Causes of splenomegaly in children

• History and physical examination
• Complete blood count including platelet count and differential
• Reticulocyte count
• Review of the peripheral blood smear
• Liver function tests
• EBV and CMV serologies
• Chest radiograph
• Abdominal ultrasound

In most cases, a likely diagnosis (or diagnostic category) can be arrived at based upon the findings of these tests. Additional testing may be needed to establish the specific diagnosis.

• Fever, pharyngitis, fatigue, and lymphadenopathy
• Lymphocytosis and atypical lymphocytes on peripheral blood smear

• Diagnosis is made with EBV and CMV serologies and/or heterophile antibody testing

• Tuberculosis
• Infective endocarditis
• Malaria
• HIV
• Cat scratch disease
• Babesiosis

• Persistent fevers, weight loss, malaise, lymphadenopathy
• Travel to an endemic region (malaria, tuberculosis, babesiosis)
• HIV risk factors (unprotected sex, IV drug use)
• Cat scratch (Bartonella)
• Tick bite (babesiosis)

• Testing is guided by clinical findings and may include:
  • TST to evaluate for TB
  • Serial blood cultures to evaluate for IE
  • Malaria blood smear (if relevant exposure)
  • HIV testing (if there are relevant risk factors)
  • Bartonella titers (if relevant exposure)
  • Blood smear and/or PCR for babesiosis (if relevant exposure)

• Acute lymphoblastic leukemia
• Acute myelogenous leukemia

• Persistent fevers, anorexia, weight loss, decreased activity level, bone pain, and/or easy bruising
• Cytopenias (neutropenia, anemia, and/or thrombocytopenia)
• Abnormal immature cells (blasts) in the peripheral blood

• Bone marrow aspiration/biopsy

• Lymphoma
• Langerhans cell histiocytosis
• Hematophagocytic lymphohistiocytosis
• Autoimmune lymphoproliferative syndrome
• Castleman disease and POEMS syndrome

• Lymphadenopathy (particularly if lymph nodes are massively enlarged and/or rapidly increasing in size)
• Chest radiograph findings of hilar adenopathy or mediastinal mass

• Contrast-enhanced CT of the chest and abdomen
• Lymph node biopsy
• Bone marrow biopsy

• RBC membrane defects
• RBC enzyme defects
• Hemoglobinopathies
• Autoimmune hemolytic anemia
• Other acquired hemolytic anemias

• Low hemoglobin, unconjugated hyperbilirubinemia, and reticulocytosis
• Clues on the peripheral blood smear include polychromasia and spherocytes
• Certain congenial RBC disorders may have specific findings on the blood smear (eg, elliptocytes, xerocytes, sickle cells)

• Serum markers of hemolysis (LDH, free hemoglobin, haptoglobin)
• Testing for specific causes of hemolytic anemia

• Biliary atresia
• Viral hepatitis
• Wilson disease
• Other metabolic liver disease (eg, galactosemia)
• Primary sclerosing cholangitis
• Alpha-1-antitrypsin deficiency
• Alagille syndrome
• Cystic fibrosis

• Jaundice, hepatomegaly, firm liver edge, ascites, and/or spider angiomata
• Abnormal liver function tests
• Abnormal findings on abdominal imaging (eg, focal or diffuse liver abnormalities; slow or reversed portal blood flow suggestive of portal hypertension)

• Testing for specific causes of pediatric liver disease
• Liver biopsy may be warranted in some cases

• Patients may have abdominal pain or may be asymptomatic
• Underlying risk factor for thrombosis (eg, invasive catheter [UVC], liver disease, malignancy, inherited thrombophilia, antiphospholipid antibodies)
• Abnormal abdominal ultrasound (ie, filling defect or absence of flow Doppler images)

• Diagnosis is made with Doppler ultrasound
• Additional evaluation may be warranted to determine cause of thrombus

• SLE
• JIA

• Rashes and/or joint swelling
• Laboratory findings include nonspecific markers of inflammation (eg, leukocytosis, elevated ESR or CRP)

• Antinuclear antibody titers are obtained as a screening test
• Further evaluation is based on the clinical findings

• Common variable immunodeficiency

• History of recurrent infections and/or failure to thrive
• Lymphopenia may be noted on CBC

• Diagnosis is based on immunoglobulin levels and antibody function studies (ie, vaccine response)

• Gaucher disease
• Niemann-Pick disease
• Mucopolysaccharidoses
• Other lysosomal diseases

• Other organ involvement (eg, hepatomegaly, skeletal abnormalities, neurologic involvement)
• Plain radiographs may show bone abnormalities
• Focal splenic masses may be noted on abdominal ultrasound

• Diagnosis is confirmed by testing for specific enzyme deficiencies and/or genetic mutations

• Hemangioma
• Hamartoma
• Cysts
• Intracapsular hematoma (trauma)

• Hemangiomas:
  • Skin hemangiomas may be noted
• Cysts and hamartomas:
  • Most are asymptomatic
  • May be noted as incidental findings on abdominal imaging studies obtained for other reasons
• Intracapsular hematoma:
  • In most cases, there is a clear preceding history of substantial blunt abdominal trauma
  • Relatively minor trauma can cause splenic rupture in children with underlying splenomegaly due to another etiology (eg, mononucleosis)

• Additional imaging studies (eg, CT or MRI) may be warranted
• Diagnosis is based on imaging findings