Pyloric stenosis in babies (“PS”) is the most frequent reason for infant surgery apart from elective circumcision and hernias (which rarely need immediate repair in infants).
What causes PS? There seem to be two main areas of reasons, each not fully understood, but several things have become clear.
Pyloric stenosis can have either an environmental or a genetic cause, and when occurring together these two will raise the likelihood of PS even more. Prof. Ian Rogers has proposed that PS in babies can be satisfactorily explained as being caused by an unusual rise of gastric acid in the infant’s digestive tract shortly after birth working together with its feeding regime. The triggers for this acid increase affecting the babys’ pyloric region have also been located in their gene map.
Is PS linked other conditions and malformations of infancy?
This question is asked on several forum sites, usually with a rather vague answer, and I was also asked this recently.
Several statistical studies have shown that PS sometimes does come with other conditions, some of them showing up (like PS) soon after birth, and others in the infant’s later life.
One report states that about 7% of PS babies will also have another condition such as intestinal malrotation, a urinary tract obstruction, or esophageal atresia, which are also caused by chromosome abnormalities caused conditions. Another report puts the incidence of other problem conditions in a PS baby at between 6 and 20%. Heart abnormalities must also be added to this list, and also on it are rarer genetic and gastro syndromes such as Smith-Lemli-Opitz and Cornelia de Lange, and Turner’s syndrome, a rare abnormality in the X chromosome of females that leaves them infertile. A rare association with developmental delay has also been reported.
Other gastro-intestinal conditions more common in PS infants which are later in developing include Crohn’s disease, colitis, irritable bowel syndrome (IBS), and stomach and duodenal ulcers.
Hernias were prominent among the conditions which PS babies suffered in greater numbers in a large study published in 1974 of all 107,244 babies born in Belfast, Northern Ireland in the 13 years 1957-69 which included 289 babies PS who had surgery for PS. It found a list of associated conditions which were very diverse and varied in severity. Twelve had an inguinal (groin) hernia (likely caused by PS’ extreme vomiting) and five infants had a hiatus hernia, about ten times more than usual: the stomach’s upper muscle is defective, extending the stomach into the chest and causing reflux. Two children had phenylketonuria or PKU, a genetic and inherited disorder when the body cannot break down a substance in food called phenylalanine; if left untreated, this changes cells inside the brain and can lead to mental retardation.
Autism Spectrum Disorders (ASD) are developmental abnormalities that include Autism and Asperger’s syndrome. As reported by one study and noted by another, children with ASD have a higher rate of gastro-intestinal abnormalities including PS than normal. However, I have been able to find only a little statistical support for this finding, and some doubt. However, parents on several forum sites have commented on the apparent frequency of PS in their ASD-affected children. One mother, Ann, commented in 2009: My autistic daughter had pyloric stenosis at three weeks and had to have surgery to fix it. That was back in 1992, and a couple years later a specialist said there seem to be a higher incidence of that problem in the autistic population.
Genitourinary anomalies have also been associated with PS. One study found that in a series of 64 patients investigated by intravenous pyelography (kidney study), 13 were abnormal (20.6%). In another series of 232 patients, 6 had abnormalities of the upper urinary tract (2.7%)… In this latter series the incidence of inguinal hernia (3.4%), undescended testes (3.0%), and hypospadias (0.9%) was determined. In another 10 patients urinary tract anomalies (5), urinary infection (2), and a significant family history (3) were found associated with congenital pyloric stenosis. As the incidence of these anomalies is greater than expected, which suggests an interrelationship, a hypothesis has been proposed linking genetic factors and the metabolism of gastrin with the etiology of congenital hypertrophic pyloric stenosis.
It needs to be remembered that although the genetic, environmental and statistical studies of PS and its associated risks are very useful and quite indicative, they are still far from exhaustive.
The environmental factors and mechanical factors in the development of PS are mentioned on almost every book and web page dealing with PS. They include a few factors which can be linked with other risks as well as PS: the sleeping position and maternal smoking have each been shown to have a clear association with both Sudden Infant Death Syndrome (SIDS) and PS.
What can we learn?
Dr Ian Rogers and others have shown that most cases infant pyloric stenosis can be managed and overcome without surgery. The agony of SIDS can also be almost eliminated by careful management.
However, this would not seem to be true of most of the genetic and developmental abnormalities and conditions that can affect us – both in our infancy and as we grow up.
Parents with a PS baby would do well to read up on this subject for themselves (here and elsewhere) and to strive to manage their baby’s nursing and possible PS by a careful feeding regime and if necessary, medically – before signing up with the surgeon.
This may well reduce the amount of pain and trauma your child has to endure through their life!