Characteristics of the Inflammatory Bowel Disease in Children: A Croatian Single-Centre Retrospective Study.

Inflammatory bowel diseases (IBDs), encompassing ulcerative colitis (UC) and Crohn's disease (CD), are chronic gastrointestinal disorders often diagnosed in youth, presenting unique features compared to adult-onset cases. We aimed to profile pediatric IBD patients in Croatia through a retrospective analysis of children up to 18 years old diagnosed with IBD at the University Hospital of Split from 1 January 2012, to 31 December 2021, utilizing data collected during hospitalization for diagnosis. Over a decade, 107 children were diagnosed, with 43.9% having UC, 55.1% CD, and 0.9% IBD-unclassified. Median age at diagnosis was 14.1 years, with UC patients being older (14.8 vs. 13.7 years, p = 0.044). Males constituted 60.7% of patients. Median symptom duration was 2.0 months, with CD patients experiencing a longer diagnostic delay (3.0 vs. 2.0 months, p = 0.003). The median incidence rate was 9.89 (95% CI 5.93-13.84) per 100,000 children/year, varying across age groups. Median (IQR) BMI z-score was -0.34 (-0.97-0.45). Common symptoms included diarrhea (60.7%) and abdominal pain (50.5%), with rectal bleeding more prevalent in UC (72.3% vs. 32.2%, p < 0.001). While our study offers valuable insights into pediatric IBD in Croatia, further prospective research is needed to clarify disease progression and development.

Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members.

Introduction: Bardet-Biedl syndrome (BBS) is a rare genetic syndrome caused by a mutation in one of 26 different genes responsible for normal structure and/or function of primary cilia. The syndrome is characterized by multiorgan involvement with gradual onset of occurrence of clinical signs and symptoms resulting in great phenotypic variability and what is more important, often difficulties with establishing the timely diagnosis. Case report: We report a case of a one family with three members with BBS caused by a very rare mutation, a compound heterozygosity in BB12 gene. Even though all three patients have the same type of mutation, they express a significant diversity in clinical expression as well as renal impairment. Conclusion: This is a case report of a rare clinical syndrome caused by a very rare genetic mutation and it emphasizes the importance of genetic analysis in the timely diagnosis of oligosymptomatic patients with BBS, in order to possibly prevent long-term complications.

McCune-Albright Syndrome in Infant with Growth Hormone Excess.

BACKGROUND: McCune-Albright is a rare syndrome, caused by mutation of the GNAS1 gene, and is characterized by an appearance of multiple endocrinopathies, most commonly premature puberty, polyostotic fibrous dysplasia and skin changes called cafe au lait macules. CASE REPORT: We present the case of a patient who is, to the best of our knowledge and after extensive review of literature, the youngest McCune-Albright syndrome patient with growth hormone excess, diagnosed at 8.9 months of age. An extensive diagnostic procedure was done upon the diagnosis. Hormonal assessment was performed and all hormone levels were within reference range, and an additional oral glucose suppression that noted the presence of growth hormone excess. Magnetic resonance imaging of the pituitary gland did not detect a tumor process. The genetic analysis of the GNAS1 gene from skin punch biopsy came back negative. Octreotide was administered as therapy for growth hormone excess at 9.8 months. After the introduction of therapy, we noted a decrease in growth rate from 29.38 to 16.6 cm/year. CONCLUSION: This case report emphasizes the lack of available data on treatment of growth hormone excess and follow-up in pediatric population and the need for further research.

Chronic hyponatremia based on maxillary sinus mass.

SUMMARY: This is a case report of a child with chronic hyponatremia due to the syndrome of inappropriate antidiuretic hormone secretion (SIADH) as a paraneoplastic manifestation of olfactory neuroblastoma (OFN). We hereby report a clinical presentation as well as a pragmatic approach to one of the most common electrolytic disorders in the pediatric population and have emphasized the necessity of involving the sinonasal area in the diagnostic procedure while evaluating possible causes of SIADH. This report indicates that the chronicity of the process along with the gradual onset of hyponatremia occurrence is responsible for the lack of neurological symptoms at the moment of disease presentation. LEARNING POINTS: Hyponatremia is not infrequently attributed to SIADH. Paraneoplastic syndromes are uncommon but they should be considered in the differential diagnosis of pediatric SIADH. Chronic insidious hyponatremia may not be associated with clear neurological symptoms despite its severity.