Patients with Trisomy 21 (Down's Syndrome) have an increased risk for developing Hirschsprung's disease (according to Arnold et al the risk is 40 times that of normal peers)..


The patient may present with:

(1) neonatal intestinal obstruction

(2) enterocolitis

(3) chronic constipation

(4) meconium plug syndrome

(5) imperforate anus


Constipation may be ascribed to:

(1) hypothyroidism

(2) intestinal malformations

(3) hypotonia


In addition, cardiac or other malformations may overshadow seemingly minor bowel complaints. It is important to consider Hirschsprung diseaes in any patient with Down's syndrome who presents intestinal complaints.


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