BMJ Case Reports 2018; doi:10.1136/bcr-2018-225119
  • Findings that shed new light on the possible pathogenesis of a disease or an adverse effect

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

  1. Zachary A Cordner3
  1. 1Johns Hopkins School of Medicine, Baltimore, Maryland, USA
  2. 2Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
  3. 3Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
  4. 4Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
  1. Correspondence to Dr Zachary A Cordner, zac{at}
  • Accepted 18 June 2018
  • Published 9 July 2018


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.


  • Contributors All authors contributed to the conception of this work, acquisition, analysis and interpretation of data, drafting of this manuscript and approved the final version of this manuscript. They also agreed to be held accountable for all aspects of this work.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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