Keywords STEP procedure - total colonic Hirschsprung's disease - short bowel syndrome - Hirschsprung's
pull-through - jejunal atresia
Importance for a Pediatric Surgeon
Jejunal atresia associated with small intestinal Hirschsprung's disease is rare. It
may result in short bowel syndrome requiring long-term parenteral nutrition, which
can affect the timing of the Hirschsprung's pull-through. We describe the successful
use of resection of the aganglionic small and large bowel as well as a serial transverse
enteroplasty in such a patient who was then able to achieve digestive autonomy and
ultimately reestablishment of gastrointestinal continuity with a successful jejunal–anal
pull-through.
Introduction
Hirschsprung's disease (HD) is a common cause of neonatal obstructive bowel disease
characterized by the congenital absence of ganglion cells. The transition of aganglionic
to ganglionated bowel most frequently occurs in the rectosigmoid colon; however, longer
segment variants involving the entire colon, like total colonic HD and small intestinal
Hirschsprung's disease (SIHD), occur less frequently and only represent 2 to 13% of
all cases of HD.[1 ]
[2 ] Jejunal–ileal atresia is another common cause of neonatal bowel obstruction, thought
to be caused by intrauterine vascular compromise.[3 ] Simultaneous occurrence of both is extremely rare[4 ]
[5 ]
[6 ] placing these children at high risk for short bowel syndrome (SBS) and its associated
complications.[7 ]
[8 ] With this rare combination, the SBS can affect the possibility and the timing of
a pull-through.
Herein, we present a case of jejunal atresia associated with a delayed diagnosis of
SIHD resulting in SBS, which was successfully managed with resection of the distal
aganglionic small and large bowel and a serial transverse enteroplasty (STEP) resulting
in achieving digestive autonomy and reestablishment of gastrointestinal continuity
with a successful jejunal–anal pull-through, with bowel control.
Case Report
A 2-year-old term male was referred after initial management at another institution.
At birth, he was reportedly diagnosed with sigmoid volvulus and jejunal atresia, whereby
he underwent jejunostomy and mucous fistula creation and devolving of the sigmoid.
At 2 months of age, the patient underwent a jejunostomy reversal at the outside institution;
however, they developed a distention and feeding intolerance concerning a distal obstruction
and requiring recreation of the jejunostomy. Prior to reversal, a rectal biopsy was
performed and confirmed HD. At the time of jejunostomy reversal, the patient underwent
colonic mapping, which confirmed total aganglionosis to the level of the distal jejunum.
The jejunostomy was opened more proximally at the ganglionic level, and distal enterectomy
and a near-total colectomy were performed, leaving him with 90 cm of small bowel proximal
to the ileostomy and a 10-cm Hartmann's pouch. The reasoning for leaving Hartmann's
pouch by the previous institution is unknown. Postoperatively, the patient developed
SBS dependent on parenteral nutrition (PN). The patient otherwise had no other reported
comorbidities.
At 2 years of age, the patient's family presented to our institution for continued
intestinal rehabilitation. The patient initially presented with dehydration, electrolyte
imbalance, and poor enteral (gastrostomy tube) intake. He weighed 14.6 kg. He was
found to have a significantly dilated proximal jejunal loop on initial upper gastrointestinal
fluoroscopy ([Fig. 1A ]). Retrograde contrast enema showed a narrowed segment of retained descending colon
and proximal sigmoid colon ([Fig. 1B ]). A contrast study via the jejunostomy confirmed the previously identified dilated
jejunal loops, which was measured to be about 7 cm on the initial fluoroscopy ([Fig. 1C ]). The patient was then taken for endoscopic evaluation, which demonstrated a stricture
of the jejunostomy site and moderate inflammation in the rectum and jejunum. Additionally,
biopsies were taken from the jejunostomy site and confirmed the presence of ganglion
cells. Based on these findings, we proceeded with revision jejunostomy to address
the stricture and completion colectomy to address the enterocolitis noted in the defunctionalized
segment. Given the patient's dilated distal jejunum that required resection, massively
dilated bowel and PN-dependent short gut, a STEP procedure was performed to taper
the bowel.
