium chain triglycerides (MCT) based milk formulas, the patient developed acute pancreatitis two months later, with continued elevated triglyceride levels. She was started on Gemfibrozil and fat-soluble vitamins at two months of age, with marked improvements subsequently noted. Currently she is well, with normal growth parameters and no other episodes of acute pancreatitis. Her triglyceride levels have maintained within normal levels. Familial chylomicronemia syndrome is a rare, inherited lipid disorder, that often goes underdiagnosed and unmanaged. There is insufficient data regarding its treatment protocol. It mainly presents in childhood but can be seen in infancy, with different manifestations. The mainstay of treatment is dietary restriction, although some patients may require lipid lowering agents. It worth considering Fibrate derivative (Gemfibrozil) to be one of the lines of management early after diagnosis.