Study of Pattern of neurological and hepatic manifestation of Wilson’s disease

Abstract

Background: The incidence of Wilson's disease (WD) is 1 in 30,000 individuals. Understanding the neurological and hepatic manifestation can help in early recognition and intervention. Aims and objective: To study and compare the pattern of neurological and hepatic manifestation of WD. Materials and methods: Fifty patients with WD were studied prospectively at the Medicine Department Gandhi Medical College and Hamidia Hospital, Bhopal, from July 2018 to June 2021. Detailed demographic and clinical history was obtained along with laboratory investigation details such as CBC, platelets, RFT, LFT, RBS, Sr. - Sodium - Potassium, Sr - Calcium - Magnesium, CT/MRI Head and EEG. Results: WD was more prevalent in the young and working-age group of 21-30 years (38%). Ascites, abnormal hemoglobin level (98%), SGOT (100%), SGPT (80%), total bilirubin level (72%), AKPo4 (46%), TLC (34%), INR (86%) and 52% had negative K-f ring. Altered echotexture splenomegaly (22%) was the most common finding in USG. The majority of the patients had shown the presence of D-penicillamine/zinc (80%) Consumption. Those with T2 weighted hyperintensity in putamen thalami brainstem c brain atrophy had mean serum ceruloplasmin and a 24-hour urinary copper level of 15.20 and 160.49. In contrast, those with T1 weighted image hypointensity and brain atrophy mean serum ceruloplasmin and a 24-hour urinary copper level of 7.83 and 145.34. Conclusion: Patients with WD were young. The presence of ascites, abnormal hemoglobin was common. Abnormality in liver function tests is highly prevalent in WD. Change in the sonographic liver texture and a Kayser-Fleischer ring (KFR) can support the suspicion of the disease. T2 weighted, hyperintensity in putamen thalami brainstem c brain atrophy and T1 weighted image hypointensity and brain atrophy were also common and correlated with the Serum Ceruloplasmin and 24-Hour Urinary Copper level.