Investigation | Result |
---|---|
Full blood count | Normal, except thrombocytopenia |
Liver function tests | Normal |
Urea and electrolytes | Normal |
Copper studies | Normal serum copper and caeruloplasmin Non-caeruloplasmin-associated copper 17 μg/dL (raised; target <10) |
Serum creatine kinase | Normal |
Amino acid analysis | Slightly raised tyrosine, indicative of possible liver involvement |
12-Lead ECG | Normal |
EEG | Normal |
MR scan of brain | Altered signal in basal ganglia, pons and dorsal midbrain |