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Unlabelled: We present an unusual case of neonatal liver failure. Isolated ascites was diagnosed in a female fetus at week 34 gestational age upon routine ultrasound. In the 35th week of gestation a cesarean section was carried out after puncture of fetal ascites. After birth the patient showed symptoms and complications of acute liver failure with portal hypertension. High serum ferritin concentrations, MRI findings compatible with tissue iron overload and no evidence for infectious disease or inborn errors of metabolism suggested possible neonatal hemochromatosis (NH). HFE gene mutation analysis studies of the child and parents were negative. An anti-oxidative and iron chelating therapy was introduced, followed by clinical stabilisation of the newborn and normalisation of liver function. The liver biopsy at 4 month of age showed mild fibrosis with a few iron-loaded hepatocytes and macrophages. At 2 years of age the child was virtually healthy., Conclusion: The clinical course of our patient indicates that the pathological changes in the liver being associated with presumptive NH may be reversible when NH is diagnosed early and antioxidative and chelating therapy is immediately initiated.

We report a case of Noonan syndrome associated with pulmonary stenosis and major lymphedema of the lower extremities. At the age of 15 yr spontaneous chylothorax with increasing dyspnea occurred> Chest-x-ray demonstrated increased interstitial markings restricted to the right lower lobe representing pulmonary lymphangiectasia. The chylothorax did not respond to repeated thoracocentesis and medium-chain-triglyceride diet. When a chest tube was inserted and total parenteral nutrition was supplied, the chylous effusion decreased within 32 days. The patient is still on diet and asymptomatic effusion remained during 12 months follow up. In conclusion, pulmonary lympgangiectasia should be considered in patients with Noonan syndrome and an abnormal interstitial pulmonary pattern similar to pulmonary congestion (without any hemodynamic abnormalities). In case of pleural effusion, chylothorax should be considered.