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  1. Annu Aggarwal, research fellow in cognitive and behavioural neurology1,
  2. Mohit Bhatt, movement disorders specialist2
  1. 1Department of Neurology, Royal Adelaide Hospital and University Department of Medicine, University of Adelaide, Adelaide, SA 5000, Australia
  2. 2Department of Neurology, Jaslok Hospital and Research Centre, and Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai 400053, India
  1. Correspondence to: M Bhatt drmbhatt{at}gmail.com

    An 18 year old man presented after developing progressive dysarthria and abnormal limb postures. From the age of 15 he had been increasingly irritable, belligerent, and difficult to discipline. He played truant from school, wandered aimlessly around the city claiming to be a dynamic entrepreneur, and heard voices plotting against him. Examination revealed psychosis, severe dysarthria, and generalised dystonia with prominent oromandibular involvement. A diagnostic eye sign was noted (fig 1⇓). Treatment for 18 months led to considerable clinical improvement and regression of the abnormality in the eye.

    Fig 1 Diagnostic eye sign

    Questions

    • 1 What is the eye sign shown?

    • 2 What clinical features and investigations can support the diagnosis?

    • 3 How can it be treated and what is the prognosis?

    Answers

    Short answers

    • 1 The eye sign shown is Kayser-Fleischer rings—greenish discoloration at the outer corneal circumference (fig 2⇓). This abnormality was named after ophthalmologists Bernhard Kayser and Bruno Fleischer, who described the sign independently in the early 1900s. The rings were later recognised to be copper deposits and diagnostic of Wilson’s disease.

    Fig 2 Kayser-Fleischer rings, visible as a greenish ring at the outer corneal surface (arrow)

    • 2 The combination of psychosis, extrapyramidal features (dystonia), and Kayser-Fleisher rings is classic for Wilson’s disease. A positive family history, low serum ceruloplasmin, high 24 hour urinary copper excretion, high liver copper, and the results of brain magnetic resonance imaging will support the diagnosis.

    • 3 Untreated Wilson’s disease is fatal. Early …

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