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Endgames

Case Report

A man with congenital abnormalities and psychotic symptoms

BMJ

2008; 337 doi: 10.1136/bmj.a2706 (Published 10 December 2008)

Cite this as: BMJ 2008;337:a2706

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.

Questions

1 What is his possible diagnosis?
2 How would you set about confirming the diagnosis?
3 How would this affect your management plan?

Answers

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) …