Fig. 1 (A ) Fluoroscopy showing dilated jejunal loop proximal to the jejunostomy occupying the
entire central abdomen. In addition, there is residual colon to the splenic flexure.
(B ) Contrast enema showing residual segment of narrowed descending colon and proximal
sigmoid colon. (C ) Contrast enema confirming dilated jejunal loops proximal to jejunostomy found on
prior fluoroscopy.
At the time of surgery, a 360-degree twist of the jejunum proximal to the ostomy was
incidentally identified, which was likely causing poor intake and the dilation previously
described ([Fig. 2A ]). The entire small bowel length was measured at 124 cm with the dilated portion
of proximal jejunum comprising 30 cm of the total length. The STEP of the dilated
segment of jejunum enabled the simultaneous narrowing and lengthening of the dilated
segment to 45 cm for a total small bowel length of 139 cm ([Fig. 2B ]). A very short Hartman's pouch was left at the level of the peritoneal reflection.
Fig. 2 (A ) Jejunum twisted 360 degrees as it entered the jejunostomy. (B ) Result of STEP procedure on dilated jejunum, allowing for narrowing and lengthening
of dilated colon. STEP, serial transverse enteroplasty.
The patient recovered well from the procedure. By the age of 3, 1 year out from his
procedure, the patient had weaned off PN to full enteral formula feeds. At 5 years
of age, the patient had a body mass index of 14 kg/m2 (20th percentile), weight of 22 kg (90th percentile), and height of 123 cm (99.874th percentile) and returned to the clinic to discuss feasibility of pull-through and
reestablishment of gastrointestinal continuity. At this time, he had also weaned off
enteral formula and was taking a regular diet by mouth with only gastrostomy tube
use for fluid support and small intestinal bowel overgrowth antibiotic prophylaxis.
Furthermore, the patient had developed a thickening of his jejunostomy output.
Given the patient's progress, we felt he had met criteria for a pull-through, i.e.,
good growth, off total PN and enteral supplemental feeds, and with thickened stoma
output. We therefore proceeded with completion of a proctectomy and jejunal–anal pull-through.
The initial dissection for proctectomy was completed in a Swenson-like fashion. The
jejunostomy was taken down and the remainder of the rectal dissection was carried
out intraabdominally. A total of 140 cm of bowel was measured, and after mobilization
of the small bowel, the jejunum was pulled through.
The patient recovered uneventfully in the hospital and was discharged with a constipating
diet (such as applesauce, white flour, and gradually adding fats after no stool accidents
for 48 hours), fiber, and loperamide to manage his expected hypermotility. On 1-month
follow-up, on an exam under anesthesia, his anastomosis was well healed. He had severe
perianal rash 1 month postoperatively that was improved with further management of
his hypermotility and application of polymeric cyanoacrylate solution and zinc oxide-based
diaper cream. At 2 months postoperatively, the patient's stooling frequency and stool
consistency have improved to 10 to 12 stools per day from 20+ stools per day immediately
postoperatively. The perianal rash has reduced to small redness between the buttocks.
He has not had any episodes of enterocolitis.
