Article Text


Failure to thrive in a 3 month old boy
  1. D Basu1,
  2. S Ferns2,
  3. M Arun Prasad1,
  4. P Nalini2
  1. 1Jawaharlal Institute of Post Graduate Medical Education and Research, Pondicherry, India: Department of Pathology
  2. 2Department of Pediatrics
  1. Correspondence to:
 Dr Debdatta Basu, Department of Pathology, JIPMER, Pondicherry 605006, India;

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A 3 month old boy weighing 3.5 kg was admitted because of excessive bleeding from an intramuscular injection site for the past 12 hours. The mother had observed that his abdomen had been progressively distending since the first week of life and that he had had low grade fever for the past month. Recently, on receiving an intramuscular injection in the gluteal region for this fever he began to bleed uncontrollably from the site. There was no history of birth asphyxia or contact with tuberculosis.

A physical examination revealed severe pallor and massive hepatosplenomegaly and ecchymotic spots in the gluteal regions. His medical history revealed failure to thrive, repeated episodes of diarrhoea, and upper respiratory tract infections for the past month. Examination of his cardiovascular, respiratory, and neurological systems was unremarkable. A complete blood count revealed severe anaemia with a haemoglobin concentration of 60 g/l, platelet count of 25 × 109/l, total leucocyte count of 13 × 109/l, and many lymphocytes showing prominent vacuolation in the cytoplasm (fig 1). His blood was lipaemic when drawn, though investigations revealed a normal cholesterol and triglyceride fraction. Hepatic enzymes were as follows: aspartate transaminase 600 IU/l, alanine transaminase 789 IU/l, and alkaline phosphatase 1200 KA units/l. Radiography of the skull and long bones and an echocardiogram were unremarkable. An abdominal radiograph (fig 2), an ultrasound of abdomen (fig 3), and a bone marrow aspiration (fig 4) were requested.

Figure 1

Peripheral smear showing vacuolated lymphocytes (Leishman’s stain × 1000).

Figure 2

Radiograph of the chest and abdomen showing bilaterally symmetrical and enlarged adrenals with stippled calcification.

Figure 3

Ultrasound of the abdomen showing calcification in the region of the adrenals.

Figure 4

Bone marrow aspiration showing a large population of macrophages with vacuolated cytoplasm (Leishman’s stain × 1000).


  1. What are the radiological findings and findings on peripheral smear and bone marrow?

  2. What is the diagnosis? What are the possible differential diagnoses?

  3. What is the prognosis and treatment of this condition?

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