Case Presentation: A 27-year-old man with no known medical history was brought in by his family for progressive personality change and worsening insomnia. Three months prior to presentation, the patient had begun skipping coursework for his PhD program, and was noted to have new outbursts of unprovoked anger and impulsivity.
On presentation, he was oddly related, with rapid, tangential speech. Physical examination was grossly normal. Toxicology screen was negative and initial medical workup was largely unremarkable, though labs did demonstrate mild transaminase elevations and thrombocytopenia. A head CT conducted in the ED showed possible remote injury to the lenticular nuclei, and an MRI was ordered for further evaluation, but did not occur until one week later. The patient was admitted to the psychiatry service with a diagnosis of new psychosis, and after one week on on risperidone, had not significantly improved.
On hospital day nine, an MRI revealed subacute bilateral basal ganglia hemorrhagic necrosis, concerning for hepatolenticular degeneration or aceruloplasminemia. Further testing revealed low ceruloplasmin and non-ceruloplasmin bound serum copper. Confirming the diagnosis of Wilson’s disease was an elevated 24-hour urinary copper and Kayser-Fleischer rings on ophthalmologic evaluation. An abdominal ultrasound demonstrated a cirrhotic liver with associated splenomegaly and mild ascites.
Discussion: Studies estimate that between 7 and 60% of psychosis is due to underlying medical pathology. However, the spectrum of physiologic disease that may present as psychosis is vast, ranging from paraneoplastic syndromes to endocrinopathies and metabolic disorders, making it challenging to balance the need for thorough evaluation with considerations of resource utilization and pre-test probability. Newly-published consensus recommendations highlight the value of a careful history and physical exam, which in most instances provides sufficient cues to guide further workup. All agree that new-onset psychosis, cognitive deficits, delirium, or positivity on review of systems should prompt further testing. It is likely that consistent implementation of this approach would improve hospital triage and time-to-treatment for those with medical etiologies of their psychosis.
Conclusions: Despite their prevalence, underlying medical etiologies of psychosis are often insufficiently assessed, leading to delays in appropriate diagnosis and treatment. As in this patient ultimately diagnosed with Wilson’s disease, a thorough neurocognitive evaluation and careful attention to any anomalies on basic medical workup are warranted for all new psychiatric presentations.