Palpable hepatomegaly and splenomegaly in the newborn

Specialty: Pediatrics.

• Neonatal hepatosplenomegaly
• abdominal visceromegaly in the newborn

Why it occurs

• Congenital infections of the TORCH group (Cytomegalovirus, Toxoplasmosis, Congenital Syphilis, Rubella or Herpes Simplex that invade the liver parenchyma and the splenic mononuclear phagocytic system causing inflammation and extramedullary hematopoiesis)
• Blood group or Rh incompatibility (severe autoimmune hemolysis that overloads the spleen with erythrocyte destruction and stimulates hepatosplenic extramedullary hematopoiesis)
• Metabolic lysosomal storage diseases (Gaucher disease type II, Niemann-Pick disease type A, Mucopolysaccharidosis with accumulation of undegraded metabolites in Kupffer cells and macrophages)
• Congenital leukemia or transient myeloproliferative disorders (especially in newborns with Down syndrome, with diffuse myeloid infiltration of the viscera)
• Idiopathic neonatal hepatitis or cholestasis due to biliary atresia (with initial hepatic congestion and fibrosis associated with portal congestive splenomegaly).

Initial workup

Immediate complete general analysis: complete blood count, peripheral blood smear (to assess erythroblastic forms, schistocytes, blasts or lymphocytic vacuoles), reticulocyte count, direct Coombs test, complete liver profile (transaminases, GGT, total and fractionated bilirubin), prothrombin time (PT/INR) and fibrinogen levels. Maternal and newborn serologies for TORCH (IgM antibodies, PCR in blood and urine for CMV). Abdominal Doppler ultrasound (to evaluate the echogenicity of the liver parenchyma, rule out cysts or masses and assess flow in the portal and splenic vein). Expanded neonatal metabolic screening and determination of lysosomal enzymes in leukocytes.

Standard management

• Treatment is strictly etiological according to the confirmed cause. Nonspecific intravenous immunoglobulin — indicated in Rh or group incompatibility with severe hemolysis to block splenic destruction; dose of 0.5 to 1 g/kg IV to be administered over 2-4 hours
• Ganciclovir or Valganciclovir — specific antivirals indicated in symptomatic congenital Cytomegalovirus infection with involvement of the central or visceral nervous system; ganciclovir dose of 6 mg/kg every 12 hours IV; valganciclovir dose of 16 mg/kg every 12 hours orally for 6 months
• Empirical broad-spectrum antibiotic therapy (Ampicillin plus Gentamicin) if there is suspicion of associated neonatal sepsis.