Intended for healthcare professionals

Endgames Case Report

A man with congenital abnormalities and psychotic symptoms

BMJ 2008; 337 doi: (Published 11 December 2008) Cite this as: BMJ 2008;337:a2706
  1. Toral Thomas, specialist trainee1,
  2. Balasubramanian Saravanan, specialist registrar and research psychiatrist12,
  3. Fiona Blake, consultant psychiatrist1
  1. 1Fulbourn Hospital, Cambridgeshire and Peterborough NHS Foundation Trust, Cambridge CB21 5EF
  2. 2Institute of Psychiatry, King’s College, London
  1. Correspondence to: T Thomas toral.thomas{at}

    Case history

    A white man in his 20s came to the attention of psychiatric services because of repeated acts of genital mutilation, often in the context of alcohol and opiate abuse. He first presented in his late teens with psychotic symptoms, which included persecutory, somatic, and bizarre delusions, and he had attracted a variety of diagnoses. However, these assessments seem to have been clouded by his longstanding use of illicit substances.

    He had been born with a cleft palate and showed developmental delay, particularly of speech. His family struggled with his behaviour. He could not cope with mainstream schooling, and early records noted an IQ of 68, indicating a mild learning disability.


    • 1 What is his possible diagnosis?

    • 2 How would you set about confirming the diagnosis?

    • 3 How would this affect your management plan?


    Short answers

    • 1 Patients with schizophrenic symptoms with a history of delayed motor development, early onset of the disorder, history of learning disability, history of cleft palate, or hypernasal speech should be screened for the velocardiofacial syndrome (VCFS) deletion.

    • 2 With a variable clinical presentation, genetic testing (with patient consent) …

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