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]