A 3-year-old girl developed acute liver disease after treatment with valproate for 6 months. She developed the typical features of Reye syndrome. Serum free carnitine was decreased as well as 3-keto-valproic acid, the main metabolite of beta-oxidation of valproate. The serum valproate concentration was at the upper limit of the therapeutic range. The possible importance of carnitine in the pathogenesis of valproate induced liver disease is discussed.

In repeat amniotic fluid cultures mosaicism due to trisomy 9 was noted. Autopsy of the aborted female fetus showed a sinus urogenitalis and gonadal dysgenesis with absence of germ cells only. Fetal lymphocytes and skin fibroblasts had a normal karyotype but trisomy 9 was found in cells grown from placenta. It is likely that trisomic cells were limited to fetal membranes.

A female infant presented with signs of general muscle hypotonia and increasing hypertrophy of the heart muscle. There was a constant lactic acidosis worsened after glucose intake. Serum lactate levels were increased up to 6.7 mmol/l. Serum alanine levels reached maximum concentrations of 2,800 mumol/l. The patient died after sudden cardiac arrest at 22 months of age. Histology of the heart showed the pattern of foamy myocardial transformation with accumulation of mitochondria and an increased glycogen content. Biochemical analysis of the skeletal muscle and the heart demonstrated signs of a disturbed respiratory chain. The content of cytochrome aa3 protein was decreased in skeletal muscle and heart mitochondria. It is suggested that respiratory chain defects may be the cause of foamy myocardial transformation of the heart.

Studies have demonstrated that budesonide is effective in the treatment of active Crohn's disease. Due to its extensive hepatic metabolism, budesonide has much lower adverse events compared to prednisolone. Consequently, the low systemic availability restricts its application to Crohn's disease of the terminal ileum and the colon. Esophageal ulceration is a rare complication of Crohn's disease. This article describes the case of a young lady who presented at the age of 16 with active Crohn's disease of the terminal ileum and the colon without dysphagia or pain in the chest. Her disease was successfully treated with prednisolone for almost two years. Because of weight gain, acne, and moon face she was switched to budesonide. A few days later she presented with intractable pain of the esophagus, dysphagia, and inability to eat. Endoscopy demonstrated aphthous ulcerations of the esophagus and the histology was compatible with Crohn's disease. After two weeks of treatment with prednisolone all symptoms resolved and at follow-up gastroscopy ulcers had disappeared.

The acute abdominal form of Wilsons's disease was observed in three female patients aged 17, 18 and 30 years. Clinically uncharacteristic general symptoms and jaundice were dominant. Chemical pathology showed high bilirubin values with predominance of direct bilirubin, signs of hepatic and renal insufficiency and haemolytic anaemia. There were no neurologic symptoms and the Kayser-Fleischer ring was absent. Coeruloplasmin in blood was normal, copper concentration in blood and urine was clearly increased. Diagnosis of Wilsons's disease could only be established at post mortem by quantitative copper estimation in liver tissue. The patients succumbed 1--4 weeks after onset of symptoms through hepatic failure.