Retrospective study of multi-system involvement in children′s Wilson disease

Abstract

Objective To discuss the multiple system involvement and cranial magnetic resonance imaging(MRI) manifestations of Wilson disease(WD) in children. Methods This study was conducted on hospitalized children who were diagnosed as WD at the Department of Pediatrics, Peking University First Hospital during January 2001 to December 2017, and their clinical data were reviewed. Results Sixty-five children were enrolled, among whom 28 cases were of neurological type, while 37 cases were of non-neurological type.The average onset age of neurological type was 11.0 years old, while non-neurological type was 8.1 years old(t=3.328, P=0.001). Seventy-six point nine percent children had at least 2 systems involved, among which the liver and the brain were the most commonly involved, while the involvement in the urinary and the blood systems were not scarce(55.4% and 33.8%, respectively). Among K-F ring, ceruloplasmin and 24-hour urinary copper excretion, 17.2% of the cases had 2 of the three items normal, and 13.8% had 1 item normal.K-F ring positive could be seen in all neurological type, while the positive rate was 57.6% in non-neurological type, and the difference was statistically significant(χ2=13.981, P<0.001). The average age of K-F ring positive patients was(11.8±2.7)years old, while it was (7.6±3.7)years old in K-F ring negative patients, and the difference was statistically significant(t=4.221, P<0.001). There was no statistic diffe-rence in 24- hour urinary copper excretion between neurologic and non-neurologic type(t=0.024, P=0.981). The most common neurologic symptoms included dysarthria, tremor, drooling/swallowing/chewing problems, abnormal postures, etc.Basal ganglia, white matter involvement, brain atrophy and ventricle enlargement in cranial MRI could all be seen in both types, and basal ganglia was the most commonly involved site, but the thalamus and the brain stem could only be seen in neurologic type.Among 30 patients with abnormal cranial MRI patients, the earliest onset age of basal ganglia, ventricle enlargement, brain atrophy, and white matter involvement were all at 8 years old, while the earliest onset age of the thalamus and the brain stem involvement was at 12 years old.The longer the course of neurological symptoms, the more involvement could be found in the thalamus and the brain stem. Conclusions WD always present with multi-systems involvement, with a variety of clinical manifestations.One or two normal characters among K-F ring, ceruloplasmin and 24-hour urinary copper excretion could not exclude WD.Cranial MRI abnormalities could present earlier than neurological symptoms.Basal ganglia was the most commonly involved, while the thalamus and the brain stem were involved later, mostly in their adolescents. Key words: Wilson disease; Retrospective study; K-F ring; Cranial magnetic resonance imaging; Child