A study of the clinical, laboratory and imaging findings of Wilson Disease among children presenting with extrapyramidal abnormal movements

Wilson disease (WD) is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. WD is often fatal if not recognized and treated. The most commonly affected structures in the brain include the putamen, globus pallidus, nucleus caudatus, thalamus, and brain stem, neurological symptoms are present in approximately 15% of the children with WD, usually manifesting with movement disorders. Objective: study the prevalence of WD among children presenting with extrapyramidal abnormal movements, frequency of the clinical presentations, hepatic manifestation, abnormal laboratory findings, abnormal MRI findings, the prevalence of presymptomatic cases of WD among family members and frequency of neurological deterioration with D penicillamine. Patients and methods: We recruited 40 patients presenting with extrapyramidal abnormal movements. All cases were subjected to full history taking, complete Turkish Journal of Physiotherapy and Rehabilitation; 32(3) ISSN 2651-4451 | e-ISSN 2651-446X www.turkjphysiotherrehabil.org 41794 neurological examination, full liver function, serum ceruloplasmin, 24 urinary Cu before and after using D penicillamine, slit lamp examination and brain MRI. Results: The study included 40 patients, divided into 3 groups. The tremors group included 22 patients (55 %) with a mean age at onset of symptoms was 9.5± 1.36 years. Eighteen patients (80%) had kinetic tremors while 4 patients (20%) had postural tremors; none of them fulfilled the diagnostic criteria of WD. The chorea group included 3 patients (7.5%) with the mean age of onset of symptoms was 6.5 ± 2 years; none of them fulfilled the diagnostic criteria of WD. The dystonia included 15 patients (37.5%) with a mean age of onset of symptoms was 11.6 ± 1.65 years. Among this group, two patients were diagnosed as WD ( both had mildly increased GGT, low serum ceruloplasmin, increased 24 urinary Cu excretion after D penicillamine, Kayser Fleischer rings and abnormal MRI brain hyperintense signals detected in basal ganglia and brain stem). Another patient presenting with dystonia was diagnosed by genetic analysis as Niemann Pick disease type C (NPC). Conclusion: neurologic WD commonly presents with dystonia and dysarthria in children. All family members for cases with WD should be screened for early detection of the presymptomatic cases. NPC should be considered in the differential diagnosis of pediatric movement disorders.