A Case of Multisystem Inflammatory Syndrome in Children Presenting as Acute Appendicitis and Pancreatitis.

Multisystem Inflammatory Syndrome in Children (MIS-C) is characterized by an inflammation with fever, elevated inflammatory markers, conjunctivitis, rash, impaired coagulation, gastrointestinal symptoms and cardiac abnormalities that may progress to multiorgan failure. The presence of a positive COVID-19 antigen via a PCR test, serological testing for antibodies or close contact with a person diagnosed with COVID-19 helps differentiate MIS-C from other diseases. Gastrointestinal symptoms are recognized to be associated with COVID-19 infection or MIS-C in children, presenting as abdominal pain, gastrointestinal infection with watery stools, appendicitis, ileitis, pancreatitis and hepatitis, confusing the diagnosis with other gastrointestinal diseases. In this case report, we describe an 11 year old boy with MIS-C, who presents acute phlegmona of the appendix for which he undergoes appendectomy, accompanied with acute pancreatitis. These manifestations of MIS-C in our patient resolved without additional complications after a 2 month follow up. We call attention to MIS-C presenting in pediatric patients with fever and abdominal pain which might be caused by appendicitis and pancreatitis, and we recommend abdominal imaging and additional laboratory investigation to promote earlier diagnosis.

Adverse Reactions to Intravenous Immunoglobulins - Our Experience.

BACKGROUND: Adverse reactions to intravenous immunoglobulins (IVIG) are divided by organ system involved, or by timing of onset-immediate which occur during infusion usually rate-related, true IgE-mediated anaphylaxis and delayed reaction which occur hours to days after the infusion. AIM: To describe the adverse events of patients given IVIG infusions. METHODS: Total number of patients receiving IVIG was 41 with 25 males (60.97%) and 16 females (39.02%), age 2 months-35 years. A total number of infusions was 1350. RESULTS: Total number of adverse reactions 15, 14 patients with immediate-type and 1 with delayed type. Total percentage of adverse reactions in a given sample was 1.1% of all IVIG infusions. Fever was the most common immediate type of reaction occurring in 11 patients (78.57%) followed by acrocyanosis 10 patients (71.42%), skin rash 9 patients (64.28%) and headache 8 patients (57.14). Delayed-type of reactions (like fever, headache and vomiting) was present in one patient. Majority of the adverse effects occurred at the infusion rate higher than 1, 5 ml/kg/hour, which is still within recommended speed. CONCLUSION: About 1.1% of IVG infusions where with adverse events. Most common manifestations where: fever, acrocyanosis, skin rash and headache, which occurred 1-6 hours from the beginning of the infusion. The occurrence of adverse reactions to IVIG was related to the infusion rates in a fashion that faster infusion rate gives more reactions. Adverse reactions were managed by reduction of the infusion rate and administration of medications such as paracetamol, antihistamines and steroids.

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.

Primary immunodeficiency disorders are a recognized public health problem worldwide. The prototype of these conditions is X-linked agammaglobulinemia (XLA) or Bruton's disease. XLA is caused by mutations in Bruton's tyrosine kinase gene (BTK), preventing B cell development and resulting in the almost total absence of serum immunoglobulins. The genetic profile and prevalence of XLA have not previously been studied in Eastern and Central European (ECE) countries. We studied the genetic and demographic features of XLA in Belarus, Croatia Hungary, Poland, Republic of Macedonia, Romania, Russia, Serbia, Slovenia, and Ukraine. We collected clinical, immunological, and genetic information for 122 patients from 109 families. The BTK gene was sequenced from the genomic DNA of patients with a high susceptibility to infection, almost no CD19(+) peripheral blood B cells, and low or undetectable levels of serum immunoglobulins M, G, and A, compatible with a clinical and immunological diagnosis of XLA. BTK sequence analysis revealed 98 different mutations, 46 of which are reported for the first time here. The mutations included single nucleotide changes in the coding exons (35 missense and 17 nonsense), 23 splicing defects, 13 small deletions, 7 large deletions, and 3 insertions. The mutations were scattered throughout the BTK gene and most frequently concerned the SH1 domain; no missense mutation was detected in the SH3 domain. The prevalence of XLA in ECE countries (total population 145,530,870) was found to be 1 per 1,399,000 individuals. This report provides the first comprehensive overview of the molecular genetic and demographic features of XLA in Eastern and Central Europe.