First episode psychosis in an adult patient with tuberous sclerosis

To the Editor

Tuberous sclerosis (TSC) is an autosomal-dominant, neurocutaneous, multi-system disorder characterised by the triad of adenoma sebaceum, epilepsy and developmental delay (DiMario, 2015; Ropper et al., 2014). Incidence is approximated to be between 1:5000 and 1:10,000 live births.

While the existing literature reports relationships with autism, seizure disorders and intellectual impairment, reports of neuropsychiatric manifestations are relatively scarce, comprising mostly individual case reports.

We report the case of a 50-year-old woman with established TSC, who presented with first-episode psychosis. Our patient self-presented to a metropolitan emergency department with worsening psychotic symptoms over a 6-month period. She had no formal psychiatric history including experiences suggestive of psychosis or mania. Cumulative multi-organ involvement of TSC over decades included childhood epilepsy, resection of cerebral gliomas and respiratory and renal pathology necessitating transplantation. On presentation, there had been no recent changes in her immunomodulation medications or low-dose prednisolone therapy. There were no other organic causes of psychosis found during clinical examination or laboratory and cerebral imaging studies.

On assessment, the patient reported increasingly loud and distressing noises of her neighbours engaged in sexual activity. She heard and believed other neighbours were staging public protests against the perpetrators. She heard a brother speaking to her from overseas. Two days prior, a television broadcast convinced her she was a European royal. Her affect was irritable, elevated and agitated. Cognition was intact. She adamantly rejected psychosis as an explanation for her symptoms. With assertive treatment, her symptoms resolved over the next 10 or so days with olanzapine therapy.

The most commonly reported psychiatric manifestations in TSC are depression, anxiety, attention-deficit and hyperactivity disorder and aggressive/disruptive disorders (Muzykewicz et al., 2007). Case reports describe presentations of psychosis, eating disorders, obsessive–compulsive symptoms and bipolar disorder. A retrospective cohort study found 66% of 241 patients with TSC registered at least one psychiatric symptom. Anxiety was particularly common. In terms of neuropsychiatric manifestations, the available literature has hitherto focussed on autism, seizure disorders and intellectual disability. Psychiatric symptoms are commonplace in these conditions, which add to the complexity in delineating aetiology and phenomenology. For persons living with TSC, co-existing intellectual disability and epilepsy are considered a risk factor for pervasive developmental disorders.

In light of the relative paucity of literature describing psychosis in TSC and its management, this case serves as a reminder that psychosis can manifest in TSC and provides an overview of this rare but significant disorder with systemic implications.