To the Editor: This hospital-based, observational, descriptive study done over a period of 1 y included 35 children (M:F = 1.33:1), aged 1–18 y, having unexplained cognitive, psychiatric, or movement disorder with unexplained hepatic disorder and asymptomatically raised serum transaminase. Diagnostic evaluation included detailed history, physical examinations, neuropsychiatric assessments and lab investigations including serum ceruloplasmin, 24-h urinary copper after penicillamine challenge, MRI brain with contrast, slit-lamp examination of eyes and genome sequencing, if required, and various guidelines and scoring system (Ferenci score) recommended by ESPGHAN and ISPGHAN [1,2,3].

Mean age of the study participants was 8.8 ± 4.3 y; 20 (57.1%) were male. Out of 35, 12 (34.3%), 6 (17.1%), and 17 (48.6%) had both hepatic and neurological, neurological, and hepatic presentations, respectively. Out of 29 patients with hepatic presentation, 11 (37.9%) had CLD. Out of 35, 28 (80%) had hepatomegaly, 20 (57.1%) splenomegaly, 16 (45.7%) jaundice, and 10 (28.6%) had ascites. Ultrasonography revealed coarse liver echotexture (n = 24), features of cirrhosis (n = 11), and surface nodularity (n = 10). Neurological manifestations were rigidity (n = 11), slurred speech (n = 6), dysarthria (n = 5), abnormal gait (n = 5), behavioral problem (n = 4), tremors (n = 4), seizures (n = 3), dystonia (n = 2), and chorea (n = 1). KF ring was present in 18 (51.4%) patients. Mean AST, ALT, and ALK were 211.5 ± 130.5 (p value = 0.199), 162.8 ± 53.33 (p value = 0.512), and 240 ± 35.093 IU/L (p value = 0.0001; statistically significant), respectively. Mean PT (seconds) was 22.83 ± 6.88 with INR 2.183 ± 1.2583, with no statistically significant difference in various presentations. Out of 35, 22 had serum ceruloplasmin between 1 and 10 mg/dL, and 26 had 24-h urinary copper excretion > 80 µg/d. Mean ceruloplasmin and 24-h urinary copper excretion were 12.11 mg/dL and 1508.6 ± 847.2 µg/d, respectively. Hepatic, neurological, and both presentations were comparable in both categories of Wilson’s disease (WD) without statistically significant age and gender difference. Ferenci score was > 4 in 20 (highly likely WD) and < 4 in 15 (probable WD).