Neuropsychiatric manifestations of Wilson's disease in adolescents: Red flag signs and barriers to treatment

Abstract

Psychiatric manifestations in adolescents are often misattributed to developmental or psychosocial stressors, especially in limited-resource settings. Wilson’s disease (WD), a rare autosomal recessive disorder of copper metabolism, may present solely with psychiatric symptoms, delaying diagnosis and worsening prognosis. We report two cases of a 14-year-old girl and a 17-year-old boy from rural Odisha, who presented with psychotic and behavioral symptoms, eventually diagnosed with WD. In this case series, we have discussed on the barriers to diagnosis and the early red flag signs suggestive of a neurological pathology of such symptoms. Case 1: A 14-year-old female, with previously good academic performance and normal social development, presented with a 9-month history of fearfulness, crying spells, poor appetite, school refusal, and behavioral regression. She was initially misdiagnosed as having a major mental disease, showed signs of psychomotor slowness, mutism, and poor attentiveness, and responded somewhat to antipsychotic medication before getting worse once again. WD was confirmed by a thorough medical examination that showed a Kayser–Fleischer (KF) ring on slit-lamp examination and low serum ceruloplasmin (24 mg/dL). Case 2: A 17-year-old male from a rural background with nil contributory past, family, and personal history presented with insidious onset continuous course and deteriorating progress of 1½-year history of irrelevant talk, muttering to self, suspiciousness, and impulsive behavior provisionally diagnosed as a case of psychosis unspecified and treated with tablet olanzapine 5 mg/day. After few days, he presented with extrapyramidal symptoms such as bradykinesia and generalized rigidity which did not resolve on adding tablet trihexyphenidyl 6 mg/day or discontinuing antipsychotic. His urinary copper was high, serum ceruloplasmin – 0.1 g/dl (normal > 0.2 g/dl), and KF ring was positive. The patient was given the diagnosis of WD and was prescribed tablet penicillamine 500 mg/day. In conclusion, these two cases explain how vital it is to take metabolic factors into consideration when adolescent patients present with psychiatric signs and symptoms, especially in clinical settings with limited resources. This study also highlights the necessity of collaborative pediatric, neurologic, and psychiatric care in unusual psychiatric presentation.