Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report.

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.

A prospective study comparing oral sodium phosphate solution to a bowel cleansing preparation with nutrition food package in children.

OBJECTIVE: The inability of children to comply with bowel preparation regimens can result in inadequate visualization of the colon. This study compares the safety, efficacy, and patient acceptance of a prepackaged diet kit plus a magnesium citrate/bisacodyl bowel cleansing regimen with a clear liquid diet and sodium phosphate solution regimen in children undergoing colonoscopy. METHODS: Children scheduled for a diagnostic colonoscopy, were randomly assigned to receive a prepackaged diet kit and a magnesium citrate/bisacodyl laxative (group 1), or clear liquids and sodium phosphate solution (group 2). The patients and their parents completed a questionnaire to evaluate acceptance of their assigned regimen before colonoscopy. The endoscopists, blinded to the type of bowel preparation, rated bowel cleansing. RESULTS: Sixty two children (28 males, 34 females) with mean age 12.5 years participated. Thirty six and 26 patients were in groups 1 and 2 respectively. Overall cleansing was rated significantly superior in group 1 compared to group 2 as was amount of retained feces (P = .013 for both). The overall frequency of reported side-effects was lower in group 1 than (83.3%, 30/36) than in group 2 (100.0%, 26/26) (P = 0.03). The preparations were otherwise equivalent in regards to compliance and patient tolerance. CONCLUSIONS: Although both regimens were comparable in adequacy of colon visualization, preparation tolerance, side effects and compliance profile in this pilot study, the prepackaged diet kit with magnesium citrate/bisacodyl laxative resulted in superior colon cleansing.