Infantile hypertrophic pyloric stenosis in monozygotic twins: a case report and review of genetic and modifiable risk factors

Abstract

Infantile hypertrophic pyloric stenosis is the most common surgical pathology resulting in emesis presenting in infancy and is usually encountered between the second and eighth weeks of life. It is the most common indication for surgery in infants less than 1 month of age. Prior to the pyloromyotomy developed by Ramstedt in 1911, the mortality for the condition exceeded 50%. Current epidemiologic data indicate that the ailment affects between two and five infants per 1000 live births. Despite the incidence of the condition, the etiologic factors, genetic or environmental, have yet to be clearly elucidated. The incidence in twins has been previously described and noted to be nearly 200 times higher in monozygotic twins. The incidence in dizygotic twins is similar to that between siblings, but nearly 30 and 20 times higher than that of the general population, respectively. This observation continues to stress the importance of genetics in the development of pyloric hypertrophy. Presented here are two cases of idiopathic infantile hypertrophic pyloric stenosis in monozygotic twins with a review of the literature of both genetic and environmental predisposing factors.

Keywords: genetics, hypertrophic pyloric stenosis, review, risk factors, twins