Abstract
Liver failure in neonates is a rare but often fatal disease. Trisomy 21 is not usually associated with significant infantile liver disease. If present, hepatic dysfunction in an infant with Trisomy 21 is likely to be attributed to transient myeloproliferative disorder with hepatic infiltration by hematopoietic elements and may be associated with secondary hemosiderosis. A less commonly recognized cause of liver failure in neonates with Trisomy 21 is neonatal hemochromatosis (NH); this association has been reported in nine cases of Trisomy 21 in literature. NH is a rare, severe liver disease of intra-uterine onset that is characterized by neonatal liver failure and hepatic and extrahepatic iron accumulation that spares the reticuloendothelial system. NH is the most frequently recognized cause of liver failure in neonates and the commonest indication for neonatal liver transplantation. Although porto-pulmonary hypertension (PPH) has been reported as a complication of liver failure in adults and older children, this has not been reported in neonates with liver failure of any etiology. This is probably due to the rarity of liver failure in newborns, delayed diagnosis and high mortality. The importance of recognizing PPH is that it is reversible with liver transplantation but at the same time increases the risk of post-operative mortality. Therefore, early diagnosis of PPH is critical so that early intervention can improve the chances of successful liver transplantation. We report for the first time the association of liver failure with porto-pulmonary hypertension secondary to NH in an infant with Trisomy 21.
Highlights
Neonatal hemochromatosis (NH) is the most frequently recognized cause of liver failure in neonates and the commonest indication for neonatal liver transplantation
We report for the first time the association of porto-pulmonary hypertension with liver failure secondary to NH in an infant with Trisomy 21
Several features suggest that the pulmonary hypertension observed in this neonate was attributable to endstage liver disease (ESLD), with the presence of Trisomy 21 being a contributory factor - the fact that the hypoxemia responded to supplemental oxygen in the first two days and worsened progressively with worsening liver failure despite treatment with assisted ventilation and inhaled nitric oxide
Summary
Neonatal hemochromatosis (NH) is the most frequently recognized cause of liver failure in neonates and the commonest indication for neonatal liver transplantation. On D2, the infant developed hypotension that was treated with escalating doses of dopamine, dobutamine, and epinephrine drips and hydrocortisone Her liver function progressively deteriorated, evident by worsening coagulation profile, increasing direct hyperbilirubinemia, hypoalbuminemia, hypoglycemia, and worsening edema. Quantitative plasma amino acids, and tests for organic acidemias, fatty oxidation defects and inborn errors of bile acid synthesis were normal. She was supported with blood, plasma, and albumin transfusions. Inhaled nitric oxide was initiated on D7 for persistent pulmonary hypertension on echocardiogram (bidirectional shunting across foramen ovale and ductus arteriousus, tricuspid valve insufficiency, dilated right ventricle with markedly elevated right ventricular systolic pressure of 74 mm Hg; Figure 1) with only marginal improvement in oxygenation. The radial alveolar count was less than three in many areas (expected 4-5)
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