Fatigue and bruising in a teenager

Published on 10/04/2015 by admin

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Last modified 10/04/2015

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Problem 47 Fatigue and bruising in a teenager

Charles G. Mullighan

A usually fit and active 13-year-old boy complains of gradually worsening tiredness for a month. In the last few days, he has noticed bruises, both after minor trauma and without any obvious trauma, to his arms and legs. His past medical history includes a tonsillectomy, adenoidectomy and appendicectomy. He does not take any regular medication, and denies using alcohol, over-the-counter or non-prescription drugs. He has a low-grade fever, is pale and has moderate cervical lymphadenopathy. There are multiple small to moderate bruises in dependent areas, and small haemorrhages at the bite line of the buccal mucosa. The spleen is palpable 5 cm below the left costal margin.

Q.1

What are the possible causes of this boy’s signs and symptoms? What investigations should be performed?

The following investigations become available.

Investigation 47.1 Summary of results

image

Blood film (Figure 47.1) comment:

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Figure 47.1

Macrocytic anaemia. Anisocytosis and poikilocytosis. Abnormal lymphoctes present; possibly atypical, possibly blasts.

Infectious mononucleosis screen (IM): Negative. EBV IgM: Negative.

Q.2

Interpret the blood test results. What further investigations and management should be arranged?

While awaiting transfer to the haematology ward, he develops rigors and is noted to have a temperature of 39°C.

Q.3

What investigations should be performed immediately, and what treatment would you like to start?

An urgent bone marrow aspirate is performed (Figure 47.2). Microscopic examination of the aspirate smears shows over 90% blasts, immature chromatin, few nucleoli, scant cytoplasm and few granules. Immunophenotyping of the bone marrow aspirate shows the presence of a lymphoblast populations staining for CD45, CD5, CD7, and cytoplasmic CD3, but negative for cell surface CD3, negative for the B lymphoid markers CD19 and CD79a, and negative for the granulocytic markers CD13 and CD33.

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Figure 47.2

Immunophenotyping of peripheral blood yields similar results. Subsequent examination of bone marrow trephine sections shows complete replacement with a homogeneous infiltrate of lymphoblasts.

Q.4

What is the diagnosis?

While the patient awaits further investigations, including a lumbar puncture, and prepares for initial treatment, the ward nursing staff are concerned that the he has become short of breath, with a dry cough and difficulty swallowing. You are asked to review him urgently.

Q.5

What are the possible diagnoses? What do you look for on examination and what investigations should be performed?

He is sitting on the edge of his bed with respiratory rate of 25, a peripheral oxygen saturation of 94% on air and mild facial swelling. Chest examination reveals dullness to percussion at the right lung field base, with reduced breath sounds on the right side. You repeat the chest X-ray (Figure 47.3).

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Figure 47.3

Q.6

What does the chest X-ray show, and what is the diagnosis? What additional management is appropriate?

Soon after commencing chemotherapy the patient becomes confused and is noted to have reduced urine output.

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