What are the possible causes of splenic infarction in a 2‑year‑old without sickle cell disease or abdominal trauma?

Possible Causes of Splenic Infarction in a 2-Year-Old Without Sickle Cell Disease or Trauma

In a 2-year-old without sickle cell disease or trauma, the most likely causes of splenic infarction are hematologic disorders (particularly other hemoglobinopathies, hereditary spherocytosis, or leukemia), emboligenic cardiac disease, and acute infections—with hematologic conditions being most common in this age group. 1, 2

Age-Specific Etiologic Framework

The etiology of splenic infarction varies dramatically by age. In patients under 40 years old, hematologic disorders are the predominant cause, while embolic events dominate in older patients. 2 For a 2-year-old specifically, you must prioritize:

Primary Hematologic Causes

• Chronic Myeloid Leukemia (CML): CML in children commonly presents with massive splenomegaly and splenic complications including infarction, with 20% presenting with splenomegaly-related symptoms at diagnosis. 3 The spectrum ranges from asymptomatic infarction to hemorrhagic complications. 3

• Other Hemoglobinopathies: While sickle cell disease is excluded, other hemoglobin variants (HbSC disease, sickle-beta thalassemia) can cause splenic infarction through similar vaso-occlusive mechanisms. 3

• Hereditary Spherocytosis: This condition, though not typically associated with thromboembolism, can cause splenic infarction particularly when combined with other prothrombotic states or acute infections like Epstein-Barr virus. 4

Cardiac Embolic Sources

• Congenital Heart Disease with Embolic Potential: Emboligenic heart disease is among the most frequent causes of splenic infarction overall. 1 In a 2-year-old, evaluate for:
  • Atrial septal defects with paradoxical embolism
  • Endocarditis (though rare at this age)
  • Cardiomyopathy with mural thrombus

Infectious Triggers

• Acute Infectious Mononucleosis (EBV): EBV infection can precipitate splenic infarction, particularly in patients with underlying hematologic abnormalities or thrombophilic conditions. 4 The combination of splenomegaly from infection plus hypercoagulability creates risk.

• Septicemia: Bacterial infections can trigger splenic infarction through septic emboli or disseminated intravascular coagulation. 5

Thrombophilic Conditions

• Inherited Thrombophilias: Protein C deficiency, protein S deficiency, Factor V Leiden, and antiphospholipid antibodies can cause splenic infarction even in young children. 6, 4

Idiopathic Cases

• No Identifiable Cause: Approximately 20% of splenic infarctions occur without an identifiable underlying etiology, even after thorough investigation. 1, 7 One case series reported massive splenic infarction in a pediatric patient with completely negative workup. 7

Essential Diagnostic Workup

Immediate Laboratory Studies

• Complete blood count with differential: Look for anemia, thrombocytosis (7% of cases), leukocytosis (49% of cases), or abnormal cell morphology suggesting leukemia or hemolytic disorders. 2, 3

• Peripheral blood smear: Essential to identify spherocytes, blast cells, or other abnormal morphology. 3

• Reticulocyte count: Elevated in hemolytic anemias. 3

• Hemoglobin electrophoresis: To exclude other hemoglobinopathies beyond sickle cell disease. 3

Thrombophilia Panel

• Protein C and S levels
• Antithrombin III
• Factor V Leiden mutation
• Prothrombin gene mutation
• Antiphospholipid antibodies 6, 4

Cardiac Evaluation

• Echocardiography to evaluate for structural heart disease, vegetations, or intracardiac thrombus 1

Infectious Workup

• EBV serology (VCA IgM, VCA IgG, EBNA)
• Blood cultures if febrile
• Consider other viral serologies based on clinical presentation 4

Critical Clinical Pitfalls

Do not assume the absence of fever rules out infection-related infarction—only 20% of patients with splenic infarction from various causes present with fever. 5

Do not rely on splenomegaly as a diagnostic indicator—clinical splenomegaly is present in only 30% of cases and is not a reliable sign. 6

Do not miss progression to abscess formation—persistent fever beyond 7-14 days, recurrent bacteremia, or enlargement of splenic defects on serial imaging indicates abscess formation requiring different management. 6, 2

Management Implications by Etiology

• If CML is diagnosed: Cytoreductive therapy can lead to successful regression of splenic infarction without surgical intervention; splenectomy should be limited to persistent symptoms with complications like hemorrhage or pseudocyst formation. 3, 6

• If hereditary spherocytosis is identified: Consider elective splenectomy after acute episode resolves, particularly if recurrent complications occur. 4

• If cardiac source identified: Anticoagulation is indicated after excluding hemorrhagic complications. 6

• If idiopathic: Conservative management with close monitoring is appropriate, as most resolve within 7-14 days without intervention. 2, 7