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Eyelid mass as the presenting finding in a child with Down syndrome and acute megakaryoblastic leukemia
Claudio Sandoval1, Adam Davis, Somasundaram Jayabose
1Department of Pediatrics, New York Medical College, Munger Pavilion, Room 110, Valhalla, NY 10595, USA. claudio_sandoval@nymc.edu
Insights
Children with Down syndrome have a higher risk of acute megakaryoblastic leukemia (AML). Early recognition of AML symptoms, like an eyelid mass, is crucial for timely diagnosis and treatment in these children.
Area of Science:
- Pediatric Oncology
- Hematology
- Genetics
Background:
- Children with Down syndrome (DS) exhibit a significantly elevated risk for developing acute megakaryoblastic leukemia (AML).
- Familiarity with the diverse clinical presentations of AML is essential for healthcare providers managing pediatric patients with DS.
Observation:
- A case study involving a child diagnosed with acute AML is presented.
- This child, who had Down syndrome, initially presented with a unilateral eyelid mass.
Findings:
- The eyelid mass was observed approximately one month prior to the definitive diagnosis of acute AML.
- This case highlights an unusual, potentially overlooked, presenting sign of AML in children with Down syndrome.
Implications:
- Increased awareness among clinicians regarding atypical presentations of AML in pediatric Down syndrome patients is warranted.
- Prompt investigation of new clinical signs in children with DS may facilitate earlier detection of hematologic malignancies.
- This case underscores the importance of a comprehensive diagnostic approach for children with Down syndrome presenting with concerning symptoms.
Abstract:
Children with Down syndrome are at increased risk of developing acute megakaryoblastic leukemia (AML). Therefore, physicians caring for children with Down syndrome should be familiar with the presenting features of AML. We describe a child with Down syndrome presenting with a left eyelid mass 1 month before a diagnosis of acute AML.
