Spanish National Registry of Paediatric Coeliac Disease: Changes in the Clinical Presentation in the 21st Century.

OBJECTIVES: Over the last several decades, there has been a tendency towards a predominance of less symptomatic forms of coeliac disease (CD) and an increase in the patient age at diagnosis. This study aimed to assess the clinical presentation and diagnostic process of paediatric CD in Spain. METHODS: A nationwide prospective, observational, multicentre registry of new paediatric CD cases was conducted from January 2011 to June 2017. The data regarding demographic variables, type of birth, breast-feeding history, family history of CD, symptoms, height and weight, associated conditions, serological markers, human leukocyte antigen (HLA) phenotype, and histopathological findings were collected. RESULTS: In total, 4838 cases (61% girls) from 73 centres were registered. The median age at diagnosis was 4 years. Gastrointestinal symptoms were detected in 71.4% of the patients, and diarrhoea was the most frequent symptom (45.9%). The most common clinical presentation was the classical form (65.1%) whereas 9.8% ofthe patients were asymptomatic. There was a trend towards an increase in the age at diagnosis, proportion of asymptomatic CD cases, and usage of anti-deamidated gliadin peptide antibodies and HLA typing for CD diagnosis. There was, however, a decreasing trend in the proportion of patients undergoing biopsies. Some of these significant trend changes may reflect the effects of the 2012 ESPGHAN diagnosis guidelines. CONCLUSIONS: Paediatric CD in Spain is evolving in the same direction as in the rest of Europe, although classical CD remains the most common presentation form, and the age at diagnosis remains relatively low.

Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature.

Autoimmune lymphoproliferative syndrome is a primary immunodeficiency caused by variants in FAS-mediated apoptosis related genes and is characterized by lymphadenopathy, splenomegaly and autoimmunity. A total of six different variants in CASP10 have been described as potential causative of disease, although two of them have recently been considered polymorphisms. The high allele frequency of these variants in healthy population in addition to the broad clinical spectrum of the disease difficult the interpretation of their pathogenicity. Here, we describe the clinical and analytical findings of three new patients carrying variants in CASP10 and summarize 12 more cases from the literature. Autoimmune cytopenias, adenopathies and increment of TCRαß+CD4-CD8- cells have been the most common findings, being possibly the FAS-mediated apoptosis pathway the pathogenic mechanism of this disease. The clinical impact and the consequences of CASP10 variants are not fully elucidated, therefore the description of new cases will contribute to solve this issue.

Acute Terminal Ileitis in Children: A Retrospective Study in a Pediatric Emergency Department.

OBJECTIVES: This study aims to describe the clinical presentation and outcome of patients diagnosed with acute ileitis in our pediatric emergency department. METHODS: We performed a retrospective study of all patients diagnosed with terminal ileitis by abdominal ultrasonography findings in our pediatric emergency department, over the years 2013 and 2014. Patients with previous diagnosis of inflammatory bowel disease (IBD) were excluded. Data collected were clinical, radiological, and laboratory data at diagnosis; outcome including hospitalization care; and outpatient follow-up in pediatric gastroenterology and/or primary care. RESULTS: A total of 20 cases were retrieved and studied. All of them presented with abdominal pain, 65% located in the right lower quadrant. Leukocyte count, C-reactive protein, and fibrinogen levels (means, 12,889; 4/µL; 50.1 mg/L; and 575 mg/dL, respectively) were above normal range. Hemoglobin and platelet count were normal. A microbial cause of ileitis was found in 3 cases (Yersinia enterocolitica, Campylobacter jejuni, and Adenovirus). Nine patients were referred to a pediatric gastroenterology unit. No cases of IBD were found. CONCLUSIONS: Acute ileitis is a rare and benign cause of abdominal pain in the pediatric emergency department. The main intervention on initial assessment is to rule out potentially severe causes of abdominal pain that could benefit of an emergency surgical procedure. In contrast with adults and adolescents, acute ileitis in children does not have a clear association with development of IBD.