The clue in the face: An unusual first episode psychosis presentation

To the Editor

A 23-year-old female presented with delusional thoughts, ideas of reference and bizarre behaviour after significant stress at work. She believed that her mother and friends wanted to have sex with her. She had ideas of reference stating that people were pulling faces and scratching their bottoms towards her, which indicated they wanted to have sex with her. These experiences made her increasingly anxious and she left employment. She denied any perceptual abnormalities or external interference with her thoughts. According to her parents, she struggled academically at school and received learning support; however, she was never formally diagnosed with a learning disability. Her parents also reported that she had always struggled with anxiety and hyperacusis, e.g. when cars go past. Physical examination noted mildly dysmorphic facies: prominent jaw and facial asymmetry. Medical history was of recurrent urinary tract infections in childhood and left renal agenesis. Recent investigations demonstrated persistent pancytopenia and a mildly reduced calcium. A brain magnetic resonance imaging (MRI) described early atrophic cerebral changes and a prominent pituitary gland.

Her symptoms responded to a gradually titrated 800 mg of quetiapine. The physical examination and medical history raised the suspicion of an organic cause. Genetic testing revealed a 22q11 deletion. No other cases of 22q11 deletion were found in the immediate family members.

22q11 deletion syndrome is also known as Di George syndrome, and while it is a recognised cause of psychosis with up to 25% of patients developing schizophrenia, it is typically diagnosed in childhood following physical health complaints (McDonald-McGinn et al., 2013). Interestingly, this patient had not presented to paediatric services and did not have a learning disability diagnosis, but instead was diagnosed with 22q11 deletion syndrome following contact with the early intervention in psychosis team during her first psychotic episode. This is an unusual presentation, and psychiatrists should consider such organic causes of psychosis. Minor facial anomalies are the commonest finding in 22q11 deletion syndrome, and it was this that alerted the team to the possible diagnosis (Cohen et al., 1999). Making this diagnosis is crucial to ensure physical complaints are addressed in addition to optimal psychiatric management. Knowledge of the ongoing physical health problems, such as pancytopenia and possible cardiac anomalies, is important when considering antipsychotic therapy (Fung et al., 2015). Consideration should be given to how psychiatric services access and counsel for possible genetic abnormalities.