Patient's Query
Hi doctor,
My 18-month-old daughter has had problems since birth, and I am desperate for a second opinion. The history is complicated, trying to explain the symptoms, but I will do my best. Polyhydramnios was detected in pregnancy. My daughter was born at 36 weeks 4 days through emergency C-section due to pre-eclampsia. Her weight was 109.64 oz. The NG tube was passed three times due to polyhydramnios. We went home on day two. Readmitted on day five for phototherapy. Till 4 months of age, several visits with the health visitor and GP for colic-like symptoms and constipation. She will scream in pain when opening her bowels every four to five days. Over this time, they tried Colief, Infacol, Lactulose, Glycerin suppositories, Ranitidine, Gaviscon, and Domperidone, nine different formulas, and we also tried all common natural remedies for reflux, like keeping upright after feeding, etc.
No alleviation of symptoms at all, except glycerin suppositories, which did seem to help the constipation. In 8 months pediatric consultant suggests functional constipation and recommends a higher dose of Lactulose and Movicol for 16 weeks. He suggested that we are giving her too many glycerin suppositories and that this is making her dependent on glycerin to open her bowels. And so Glycerin was stopped. We delayed weaning whilst waiting for an appointment. At this point, her symptoms completely changed to intermittent diarrhea and constipation, bowel frequency increased to once a day, colic-like pain, and she did not start vomiting until the consistency of the food moved up to a more solid consistency.
The laxatives made absolutely no difference. In her 10 months of age the constipation has turned to diarrhea. The doctor is happy that it was functional constipation and discharged her. At 11 months, she had first acute episode of chronic diarrhea and forceful vomiting lasted for 16 days which coincides with the introduction of cow's milk. During 11-14 months of age she was introduced to solid food. Chronic forceful vomiting which does not seem to follow any pattern. A food diary is followed for several weeks and there does not seem to be any consistent non-IgE allergy as a cause. During her 14 months of age we had an appointment with dietician and switched from normal formula to Pepti and then Neocate. Her chronic wheeze disappears overnight but chronic vomiting continues. She troubleshoots overfeeding as a cause. We are feeding her more as she is vomiting. When we did not substitute the feeds she lost weight. So, if she vomited a feed we gave her another one hour later, we fed her small quantities throughout the day to try and prevent vomiting. Again in 15 months consulted her dietician and he suggested definite non-IgE cow's milk protein allergy and to try trial and error with the other three common allergies- soy, wheat, and dairy. So, then for a month, we followed a strict elimination of those three. This month, she had only Neocate liquid diet plus corn snacks (Organix) and one paella meal. Symptoms improved, but sporadic forceful vomiting remains. She tolerated only one baby paella meal well, which is overcooked rice with a very mushy consistency. Now again, we attempted to challenge the three foods back in and move beyond this one meal. All attempts failed. Her reaction to us seems to be much more about the consistency of the food rather than what the food is. She can tolerate a large amount of breadcrumbs, but cannot tolerate a piece of toast. We continue with the food diary, and there really is no clear pattern that isolates one food.
Again at her 17-month age, when we consulted her dietician, he was unsure whether the symptoms fit FPIES at all and suggests gastro referral. Then she had a second acute episode. We went to A&E on day five and were sent home with a suggestion of gastroenteritis. Chronic vomiting and diarrhea lasted 15 days. She lost 10% of her body weight. Sent home on Neocate as the only diet. But there is no evidence of gagging, choking, or problem swallowing. No fussing or wriggling during feeding. Four months back, her weight was 12.3 kg, and now 10.9 kg. Her barium X-ray showed mild malrotation, but at MDT, it was decided this was not an explanation for the symptoms. We have recently tried Omeprazole to rule out severe reflux, and it made no change. Genetic blood tests, kidney, and abdominal ultrasound were normal.
For us, her symptoms now are identical to what they were like before the onset of weaning. Again, she is suffering from intermittent colic pain and constipation, but there is no vomiting. She is not sleeping well at all. We have increased her water intake and added Lactulose, and the stools are no longer hard, but she still seems uncomfortable. Stools are very dark green. We have tried a couple of solids.
She prefers crunchy food. She tolerates corn-based crisps as they basically dissolve into crumbs in your mouth. We tried peas, grapes, and she passed all of the peas, grapes, and beans completely undigested in her feces. Without solids, she does not sleep well at all because the Neocate just does not fill her up for long enough, and so she is screaming all night because she is hungry. So, we tried a few solids, and she is still screaming half the night with colic-like pain. She is clearly in pain because she is absolutely screaming. She is pretty inconsolable, but the only thing that does relieve it is sucking on something like a bottle of water. She is waking up about every 20 to 30 minutes throughout the night. During the day, she still has this colic like symptoms, and she is tired, clingy, and uninterested in playing. She does tend to have one to two hours a day of good time, where she will play happily. A month back, we had a consultation with SLT. Her elder sister is under SLT.
Kindly help.
Hi,
Welcome to icliniq.com.
1. All these episode are quite disturbing the baby. But the things are meshed together, at a point of time we need to stay on one diagnosis rather than jumping to one another.
2. One thing is common here in each episode, she has severe constipation and intermittent diarrhea. See, this kind of manifestation occur with hirschsprung disease (absence of nerve cells in the large intestine).
3. Although there are other possibility of some energy depleted disorders, for example GSD (glycogen storage disease), because she has history of repeated feeding and irritability if not fed.
4. Here this baby has multiple problems; in spite of her normal birth weight there is failure to thrive.
5. I am stuck in two things here, one is GSD and another one is hirschprung disease. All these possibilities are based on history, these may change after investigation and you have not given any file for that.
6. The crux is, we should go ahead with these two diagnoses and need to see the reports of the investigation done already.
7. Although you have done barium x-ray, but this is upper GI barium (gastro intestinal). We need to do lower one also.
8. The issue about CMPA (cow's milk protein allergy), it could be there but the thing is we need to exclude other treatable disorders.
9. To make a diagnosis of CMPA we need biopsy of the intestinal tract and rechallenge therapy after some time when symptoms subside on cow's milk protein free diet.
The Probable causes
Investigations to be done
Treatment plan
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Answered byDr. Babu Lal Meena
Medically reviewed byiCliniq medical review team
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