Sudden unexpected death caused by infantile acute lymphoblastic leukaemia

Area of Science:

• Pediatric Oncology
• Hematology
• Genetics

Background:

• Infantile acute lymphoblastic leukemia (ALL) is a rare but aggressive cancer.
• KMT2A gene rearrangements are a known genetic driver in some ALL cases.
• The COVID-19 pandemic led to reduced outpatient consultations, potentially delaying diagnoses.

Observation:

• A 7-week-old infant presented with sudden respiratory distress and cardiac arrest.
• Investigations revealed severe anemia and a high white blood cell count.
• A skin nodule appeared after a normal 4-week check-up, but medical consultation was deferred due to COVID-19 concerns.

Findings:

• Post-mortem cytogenetic analysis identified KMT2A-rearranged infantile acute lymphoblastic leukemia as the cause of death.
• The rapid progression of leukemia was likely exacerbated by delayed diagnosis.

Implications:

• This case highlights the critical importance of early detection and diagnosis in infantile leukemia.
• The study underscores the detrimental impact of reduced healthcare access during the pandemic on pediatric cancer outcomes.
• Prompt medical evaluation for concerning symptoms, even during a pandemic, is crucial for improving patient prognosis.