Case presentation

History

CC: 5 wk old baby boy who presents with 2 day history of loose stools and decreased po intake. Baby was born at 41 WGA by SVD to a 39 y/o G1P0A0 female with adequate PNC. BW 3.99 kg. DOL#1 bilious emesis x 1 DOL#2 abdominal distention Meconium passed at DOL#8 after suppository NICU for 2 wks. D/H on breast milk ad lib

History
Patient presents to CHOP on DOL#32 with 2 day history of 8-10 watery, non bloody stools, low grade fever and decreased po intake. No sick contacts, no emesis, no hypoactivity Medications: None Diet: Breast milk ad lib Family history: Unremarkable

Physical Exam

VS: adequate for age. Wt-4.02 kg Appearance: W/H, NAD but mildly irritable HEENT: WNL Heart: WNL. No murmur. Lungs: CTA. Abd: +BS. S+D. Mildly distended. No tenderness. No HSM or masses. Rectal: Normal sphincter tone. Heme + loose stools. Extremities, skin, neurological: WNL

Differential Diagnosis

Differential Diagnosis
Clinical sepsis Acute gastroenteritis Hirschsprung disease enterocolitis Neonatal small left colon Constipation

What would you do?

Laboratories and studies

WBC-23, B-14, S-59, L-21, Hgb-11, Hct-31, Plt687 CMP, LFT were WNL except for alb-3 B/C-negative CXR-negative AXR- Multiple air-fluid levels with dilated loops, no apparent stool or air in the rectum Ba enema abnormal colon with some pseudodiverticula but no apparent transition zone

Hirschsprung disease

Definition

Absence of ganglion cells in the distal bowel beginning at the anus and extending proximally for a variable distance.

Short segment Hirschsprung- 80-90% Long segment Hirschsprung- 10%

Total colonic aganglionosis- 5% Total colonic aganglionosis plus small bowel

Epidemiology
1 in 5000 newborns 4Males:1Female for short segment -> 1:1 7% of cases have a family history of the disease. In total colonic disease this is 21%.

Pathophysiology
5-12 wk of embryogenesis Failure of migration, differentiation or survival of neural crest cells Absence of myenteric and submucosal nerve plexus -> affected gut is unable to relax -> functional bowel obstruction with dilatation of proximal bowel

Genetics
Inheritance pattern can be autosomal dominant or recessive. Mutations increase odds of having Hirschsprung but is not predictive of the abnormality. 15% at least have one other congenital anomaly 12% have chromosomal anomalies Ex: Down, MEN IIA, Shah-Waardenburg

Clinical presentation
Should be suspected in all infants who have not passed meconium within 48 hr of birth and in all infants with signs of bowel obstruction Signs: constipation, abdominal distention, bilious emesis, FTT, CV collapse, diarrhea PE:sphincter is N or ; explosive diarrhea; transition zone (finger in glove); empty vault

Diagnosis

AXR

Loops of distended intestine, air in rectum

Contracted distal colon, abrupt transition to a dilated proximal colon Absence of relaxation of internal anal sphincter in response to rectal distention

Barium enema

Anorectal manometry

Suction rectal biopsy

Absence of ganglion cells. Should be done at 2-4 cm from dentate line; must have adequate submucosa.

Submucosa

Hirschsprung

Normal

Myenteric

Treatment
Initial tx: Resuscitation, IVF, NGT, rectal washouts Colostomy in the neonatal period at the distal limit of ganglionic bowel Staged surgical procedures (3-9 mo) If the patient has enterocolitis, colostomy is deferred until improvement occurs

Surgeries
Rehbein Swenson Soave Duhamel

Martin-Duhamel Involves positioning the proximal ganglionic intestine posterior to the rectum. Extended side-to-side anastomosis of the small intestine to the aganglionic left colon

Complications

60% fecal incontinence Enterocolitis

Malaise, fevers, abd. pain, constipation or diarrhea ?alteration of bacterial flora, relative gut stasis, impair mucosal or neuronal immunity Tx: rectal washouts, antibiotics (Vanco or Flagyl), probiotics. Sphincterotomy (surgical or chemical). Urgent colostomy. 6-30% mortality

Anorectal stenosis Malabsorption, TPN dependence Dysmotility

Genetic counseling
Prognosis may be related more to the syndrome rather than to Hirschsprung Genetic testing for prenatal diagnosis? Get family history of thyroid, parathyroid, or adrenal cancer in patients with Hirschsprung

Our patient
Rectal biopsy -> absence of ganglion cells Exploratory laparotomy, biopsies (leveling colostomy)-> total colonic aganglionosis up to mid ileum -> diverting loop ileostomy Martin Duhamel pull through

Bibliography

Walker, et al. Pediatric Gastrointestinal Disease. 2004, pages 1031-1040 Stewart D, Von Allmen D, Piccoli D. Gastroenterology Clinics of North America: The genetics of Hirschsprung Disease. Vol 32 (3). Pages 819-839 Neville, H. Hirschsprung Disease. www.emedicine.com Warner B. Whats new in pediatric surgery. Journal of the American College of Surgeons Vol 1999 (2)