Diagnosis

Question

Hello,
I have a big problem, my son, who is 6 years old, was born in the 27th week of gestation. He had problems with bowel movments from the first day on and was not able to evacuate his meconium. On the third day after his birth the doctors wrote down the following: "Extremely dilated bowel loops, including the stomach. Differential diagnosis paralysis of the bowl, a volvulus as well as a meconium ileus cannot be excluded. In the course of time accentuation of loops with thickening of the wall in the lower abdomen respectively fluid collection in the right middle abdomen, no evidence of NEC (necrotizing enterocolitis) or stenosis."
Furthermore, they wrote about his lungs: "Pneumothorax of the right apex of the lung with beginning mediastinal shift to the left side. Badly aired lungs on both sides otherwise without pathological findings, after drainage complete regression."
At the age of 3 years he had an anal prolaps. Up to now he is not able to evacuate stool without enema or drugs. He has had several colds, however not very striking. He his very small and tiny for his age, so that there has also been the suspicion of hyposomia.
Now we have come over three circuits to the CF-center, there a sweat test has been performed three times, all three test results were borderline. Then, a genetic testing has been performed, that tested for the 30 most frequent mutations. This test has been negative. The doctor in charge said that according to his opinion, the investigation is finished with that.
Now I stand here, my son is still coughing until he vomits, is not able to evacuate his stool and does not thrive. Now my question is, what can I do? It cannot be normal that one coughs like this and cannot go to the toilet? The sweat test results have all three been borderline, the "small" genetic test however negative. Which investigations can I do further?
What do you think about the medical history of my son? I thank you very much for every answer.
Best regards, J.

Answer

Hello,
you report from your now 6-year-old son, who has been born preterm after the 27th week of gestation. Directly after birht the son was apparent with missing evacuation of meconium and extremely distended bowel loops up to the stomach. An additional problem was the occurence of a pneumothorax on the right side, that made a pleural drainage necessary. You report furhter, that your son is only able to evacuate his stool with the help of laxatives. You report your son's gaining height and weight are insufficient, so that already hyposomnia had been suspected. You report, that according to an x-ray on the 3rd day of life the doctors in charge spoke of a paralysis of the small bowel and were not able to exclude securely a volvulus resp. meconium ileus, on the other hand did not see an evidence of stenosis or NEC. In cooperation with a CF-center, three sweat test had been performed, which results were borderline according to your report. A molecularbiological investigation with analysis of the 30 most frequent mutations did not show a mutation. The doctor of the CF center is excluding the diagnosis of CF according to your report. You report furthermore, that your son has recurrent infections of the airways, that are not extreme however, but your son coughs often until he has to vomit.
According to your report of the history of your son I am also convinced that your son does not suffer from CF. The results of the sweat tests (even if we do not know the exact values), the molecularbiological investigation as well as the medical history let me come to this statement. In order to support this, an investigation of the stool (measurement of the elastase I) in order to check the pancreatic function would make sense. It can be expected that the elastase I would be normal. If this would be the case, the problematic evacuation of meconium has no relation to CF, as only CF patients with pancreatic insufficiency show a meconium ileus at birth. Then it could at the same time be proven, that your son's failure to thrive is not caused by an insufficiency of the pancreas.
Then it has to be clarified in cooperation with a special center for children's gastro-enterology, why your son is not able to evacuate stool spontaneously and why he does not thrive sufficiently. Because of the cough until vomiting a reflux disease has to be excluded.
Via the internet you can open the side of the association for pediatric gastroenterology and nutrition (GPGE) [this is a German association, as this question was asked on the German platform]. There you can find the center next to your home.
We wish you much luck and hope to have helped you with this information in your effort for clarification of the problems of your son.
Yours sincerely,
Dr. H.-G. Posselt

14.03.2013