A 7 year-old girl was brought to hospital with sudden onset vomiting followed by lethargy and irritability. A week previously she developed chicken pox and was recovering well, having been treated with regular aspirin and paracetamol for fever and discomfort. There is no history of any other drug or toxin exposure and no family history of childhood diseases. When reviewed, she was afebrile, anicteric, drowsy and mildly dehydrated.
She has mild hepatomegaly on palpation. Relevant findings on her investigations include: Lumbar puncture — CSF essentially normal (WBC 2 x 109/L) CT head — suspicious for mild cerebral edema Metabolic screen — no evidence of any inborn error of metabolism (IEM), normal urinary copper excretion Blood tests — hyperammonaemia (NH3 210 micromol/L) and abnormal LFTs (ALT 1150 IU/L). An initial mild hypoglycemia was corrected with glucose administration What is the…
