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

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. (Turk Pediatri Ars 2016; 51: 15-21)

Mental Health, Cognitive, and Neuropsychiatric Needs in Children and Young People With Wilson Disease

“…Neurological symptoms were consistently documented across the different modes of presentation rather than only in those with advanced disease or presenting acutely, and were frequently reported in patients with normal MRI scan results. Our data are in keeping with preliminary evidence of subtle neurological manifestations in CYP with hepatic WD 4. WD treatment is based on halting (and reversing) the progression of hepatic WD, and studies are needed to determine whether neurological symptoms may develop/progress if there is suboptimal management.…”

“…[1][2][3] However, there is emerging evidence that neurological symptoms are present and poorly identified or these features may emerge later in children and young people (CYP) diagnosed with hepatic WD. [4][5][6] Data regarding the mental health of CYP with WD is also limited to single case studies meaning broader conclusions cannot be drawn. [7][8][9] There is some evidence of impaired cognition in CYP with hepatic WD 10,11 although these impairments are usually subtle.…”

“…Neurological symptoms are considered to be rare in children with WD presenting with hepatic onset, reported to affect only 4%–6% 1–3. However, there is emerging evidence that neurological symptoms are present and poorly identified or these features may emerge later in children and young people (CYP) diagnosed with hepatic WD 4–6. Data regarding the mental health of CYP with WD is also limited to single case studies meaning broader conclusions cannot be drawn 7–9.…”

Medical treatment of dystonia

“…Treatment includes chelation therapies (D-penicillamine, trientine and tetrathiomolybdate) and zinc sulfate [28–31]. Among treatable neurometabolic disorders, cerebrotendinous xanthomatosis deserves special mention, and careful search for tendon xanthoma and blood levels of cholestanol are useful prior to genetic testing.…”

Acute Liver Failure for Liver Transplantation Due to Hepatolenticular Degeneration:a Case Report and Literature Review

“…In children and adolescents, we are poor ability to recognize the performance of neurological or mental system abnormalities related to WD. Such manifestations are easily misdiagnosed as mental disorders [8][9][10] . The most common psychiatric symptoms include mood swings, personality changes, depression, and cognitive impairment.…”