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. 2016 Mar 1;51(1):15-21.
doi: 10.5152/TurkPediatriArs.2016.3080. eCollection 2016 Mar.

Neurological features and management of Wilson disease in children: an evaluation of 12 cases

Ayşe Kaçar Bayram  1 , Hakan Gümüş  1 , Duran Arslan  2 , Güldemet Kaya Özçora  1 , Sefer Kumandaş  1 , Neslihan Karacabey  2 , Mehmet Canpolat  1 , Hüseyin Per  1
Affiliations

Neurological features and management of Wilson disease in children: an evaluation of 12 cases

Ayşe Kaçar Bayram et al. Turk Pediatri Ars. .

Abstract

Aim: Wilson's disease is an autosomal recessive disorder of copper metabolism which leads to copper overload in different tissues of the body. The aim of this study was to present the neurologic features of Wilson's disease and to assess the clinical course of neurological findings in children receiving anti-copper treatment.

Material and methods: Twelve children with a diagnosis of Wilson's disease and findings of central nervous system involvement who were followed up in the Department of Pediatric Neurology and Pediatric Gastroenterology of the School of Medicine at Erciyes University were enrolled in the study.

Results: The study cases consisted of five boys (42%) and seven girls (58%). The mean age at the time of diagnosis was 9.9±3.4 years (5-15 years). The mean duration of follow-up was 49.0±36.4 months (15-128 months). Neurological findings at presentation included headache in seven cases (58%), tremor in seven cases (58%), dystonia in three cases (25%), ataxia in two cases (17%), dizziness in two cases (17%), numbness in the hands and acute weakness in one case (8%) and syncope in one case (8%). Headache, dizziness, syncope, numbness in hands and acute weakness symptoms resolved completely within six months after receiving treatment. Movement disorders either decreased or remained stable in seven of the eight cases. However, one patient developed progressively worsening dystonia despite to all treatments.

Conclusions: Wilson's disease can be manifested with signs and symptoms of central nervous system in the childhood. Wilson's disease should be considered in all children presenting with movement disorders. A complete neurological assessment should be carried out in all cases with Wilson's disease.

Keywords: Children; Wilson’s disease; movement disorders; neurotoxicity.

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Figures

Figure 1.
Figure 1.
Hyperintense signal changes showing copper accumulation in the basal ganglia in our patient who developed progressive worsening in dystonia
See this image and copyright information in PMC

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