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Author: search.filters.author.Andreevska Stepanovska, AndrijanaStart date: 2025

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    MECONIUM ILEUS AS INITIAL PRESENTATION OF CYSTIC FIBROSIS: A RETROSPECTIVE CASE SERIES FROM A MACEDONIAN PEDIATRIC CYSTIC FIBROSIS CENTER
    (University Ss. Cyril and Methodius in Skopje, 2025-12-16)
    Krsteska, Elena
    ;
    Spirevska, Lidija
    ;
    Andreevska Stepanovska, Andrijana
    ;
    ;
    Jordanova, Olivera
    Introduction: Meconium ileus (MI) is often the earliest clinical sign of cystic fibrosis (CF), caused by intestinal obstruction due to thickened meconium from CFTR dysfunction. MI is commonly associated with severe CFTR mutations (classes I-III), which impair chloride and bicarbonate transport. Case report: We report a retrospective case series of six neonates with MI, diagnosed with CF at Pediatric CF Center at University Children’s Clinic, Skopje, over the last eight years. During this period, newborn bloodspot screening (NBS) program for CF was conducted, based on two sequential measurements of immunoreactive trypsinogen (IRT) and IRT-IRT protocol. All infants presented with early intestinal obstruction requiring surgical intervention, including enterotomy and ileostomy. Postoperative care included pancreatic enzyme therapy and nutritional support. CF diagnosis was confirmed via sweat chloride testing and genetic analysis, which showed a predominant presence of the F508del mutation in homozygous or compound heterozygous forms. Despite timely surgical intervention, three infants experienced severe complications and early mortality. It is noteworthy that one of these cases had false-negative NBS result, highlighting limitations of the IRT-IRT protocol in MI cases. The remaining patients showed varied recovery and nutritional outcomes. Conclusions: MI is a known cause of false-negative results in CF NBS, as IRT levels may be low in affected neonates. Therefore, any newborn presenting with MI should be presumed to have CF until proven otherwise. Confirmation requires sweat chloride testing and genetic analysis. These findings support the need for revised CF NBS protocols in all MI cases to ensure timely diagnosis and management.
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    Appendiceal neuroendocrine tumor in a pediatric patient – A case report
    (Институт за јавно здравје на Република Македонија = Institute of public health of Republic of Macedonia, 2026-02)
    Jovcheski, Lazo
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    ;
    Andonovska Dokovska, Biljana
    ;
    Stepanovski, Aleksandar
    ;
    Gjorik, Sanja
    Appendiceal neuroendocrine tumors (NETs) are the most common appendiceal neoplasms but remain rare in the pediatric population. They often present with clinical features mimicking acute appendicitis and are therefore usually diagnosed incidentally on histopathological examination after appendectomy. Prompt identification is crucial, as tumor characteristics determine management and prognosis. We report a case of a 13-year-old girl presenting with clinical and radiological signs of acute appendicitis due to fecalith obstruction and a right ovary cyst. Laparoscopic appendectomy and ovarian cystectomy were performed without intraoperative suspicion of malignancy. Histopathological analysis revealed a well-differentiated neuroendocrine tumor measuring 1.5 cm localized near the tip of the appendix. The lesion infiltrated all the layers of the appendix wall and penetrated the serosa, without lymphovascular invasion or mesoappendiceal extension. Immunohistochemical staining confirmed the diagnosis. Multidisciplinary tumor board decision guided further management and the patient remains disease-free at twelve-month follow-up. Outcome was promising with no recurrence, metastasis, complications, or need for additional therapy observed during follow-up. The discussion section emphasizes the critical role of histopathological analysis of appendectomy specimens and gives further recommendations for efficient management of appendiceal NETs in children, depending on tumor size and histological risk features. Appendectomy alone is usually sufficient for tumors less than 2 cm without invasion. This case underscores the critical role of histopathological vigilance and multidisciplinary care in pediatric surgical oncology.