Brain MRI Abnormalities in Children with Wilson's Disease: Is it Indicator for Liver Transplantation?

Abstract

Abstract Background: Wilson's Disease (WD) is an autosomal recessive disorder of copper metabolism with a prevalence of about 1in 30000 people.It's more common with parental consanguinity. The adenosine triphosphate 7B (ATP7B) gene, coding the copper transporting P-type ATPase has been reported to have 380 variants. Copper leads to tissue damage by accumulating in many organs includingmainly the liver and brain. Neurological manifestations of WD are ascribed toab-normal deposition of copper in brain tissues, especially deep gray matter (basal ganglia and thalamus) and subcortical white matter. Wilson's disease can present clinically by liver disease, neurological disorderor psychiatric illness. In childhood, hepatic manifestations predominate with ahighly variable spectrum ranging from self-limiting hepatitis to fulminanthe-patic failure. Aim of Study: The aim of this study was to detect brain changes by magnetic resonance imaging in children with Wilson's disease and their correlation with clinical and bio-chemical findings. Patients and Methods: This study included 70 patients. 35 patients with WD and 35 patients with other Chronic Liver Disease (CLD) as control. WD group involved 20 males and 15 females. Their mean age was (12.73±2.86) year. Control group included 35 patients with CLD (20 with Autoimmune Hepatitis (AIH), two with sclerosing cholangitis and 13 with chronic HCV. Results: Among WD group, we reported 15 patients (42.8%) had abnormal MRI. T1 weighted images showed bilateral symmetrical hyperintensity signal of globuspallidus in two patients (5.7%), hypointensity signal of left globuspal-lidus in one patient (2.8%) and bilateral symmetrical hyper-intensity in thalami in one patient (2.8%). T2 and FLAIR hyperintensity signals mainly involving basal ganglia were present in 11 patients (31.4%). Ventricular system was affected in two patients (5.7%), it was prominent in one patient and the other patient had hydrocephalus. Patients were followed-up over a period of 6-18 months and we reported that three WD patients (20%) from those who had abnormal MRI deteriorated rapidly and were candidates for LT, while none of other patients needed LT. Conclusions: Bilateral symmetrical hyperintense signals in T2 weighted and FLAIR images mainly involving basal ganglia are specific for WD and represent CNS involvement of WD. Abnormal MRI may be a bad prognostic factor as 20% from abnormal MRI WD subgroup deteriorated rapidly and were candidates for LT.