Schizophrenia and papillary thyroid carcinoma in an adolescent female with 22q11.2 deletion syndrome.

BMJ Case Rep

Psychiatry, Austin Health, Heidelberg, Victoria, Australia.

Published: August 2024

AI Article Synopsis

  • 22q11.2 deletion syndrome is a complex genetic condition that often presents with various health issues, including an increased risk of psychosis and potentially cancer.
  • A case study highlights an adolescent girl who experienced severe psychosis early on but was only diagnosed with the syndrome in late adolescence, at which point she was also found to have thyroid cancer.
  • This case adds to the limited research on how to manage psychosis linked to 22q11.2 deletion syndrome and points to the need for awareness about its possible association with cancer.

Article Abstract

22q11.2 deletion syndrome is a condition with complex multisystem involvement, and many clinicians will encounter patients living with the condition. 22q11.2 deletion syndrome is known to significantly increase the risk of psychosis, and there is some emerging evidence that 22q11.2 deletion syndrome may be associated with an increased risk of malignancy. We report on a case of an adolescent female who had a delayed diagnosis of 22q11.2 deletion syndrome after she developed severe psychosis at an early age. She was subsequently diagnosed in late adolescence with papillary thyroid carcinoma. This case contributes to the limited body of evidence regarding the treatment of psychosis secondary to 22q11.2 deletion syndrome and the potential increased risk of malignancy associated with the genetic condition.

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Source
http://dx.doi.org/10.1136/bcr-2023-259117DOI Listing

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