Discussion
We present a case of jejunal atresia and SIHD resulting in SBS that required chronic
PN. To our knowledge, this is the first reported case of STEP being used to ultimately
allow a child to achieve nutritional autonomy and become a suitable candidate for
pull-through. Ileal atresia and HD are relatively common causes of neonatal obstruction;
however, concomitant occurrence of both is rare with few reported cases.[4 ]
[6 ]
[9 ]
[10 ]
[11 ]
[12 ] While the exact etiology is unknown, it is believed that the vascular insult within
the 6th to 8th week of life that is presumed to cause ileal atresia could also interrupt the caudal
migration of neural crest cells/ganglion cells resulting in both total colonic and
small intestinal aganglionosis distal to the site of atresia.[12 ]
It is critical to recognize these cases because an unrecognized distal obstruction
threatens any anastomosis made during the treatment of jejunal atresia. Similarly,
to previously reported cases,[5 ]
[6 ]
[12 ]
[13 ] our patient was only diagnosed with HD after problems occurred following the small
bowel anastomosis. Failure to resect affected distal bowel can lead to anastomotic
leakage or persistent obstruction necessitating additional interventions. In our patient,
failure to recognize the HD diagnosis led to an unnecessary jejunostomy reversal and
recreation in a patient already with a limited amount of small bowel.
Patients with SIHD essentially have the most severe form (type 1) of SBS, given the
absence of the terminal ileum, ileocecal valve, and colon.[14 ] Payen et al demonstrated that patients with at least 80 cm of small bowel have the
potential to achieve digestive autonomy, whereas nearly all those with less remained
dependent on PN, some requiring intestinal transplantation.[7 ]
This case was challenging as at time of referral to our center, we were presented
with a patient with failure to thrive, intestinal failure, and reportedly 90 cm of
remaining small bowel. Several other factors contributed to this patient's poor initial
status. He had an obstructed jejunostomy with a massively dilated distal jejunum,
which not only prevented any progress on enteral feeds, but also posed a risk for
bacterial overgrowth. Additional revision on an already short length of remaining
bowel risks even worse nutritional outcomes. Furthermore, the patient had their defunctionalized
aganglionic bowel posing a potential inflammatory nidus, which may have been contributing
to this patient's poor clinical progress. It has been well demonstrated that outcomes
(such as rates of enterocolitis in the excluded segment) have been associated with
a longer extent of aganglionosis as represented in our case.[7 ]
[15 ]
[16 ]
[17 ]
Our solution was to utilize the STEP procedure, which produced excellent results.
First introduced by Kim et al in 2003,[18 ] the STEP procedure has been shown to be effective at increasing bowel length, tapering
dilated bowel, improving absorptive capacity, and facilitating weaning of PN.[19 ]
[20 ] In this case, it provided an excellent way to take advantage of the dilated jejunum
that allowed for lengthening of the patient's bowel. Removing the residual aganglionosis
likely also helped. The interventions spared this patient from long-term nutritional
dependency. Not only was he able to wean from PN, but the patient was also able to
demonstrate adequate growth and the ability to produce thickened stools, which allowed
for definitive pull-through.
At the time of follow-up, the patient continues to do well without signs of enterocolitis,
with decreasing stool frequency per day, no perianal skin excoriation, and bowel control.
Those who have undergone a pull-through for total colonic aganglionosis often experience
perianal dermatitis and excoriation due to the high frequency of bowel contents; however,
this can be treated with antimotility agents (loperamide, with adjuncts including
cholestyramine, hyoscyamine, and Lomotil [diphenoxylate hydrochloride and atropine
sulfate]), a skincare protocol based on the level of skin breakdown (including cyanoacrylate-based
barrier liquid, zinc-based diaper cream), and a constipating diet with good effect.[21 ] Our patient was initially started on 4 mg Imodium twice a day but complained of
chest pain. The dose was reduced to 2 mg twice a day, which was better tolerated from
a stool consistency and chest pain standpoint. At last visit, the patient was also
started on ½ tsp psyllium fiber daily. Family was counseled on local wound management
with consistent wound washing with mild soap and water as well as fresh dressing changes
with which they were able to follow well.
Conclusion
Concomitant jejunal atresia and small intestinal HD is a rare entity but places the
child at high risk for SBS given the residual amount of functional small intestine.
Achieving nutritional autonomy becomes more difficult the longer the extent of aganglionosis;
however, we report the first case of the use of the STEP, which successfully led to
a child achieving nutrition autonomy and ultimate restoration of gastrointestinal
continuity.
