wilson 's disease ( wd ) is an autosomal recessive disease , involving a defect of copper transport by hepatic lysosomes , caused by mutations in the atp7b gene that lies on chromosome 13q14.3 .
reduced biliary excretion of copper results in a net positive copper balance and copper deposition in the liver , brain , kidneys , and skeletal system .
wd is one of the few curable disorders provided ; it is diagnosed and treated early .
we report a young man presenting with extrapyramidal signs and mutism , who was initially treated as a psychiatric disorder .
a young male presented with the chief complaints of withdrawn behavior , decreased verbal output , and decreased self - care for the last 9 months followed by tremulousness , increased salivation , and slowness of activities for the last 6 months .
he would not be affected emotionally by the events taking place in the household , as opposed to his usual self .
he would not participate in the household activities and would do anything only on the insistence of his family members .
previously , he used to work in the fields and feed the animals , but , after the onset of the illness , gradually he stopped doing these things and would stay at home most of the time .
at the start of the illness , he would initiate conversation at times , but , over a month , his interaction reduced so much that he would reply only when spoken to . at times , he would wander in the fields but would come back home .
occasionally , once in 5 - 6 days , he would be seen smiling to self , but when asked about it , he would deny any such thing . over a period of 3 months
, he had stopped taking a bath regularly and often would not even change his clothes when not insisted .
he was shown to several faith healers during the course of the initial 3 months , but there was no improvement in his condition .
after about 3 months into the illness , there was a discrete episode of the patient wandering away from his house at night .
he was found in the morning and did not recall any of the events at night and simply said that he had reached the place in the morning itself . following that incident , the patient stopped taking food himself and had to be fed by the mother .
he remained withdrawn and apathetic and was unable to carry out the activities of daily living .
initially , tablet risperidone 2 mg bd was given and was subsequently replaced by tablet olanzapine 10 mg hs when no response was obtained in 2 weeks .
about 4 months from the start of the illness and after about a week of starting medications , the parents also noticed that the patient had developed tremulousness of both hands which was interfering with the day - to - day activities .
it was also noticed that the salivation had increased and over a period of 3 weeks , drooling of saliva from the mouth was noticed .
the patient was then taken to a neurologist 2 months later , and medications were started , the records of which are unavailable .
on general physical examination , the patient had a dystonic facies with a vacuous smile and pooling of saliva in the mouth .
on neurological examination , higher mental function examination was not possible as the patient was mute . however , comprehension was intact as the patient was following commands such as being asked to raise his respective hand .
motor examination revealed bilaterally symmetrical rigidity with dystonic finger posturing and striatal toe with postural tremors .
laboratory investigations revealed markedly decreased serum ceruloplasmin ( 3 mg / dl ; normal range 15 - 45 mg / dl ) and markedly elevated 24 h urinary copper ( 262.02 g / day ; normal range 15 - 60 g / day ) .
magnetic resonance imaging brain revealed signal intensity alterations in bilateral basal ganglia [ figure 1 ] and thalami [ figure 2 ] .
gradient - recalled echo sequence showed blooming in bilateral basal ganglia [ figure 3 ] .
the parents and siblings were also examined and did not show a kf ring ; serum ceruloplasmin was also normal .
coronal t2-weighted image showing hyperintense lesions in bilateral basal ganglia bilateral thalamic hyperintensities seen on a t2-weighted image gradient recalled echo images showing blooming effect in bilateral basal ganglia the patient was started on tablet d - penicillamine 100 mg bd .
our patient presented with mutism , a vacuous smile , parkinsonian features , dystonic finger posturing , and bilateral striatal toes .
bedside , examination revealed a brownish pigmentation in the upper part of the cornea , which was confirmed to be kf ring on slit lamp examination , and had a low serum ceruloplasmin with increased urinary copper excretion .
he was , however , misdiagnosed to be suffering from a psychiatric disorder at the initial consultation with a psychiatrist and prescribed neuroleptic drugs .
