Wilson’s disease presenting as osmotic demyelination syndrome

A 12-year-old girl from a poor socio-economic background presented in the emergency department in a minimally conscious state for 2 days. She was taking complementary and alternative medicines for 2 years because of behavioural and psychiatric issues. On examination, there was diffuse rigidity in all limbs. Liver function tests were deranged,with bilirubin of 3 mg/dl and alanine aminotransferase of 80 IU/dl. Serum electrolytes were normal. MRI of the brain (Fig. 1) showed typical features of osmotic demyelination syndrome (ODS), including T2/Fluid attenuation inversion recovery (FLAIR) hyperintensity in the bilateral basal ganglia and the midbrain tegmentum, for which Wilson disease, mitochondrial disorders, and other metabolic disorders were the differential diagnoses. Infection and toxin workup was negative. The patient was given pulse methylprednisolone, resulting in gradual improvement.¹ Further workup revealed reduced serum ceruloplasmin (11.8 mg/dl; normal: 20–55), raised serum copper (165 μg/dl; normal: 80–155), and urinary copper excretion (212 μg/24 hours; normal: 3–35). Ophthalmological examination showed the presence of Kayser-Fleischer ring (Fig. 2). Ultrasound showed coarse liver echotexture. Thus, the diagnosis of Wilson’s disease was confirmed, and the patient was started on penicillamine and zinc therapy. ODS in this patient was likely due to malnutrition and liver dysfunction. Abnormal signals in the central pons are also seen in Wilson’s disease; whether these changes differ from those of ODS remains unclear.² Due to its varied presentation, ODS often goes unnoticed initially in most cases.³ Therefore, prompt diagnosis is crucial to prevent potential complications. The patient responded to steroids before starting de-coppering therapy, which favours demyelination in the background of Wilson’s disease.

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FIG 1. (a) Axial T2W image and corresponding (b) axial diffusion weighted images at the level of pons show a T2 hyperintense lesion in the central part of the pons with a trident appearance (white arrow in a) and corresponding diffusion restriction (white arrows in b) suggestive of demyelinating disease. Note that the ‘trident sign’ in Wilson’s disease represents pontine hyperintensity trisected by a hypointense line, unlike the trident appearance of osmotic demyelination syndrome; (c) Axial T2W image at the level of the basal ganglia shows symmetric hyperintense signal in the caudate heads and putamina bilaterally (white arrows); (d) Axial fluid attenuation inversion recovery image at the level of mid-brain shows prominent hypointense red nuclei (yellow arrows) and substantia nigra (white arrows), with hyperintense signal in the tegmentum of the mid-brain (red arrow), reminiscent of the ‘face of giant panda sign’

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FIG 2. (a) Slit-lamp examination showing annular greenish-brown pigmentation (yellow arrow), which was visible to the naked eye, also suggestive of Kayser-Fleischer ring; (b) Scheimpflug image (Pentacam) showing a prominent hyper-reflective pre-Descemet band (yellow star) in the corneal periphery corresponding to the pigmentation

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