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Answers on p 548.
A 16 year old girl, previously healthy, presented with a four day history of 39°C fever with chills, loss of appetite, and fatigue. During the past 24 hours, she had dark urine and became progressively jaundiced. She had never smoked or drunk alcohol and took no medications or illicit drugs. Her parents and sibling were in good health.
On examination she was alert but weak, with a presenting fever 39°C, blood pressure of 100/75 mm Hg, tachycardia (108 beats/min), and tachypnoea (26 breaths/min). The patient was obviously jaundiced and small, painless, tracheal lymph nodes were palpable. The liver was slightly enlarged and the spleen just palpable. There were no signs of chronic liver disease and a split lamp examination for Kayser-Fleischer rings gave negative results. Pregnancy was excluded.
Laboratory testing showed a haemoglobin concentration of 116 g/l (mean corpuscular volume 96.3 fl), leucocytes 13.6 × 109/l with 34% neutrophils, 47% lymphocytes (10% atypical lymphocytes), 2% bands, and 5% monocytes, and platelets 170 × 109/l. The erythrocyte sedimentation rate was 91 mm/hour and the C-reactive protein was negative. The bilirubin was 32.4 mg/dl (554 μmol/l), direct bilirubin 21.8 mg/dl (373 μmol/l), alanine aminotransferase 305 IU/l, aspartate aminotransferase 178 IU/l, alkaline phosphatase 178 IU/l (normal value 20–130), γ-glutamyltransferase 110 IU/l (normal value 10–75), and lactate dehydrogenase 1225 IU/l. Serum albumin was 38 g/l and globulins 39 g/l. Protein electrophoresis revealed 47.3% albumins, 2.4% α1-globulins, 11.0% α2-globulins, 12.6% β-globulins, and 23.4% γ-globulins. The immunoelectrophoresis showed: IgG 13.4 g/l (normal value 6.9–16.2) IgA 2.75 g/l (0.68–3.80), and IgM 2.94 g/l (0.60–2.63). The prothrombin time, partial thromboplastin time, and the fibrinogen level were normal with negative fibrinogen degradation products. Serological tests for HIV, cytomegalovirus, and hepatitis viruses A, B, and C were negative. The rapid latex agglutination test for heterophil antibodies was negative. Autoantibodies (antinuclear, antimitochondrial, smooth muscle, antiliver-kidney microsomal, p-antineutrophil cytoplasmic) were not detected and the serum complement level was within normal limits. The blood ceruloplasmin and copper levels was normal and the urinary copper was not increased.
Chest radiography and electrocardiography were normal. The abdominal ultrasound showed hepatomegaly, no dilated bile ducts, and the spleen had a span of 12.4 cm.
On the third hospital day, her general condition markedly deteriorated and a rapid fall in haemoglobin to 63 g/l with a reticulocyte count of 2.5% were found. The jaundice deepened, with an elevation in total bilirubin up to 48.1 mg/dl (833 μmol/l) and direct bilirubin 30.8 mg/dl (526 μmol/l). The lactate dehydrogenase further increased. The Coombs test was negative.
What is the main differential diagnosis of this patient’s initial syndrome?
What is the laboratory test of choice you would perform on the third hospital day?
What is the final diagnosis and the treatment of choice in this case?
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