33 First episode psychosis in a patient with extensive leukoencephalopathy due to 3-methylglutaconic aciduria type 4

Abstract

Objectives/Aims This aim of case report is to discuss the clinical conundrum and diagnostic challenges in a young patient presenting with First Episode Psychosis. Investigations revealed Extensive Leukoencephalopathy due to a rare metabolic disorder- 3-methyloglutaconic aciduria (3-MGA) type IV. Several studies have shown that 3-MGA type IV can present with psychosis, epilepsy or depression as part of the spectrum of symptoms. The role of Organic Brain condition in the onset of first episode psychosis in this patient is discussed in this report. Methods A 23-year-old female presented with insidious onset of paranoid delusions and auditory hallucinations over an 18 month period on a background of a diagnosis of 3-methylgutaconic aciduria type IV confirmed on urine testing. On admission under Section 2 of the Mental Health Act, she expressed little spontaneous speech and echolalia. She was flat in affect. She appeared vacant in expression, stared inappropriately and was very self-isolating. She was responding to external stimuli. She lacked insight into her condition. Physical examination was unremarkable. An MRI brain scan was performed, and comparison made to scan done previously to demonstrate any interval change and to correlate changes if present to deterioration of clinical symptoms. Results MRI scan showed extensive diffuse leukoencephalopathy. Comparison to MRI scan done 6 years previously did not show any change or progression to the white matter lesions. An EEG showed a mild degree of general cerebral dysfunction with no interictal epileptiform activity. There was no correlation found between her clinical symptoms of acute onset psychosis and her diagnosis of 3-MGA Type IV. She was commenced on Aripiprazole and her presentation improved significantly. Both Auditory hallucinations and Paranoid delusions improved considerably, with moderate improvement in mood, affect and apathy. Some Catatonic symptoms persisted but were less intense. She was given a diagnosis of Undifferentiated Schizophrenia under ICD 10, as she displayed features of Paranoid, Hebephrenic and Catatonic without clear predominance of particular subtype of Schizophrenia. She was discharged home with follow-up from Neuropsychiatry and community Mental health teams. She continues to be investigated for the genetic cause of 3-methylglucatonic aciduria Type 4. Conclusions To conclude, although often metabolic disorders, including 3-methylglucaconic aciduria, can present with psychosis, it is prudent to establish a causative link in order to manage appropriately and effectively.