Who are we?
Sofia Douzgou, MD, PhD, FRCP
Where do we work?
Haukeland University Hospital, Bergen, Norway
How do we see people?
In regular and virtual genetic clinics.
What inspired this article?
Myhre syndrome is rare and there is still much to be understood about both the range of symptoms and their development (pathophysiology). There may well be symptoms of the syndrome that are currently unknown and will only become apparent as the patients age.
What is the name of the article?
“Severe constipation in a patient with Myhre syndrome: a case report “
What is the name of the journal?
Clinical Dysmorphology, 2016
What is the historical context?
Constipation has been described in the medical literature in a few individuals with Myhre syndrome (Lindor et al., 2012, Michot et al., 20149. A single individual had constipation linked to Hirschsprung’s disease (Caputo et al., 2012).
In general, the prevalence of constipation in children with severe learning difficulties has been estimated at 26–50% (Sullivan, 2008) compared with the prevalence in the general paediatric population of ∼12% (Mugie et al., 2011).
What is important?
It is possible that as constipation is not one of the main features of Myhre Syndrome, it could go unreported. Particularly as the affected individual we described was not manifesting any of the skeletal signs that are typically associated with Myhre syndrome by 7 years of age. The implication is that there may be a degree of variability in the initial or early presentation of Myhre syndrome, which illustrates the challenge of diagnosing this rare condition.
What has been the impact?
Although we are now aware of reports and many more anecdotal reports of constipation in affected individuals, it is difficult to determine whether this is directly related to Myhre syndrome, or autism. Further, similar observations are necessary to draw a safe conclusion about how to best manage this. However, clinicians should enquire about constipation and have a low threshold for treatment to prevent complications and maximize the quality of life for affected individuals and their families.