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Postgrad Med J 2001;77:537 ( August )

Self assessment answers

Generalised oedema, lethargy, personality disturbance, and recurring nightmares in a young girl

The first 150 words of the full text of this article appear below.
Q1: What is the likely diagnosis?

The low serum copper and caeruloplasmin concentrations, in the setting of abnormal liver function, hyponatraemia, and profound clotting disturbance point to a diagnosis of Wilson's disease with hepatic failure. In this case, hepatic involvement predominates despite background lethargy, personality change, and depression. The prominent abdominal veins, fluid retention, and ascites are the clinical manifestations of portal hypertension and decompensated liver disease, with poor synthetic function evidenced by a low serum albumin and greatly increased prothrombin time.

Her shortness of breath was secondary to abdominal distention and diaphragmatic splinting due to ascites. A polyclonal immunoglobulin rise is often seen in Wilson's disease and a raised serum B12, which is stored in the liver, is associated with hepatic necrosis.

Q2: What further investigations would confirm the diagnosis?

Classically, serum caeruloplasmin concentrations are very low in parallel with low serum copper levels. Though serum caeruloplasmin estimation alone . . . [Full text of this article]







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