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Volume 12 Issue 3 ( July-September ) 2023

Original Articles

To investigate the prognostic factors in patients who present with severe neurologic forms of Wilson disease
Dr. Aditi Rajan, Dr. Shubham Mishra, Dr. Virendra Atam

Aim: To investigate the prognostic factors in patients who present with severe neurologic forms of Wilson disease. Material and methods: The investigation was carried out on a substantial cohort of individuals diagnosed with Wilson's disease (WD). The diagnosis of these patients has been established through the evaluation of their clinical manifestations, the identification of KF ring via slit-lamp examination, the observation of low levels of serum copper and ceruloplasmin, and the detection of elevated 24-hour urinary copper excretion. Clinical severity and disability status were scored using the Neurological Symptom Score (NSS)1, Chu staging2 and Modified Schwab and England Activities of Daily Living (MSEADL)3 scores. Results: The majority of patients exhibited low levels of serum caeruloplasmin (mean 9.01 ± 2.15 mg/dl) and elevated 24-hour urinary copper (mean 281.47 ± 22.54 µg/day,), with only four patients deviating from this pattern in each case. Upon initial assessment, it was observed that none of the individuals exhibited signs of substantial hepatic failure (with a mean serum bilirubin level of 0.71 ± 0.25 mg/dl and a mean serum albumin level of 3.97 ± 0.45 g/dl). The average MRI score was calculated to be 10.83 ± 1.14. The Neurological Symptom Scale (NSS) demonstrated a significant improvement, increasing from an initial mean value of 8.99 ± 1.85 to a final mean value of 27.44 ± 1.77. Similarly, the Chu stage exhibited notable progress, with an initial mean value of 1.9 ± 0.7 increasing to a final mean value of 2.8 ± 0.8. Additionally, the Modified Self-Efficacy for Activities of Daily Living (MSEADL) score showed substantial improvement, rising from an initial mean value of 26.14 ± 3.14% to a final mean value of 96.1 ± 10.2%. Conclusion: We concluded that individuals afflicted with severe manifestations of Wilson's disease (WD) may experience a favorable prognosis when subjected to appropriate therapeutic interventions.

 
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