Pediatric Splenomegaly Clinical Presentation

Despite the extensive differential diagnoses of splenomegaly, careful history taking and physical examination, along with a CBC count and liver function tests, often help in narrowing the list of possible causes. The history should include attention to the following important areas, as listed below.^[16]

• Chief symptoms

  • Acute or chronic nature
  • Painful or asymptomatic manifestation
  • Ingestion of hepatotoxic agents resulting in hepatitis or portal hypertension
  • Abdominal trauma that may cause splenic hematoma
  • Acute illness such as hepatitis, mononucleosis, or malaria
  • Diarrhea (eg, salmonellosis, inflammatory bowel disease)
  • Bone pain, fever, malaise, lethargy, or bruising (eg, associated with leukemia)
  • Weight loss, fevers, night sweats (eg, associated with Hodgkin disease)
  • Jaundice
• Medical history

  • Complicated neonatal period (eg, sepsis, hypotension)
  • Umbilical catheter thrombosis
  • Hyperbilirubinemia, anemia (eg, due to hereditary spherocytosis or hemolysis)
  • Heart disease (eg, congestive heart failure)
  • Past surgeries (eg, leading to infection, thrombosis, portal hypertension)
  • Transfusions (eg, resulting in hepatitis)
  • Hepatitis
  • Abdominal trauma (possibly resulting in splenic pseudocyst)
  • Travel (possible presence of malaria, leishmaniasis, schistosomiasis, or trypanosomiasis)
  • Sexual behavior (possible presence of hepatitis, cytomegalovirus [CMV], or human immunodeficiency virus [HIV])
  • Known blood disorder (eg, sickle cell disease, hereditary spherocytosis)
• Family history

  • Anemia, cholecystectomy (eg, due to hemolytic anemia–associated gallstones)
  • Splenectomy (eg, due to hemolytic anemia)
  • Mediterranean ethnicity (increased incidence of thalassemia and glucose-6-phosphate dehydrogenase [G6PD] deficiency)
  • African ethnicity (increased incidence of sickle cell anemia, G6PD deficiency, and hereditary pyropoikilocytosis)
  • Ashkenazi Jewish ethnicity (increased incidence of Gaucher disease and Niemann-Pick disease)
  • Northern European ethnicity (increased incidence of pyruvate kinase deficiency and hereditary spherocytosis)
  • Asian ethnicity (increased incidence of G6PD)
  • South Asian ethnicity (increased incidence of portal hypertension secondary to noncirrhotic portal fibrosis)

The patient should be examined in the supine or right lateral decubitus position. The spleen is best palpated with the clinician kneeling on the patient's right side and by palpating the left upper quadrant of the abdomen with the right hand.

Palpation should start just above the pubis and move toward the left upper quadrant to find the medial border of the spleen. The examiner usually palpates the spleen by feeling its inferolateral margins. If the enlarged tip of the spleen is below the examiner's hands, he or she often misses it. Likewise, light pressure should be used with small children, because the spleen can easily be pushed out of the way without the clinician feeling its edge. At times, the superior medial edge of the spleen is more readily palpated than the inferior margin.

Percussion over the left lateral areas of the lower ribs may reveal splenomegaly that is not evident upon palpation.^{[17, 18, 19]} This procedure is particularly helpful in a crying child in whom splenic palpation is difficult. It is similarly helpful in children and adolescents who are obese. A normal-sized liver and spleen may also become palpable if pulmonary pathology is causing hyperinflation of the lungs (pseudosplenomegaly). The spleen is occasionally confused with the left lobe of the liver or with a tumor in the left upper quadrant (eg, Wilms tumor, neuroblastoma). The characteristic downward movement of the spleen with inspiration and its relatively flat surface and shape can help in differentiating it from other masses of the left upper quadrant. Important features on physical examination are as follows:^[16]

• General findings - Failure to thrive, ill-appearing (eg, in the presence of malignancy, chronic hemolysis, chronic infection, metabolic disease, liver disease, or inflammatory disease)
• Dermal findings

  • Pallor (eg, due to anemia, which may indicate hemolysis, bone marrow infiltration, or hypersplenism)
  • Petechiae, purpura (eg, due to thrombocytopenia, which may indicate bone marrow failure, autoimmune disorder, or hypersplenism)
  • Jaundice (eg, due to hemolytic anemia or liver disease)
  • Itching, pruritus (eg, due to liver dysfunction, Hodgkin lymphoma)
  • Rashes (eg, due to acute and chronic infections, systemic lupus erythematosus, rheumatoid arthritis, infective endocarditis, histiocytoses, or hemangiomata)
  • Eczematous rash (eg, due to Langerhans cell histiocytosis or immunodeficiency)
• Head, eyes, ears, nose, and throat findings

  • Icterus (eg, due to hemolytic anemia or liver dysfunction)
  • Cherry red retinal spots, cloudy corneas (eg, due to lipid storage diseases)
• Respiratory and cardiovascular findings

  • Dyspnea, fatigue (eg, due to anemia or congestive heart failure)
  • New murmur (eg, due to infective endocarditis)
• GI findings

  • Abdominal tenderness (eg, due to gallstones, hepatitis, trauma, or acute splenomegaly)
  • Distention, prominent abdominal veins, ascites (eg, due to liver disease)
  • Enlarged liver with a firm, knobby texture
• Musculoskeletal findings

  • Joint pain (eg, due to systemic lupus erythematosus, rheumatoid arthritis, or autoimmune inflammatory diseases)
  • Poor bone growth (eg, due to storage diseases or osteopetrosis)
  • Bone pain (eg, due to leukemia or Gaucher disease)
• Neurologic findings

  • Poor vision (eg, due to osteopetrosis)
  • Uveitis, iritis (eg, due to sarcoidosis or rheumatoid arthritis)
  • Loss of developmental milestones (eg, due to storage diseases, chronic infection, or immunodeficiency)

Despite the numerous causes of splenomegaly (see Differentials), the spleen is rarely the primary site of disease.

