Esophageal atresia and transient myeloproliferative disorder in a newborn with Down syndrome: A case report
DOI:
https://doi.org/10.37800/RM.4.2025.596Keywords:
Esophageal atresia (EA), Down syndrome, Transient myeloproliferative disorder (TMD), newborn, thoracic surgeryAbstract
Relevance: Esophageal atresia (EA) is a life-threatening congenital anomaly that requires urgent surgical intervention in the neonatal period. In newborns with trisomy 21, this condition is often accompanied by other anomalies such as congenital heart defects and transient abnormal proliferation of myeloid cells. The coexistence of EA and TMD is extremely rare, making such clinical observations valuable for multidisciplinary neonatal care.
The article reports a case of a full-term female newborn with prenatally diagnosed esophageal atresia and suspected Down syndrome.
Materials and Methods: The article presents a clinical case of a newborn female admitted to the neonatal intensive care unit of the National Research Center for Maternal and Child Health (UMC, Astana, Kazakhstan) with a diagnosis of EA with tracheoesophageal fistula and suspected Down syndrome. The patient underwent surgical correction of EA on the first day of life, after which signs of transient myeloproliferative disorder were identified. All procedures were performed in accordance with institutional standards and ethical guidelines.
Results: Postnatal evaluation confirmed the presence of a distal tracheoesophageal fistula and a transient myeloproliferative disorder, which required both surgical repair and low-dose cytotoxic therapy. Despite the development of cholestasis and metabolic disturbances during treatment, the infant had a favorable clinical outcome.
Conclusion: This case emphasizes the importance of multidisciplinary management in neonates with combined structural and hematological abnormalities, highlighting the need for early diagnosis and timely intervention to improve outcomes.
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