Wilson's disease: clinical and radiological features.

ABSTRACT

BACKGROUND: Wilson's disease is a treatable movement disorder with autosomal recessive inheritance which is associated with severe morbidity and mortality if not treated early. MATERIAL AND METHODS: The clinical and radiological features of 22 cases of Wilson's disease seen during January 1984 to December 1993 were analysed for clinical presentation and common radiological features. RESULTS: Among all the patients extrapyramidal features were the commonest (19/22 patients), followed closely by impaired higher mental functions (17/22 patients) and cerebellar signs (11/22 patients). In patients with onset of symptoms before 20 years, the common presentations were impaired higher mental functions, speech disturbance, dystonia and choreo-athetosis; whereas in patients with onset after 20 years cerebellar signs were commonest. The commonest CT head abnormality was basal ganglion hypodensity (10 patients) followed by brain stem hypodensity (6 patients). CONCLUSIONS: The clinical and CT scan features are evaluated and compared with reported series. Hypodensities of brain stem earlier reported a rarity, was seen in 6 out of 22 cases.