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Generalised oedema, lethargy, personality disturbance, and recurring nightmares in a young girl
  1. N D Hawkesa,
  2. D Mutimerb,
  3. G A O Thomasa
  1. aDepartment of Gastroenterology, University Hospital of Wales, Cardiff, UK, bLiver Unit, Queen Elizabeth Hospital, Birmingham, UK
  1. Dr Neil Hawkes, Department of Gastroenterology, Ward A7, University Hospital of Wales, Heath Park, Cardiff CF14 4XN, UKneilhawkes{at}

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A 17 year old girl presented with a six week history of loose, yellow motions, marked leg swelling, increased shortness of breath, lethargy, and decreased exercise tolerance. She had gained 10 kg in weight in four months. Her mother commented that over the past nine months she had been somewhat depressed and withdrawn and had suffered from recurring nightmares.

Six weeks before admission, she had complained of left sided abdominal discomfort, polyuria, and haematuria and was given a one week course of co-amoxyclav. She had been otherwise fit and well. She was taking no regular medication apart from an oral contraceptive pill which had been started two years previously. She was a non-smoker and drank little alcohol.

Examination revealed generalised swelling, with marked bilateral leg oedema. Cardiovascular, respiratory, and neurological examination were unremarkable. The abdominal veins were prominent and striae were present over the lower abdomen, although she was not jaundiced and there were no other stigmata of chronic liver disease. Shifting dullness was present but no organomegaly or abdominal masses were demonstrated.

Initially, a clinical diagnosis of nephrotic syndrome was considered prompting transfer to the renal unit. Subsequently, this was excluded by a normal 24 hour urine collection for proteinuria. The results of her other screening investigations are shown in box 1.


What is the likely diagnosis?
What further investigations would confirm the diagnosis?
What treatment options might you consider and how would you manage this young girl?

Box 1: Screening investigations

  • Full blood count: haemoglobin 106 g/l, leucocyte count 12.0 × 109/l, platelets 92 × 109/l.

  • Urea and electrolytes: sodium 130 mmol/l, potassium 2.4 mmol/l, urea 3.1 mmol/l, creatinine 76 μmol/l.

  • Erythrocyte sedimentation rate and C reactive protein: normal.

  • Liver function tests: albumin 20 g/l, bilirubin 51 μmol/l, alkaline phosphatase 208 IU/l, aspartate aminotransferase 131 IU/l.

  • Prothrombin time: 45.2 sec.

  • Kaolin cephalin clotting time: 99.7 sec (control 39).

  • Serum immunoglobulins: polyclonal IgG rise.

  • Autoantibody profile: weakly positive smooth muscle antibody (1:10); antinuclear and antimitochondrial antibodies negative.

  • Serum α-fetoprotein and α1-antitrypsin levels normal.

  • Serum B12 1668 ng/l (120–600).

  • Serum folate 7.2 μg/l (1.6–6.0).

  • Serum ferritin 281 μg/l.

  • Serum copper 0.3 mg/l (0.7–1.6).

  • Serum caeruloplasmin 0.06 g/l (0.2–0.45).

  • Stool, urine, and ascitic fluid culture: normal.

  • Viral titres and hepatitis serology: negative.

  • Ascitic fluid: protein 1.2 g/l, glucose 5.4 mmol/l, leucocytes <100/mm3.

  • Abdominal ultrasound: normal liver, spleen, pancreas, and kidneys. Gross ascites and a few dilated, fluid filled bowel loops. Doppler studies indicate normal flow through portal veins. No evidence of Budd-Chiari syndrome.

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