Unmasking Wilson’s Disease Through Severe Psychiatric Manifestations: A Case Report

TL;DR

A case report shows how Wilson’s disease can initially present as severe psychiatric symptoms, leading to delayed diagnosis and treatment.

Contribution

Highlights the importance of considering Wilson’s disease in psychiatric presentations with neurological and ophthalmologic signs.

Findings

Psychiatric symptoms can be the initial manifestation of Wilson’s disease in young adults.

Early diagnosis and treatment with penicillamine led to clinical improvement.

Extrapyramidal signs and Kayser-Fleischer rings were key indicators of the disease.

Abstract

Wilson’s disease is an inherited disorder of copper homeostasis with highly variable clinical expression. In some patients, psychiatric syndromes dominate the early disease course and divert diagnostic reasoning toward primary mental illness, delaying etiologic treatment.

A 38-year-old woman was brought to the emergency department by police with onset of behavior change characterized by public disinhibition and intense motor agitation. Initial complete neurological assessment was limited by the presence of severe dysarthria. After initial treatment, the neurological evaluation disclosed the presence of extrapyramidal clinical manifestations. The presence of rings around the cornea was also documented on the ophthalmological examination. Laboratory studies revealed thrombocytopenia, mild aminotransferase elevation, profoundly reduced ceruloplasmin, and low serum copper. Brain magnetic resonance imaging demonstrated bilateral basal ganglia and thalamic hyperintensity with extension into the brainstem. Ophthalmologic slit-lamp examination confirmed the presence of Kayser-Fleischer rings, and molecular analysis identified a pathogenic ATP7B variant. Treatment with penicillamine combined with psychiatric stabilization was followed by gradual clinical improvement over subsequent weeks.

Acute behavioral and psychotic syndromes may represent the leading manifestation of Wilson’s disease. In young adults presenting with atypical psychiatric disturbances accompanied by dysarthria, extrapyramidal signs, and ophthalmologic abnormalities. High suspicion led to the diagnosis of Wilson’s disease, with early treatment leading to progressive improvement.

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