Zeitschrift für Kinderheilkunde

It is difficult to prevent hyperammonaemia in patients with urea cycle disorders that present in the newborn period. This is true, even if treatment is started prospectively because of an affected relative. We propose several additional measures that could be used in conjunction with conventional therapy to improve the metabolic control. Catabolism could be reduced by delivering the babies by elective caesarean section, by starting intravenous glucose immediately after delivery and, possibly, by using β-blockers or octreotide and insulin. The effectiveness of sodium benzoate and sodium phenylbutyrate might be increased by giving phenobarbital to the mother before delivery and subsequently to the baby to induce the enzymes for conjugation. We would expect the proposed measures to reduce the risk of hyperammonaemia and to improve the outcome for these patients. They have not, however, previously been used in this context, so families would need to be counselled carefully and controlled studies should be undertaken.

Forty-one children with liver disease were studied by ultrasound scan at King Khalid University Hospital, Riyadh, Saudi Arabia. Diagnoses were confirmed either by liver biopsy or specific laboratory tests. Sonograms were studied for liver size, beam penetration, echogenecity, vascularity, and biliary tree abnormalities. Different liver diseases, such as chronic hepatitis, biliary cirrhosis, Wilson’s disease, familial idiopathic cirrhosis, type III glycogen storage disease, and secondary haemochromatosis revealed non-specific disease patterns. Four cases of biliary cirrhosis and two cases of glycogen storage disease showed periportal fibrosis. Two cases of familial idiopathic cirrhosis and a case of Wilson’s disease revealed thickening of the gall bladder wall, which has not been described in the literature.

The objective of this study was to evaluate the interoperator agreement of lung ultrasonography (LUS) on specific thoracic regions in children diagnosed with pneumonia and to compare the findings of the LUS with the chest X-ray. Participants admitted to the ward or PICU underwent LUS examinations performed by an expert and a novice operator. A total of 261 thoracic regions in 23 patients were evaluated. Median age and weight of participants were 30 months and 11.6 kg, respectively. A substantial overall agreement between operators was found for normal lung tissue (κ = 0.615, 95% confidence interval (95% CI) = 0.516–0.715) and for consolidations (κ = 0.635, 95% CI = 0.532–0.738). For B-lines, a moderate agreement was observed (κ = 0.573, 95% CI = 0.475–0.671). An almost perfect agreement was found for pleural effusion (κ = 0.868, 95% CI = 0.754–0.982). The diagnosis of consolidations by LUS showed a high sensitivity (93% for both operators) but a low specificity (14% for expert and 25% for novice operator). While intubated patients presented significantly more consolidations, nonintubated patients presented more normal ultrasound patterns. Conclusion: Even when performed by operators with very distinct degrees of experience, LUS had a good interoperator reliability for detecting sonographic patterns on specific thoracic regions.

Blood pH, bicarbonate, PCO2, serum calcium, alkaline phosphatase and red cell carbonic anhydrase were measured in 37 selected patients receiving anticonvulsants. Patients with metabolic acidosis showed a high incidence of hypocalcemia with increased alkaline phosphatase and a significant reduction of carbonic anhydrase-B activity. High iPTH levels were found in 13 patients, but this was not correlated with acid-base balance status. Anticonvulsant drugs seemed to inactive carbonic anhydrase-B activity. Metabolic acidosis might be one of the factors causing a disturbance of calcium metabolism in these patients.

A fourteen month-old boy with atypical phenylketonuria was treated with 5-hydroxytryptophan, L-dopa and peripheral aromatic amino acid decarboxylase inhibitor (Ro 4-4602:benserazide). Despite the good control of plasma phenylalanine on a low phenylalanine diet, he had shown no improvement in his development but progressive neurological symptoms, such asiirritability, convulsions and decrease voluntary movement. After beginning neurotransmitter therapy, his irritability disappeared promptly and the other symptoms diminished. He gradually reached his developmental milestones. At two and a half years of age, he had recovered sufficiently to be able to walk freely on treatment with 13 mg/kg/day of 5-hydroxytryptophan, 11 mg/kg/day of L-dopa and 2.7 mg/kg/day of benserazide in combination with slight restriction of phenylalanine intake (100 mg/kg/day). Levels of serotonin and 5-hydroxyindoleacetic acid were low in the patient's CSF. His urinary biopterin (Crithidia factor) excretion was low. An increase in serum biopterin following L-phenylalanine loading was not found. Dihydropteridine reductase activity in his skin fibroblasts was normal. He excreated large amounts of erythro- and threo-neopterins (but only a trace of biopterin) in his urine. After loading with phenylalanine the urinary excretion of neopterins was even more enhanced, but biopterin remained at low levels. These findings indicated that the patient has a dihydrobiopterin synthetase deficiency.