Classic neuroimaging, the bird's eye view in Wilson's disease.

To cite: Panda AK. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013200701 DESCRIPTION Wilson’s disease (WD) is an inborn error of copper metabolism with an autosomal recessive pattern of inheritance. It is caused by ATP7B mutation leading to abnormal accumulation of copper in various tissues, particularly the liver and the brain. MRI abnormalities occur in virtually 100% of patients with neurological dysfunction. The classical MRI findings include the face of a giant panda sign, the face of a miniature panda sign and bright claustrum signs. This case illustrates a 16-year-old boy born of non-consanguinity with normal birth and development studying in the seventh standard presented with progressive neurological illness in the form of generalised dystonia involving all four limbs and a face with fixed vacant smile (risus sardonicus) for past 2 years. He had rest as well as kinetic limb tremor and cognitive impairment predominantly affecting executive function and memory with positive family history of (elder brother of age 18 year) WD. Laboratory investigation revealed the following: serum copper level of 60 mg/dL (N 85– 150 mg/dL), serum ceruloplasmin level of 6.0 mg/ dL (N 15–60 mg/dL), 24 h urinary copper, that is, 170 mg/day (normal 50–70 mg/day) with normal liver function test. Other routine blood investigations were non-contributory. Ultrasonogram of abdomen was normal except mild coarse echo texture of liver. Ophthalmological examination showed a thin rim of golden brown-coloured Kayser-Fleischer rings in the bilateral peripheral cornea (figure 1). An MRI of the brain with fluid-attenuated inversion recovery sequence showed the face of a giant panda sign, that is, hyperintensity in the midbrain tegmentum with normally hypointense red nucleus (eyes), preservation of signal intensity of the pars reticulate of the substantia nigra (ears), low signal intensity of the superior colliculous (chin) (figure 2). There is a thin rim of the T2 hyperintense lesion seen in the claustrum known as the bright claustrum sign (figure 3). The pontine section also revealed the face of a miniature panda sign where hypointensity of medial longitudinal fasciculus and central tegmental tract forming the eyes, hyperintensity of