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Question

A mother brings her 2-year old boy with short history of pallor. Examination reveals pallor, petechiae and splenomegaly. Which of the following is the most likely diagnosis ?

The correct answer is
Acute leukaemia

Clinical Presentation Analysis

The patient is a 2-year-old boy presenting with a short history of:

  • Pallor: Suggests anaemia (low red blood cells).
  • Petechiae: Indicates low platelet count (thrombocytopenia), leading to bleeding under the skin.
  • Splenomegaly: An enlarged spleen, often associated with blood disorders, infections, or malignancies.

The acute onset and combination of these symptoms point towards a significant underlying haematological issue.

Differential Diagnosis Evaluation

Acute Leukaemia

Acute leukaemia is a common childhood malignancy. It arises from immature white blood cells (blasts) that proliferate uncontrollably in the bone marrow. This crowds out normal blood cell production, leading to:

  • Anaemia: Causes pallor and fatigue.
  • Thrombocytopenia: Causes petechiae and bruising.
  • Neutropenia: Increases susceptibility to infections (though not explicitly stated here).

Splenomegaly and hepatomegaly are also common findings. The acute presentation fits well with this diagnosis.

Thalassaemia

Thalassaemia is a genetic anaemia. While severe forms (thalassaemia major) cause profound pallor and splenomegaly, they typically present later in infancy, and petechiae are not a primary feature unless related to complications or severe anaemia.

Hodgkin's Lymphoma

Hodgkin's lymphoma is less common in 2-year-olds. While it can cause splenomegaly and sometimes anaemia due to bone marrow involvement, it usually presents with lymphadenopathy, and petechiae are less common.

Idiopathic Thrombocytopenic Purpura (ITP)

ITP is characterized by isolated low platelets, causing petechiae and bleeding. Pallor would only occur due to significant blood loss, and splenomegaly is typically mild or absent. It does not explain the combination of anaemia and splenomegaly as effectively.

Conclusion

Given the acute onset of pallor, petechiae, and splenomegaly in a young child, Acute leukaemia is the most likely diagnosis as it encompasses all these key clinical findings due to bone marrow failure.

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Important Questions from Leukemia

  1. The Rai staging system and Binet staging system are the two widely used staging systems used for staging which of the following hematological malignancies?
  2. The BCR-ABL1 oncoprotein exhibits constitutive activity of which one of the following enzymes?
  3. Imatinib, Dasatinib, Nilotinib and Ponatinib are examples of which class of drugs?
  4. Which one of the following is a clonal haematopoietic stem cell disorder in which phenotypically normal red blood cells, granulocytes and platelets accumulate in the absence of a recognizable physiological stimulus?
  5. Which one of the following combinations of drugs can be used for treatment of relapsed myeloma ?
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