Ezgi BURGAÇ, Merve YOLDAŞ ÇELİK, Burcu KÖSECİ
Türkiye Çocuk Hastalıkları Dergisi - 2026;20(3):197-201
Objective: Hepatomegaly and/or splenomegaly (HSM) are common clinical findings with a broad differential diagnosis, including infectious, hematologic, malignant, and inherited metabolic diseases. Although inborn errors of metabolism (IEM) are rare, they constitute critical and often treatable causes of HSM. This study aimed to evaluate pediatric patients presenting with hepatomegaly and/or splenomegaly for underlying metabolic disorders and to identify diagnostic indicators that may facilitate early recognition and appropriate management of IEM. Materials and Methods: This retrospective study evaluated 223 children presenting with hepatomegaly, splenomegaly, or hepatosplenomegaly between June 2023 and October 2025 at a pediatric metabolic clinic. Only those with genetically confirmed diagnoses of IEM were included in the final cohort. Clinical features and laboratory findings were evaluated. Results: Twenty-seven patients (15.4%) received a confirmed IEM diagnosis. The most frequent disorders were glycogen storage diseases (n=13, 7.4%), followed by Gaucher disease (n=6, 3.4%), acid sphingomyelinase deficiency (n=3, 1.7%), and single cases of Niemann-Pick type C, Mucopolysaccharidosis type II, GM1 gangliosidosis, hereditary fructose intolerance, and galactosemia. Consanguinity was present in 84.6%, and characteristic systemic findings such as hypoglycemia, hyperlipidemia, cytopenias, cholestasis, neurological involvement, or coarse facies served as critical diagnostic clues. Conclusion: Inborn errors of metabolism should be considered in children presenting with hepatomegaly and/or splenomegaly, particularly in the presence of accompanying systemic findings, especially in regions with high consanguinity rates. Recognition of diagnostic clues may facilitate earlier referral, reduce diagnostic delays, and enable timely initiation of disease specific treatments, including enzyme replacement therapy or dietary modification.
