Zeitschrift für Kinderheilkunde

The biochemical and therapeutic responses to dietary therapy were studied in a 25-month-old girl and a 1-month-old girl with methylmalonic acidemia (MMA-emia), which was unresponsive to vitamin B12. The minimum daily intake of protein which patients could tolerate and display a good development was between 1.0 and 1.2 g per kg body weight. Supplementation with amino acid mixture devoid of toxic amino acids was required to prevent protein malnutrition when daily protein intake was restricted to 0.6 g per kg body weight. Caloric intake should be sufficient, not only to promote growth but also to prevent a rise in MMA level, especially when a patient has ketoacidosis. It was found that MMA excretion per mg creatinine in random urine specimens correlated significantly with serum MMA and twenty four-hour output of MMA per kg body weight. Therefore measurement of MMA in a single urine specimen is useful for evaluating the in vivo accumulation of MMA.

An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.

A 5.5-year-old child with nephrotic syndrome was treated with cyclophosphamide. After 9 weeks of therapy she developed jaundice and abnormal liver function tests. No infective aetiology was found and the abnormal liver function tests resolved within 5 weeks of discontinuing cyclophosphamide. Cyclophosphamide has rarely been reported to cause liver dysfunction, but not in children treated for nephrotic syndrome, and paediatricians should therefore be aware of its potential for inducing reversible hepatic dysfunction.

Screening for COVID-19 is based on clinical and epidemiological factors. Children infected with SARS-CoV-2 may have a few or many non-specific symptoms or may be asymptomatic. The aim of this study was to analyze clinical features and exposure to SARS-CoV-2 characteristics of children screened for COVID-19 at the pediatric emergency department in Vilnius during the first 3 months (March–May) of the COVID-19 pandemic in Lithuania. SARS-CoV-2 PCR was positive for 0.6% (8/1348) of all screened children and for 0.9% (7/811) of symptomatic patients, more among children with fever and cough (2.6%, 4/154). There were also COVID-19 cases among children without cough but with other respiratory symptoms (0.5%, 2/409) or gastrointestinal symptoms (1.2%, 3/257). Only one child with positive SARS-CoV-2 did not meet COVID-19 clinical criteria—he presented with vomiting and dehydration only. All COVID-19 cases (n = 8) had a contact with a confirmed COVID-19 family member. There were no COVID-19 cases among children without known exposure to SARS-CoV-2 or among asymptomatic children. Conclusion: Screening for COVID-19 in children is exceptionally challenging due to the diverse and non-specific symptoms of infection they present. Testing strategies should not only focus on the typical COVID-19 symptoms of fever or cough, but also include other symptoms, especially gastrointestinal symptoms, which are also important. The greatest attention should be paid to known exposure to SARS-CoV-2, especially in family clusters. Screening of asymptomatic children with no known exposure should be weighed for medical necessity and cost-effectiveness.

From the time of its discovery in 1905 until the first description of its deficiency in 1973, the role of carnitine in intermediary metabolism was decidedly vague. Identification of carnitine acyl transferases and their products, acylcarnitines, have paved the way to the confirmation of the importance of carnitine in the transfer of fatty acid CoAs into the mitochondrion for β-oxidation and energy production. The elucidation of defects in fatty acid oxidation together with the concept of carnitine therapy in certain organoacidaemias have given a new meaning to the term acylcarnitine. Not only are these compounds of diagnostic importance, their formation may be part of a secondary carnitine depletion which may be brought about as a result of various medications. Recent evidence suggests that long-chain acylcarnitines are responsible for cardiac arrhythmias and other effects, both good and bad, will certainly be found. This review will attempt to highlight the importance of acylcarnitines, from their production, the difficulties in analysis, the diagnostic possibilities and their positive and negative effects on intermediary metabolism.

Histologische Untersuchungen am Mäusegehirn und Messungen der Methylenblau-Aufnahme des Rattengehirns zeigten, daß nach intraperitonealer Applikation größerer Mengen von ACTH (2,5-4 IE/Maus, 8 IE/Ratte) eine Erniedrigung der Blut/Hirnschranke mit Ausbildung perivasculärer Ödemherde eintritt. Diese Reaktionen können durch den Roßkastanienextrakt Venostasin oder den sogenannten “Ganglien-blocker” Pendiomid vermindert oder aufgehoben werden. Die mögliche pathogenetische und therapeutische Bedeutung der erhobenen Befunde für die Klinik werden besprochen.