a correct diagnosis of wd was made , after a delay of 9 months , when he came for consultation to us . in a consecutive series of 307 patients seen over a period of 30 years in a tertiary care hospital , diagnostic errors by referring doctors
it is noteworthy that 37 patients were misdiagnosed during the first evaluation even in the tertiary care hospital .
incorrect diagnoses were as diverse as flat feet , myxedema , myasthenia gravis , encephalitis , multiple sclerosis , parkinson 's disease , schizophrenia , depression , anxiety state , etc .
hu et al . noted that among 1011 cases of hepatolenticular degeneration , 516 cases were initially misdiagnosed , 193 cases failed to be diagnosed as a specific disease , and only 302 cases were correctly diagnosed within 3 months after the onset .
the curative effect was better in the group with early diagnosis than in the groups with misdiagnosis and without a precise diagnosis ( p < 0.01 ) .
it has been reported that early manifestations of wd are generally hepatic or neurological ( 40% each ) while the remainder present with psychiatric , hematological , renal , or osteochondrotic symptoms .
walshe and yealland analyzed the initial diagnosis of 136 patients with wd and observed that it fell into four groups , that is , organic disorder other than wd 25.7% , psychiatric illness 23.5% , seizure disorder 19.1% , and wd 31.6% .
. there are several neuropsychiatric symptom clusters established for wd patients : personality disorders , mood disorders , cognitive deficits , psychotic manifestations , etc .
psychiatric symptoms can occur before , concurrent with or after the diagnosis and treatment for wd . in the brain , copper
is commonly deposited in the basal ganglia , particularly in the putamen and globus pallidus .
damage to these areas leads to the neuropsychiatric symptoms seen in wd . according to a recent review
, 30 - 40% of patients have psychiatric manifestations at the time of diagnosis , and about 20% have already seen a psychiatrist prior to the diagnosis of wd . the causes for delay in diagnosis
are varied and include rarity of the disease , protean clinical manifestations , lack of awareness among treating physicians , laboratory errors in the estimation of copper and ceruloplasmin concentrations and evaluation for kf rings by an inexperienced ophthalmologist .
the patients presenting with behavioral problems often receive antipsychotic agents . with the evolution of extrapyramidal symptoms ,
they are diagnosed as having a drug - related adverse event , although these are the hallmark of neurological wd . in our case , the cause of the delay in diagnosis was mainly the predominant psychiatric presentation in the patient and also the delay in seeking help from proper health professionals .
furthermore , the development of extrapyramidal symptoms in the patient further complicated the case as its occurrence after taking medications could be due to medications itself that are drug - induced parkinsonism as well as could have been an independent neurological symptom of wd .
this delay could have been prevented , had a proper neurological examination been done at the first referral , and laboratory investigations conducted early .
we believe that diagnostic possibility of wd should be considered in all young patients presenting with recent onset behavioral and personality changes .
screening tests for all suspected patients should include slit lamp examination for kf ring by an experienced ophthalmologist , abdominal ultrasound for architectural changes in liver , serum copper and ceruloplasmin , and 24 h urinary copper from a reliable laboratory .
the diagnosis of wd is not difficult if the clinician thinks of it and includes it in his differential diagnosis .
however , it needs to be emphasized that there is no typical clinical picture and even in the same family , the presentation may be different .
 therapeutic outcome of wilson 's disease significantly depends upon its early recognition . as 
 wilson 's disease is a rare disorder with protean manifestations , its diagnosis and subsequent treatment are often delayed . 
 we elaborate here the case of a young boy who had initially presented with psychiatrc symptoms suggestive of dissociative fugue followed by withdrawn behaviour and was treated by a psychiatrist with minimal response . 
 this was associated with symptoms of tremors , hypersalivation , and slowness of movements . 
 this case highlights the delay in diagnosing wilson 's disease when faced with the case of a young adult with psychiatric manifestations . 
 it is extremely important for physicians , psychiatrists and health professionals at primary care level to recognize and diagnose this treatable disease at an early stage . 
INTRODUCTION
CASE REPORT
DISCUSSION
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