• The most common mechanism of splenomegaly in children is hyperplasia of the MPS, which can be categorized as excessive antigenic stimulation (ie, infection), disorders of immunoregulation (ie, autoimmune disorders), or excessive destruction of abnormal blood cells (ie, hemolysis).^{[3, 20]}

  • Excessive antigenic stimulation due to infection is the cause of most cases of splenomegaly in children. Viral infections are the most frequent culprits, and the associated splenomegaly is usually transient and only mild to moderate in severity. Although Epstein-Barr virus (EBV) and CMV are well known causes of splenomegaly, the most typical viral illnesses of childhood are the most frequent causes.
  • Other common infectious etiologies include bacterial, protozoal, and fungal infections. In endemic areas, malaria and schistosomiasis are routine causes of splenomegaly. Concomitant generalized lymphadenopathy is common in many of these infectious etiologies.
  • Inflammation due to collagen vascular diseases, such as juvenile rheumatoid arthritis, and increased destruction of blood cells from hemolytic anemias are relatively uncommon, but clinically significant, causes of splenomegaly.
  • Splenomegaly can be a presenting sign of neoplasia. One half of children with acute lymphoblastic leukemia have splenomegaly. Splenomegaly is also a frequent finding in non-Hodgkin lymphoma, Hodgkin disease, and acute or chronic myeloblastic leukemia. Metastatic involvement of the spleen, which is uncommon in children, is most often caused by neuroblastoma. Histiocytes can infiltrate the spleen; Langerhans cell histiocytosis and other rare histiocytic disorders are usually the cause of this condition.
  • Obstructed venous blood flow of intrahepatic or extrahepatic etiology can cause splenomegaly. The most common causes include portal vein thrombosis, hepatic cirrhosis, and congestive heart failure. Children with extrahepatic portal venous obstruction, such as cavernous transformation, often present with splenomegaly as the primary manifestation of their disease.
  • Many storage diseases result in splenomegaly. In Gaucher or Niemann-Pick disease, splenomegaly is often the first clinical manifestation. Splenomegaly is the result of the accumulation of abnormal lipids in splenic macrophages.
  • After trauma, palpable subcapsular hematomas may develop in the spleen, which may eventually develop into clinically palpable pseudocysts. Patients with congenital splenic cysts usually present with asymptomatic splenomegaly.
  • Although normally found only during the first 6 months of life, extramedullary hematopoiesis may occur in diseases associated with intense demand on the bone marrow for cell production. Thalassemia major, osteopetrosis, and idiopathic myelofibrosis are examples of this rare cause of splenomegaly.
• Hypersplenism is a clinical syndrome in which cytopenias result from excessive splenic function, which occurs as the spleen and its MPS tissues hypertrophy. The pathologic action of the spleen, ie, the reduction of circulating blood elements, has been attributed to 4 possible mechanisms: excessive splenic phagocytic activity, splenic production of an antibody that results in the destruction of hematopoietic cells, overactivity of splenic function, and sequestration.^[21] In patients with cirrhosis, abnormalities of cytokine production may contribute to the cytopenias noted.^[14]

  • As the spleen enlarges, it can sequester erythrocytes, leukocytes, and platelets, resulting in mild-to-moderate decreases in some or all of these cell lines. Severe reductions in cell counts are unusual and should prompt a search for alternative etiologies.
  • Venous obstruction is the most common cause of hypersplenism. Any increase in portal pressure is reflected in the splenic venous sinuses. This impairs blood flow out of the cords and results in the sequestration of blood cells and hypersplenism. Hypersplenism in children is most frequently caused by portal hypertension. Extrahepatic venous obstruction from portal vein thrombosis is the most common cause of increased portal pressures. In extrahepatic venous obstruction, hepatic function is normal. Intrahepatic venous obstruction is usually due to cirrhosis.
  • Portal hypertension usually increases flow through minor collateral vessels between the portal circulation and the systemic circulation. Portal hypertension can result in recognizable dilatation of the superficial abdominal veins and esophageal varices. Patients with these varices may present with sudden and catastrophic GI hemorrhage.
• Splenic sequestration crisis is a specific form of acute hypersplenism in young children with sickle cell anemia.^[21]

  • Children less than 6 years old can develop rapid splenic sequestration and splenomegaly with the consumption of large volumes of erythrocytes. They present with sudden weakness, dyspnea, and left-sided abdominal pain in addition to splenomegaly.
  • Splenic sequestration is an emergency. Rapid death from hypovolemic shock can result.
  • Treatment consists of fluids and erythrocyte transfusions. To prevent recurrences, splenectomy may be indicated. In most patients with sickle cell disease, the spleen eventually involutes, and sequestration is no longer possible.