Is infant pyloric stenosis linked with other conditions?

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!

6 thoughts on “Is infant pyloric stenosis linked with other conditions?

  1. Wendy

    Now I see what my pediatrician was probably referring to when he said to my mother as I lay on the examining table as a toddler, “Maybe when she’s 50.” She had asked him whether I would have any stomach problems when I got older due to my early PS. His answer was probably referring to any one of the gastrointestinal disorders that you mentioned, Fred. I just wish he hadn’t said it to my mother in front of me, for though I was only a year old, I worried deeply about developing a PS-related stomach problem for 5 decades! Lucky for me, I never had any major stomach illnesses after the PS surgery at three weeks old.

  2. Fred Vanderbom Post author

    Conditions such as those mentioned in this post have been found to come with pyloric stenosis through defective genes or “environmental” conditions. Your pediatrician may also have been thinking of the problems that can result from the actual surgery, about which I have written in other posts: a hernia, adhesions, irritable bowel syndrome, or reflux, any of which may develop soon after the surgery or become evident at any time in later life, but especially as our bodies start to age more rapidly.
    You are right about this doctor: especially in light of what we know now, he was speaking very hypothetically and he was unwise to say this to somebody like an anxious mother and in front of her small child.
    Congratulations, though, as you have been able to put that big anxiety about a known unknown well behind you now.

  3. Andy

    As someone who had pyloric stenosis in the early 1960s and was operated for it I do wonder if it, or the operation, is related to the most of my life that has been spent in a social blank – or at least a sense of social detachment and lack of connection to other people, and what they do, and how they get on with each other, and so on….

    I say the operation because of interest elsewhere in gut flora and the effect that can have on health. Can the operation itself introduce the “wrong” bacteria into the developing gut of a baby and can this cause problems down the line?

    It is only since I went on a dairy free diet nearly 3 years ago (after being gluten free for nearly 15 years – brain fog+hyperacidity+cramping) that some sort of “awareness” emerged. I’m still changing and feel like I’m getting the life I “should” have had as a teenager, perhaps. I suppose it’s only now that I’m scratching the surface of being an adult and being a “person” with a sense of identity for what I want to do and what life may mean.

  4. Fred Vanderbom Post author

    Andy, my fairly extensive reading about matter related to PS has not unearthed anything quite like what you report here. Certainly, the operation should not actually open the gut: the Ramstedt technique disables the pyloric muscle ring but leaves the mucosa (inner lining) intact. If as easily happens it is breached it should have been repaired immediately.
    What you describe could also possibly be seen as a disorder in the autism spectrum, and there are certainly many stories on the web from parents who wonder about a link between PS and autism. I have some traces of this – but who doesn’t? The very early and severe starvation that often comes with PS can affect the brain, and our brain’s social functions are among those listed as possibly affected by this. So I have long blamed my social quirks (or difficulties) on my PS. But now one of my grandsons has more severe problems than I have and is being assessed for ADD and ASD.
    My blogging friend Wendy has been reading about the effect of brain damage on our genes, so although my grandson has not had PS, could he have inherited damage from me in this area? Who knows? One day we may all have a detailed personal map of our chromosomes, but not yet!
    My wife gets a foggy mind from dietary problems; she has had no early surgery or starvation.
    As the years pass I’m increasingly realising how complex we all are and how little we know about many aspects of our body and mind. I am cultivating an inquisitive, open and learning mind about who I am and how I function best.
    Best wishes!

  5. macey

    Thank you for this blog. My daughter last year at 2 weeks 4 days old was diagnosed with Pyloric Stenosis and Intestinal (aka. Bowel) Malrotation. She had to have 2 surgeries because the 1st surgery for the Pyloric was unsuccessful so the 2nd surgery had to be done and during the 2nd surgery they not only fixed the Pyloric successfully this time but also fixed her Malrotation and removed her Appendix (her appendix was located on the wrong part of her body due to having an twisted anatomy).

    I don’t know anyone else who has had these experiences, but I would like to know what her future would be if she grows up if she would have any stomach and/or bowel issues due to what she had.

    1. Fred Vanderbom Post author

      Macey, I do hope you get some feedback to your question, although Facebook’s PS forums (and others like Patient and Topix) would see more traffic than my little blog! Your daughter is one of the unlucky ones who not only had PS but also one or two of a list of abdominal and chest conditions (sometimes called “midline defects”) that sometimes come together with PS. I have not read of any inevitable long-term problems that come with any of the three issues you mention, but both PS and Malrotation can continue to trouble people; of course my knowledge of such things is not professional but I have read much on this subject area! And the pro’s always get it right either. Anecdotally, I have a relative whose abdominal parts were mirroring what’s usual (I think this was discovered when they couldn’t find her troublesome appendix), she is now in her 60s and has had no problems from this that I know of, although her inherited colitis has been a serious lifelong problem. Stay watchful for your little girl!


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