Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit
Abstract
Purpose: Hepatomegaly, splenomegaly and hepatosplenomegaly in children can be due to infections, genetic liver diseases, hematological diseases or malignancies, autoimmune disorders, and also inborn errors of metabolism (IEM). Some IEM’s have specific treatments which should be started before irreversible complications occur. The aim of this study is to evaluate the etiological causes of visceromegaly in pediatric patients and assess the clinical findings of patients having an IEM.
Materials and Methods: In this study, medical records of 93 patients who were referred to Pediatric Metabolism Unit in a tertiary care hospital with the suspicion of IEM-related hepatomegaly, splenomegaly or hepatosplenomegaly were reviewed retrospectively.
Results: 45 patients had hepatomegaly, 18 had splenomegaly and 30 had hepatosplenomegaly. A total of 52 patients were diagnosed as having an IEM. 32 patients were lost to follow-up. The eventual diagnoses of 9 patients were not IEM.
Conclusion: IEMs present from prenatal period to adulthood. Awareness of clinicians and diagnostic algorithms can prevent delayed diagnosis and enable early treatment for treatable IEMs or provide genetic counseling for the patient’s family.
References
- Curovic Rotbain E, Lund Hansen D, Schaffalitzky de Muckadell O, Wibrand F, Meldgaard Lund A, Frederiksen H. Splenomegaly - Diagnostic validity, work-up, and underlying causes. PLoS One 2017;12(11):e0186674. DOI: 10.1371/journal.pone.0186674
- Sjoberg BP, Menias CO, Lubner MG, Mellnick VM, Pickhardt PJ. Splenomegaly: A Combined Clinical and Radiologic Approach to the Differential Diagnosis. Gastroenterol Clin North Am 2018;47(3):643-66. DOI: 10.1016/j.gtc.2018.04.009
- Konuş OL, Ozdemir A, Akkaya A, Erbaş G, Celik H, Işik S. Normal liver, spleen, and kidney dimensions in neonates, infants, and children: evaluation with sonography. AJR Am J Roentgenol 1998;171(6):1693-8. DOI: 10.2214/ajr.171.6.9843315.
- Poojari V, Shah I, Shetty NS, Mirani S, Tolani D. Clinical profile and outcome of glycogen storage disease in Indian children. Trop Doct 2021;51(2):189-92. DOI: 10.1177/0049475520961935
- Oussoren E, Wagenmakers MAEM, Link B, van der Meijden JC, Pijnappel WWMP, Ruijter GJG, et al. Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives. Bone 2021;143:115729. DOI: 10.1016/j.bone.2020.115729
- Yıldız Y, Sivri HS. Inborn errors of metabolism in the differential diagnosis of fatty liver disease. Turk J Gastroenterol 2020;31(1):3-16. DOI: 10.5152/tjg.2019.19367
Abstract
References
- Curovic Rotbain E, Lund Hansen D, Schaffalitzky de Muckadell O, Wibrand F, Meldgaard Lund A, Frederiksen H. Splenomegaly - Diagnostic validity, work-up, and underlying causes. PLoS One 2017;12(11):e0186674. DOI: 10.1371/journal.pone.0186674
- Sjoberg BP, Menias CO, Lubner MG, Mellnick VM, Pickhardt PJ. Splenomegaly: A Combined Clinical and Radiologic Approach to the Differential Diagnosis. Gastroenterol Clin North Am 2018;47(3):643-66. DOI: 10.1016/j.gtc.2018.04.009
- Konuş OL, Ozdemir A, Akkaya A, Erbaş G, Celik H, Işik S. Normal liver, spleen, and kidney dimensions in neonates, infants, and children: evaluation with sonography. AJR Am J Roentgenol 1998;171(6):1693-8. DOI: 10.2214/ajr.171.6.9843315.
- Poojari V, Shah I, Shetty NS, Mirani S, Tolani D. Clinical profile and outcome of glycogen storage disease in Indian children. Trop Doct 2021;51(2):189-92. DOI: 10.1177/0049475520961935
- Oussoren E, Wagenmakers MAEM, Link B, van der Meijden JC, Pijnappel WWMP, Ruijter GJG, et al. Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives. Bone 2021;143:115729. DOI: 10.1016/j.bone.2020.115729
- Yıldız Y, Sivri HS. Inborn errors of metabolism in the differential diagnosis of fatty liver disease. Turk J Gastroenterol 2020;31(1):3-16. DOI: 10.5152/tjg.2019.19367
Details
| Primary Language | English |
|---|---|
| Subjects | Paediatrics |
| Journal Section | Research Article |
| Authors | |
| Publication Date | July 1, 2022 |
| Submission Date | August 27, 2021 |
| Published in Issue | Year 2022 |