Case Studies

Case 12: A 7-year-old girl with tiredness and bone pain

A 7-year-old girl presents with a 1-week history of tiredness. She is also complaining of severe pain in the upper part of both legs. Her parents report that she was perfectly well until 2–3 weeks ago but has become gradually pale and has developed bruises over her legs. She has not had any serious illnesses in the past.
On examination she is in pain. She is pale and has palpably enlarged lymph nodes in the neck and axillae. There are multiple bruises on her legs.
Investigations show:
Hb 66 g/L
WBC 75 × 10⁹/L
Platelets 42 × 10⁹/L
Her blood film is illustrated.

• (a) What abnormalities are shown in the blood film?

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  Correct answer: The blood film shows the presence of undifferentiated leukaemic blast cells.

• (b) What is the likely diagnosis?

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  Correct answer: Acute leukaemia. The most common type at this age is acute lymphoblastic leukaemia.

• (c) What further tests are indicated?

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  Correct answer: She should be referred urgently for full evaluation and treatment at a specialist centre. Bone marrow examination should be undertaken and the leukaemic cells should be accurately classified by flow cytometry and molecular analysis. Cytogenetic analysis is indicated.

• (d) How is this condition classified?

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  Correct answer: Classification and further investigations are discussed in Chapter 22.

• (e) What complications can occur?

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  Correct answer: Leukaemic cells can infiltrate virtually any tissue. Central nervous system involvement is particularly common in ALL and prophylactic treatment with instillation of chemotherapy by lumbar puncture should be undertaken.

• (f) What is the prognosis?

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  Correct answer: Treatment and prognosis are discussed in Chapter 23.