Presented on a pediatric patient at Mount Sinai Hospital with Hirschsprung Disease.

1. CLAUDIA GONZALEZ, MS
NYU DIETETIC INTERN
HIRSCHSPRUNGS
DISEASE CASE STUDY

2. HIRSCHSPRUNG DISEASE
Genetic Birth defect
• Absence of nerve cells (ganglion
cells) in the mucosal and
muscular layers of colon/rectum
Ganglion Cells
• Allow intestines to relax/contract
• Without these cells → blockage/
narrowing of the bowel →
obstruction
Epidemiology
• 1:5000 live births
• Male: Female = 4:1
Etiology
Genetics
With ganglion cells
Without ganglion cells
(The University of Chicago)

3. HIRSCHSPRUNG DISEASE:
CLINICAL CHARACTERISTICS
Common Signs & Symptoms: Neonates
- Inability to pass stool x48 hours after birth
-Green/brown vomit
-Explosive stools
-Abdominal swelling
-Diarrhea with blood
Other Signs & Symptoms: Toddlers and Children
-Inability to pass stools even with enemas/suppositories
-Swelling of abdomen
-Diarrhea with blood
-Slow growth (NIH)

4. DIAGNOSING/RULING OUT HD
1. Rectal Biopsy: Looking at tissue
2. Abdominal x-ray: Looking for obstruction
3. Anorectal Manometry: Inflating a balloon inside of
rectume and looking at rectal muscle response
4. Lower GI series: Looking at changes in bowel via x-
ray and contrast agent
TREATMENT: SURGERY
(NIH)

5. SURGERY: PULL-THROUGH
• Remove diseased part of colon and pull through
healthy part of colon to the anus
(Boston Children’s Hospital)

6. PATIENT: OBJECTIVE INFORMATION
• DOB: 04/28/2018
• Age: 13 months
• Sex: Male
• Born at 40 weeks & 2 days
• PMH: failure to pass meconium x 48 hours after birth,
chronic constipation
• Reason for admission: Constipation x8 days
• Concerning for: Hirschsprung’s Disease
• Medical plan of action: Rectal biopsy to confirm → NPO

7. NUTRITIONALLY PERTINENT LABS/MEDS
Labs
-Glucose: 106 mg/dL (H)
-Creatinine: 0.20 (L)
-Electrolytes: WNR
Meds:
-D5 NS at 45 mL/hr x 24 hrs [provides 183 kcal]

8. NUTRITION ASSESSMENT:
ANTHROPOMETRICS
• Height/Length (6/1)
• 84 cm (99th percentile/age)
• Weight (6/1)
• 12 kg (96th percentile/age)
• Weight/Length: (6/1)
• 12 kg/84 cm (77th percentile/age, z-score 0.75)
• IBW/Ht: 11.3 kg
• IBW/age: 9.8 kg
Assessment: Patient is at IBW/ht and appears within normal
limits

9. NUTRITION ASSESSMENT:
DIET ORDER & ESTIMATED NEEDS
Diet Order: NPO
Estimated Nutrient Needs
• Energy: 926-1152 kcal/day (82-102 kcals/kg IBW/ht)
• Protein: 15 g/day (1.2 g/kg current wt)
Assessment: Current intake meeting <25% of nutrient
needs- NPO on IV fluids

10. NUTRITION ASSESSMENT: DIET PTA &
APPEARANCE
Foods typically eaten:
• Fruits & Vegetables
• Broths and lentil soup
• Chicken
• Milk –initially nonfat, then whole milk* (~2 cups/day)
• Fat needed for neurological development
Supplements to help with constipation:
• Hibiscus water and prune juice
• Not enough research to support hibiscus being effective
for constipation
Physical activity: Mom reported patient is physically active
Assessment: Diet is adequate in fiber, protein, and fluids and
patient appears well-nourished.

11. NUTRITION ASSESSMENT:
INTERVENTION
Nutrition Intervention/Plan
• Advance to Pediatric Toddler Diet (1-3 years old)
as medically feasible
• Provided education on constipation
management (high fiber foods, adequate fluid
intake)

12. NUTRITION ASSESSMENT:
MONITORING & EVALUATION
• PO intake/tolerance
• Labs/lytes
• Weights
• Output/BMs
Level of Care: III - patient was NPO with IV fluids

13. NUTRITION FOLLOW UP: BRIEF
Next day:
• Patient allowed to eat
• Patient being discharged - planned for follow up
appointment in one week after biopsy results
• Per mom, medital team informed her that patient is
likely going to need surgery - suspecting HD

14. SURGERY: PULL-THROUGH
• Remove diseased part of colon and pull through
healthy part of colon to the anus
(Boston Children’s Hospital)

15. POST-SURGERY COMPLICATIONS
• Narrowing of anus
• Constipation
• Diarrhea
• Leaking stool from anus
• Delayed toilet training
• Enterocolitis
(NIH)

16. COMPLICATIONS: HIRSCHSPRUNG
ASSOCIATED ENTEROCOLITIS (HAEC)
Hirschsprung Disease
No surgery Surgery
Enterocolitis
Morbidity/mortality
Etiology = unclear
but host immunity
and microflora
may be involved
(Veras & Gosain, 2019)

