Recommended Citation
DeJournett D, Sarvida MT, Matics TJ. From Bronchioles to Blasts: A Diagnostic Turn in a High-Risk Infant. Presented at Scientific Day; May 20, 2026; Milwaukee, WI.
Abstract
Background/Significance:
Acute respiratory distress in infancy is commonly attributed to viral bronchiolitis; however, children with trisomy 21 represent a high-risk population in whom alternative diagnoses must be considered. In these patients, respiratory symptoms may reflect congenital heart disease, pulmonary hypertension, airway anomalies, reactive airway disease, and many more pathologies. In the setting of subtle bleeding manifestations, it is important to include hematologic and oncologic diseases in the initial diagnostic approach.
Description:
An 11-month-old male with trisomy 21, bicuspid aortic valve with aortic root dilation, laryngomalacia, and dysphagia presented to the emergency department for three days of congestion, increased work of breathing, diarrhea, and decreased oral intake. On physical exams, he was in respiratory distress with notable petechiae on the forehead, which was attributed to excessive coughing and crying at the time. He was presumed to have viral bronchiolitis, placed on supplemental oxygen, and admitted to the inpatient floor for supportive care. On hospital day two, he developed high fevers and significant bruising at an intravenous site. A complete blood count was obtained and revealed marked leukocytosis, anemia, and thrombocytopenia. Peripheral smear showed circulating blasts, and cytologic evaluation confirmed acute myeloid leukemia. Due to concern for coagulopathy and tumor lysis syndrome, he was transferred to the pediatric intensive care unit for monitoring and initiation of leukemia-directed therapy.
Discussion:
Trisomy 21 confers a 10-to-20-fold greater likelihood of acute leukemia, with myeloid leukemia of Down syndrome (ML-DS) occurring in 1–2% of affected children. Transient abnormal myelopoiesis develops in up to 10% of neonates with trisomy 21 and progresses to acute myeloid leukemia in 20– 30% of cases within the first four years of life. In these patients, leukemogenesis results from genetic–associated perturbations in fetal hematopoiesis and acquired GATA1 mutations, producing a biologically distinct leukemia that has increased chemosensitivity but heightened treatment-related toxicity. Prompt recognition is critical, as ML-DS demonstrates favorable survival with the appropriate chemotherapy. Because early presentations may be clinically indistinct, this case highlights the need to avoid diagnostic anchoring and maintain a broad differential to ensure timely recognition and improved outcomes for high-risk pediatric populations.
Presentation Notes
Presented at Scientific Day; May 20, 2026; Milwaukee, WI.
Full Text of Presentation
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Document Type
Poster
Open Access
Available to all.
From Bronchioles to Blasts: A Diagnostic Turn in a High-Risk Infant
Background/Significance:
Acute respiratory distress in infancy is commonly attributed to viral bronchiolitis; however, children with trisomy 21 represent a high-risk population in whom alternative diagnoses must be considered. In these patients, respiratory symptoms may reflect congenital heart disease, pulmonary hypertension, airway anomalies, reactive airway disease, and many more pathologies. In the setting of subtle bleeding manifestations, it is important to include hematologic and oncologic diseases in the initial diagnostic approach.
Description:
An 11-month-old male with trisomy 21, bicuspid aortic valve with aortic root dilation, laryngomalacia, and dysphagia presented to the emergency department for three days of congestion, increased work of breathing, diarrhea, and decreased oral intake. On physical exams, he was in respiratory distress with notable petechiae on the forehead, which was attributed to excessive coughing and crying at the time. He was presumed to have viral bronchiolitis, placed on supplemental oxygen, and admitted to the inpatient floor for supportive care. On hospital day two, he developed high fevers and significant bruising at an intravenous site. A complete blood count was obtained and revealed marked leukocytosis, anemia, and thrombocytopenia. Peripheral smear showed circulating blasts, and cytologic evaluation confirmed acute myeloid leukemia. Due to concern for coagulopathy and tumor lysis syndrome, he was transferred to the pediatric intensive care unit for monitoring and initiation of leukemia-directed therapy.
Discussion:
Trisomy 21 confers a 10-to-20-fold greater likelihood of acute leukemia, with myeloid leukemia of Down syndrome (ML-DS) occurring in 1–2% of affected children. Transient abnormal myelopoiesis develops in up to 10% of neonates with trisomy 21 and progresses to acute myeloid leukemia in 20– 30% of cases within the first four years of life. In these patients, leukemogenesis results from genetic–associated perturbations in fetal hematopoiesis and acquired GATA1 mutations, producing a biologically distinct leukemia that has increased chemosensitivity but heightened treatment-related toxicity. Prompt recognition is critical, as ML-DS demonstrates favorable survival with the appropriate chemotherapy. Because early presentations may be clinically indistinct, this case highlights the need to avoid diagnostic anchoring and maintain a broad differential to ensure timely recognition and improved outcomes for high-risk pediatric populations.
Affiliations
Advocate Children's Hospital