Clinical presentations of Wilson disease

Abstract

The main presenting features of Wilson disease, many of which mimic common hepatic and neurologic disorders, are discussed. There is a need for specialists in these and related fields to be aware of hints from within and, more importantly, outside their area of expertise that should alert them to consider the diagnosis. Delayed diagnosis and treatment are potentially damaging for the patient. The importance of recognising and promptly investigating Wilson disease at the initial presentation should be understood by all those who assess patients with hepatic or neurologic disorders and/or train others in their specialty.

Keywords: Copper; Wilson disease (WD); Wilson’s disease (WD); lenticular degeneration; metabolic diseases.

Figure 1

Kayser-Fleischer (KF) ring. (A) A circumferential ring of discoloration can be seen at the periphery of the cornea due to the deposition of copper in Descemet’s membrane. (B) The same area is seen at higher magnification using a slit lamp. This shows that the abnormality lies at the level of the cornea, as opposed to the iris. Photographs courtesy of Mr. Fion Bremner, Consultant Neuro-ophthalmologist.