17. HAEC: CLINICAL CHARACTERISTICS &
TREATMENT
Signs & Symptoms:
• Swollen abdomen
• Fever
• Diarrhea
• Lethargy
• Bleeding from rectum
• Vomiting (NIH)
Medical treatment:
• Abx and rectal irrigation
• IV abx, IV fluids, rectal irrigation -severe cases
• Temporary ostomy & revision of pull-through - repeated
case (NIH)

18. POTENTIAL ETIOLOGY OF HAEC
(Veras & Gosain, 2019)

19. STUDY 1: MICROBIOME DIFFERENCES
AFTER SURGERY
• 176 participants
• 34 had HD
• 141 healthy controls
Results
• HD Patients had a significantly higher abundance of
Proteobacteria, which is associated with inflammation.
(Neuvonen et al. 2018)

20. PROTEOBACTERIA
Gram negative bacteria - bacteria that carries a
lipopolysaccharide (LPS) on it’s membrane
• LPS may be cause of inflammation
• Research has shown that Proteobacteria is
increased in people with IBD
(Rizzatti et al., 2017)

21. STUDY 2: PROBIOTICS FOR HAEC
Probiotics:
1.Bifidobacterium
2. Lactobacillus
acidophilus
3. Enterococcus
Control
Corn Starch
(Wang et al 2015)

22. RESULTS: INCIDENCE OF HAEC
Conclusion: Significantly lower incidence of HAEC when taking probiotics!
(Wang et al 2015)

23. RESULTS: SEVERITY OF HAEC
Conclusion: Severity of HAEC significantly reduced when taking probiotics!
(Wang et al 2015)

24. RESULTS: IMMUNE SYSTEM
Conclusion: Pro-inflammatory cytokines sig. decreased and anti-
inflammatory cytokine remarkably increased with probiotics!
(Wang et al 2015)

25. STUDY 3: BREAST FEEDING & HAEC
Conclusion: Exclusive breastfeeding was associated with lower risk of
overall and postoperative HAEC (Tang et al, 2019)

26. CONCLUSION
-Chronic constipation unresolved with adequate fiber, fluids,
physical activity, or medication can point to a more serious disease.
-HD can lead to HAEC whether the patient is being treated
medically or not.
• Research shows:
• 1. The microbiome of HD patients is altered in a way that is
inflammation promoting
• 2. Supplementation with probiotics to modulate the
microbiome can lead to reduced incidence and severity of
HAEC and reduced inflammatory bio-markers
• 3. Breast feeding can also modulate the microbiome and
therefore has a protective effect on HAEC

27. WHAT WE CAN DO
1.Bifidobacterium ✔
2. Lactobacillus
acidophilus ✔
3. Enterococcus ✔
In addition to encouraging breastfeeding in infants and providing diarrhea and
constipation management diet education…. We can also...

28. REFERENCES
1. The University of Chicago. Hirschsprung Disease. Retrieved from
https://pedclerk.bsd.uchicago.edu/page/hirschsprung-disease
2. NIH. Hirschsprung Disease. National Institute of Diabetes and Digestive and Kidney Disease.
Retrieved from
https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease
3. Boston’s Children’s Hospital. Pull Through Procedure for Hirschsprung’s Disease. Retrieved
from:
http://www.childrenshospital.org/conditions-and-treatments/treatments/pull-through-
procedure
4. Veras L.V., Gosain A. (2019) Hirschsprung-Associated Enterocolitis. Retrieved from
https://link.springer.com/chapter/10.1007/978-3-030-15647-3_13#citeas
5. Neuvonen M, Korpela K, Kyrklund K, Salonen A, de Vos W, Rintala R, Pakarinen M. Intes>nal Microbiota in
Hirschsprung Disease. Journal of Pediatric Gastroenterology and Nutri>on, 2018; 67(5): 594-600. doi: 10.1097/
MPG.0000000000001999.
6. Rizzatti, G., Lopetuso, L. R., Gibiino, G., Binda, C., & Gasbarrini, A. (2017). Proteobacteria: A
Common Factor in Human Diseases. BioMed research international, 2017, 9351507. doi:
10.1155/2017/9351507
7. Wang X, Li Z, Wang Z, Feng J. Probio>cs prevent Hirschsprung’s disease-associated enterocoli>s: a prospec>ve
mul> center randomized controlled trial. Interna>onal Journal of Colorectal Disease (2015); 30; 105-110.
h_ps://doi.org/10.1007/s00384-014-2054-0
8. Tang, Weibing and Su, Yang and Yuan, Chen and Zhang, Yuqing and Zhou, Lingling and Peng, Lei
and Wang, Pin and Chen, Guanglin and Li, Yang and Li, Hongxing and Zhi, Zhengke and Chang,
Hang and Hang, Bo and Mao, Jian-Hua and Snijders, Antoine M. and Xia, Yankai, Exclusive
Breastfeeding Reduces Risk of Enterocolitis by Modulating the Enteric Microbiome in Patients with
Hirschsprung's Disease (March 29, 2019). Available at SSRN: https://ssrn.com/abstract=3362461