UPDATE: Gut dysmotility in 2-year-old girl with presumed genetic condition

Dr Grace Ng provides a summary and an update on last month’s case.

Transcript

Hi everyone! Thank you for participating in the discussion for this case. I would like to summarize the contributions and learning points.

Firstly, it is important to define the problem and identify the likely causes of the patient’s symptoms. In patient J’s case, her symptoms are likely multifactorial, due to:

  • Brain-gut axis / myoelectrical gut activity dysfunction
  • Autonomic dysfunction
  • Visceral hyperalgesia (fundoplication, cardiac surgery) / Central neuropathic pain

Identifying clearly what the likely causes are would be helpful in choosing appropriate interventions and therapeutics.

Secondly, possible contributory factors should be reviewed. This includes reviewing existing medications and whether drugs that could exacerbate the problem need to be titrated. In this case, anti-epileptic drugs were identified as a possible contributory factor. Also, the type of feeds would need to be reviewed. For example, high osmolarity of certain formulas can contribute to feed intolerance.

Many helpful suggestions were given with regards to interventions that could be explored for patient J. These could be categorized into pharmacological, non-pharmacological and procedural.

Medications were chosen based on the symptom presentation and the underlying cause identified. If constipation was a predominant problem, then optimizing the dose of existing laxatives, using a combination of osmotic and stimulant laxatives would help.

Gabapentin or pregabalin would be helpful in treating visceral hyperalgesia and central neuropathic pain, suggested by pain, irritability, dystonia associated with feedings, which is what we saw in Patient J’s case. These medications can help with weight gain as they improve feed tolerance, reduce associated emesis and intermittent muscle tensing triggered by pain and subsequent reduction in hyper-metabolism from muscle over-activity.

For patients who have significant recurrent retching, with or without emesis, medications that block the receptors in the vomiting center such has cyproheptadine and levomepromazine may be helpful.  

Another group of medications would be the anti-spasmodics, such as dicycloverine and mebeverine, which helps with spasmodic pain in the gut.

In terms of procedural interventions, changing from gastric to jejunal feeding may reduce gastric distension and reflux.

Not forgetting non-pharmacological measures such as the use of massage, which works synergistically with medications in a multi-modal approach to soothing discomfort and pain. We started patient J on regular massage sessions, which she enjoys greatly and this has had a very calming and comforting effect on her.

Last but certainly not least, re-visiting a patient’s goals of care and utilising appropriate communication strategies were discussed. For patients who have been surprisingly stable after a period of time, perhaps a shift from an end-of-life palliative approach to a more interventionist approach could be considered, if this is in line with what’s acceptable to the patient and family. Also, it is important to work closely with sub-specialty teams involved, such as those from neurology and gastroenterology, with clarity in regards to what the goals of care are, and to work collaboratively towards this goal as a team. These problems can be chronic, frustrating and appear intractable. Hence, the patient and parents (even clinicians) need to be well supported by a multi-disciplinary team, and treated with gentleness and compassion.

For patient J, we chose to start her on gabapentin, as she did have features suggestive of visceral hyperalgesia and central neuropathic pain, and as adjunctive therapy for control of seizures. Her current dose is 15mg/kg/day, and I am pleased to report that she has shown some improvement in her symptoms. She is able to pass good amount of stools daily (some episodes spontaneous) and she has tolerated an increase in her feeding rate to 20ml/hr (which we have never been able to achieve over the past 1 year) Also, there has been a reduction in the episodes of irritability, crying and seizures. We are so glad that this has helped her to be more comfortable, and has brought some relief to her family.

Thank you once again for your contributions to the lively discussion which has been pivotal in helping this family!

Have a thought? Please leave a comment below!