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

This case was presented by Dr Grace Ng from HCA Hospice Care, Star PALS.

Tap/Click on the title or “Show full post” to read the entire post.

Transcript of case presentation

Slide 1

Hi everyone. Thank you for joining our first case presentation for the Children Palliative Care Special Interest Group. I’m Dr Grace Ng from HCA Hospice Care, Singapore.

Slide 2

Let’s jump right in with our case, Baby J.

J is a lovely 2 year old Chinese girl, born to a cosy family of five. She has a presumed genetic syndrome and was born with multiple congenital abnormalities. She was evaluated to have the following co-morbidities: Complex congenital heart disease, for which she underwent correct surgery during the neonatal period; cortical malformation, epilepsy, global developmental delay and dystonia; Gastro-esophageal reflux disease and swallowing dysfunction, for which she underwent a percutaneous endoscopic gastrostomy (PEG) and fundoplication procedure; Horseshoe kidney complicated by previous urinary tract infections. Extensive genetic workup for her condition was inconclusive and she was referred to our pediatric palliative home care service when she was one year old due to high care needs and for symptom management.

Slide 3

J’s current active issue is that of gut dysmotility and chronic constipation. She is unable to pass motion or gas spontaneously and frequently develops abdominal bloatedness, which requires regular rectal and PEG venting multiple through the day and night. She was previously on daily rectal washouts, but as her mother was not confident with performing this at home alone, we opted to manage these symptoms with gut motility agents and laxatives. She is on continuous feeding at a rate of 18ml/hr, with 3 cycles of feeds a day, each feed volume ranging from 75 to 90ml. When attempts are made to increase the rate or volume of feeds, J presents with high PEG aspirates and abdominal discomfort. J’s parents had declined further invasive investigations to evaluate the cause of gut dysmotility, and opted for conservative management of her symptoms.

Over the past few months, we have noticed a progression in J’s gut dysmotility. She now takes a longer time to pass motion or gas after Centa enema (sodium chloride solution) is given. During this time, she would become increasingly uncomfortable and agitated.

Slide 4

These are her current medications for gut motility and constipation:

  1. Erythromycin 60mg TDS (7.5mg/kg/dose)
  2. Domperidone 3mg TDS (0.4mg/kg/dose)
  3. Forlax ¼ to ½ sachet forlax OM
  4. Centa enema tube daily PRN

We have also tried these additional medications with limited success:

  1. Senna 3.75mg daily – Caused bloatedness and discomfort
  2. Suppository Dulcolax 5mg daily PRN – Caused irritability
  3. Suppository Glycerin 1g daily PRN – Was ineffective
Slide 5

For J, these are some questions I’d like to post up for discussion:
1) How would you manage J’s worsening gut dysmotility / chronic constipation?
2) Would you consider a trial of new agents that are currently used in the adult population? (e.g. Prucalopride, article attached to blogpost)

Please share your experience in managing patients who had similar symptoms like patient J by commenting below (Tap/Click “Reply”).

A summary of discussions about this case will be posted at the end of two months.