Category: Rare Genetic and Metabolic Diseases
Objective: To describe the neuroimaging findings and their importance in the prognosis during the treatment. Additionally, to describe the state of art of the treatment.
Background: Wilson’s disease (WD) is a rare metabolic disorder involving copper metabolism and neuroimaging is an important part of the evaluation. The finding of “face of giant panda” as pathognomonic of WD, is infrequently noted (1). Changes in the brain MRI are present in symptomatic patients, involving almost all the structures of the brain. After treatment with chelating agents, clinical deterioration occurs in 10% of patients. It can be reversible in 53% of cases and partially improve in 13%. The reason for this deterioration is poorly understood (2).
Method: We performed a systematic review from 2012 to 2022 in Pubmed, Google Scholar and Cochrane. We described treatment options and advances based on an unusual case. Our patient was diagnosed with WD at age 19, treated initially with penicillamine for 2 years. The treatment was stopped and after several years he developed gait difficulty and became wheelchair bound. A basal MRI was performed six months before our initial evaluation. Penicillamine was restarted, a repeat brain MRI (2 months after) showed worsening of the basal ganglia lesions, atrophy and additional deposits all over the brain. His neurological status deteriorated, and he died. He was asymptomatic from 15 years before his decline. A video is presented as supplementary material.
Results: The use of penicillamine in patients with WD, particularly in the dystonic forms, is controversial, including reports of worsening of symptoms after initial therapy. Brewer (3) suggested that penicillamine should not be used as initial therapy. On the other hand, Walshe (4) considers penicillamine as the treatment of choice. Our patient’s MRI showed marked progression within the lentiform nuclei, thalamus and caudate nucleus, globus pallidum bilaterally, brainstem, and brachium pontis in two months. To our knowledge these severe changes have not been reported under this clinical scenario.
Conclusion: WD can lead to neurologic involvement and a spectrum of neuroradiological changes. It is important to be aware of these findings. The patient worsened despite treatment. We present the state of the art in WD treatment and compare the imaging findings as a possible prognostic tool.
References: 1. Shribman S, Poujois A, Bandmann O, Czlonkowska A, Warner TT. Wilson’s disease: update on pathogenesis, biomarkers and treatments. J Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1053-1061. doi: 10.1136/jnnp-2021-326123. Epub 2021 Aug 2. PMID: 34341141.
2. Helio A.G. Teive, MD, PhD, Arnolfo de Carvalho, MD, PhD, Renato P. Munhoz, MD, PhD, Adriana Moro, MD, PhD, Mariana Moscovich, MD, Egberto Reis Barbosa, MD, PhD, Imaging and Clinical Worsening After Penicillamine Treatment inWilson’s Disease. Movement Disorders Clinical Practice , 2015; 447-448
3. Brewer GJ. Penicillamine should not be used as initial therapy in Wilson’s disease. Mov Disord1999;14:551–554.2.
4. Walshe JM. Penicillamine: the treatment of first choice for patients withWilson’s disease. Mov Disord1999;14:545–550.
To cite this abstract in AMA style:E. Urrea-Mendoza, S. Zaheer, F. Revilla. Deterioration in Wilson’s Disease despite treatment. Are the neuroimaging findings useful as prognostic factor? [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/deterioration-in-wilsons-disease-despite-treatment-are-the-neuroimaging-findings-useful-as-prognostic-factor/. Accessed September 22, 2023.
« Back to 2022 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/deterioration-in-wilsons-disease-despite-treatment-are-the-neuroimaging-findings-useful-as-prognostic-factor/