Eighteen-year-old man with autism, obsessive compulsive disorder and a SHANK2 variant presents with severe anorexia that responds to high-dose fluoxetine

Zhen A. Lu, Weiyi Mu, Lauren M. Osborne, Zachary A. Cordner

Research output: Contribution to journalArticle

Abstract

The SHANK2 gene codes for a protein involved in organising the postsynaptic density and disruptions have been associated with autism spectrum disorders (ASDs). ASDs are frequently comorbid with intellectual disability and anxiety disorders and emerging evidence suggests potentially common aetiologies. Here, we report the case of an 18-year-old man with ASD who presented with severe anorexia due to fear of food contamination, food avoidance and stereotypies attributable to underlying obsessive compulsive disorder (OCD). The patient was found to be heterozygous for c.2518C>T (p.Pro840Ser), a likely damaging coding variant in the proline rich region of SHANK2. Interestingly, the patient's disordered eating behaviour began to improve only after high-dose fluoxetine was initiated to target OCD symptoms. Overall, this case highlights the utility of molecular genetic testing in clinical psychiatry and provides an example of how genetic information can inform clinicians in the treatment of complex neuropsychiatric syndromes.

Original languageEnglish (US)
Article numberbcr-2018-225119
JournalBMJ case reports
Volume2018
DOIs
StatePublished - 2018

Keywords

  • anxiety disorders (including ocd and ptsd)
  • drugs: psychiatry
  • eating disorders
  • genetic screening / counselling
  • psychiatry

ASJC Scopus subject areas

  • Medicine(all)

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