Outcome of Wilson’s disease in Bangladeshi children: a tertiary center experience

Abstract

Background Wilson disease (WD) is an inherited disorder of copper metabolism commonly involving the liver, cornea, and brain. Its incidence is increasing day by day worldwide. Early diagnosis and prompt treatment are the key for best outcome. Material and methods A cross-sectional descriptive study was done from January 2014 to December 2019. Sixty children of both genders between 3 and 18 years were diagnosed by clinical and laboratory profile meeting selected criteria. Results Mean age was 8.42 ± 2.6 years and male female ratio was 1.5:1. Consanguinity of marriage was found in 38.3% cases. Seventy percent of cases were hepatic, 16.7% were neuropsychiatric, 5.0% were hepatic with neuropsychiatric, and 8.3% cases were manifested asymptomatically. Asymptomatic and hepatic WD were reported between 3 and 10 years and most of the neuropsychiatric and hepatic with neuropsychiatric manifested after 10 years of age. More than 50% cases improved, a little more than 20% children died, 18.4% were unchanged and 6.6% were hepatic added neuropsychiatric manifestations. Most of the asymptomatic (100%) and hepatic (61.9%) cases improved. High mortality was found with 76.9% cases of acute liver failure (ALF), 7.7% case of chronic liver disease (CLD) and 25% cases of CLD with portal hypertension (CLD and PH). Most of the neuropsychiatric cases (90.0%), and approximately two-third (66.6%) of hepatic with neuropsychiatric cases remained unchanged. Neuropsychiatric manifestations were added in 15.4% cases of CLD and 25% cases of CLD with PH patient. The treatment was well tolerated in 66% children without any side effects. Low WBC (6.3%) and platelet count (4.3%), vomiting (6.3%), anorexia (4.3%), loss of taste (4.3%), rash (4.3%), and proteinuria (2.1%) were found in few cases. Conclusion Majority of the children were presented with hepatic manifestations. More than half of patients with WD treated by D-penicillamine (DP) were improved. Significant mortality was found in acute liver failure whereas neuropsychiatric presentations had persistent abnormalities. No major side effects of DP was observed in most of the cases. Early diagnosis and prompt treatment were crucial for better outcome.

Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson’s Disease—Case Report and Literature Review

“…The most prevalent neurological symptoms include ataxia, tremor, dystonia, and parkinsonism, every one of which is frequently accompanied by dysarthria, abnormalities of gait and posture, drooling, and dysphagia [12,13,36]. More than 90% of patients with a neurological presentation have Kayser-Fleischer rings [12,13,35,36,38], but less than 50% of cases show a hepatological presentation [12,13,24,38]. In our case, the Kayser-Fleischer corneal ring and neurological symptoms were absent, making the diagnosis difficult to establish.…”

“…However, despite this, they have a relatively good prognosis [34]. In a tertiary center in Bangladesh, from a group of 60 patients diagnosed with WD, 42 presented with hepatic symptoms, of which 11 (22%) had acute hepatitis, 13 (26%) had acute liver failure, and eight (16%) had chronic liver disease with portal hypertension [35].…”