Objective: We aimed to describe different clinical and radiological presentations of WD and insist on the necessity of early diagnosis to ensure therapeutic efficiency.

Background: WD is a rare genetic disease caused by abnormalities in copper metabolism. This disease is curable if treated early, however, clinical manifestations are highly heterogenous.

Method: we performed a retrospective study of patients with genetically confirmed WD from our department of Neurology between 1975 and 2021. The data collected included family history, age of onset, various neurological and systemic clinical signs, brain imaging, copper workup data and eventually clinical outcome after treatment.

Results: we selected 27 patients with an age of onset of 17 years [4-38] and a diagnostic delay of 3.8 years [1-30]. Consanguinity was reported in 48% and positive family history in 33%. Initially, 8 had digestive symptoms. Our patients mainly developed movement disorders (66%), as 12 patients had parkinsonism, 5 had postural tremor, 7 had dystonia and 2 had ataxia. Besides, dysarthria was reported in 10 patients, and psychiatric disorders in 7. Brain MRI showed involvement of the striatum in 10 patients and was normal in 3 cases.

Seven patients had the typical Keyser Fleisher ring and the copper workup was highly suggestive of WD in 70%. After treatment with penicillamine, the clinical course was variable: 15 are still autonomous and 8 patients are bedridden with a severe encephalopathy.

Conclusion: once treatment is delayed, WD can be disabling hence the importance of early diagnosis and genetic study of family members of affected patients.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/wilson-disease-a-single-center-study-from-tunisia/