Hemophagocytic lymphohystiocytosis (HLH) may be primary (inherited/familial) or secondary to infections, malignancies, and metabolic diseases. Cases including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis have previously been reported. It is unclear how the metabolites trigger HLH in metabolic diseases. A 2-month-old infant with lethargy, pallor, poor feeding, hepatosplenomegaly, fever and pancytopenia, was diagnosed with HLH and the HLH-2004 treatment protocol was initiated. Analysis for primary HLH gene mutations and metabolic screening tests were performed together; primary HLH gene mutations were negative, but hyperammonemia and elevated methyl citrate were detected. Propionic acidemia was diagnosed with tandem mass spectrometry in neonatal dried blood spot. We report this case of HLH secondary to propionic acidemia. Both metabolic disorder screening tests and gene mutation analysis may be performed simultaneously especially for early diagnosis in infants presenting with HLH.

Background: The inability to ensure adequate nutrition for patients, and failure to provide adequate calorie and protein intake, result in malnutrition, leading to increased morbidity and mortality. The present study assesses the two approaches to enteral nutrition—intermittent and continuous enteral feeding—in critically ill pediatric patients in Türkiye to determine the superiority of one method over the other. Methods: Included in this multicenter prospective study were patients receiving enteral nutrition via a tube who were followed up over a 3-month period. Anthropometric data, calorie and protein intake, and signs of feeding intolerance were evaluated in a comparison of the different feeding methods. Results: A total of 510 patients were examined. In the continuous enteral feeding (CEF) group, 20.2% of patients developed metabolic abnormalities, and 49.5% experienced enteral nutrition intolerance, both of which were higher than in the intermittent enteral feeding (IEF) group, and the differences were statistically significant. No significant differences were observed between the two feeding methods in terms of reaching the target calorie intake on days 2 and 7 (p > 0.05). On day 7, there were significant differences between the two feeding methods in terms of calorie and protein intake (p = 0.023 and 0.014, respectively). Conclusions: In the present study, assessing the IEF and CEF approaches to enteral nutrition, critically ill pediatric patients receiving intermittent feeding exhibited lower rates of enteral nutrition intolerance and metabolic abnormalities. Furthermore, the calorie and protein intake on day 7 were noted to be higher in the IEF group than in the CEF group. Further randomized controlled trials are needed to confirm the findings of the present study.