This case may change your practice, unless you are already doing everything right 😉
9 day old male with Trisomy 21 presents to the ED for evaluation of 3 day history of bilious vomiting. Patient had a normal abdominal ultrasound and ECHO at birth. Parents report that vomiting has been about one episode per day, nonprojectile and green in color.
PMH: Trisomy 21 with normal prenatal anatomy scans
PE: WNL Abdomen soft, nontender, nondistended, no rebound, no guarding, no masses palpable
Plan:
Imaging done in ED:
Abd Xray 2 views: Nonobstructive bowel gas pattern
US abdomen: No sonographic evidence of swirling of the mesenteric artery and vein to suggest presence of midgut volvulus
Progress Note:
Patient tolerating po without emesis. Discussed need to follow up with peds GI.
Xray reassuring with normal gastric bubble and some colonic stool present. Patient with US without pyloric stenosis, normal SMA/SMV orientation, no concerns for volvulus at this time
What would you do now?
Discharge home with Peds GI/PMD follow up?
Observe longer in ED?
Admit for further workup/observation/imaging/consultation?
Patient was discharged home and returned to the ED the following day:
10 day old male with Trisomy 21 returns to the ED for evaluation of 4 days of bilious vomiting. Again, only about one episode per day, nonprojectile, green in color and not with every feed.
Exam normal
Plan:
UGI series and peds surgery consult secondary to bilious vomiting
Upper GI:
The esophagus distends normally and empties into a gas filled distended stomach. The first, second and proximal third portions of the duodenum are dilated. To and fro peristalsis is noted. Eventually, contrast passed into the distal third and fourth portions of the duodenum through a small hole. The distal duodenum is normal in caliber. The duodenal jejunal junction is normal position.
DIAGNOSIS
Duodenal Web
Plan: NGT placed. IV hydration. Surgery.
Take home points:
Bilious vomiting in a newborn is always abnormal
Depending on level of experience, a normal abdominal ultrasound cannot definitively exclude midgut malrotation, volvulus, duodenal web, etc
Admit for UGI if the test is not available to be done in the ED at that time.
Trisomy 21 has increased association with anatomic intestinal abnormalities.
If US is negative for volvulus and malrotation and does not provide an alternative diagnosis, then the patient's presentation guides the decision between expectant medical management versus further imaging with the next appropriate test, which may include UGI series.
If US is inconclusive or nondiagnostic, then an emergent UGI series is performed.
Below is a link to a recent radiology article on the topic:
https://www.ajronline.org/doi/pdf/10.2214/AJR.21.27242
https://pedemmorsels.com/down-syndrome-considerations/
HIGHLIGHT FROM MORSEL ABOVE (in case you didn't click the link):
Intestinal Obstruction considerations in Down's Syndrome
Children with Down’s Syndrome are at risk for functional as well as anatomic intestinal problems!
Can present early on and have severe symptoms, but may have anatomic anomalies that present with more minor symptoms and be overlooked until later in life.
While children with Down’s Syndrome get constipation and viral gastroenteritis like other children, make sure you Slow Down to consider these possibilities:
Small Bowel Obstruction
There is a well known high incidence of Duodenal obstruction associated with Down’s Syndrome.
Duodenal stenois, atresia, and annular pancreas often result in symptoms during neonatal period.
Symptoms may be so mild, though, that the patient has only occasional vomiting, intermittent abdominal pain, or poor weight gain over several months.
Plain abdominal obstruction x-rays can be helpful when considering this potential issue.
Hirschsprung’s Disease
Found in ~ 2% of children with Down’s Syndrome.
May present early on with delayed passage of meconium, but may also be more subtle.
Should be considered in child with “chronic constipation” that persists despite simple laxatives.
Thanks for reading!