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Gradual onset of psychotic symptoms in an adolescent

A 17-year-old male with a history of autism, major depressive disorder and short bowel syndrome presented to the paediatric emergency department (ED) with 6 months of intensifying atypical behaviour. Initially, the patient developed aggression, pressured speech and agitated episodes for which he started quetiapine. Four months later, despite medication adherence, the patient displayed general withdrawal, anger, and suicidal and homicidal ideation, and experienced multiple psychiatric admissions. Two months later, the patient presented to the ED with a 3-day history of acutely increased agitation, insomnia and decreased appetite and verbal communication. Vital signs at presentation included a mildly elevated heart rate of 100 beats/min, blood pressure 104/60 and respiratory rate 20 breaths/min. Pallor and mild agitation were evident, with no other gross neurologic abnormalities, and no associated lymphadenopathy or hepatosplenomegaly. The exam was also significant for a 6.2 kg weight loss in the last 5 months. The family denied fevers, dyspnoea, abdominal pain, diarrhoea, change in urination or rash. The family also denied ingestion, recent illness or trauma. Work up was initiated to identify any underlying medical aetiology for the worsening psychiatric manifestations. Comprehensive metabolic panel, urinalysis, faecal occult blood testing and drug screens were normal. Complete blood count was significant for leukopenia, with white blood count low at 2500/mm and platelets normal at 199000/mm. Complete blood count was also significant for severe anaemia, with haemoglobin and haematocrit 4.1 g/dL and 11.4%, respectively, and elevated mean corpuscular haemoglobin of 100 fL. Abnormal red blood cell indices included an elevated red blood cell distribution width 23.3% (range 11.7–14.9), and low reticulocytes 0.8%. Given the severe anaemia, paediatric haematology recommended amplified testing. Serum folate, iron studies, vitamin E, haemoglobin electrophoresis, porphyrins, G6PD and Coombs were normal. Low levels of B12 60 pg/mL (range 211–911), reticulocytes 0.8% and haptoglobin <8 mg/dL (range 26–185) confirmed severe B12 deficiency and associated anaemia. The patient received subcutaneous B12 and a packed red blood cell transfusion, with no further episodes of agitation during hospitalisation. B12 level at 3 week follow up was 547 pg/ mL. Currently he is receiving B12 injections every 3 months, with no recent ED visits for agitation at our facility.