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Wilson’s disease is a disorder of copper metabolism, primarily affecting the liver and brain. Atypical clinical presentation and delayed or misdiagnosis is not uncommon at initial stage. Primary care physician should be aware about varied manifestation of this potentially treatable disorder to avoid progression and disability.
A 35 years male presented with 4 year history of predominant psychiatric symptoms in the form of impulsive behaviour initially and later developed delusion, visual hallucination and vivid dreams. He was being treated for schizophrenia with olanzapine, quetiapine and lorazepam without much avail. He was institutionalized for severe psychosis 3 months back and also developed tremor of hand and change in voice for which referred to neurology. He had past history of jaundice at age of 9 years which resolved with treatment. He was born of non-consanguineous marriage without family history of psychiatric illness. He was alert with anxious look. It was a surprise to see a nice well formed Kayser–Fleischer ring on torch light (Figure 1a) which was duly confirmed by slit lamp. He had spasticity with brisk deep tendon reflexes without motor weakness. He was having tremor of hand at rest and action. Investigation revealed haemoglobin 10.8g/dl with normal total leucocyte and platelet count. His liver function tests showed a serum bilirubin total 0.7mg/dl, aspartatotransferase 51 U/L, alaninetransferase 46 U/L, alkaline phosphatase 133 U/L with normal serum protein, albumin and coagulation profile. Abdominal ultrasound revealed mild splenomegaly with normal echo texture of liver. His ceruloplasmin level came 0.03g/dl (normal,>0.2g/dl) which was markedly reduced. His 24 h urinary copper excretion was 116.4 µg (normal, 15–70). Cranial MRI revealed hyperintense signals in bilateral caudate, putamen, thalamus in T2 and FLAIR (fluid attenuation inversion recovery) sequence (Figure 1b). The hyperintense signals were also noted in dorsal midbrain and pons. He was treated with zinc acetate 150mg/day in three divided dosage with dietary modification. D-penicillamine was added 250mg/day which was increased gradually to 500mg/day at one month along with pyridoxine 40mg/day with monitoring of haemogram, proteinuria and neurologic worsening.
Wilson’s disease is an autosomal recessive inborn error of copper metabolism due to ATB7 gene mutation resulting in to impaired biliary copper excretion, hepatic, brain copper accumulation and copper toxicity.1 Primary clinical presentations are hepatic and neuropsychiatric in majority. Kayser–Fleischer ring is present in 99% of neuropsychiatric patients. Due to varied manifestation the disease is often misdiagnosed and several years lapse before definitive diagnosis. In a study of 189 patients the diagnosis was confirmed in 137 with a correct referral diagnosis in 72% with mean delay in referral of 8 years and reason for this was clinical and biochemical errors.2 In another study of 136 patients with Wilson’s disease an analysis about initial diagnosis was labelled as organic disease other than Wilson’s in 25.7%, psychiatric illness in 23.5%, seizure disorder 19.1% and Wilson’s disease in 31.6% patients.3 Causes of delayed diagnosis were lack of awareness among treating physicians and laboratory errors. Our patient presented with 4 years history of psychiatric symptoms and received antipsychotic treatment. He further developed extrapyramidal features like hand and voice tremor and attributed to medication side effects. In a study of medical records of 307 patients of Wilson’s disease a diagnostic error was found in 192 (62.5%) of patients, by doctors of different specialities on initial evaluation.4 The range of psychiatric symptoms varies from major depression, mania and antisocial behaviour to psychosis.5 Sometime severe psychiatric manifestations in the form of affective disease spectrum and schizophreniform-illness may pose a diagnostic challenge.6 Our patient presented with psychiatric illness, had history of jaundice, worsening symptoms despite treatment and addition of new symptoms like tremor had enough clues to look for secondary cause. Wilson’s disease a treatable and preventable disorder, to be ruled out in all patients with psychiatric symptoms as early diagnosis and treatment improves outcome.
Conflict of interest: None declared.