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 LuWeiyi MuLauren M OsborneZachary A CordnerPublished in: BMJ case reports (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.
Keyphrases
- obsessive compulsive disorder
- intellectual disability
- autism spectrum disorder
- high dose
- deep brain stimulation
- early onset
- attention deficit hyperactivity disorder
- low dose
- case report
- stem cell transplantation
- human health
- genome wide
- copy number
- risk assessment
- weight loss
- physical activity
- palliative care
- drinking water
- health information
- drug induced
- binding protein
- sleep quality
- gene expression
- small molecule
- social media
- anti inflammatory
- heavy metals
- smoking cessation
- health risk