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Enlarged liver, spleen and anemia in children: differential diagnosis

"Curiosity is a willing, a proud and eager confession of ignorance"


Following are few causes of enlarged liver and spleen with anemia:


Hepatosplenomegaly (HSM) with Anemia

Etiology

Pointers

Investigation

Chronic Malaria

  • High fever +- chills/rigor

  • endemic region


  • Malaria QBC test

Kala-azar

  • fever

  • jaundice

  • skin discoloration 

  • RK-39 antigen test

  • PCR testing

  • Bone marrow


TORCH

  • microcephaly

  • cataract, retinitis

  • deafness

  • heart defect

  • TORCH screen

Leukemia

  • short history compared to hemolytic anemia

  • Sick child

  • Severe pallor

  • Hx of bleeding manifestations

  • Generalised lymphadenopathy

  • Bone tenderness

  • Proptosis dt chloroma

  • gum hypertrophy

  • Mediastinal syndrome

  • Peripheral smear

Hemolytic anemia:

Thalassemia major

Sickle cell anemia

G6PD deficiency

Hereditary spherocytosis

  • Consanguinity (Thal and SCA)

  • Hx of blood transfusion 

  • Hx of aplastic crisis or vaso-occlusive crisis

  • No bleeding manifestations

  • Cooliey’s facies

  • Short stature

  • mild unconjugated hyperbil

  • Peripheral smear:normoblast, microcytic hypochromic, target cells, sickle cells


  • Retic count: increased except aplastic crisis/ thal major dt ineffective erythropoiesis


  • Hb electrophoresis

Osteopetrosis congenita

  • Consanguinity

  • Sib death (dt anemia or bleeding)

  • Blindness

  • Deafness

  • Dysmorphism: depressed nasal bridge

  • Generalised lymphadenopathy



  • X-ray long bone: marble bone appearance and  fracture


  • X-ray skull: increased density of basal bones

Letterer-Siwe syndrome

  • Persistent ear discharge

  • excessive seborrhoeic dermatitis

  • purpuric lesions


  • X-ray skull: lytic lesions

  • Bone marrow

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