Maple syrup urine disease (MSUD) is an autosomal recessive disorder associated with impaired metabolism of branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Children with MSUD suffer from bouts of metabolic decompensation, which may lead to neurological damage. Liver transplantation from unrelated deceased donors has been considered curative. The natural history of the disease following transplantation using a haploidentical (obligate heterozygous) living donor is still unclear, although previously described as favorable. We describe acute metabolic crises in a 20-month-old child with MSUD type II. The first well-documented one occurred 5 months after a successful liver transplantation from his mother. The patient developed encephalopathy with progressive lethargy and seizures after an episode of gastroenteritis with dehydration. Plasma levels of leucine, isoleucine, and valine were markedly elevated and alloisoleucine was detected. He promptly responded to dialysis and BCAA-free dietetic management and subsequently could resume a normal diet. Since then he has had another symptomatic metabolic crisis with seizures. This case strongly suggests that some recipients of liver transplantation from a haploidentical parent possess limited capacity to oxidize BCAA at the time of catabolic stress and dehydration and remain at risk of severe metabolic crises. Thus, careful metabolic monitoring and prompt treatment post liver transplantation are still required to avoid neurological sequelae of MSUD, particularly if the donor is heterozygous for MSUD. Abbreviations BCAABranched-chain amino acids BCKDH Branched-chain keto acid dehydrogenase complex MSUD Maple syrup urine disease

No abstract

Hepatic artery resistance index has been measured by ultrasonography Doppler and has been found to predict rapid deterioration and death in children with biliary atresia. Clinical, biochemical, ultrasonographic, and outcome data were collected prospectively and retrieved on 32 patients with resistance index of > or = 1.0 (group A). These were compared with the same data for 32 age- and sex-matched patients with biliary atresia and a resistance index of < 1.0 (group B). Group A was found to have significantly worse liver function tests than group B. In group A, all patients died (n = 11) or underwent transplantation (n = 21; of whom 4 died) compared with only 2 patients who died in group B and 4 patients who underwent transplantation without fatality. Survival at 2 years was 52% in group A v 94% in group B. It is suggested that regular ultrasonography Doppler examination in patients with biliary atresia can detect a group with a resistance index of > 1.0 who have a very high risk of early mortality. Such patients require early evaluation and listing for transplantation. Those listed for liver transplantation on other grounds require ultrasonography examinations every 2 to 3 months with immediate upgrading of the priority of those patients found to have a resistance index of > or = 1.0.

M edical treatment of hepatopulmonary syndrome (HPS) 1 has proved disappointing. The treatment of choice is orthotopic liver transplantation (OLT), 2,3 but this is often complicated by intractable postoperative hypoxemia. Current evidence indicates that a successful outcome is possible in the presence of postoperative hypoxemia, 4,5 but morbidity 6 and mortality remains high. 3,7 We report the successful use of inhaled nitric oxide in a child with HPS who developed severe hypoxemia after OLT. Case ReportA female child presented with hepatosplenomegaly and diarrhea; liver biopsy specimen showed micronodular cirrhosis. Cyanosis was noted when she was aged 3 years. A technetium 99m-labeled macroaggregated albumin scan showed a 46% shunt measured over the brain. Pulmonary angiography showed diffuse shunting at the bases indicated by early venous filling. Her pulmonary artery pressures were 29/12 mmHg, and pulmonary wedge pressure was 16 mmHg. Lung biopsy specimen did not show evidence of parenchymal disease. At 4 years she had an arterial oxygenation (PaO 2 ) of 5.6 kPa and oxygen saturation (SaO 2 ) of 78% to 81%.OLT was carried out. Over the subsequent 18 hours, PaO 2 deteriorated despite a high inspired oxygen concentration (FIO 2 ) and increase in the mean airway pressure (MAP). The oxygenation index (FIO 2 ϫ 100 ϫ MAP/PaO 2 ) deteriorated from 15 to a maximum of 42. There was no evidence of consolidation on chest radiograph, and pulmonary artery pressures of 19/16 to 23/19 mmHg ruled out pulmonary hypertension. Her cardiac output index was 9.2-11.8 L/min/m 2 , and calculated systemic and pulmonary vascular resistance indices were 408-481 dyn-sec/cm 5 and 47-68 dyn-sec/cm 5 , respectively. A noradrenaline infusion failed to increase calculated vascular resistance or oxygenation.In view of the continued deterioration, permission was requested and granted to carry out an inhaled nitric oxide (NO) trial. Continuous inhaled NO at 13 ppm was administered through a ventilator circuit port close to the endotracheal tube. This resulted in an immediate improvement in oxygen saturations and a fall in the oxygenation index (OI; Fig. 1). There was no change in pulmonary vascular resistance (51 dyn-sec/cm 5 ), and cardiac output index was marginally lower at 7.4-7.9 L/min/m 2 . Changing the NO concentration did not lead to significant changes in oxygenation, but discontinuation resulted in a fall in oxygen saturation. Approximately 30 hours after NO inhalation was begun, there was a decrease in the oxygenation index; this was due to a reduction in the level of ventilatory support, which resulted in a reduction in MAP (Fig. 1) and, in retrospect, was inappropriate. The patient was ventilated for 9 days and extubated to face-mask continuous positive airways pressure with added NO at 1 ppm; this was discontinued 6 days later without any ill effects. The child subsequently made an unremarkable recovery. She was reviewed as an outpatient on day 42 after surgery and had an oxygen saturation of 95% in room air. DiscussionHypoxemia ...

No abstract

No abstract

No abstract