II. Definition
- Enteric dysganglionosis condition
III. See Also
IV. Epidiomology
- Incidence: 1 in 5000 to 8,000 live births
- Male to female ratio: 3:1 or 4:1
V. Causes
-
Genetic (Family History in 3-7% of cases)
- RET-proto-oncogene (Chromosome 10q11.2) related
- Associated with Multiple Endocrine Neoplasia IIa
- Increased risk with affected sibling
- Boys with sibling affected: 3-5%
- Girls with sibling affected: 1%
- Cild's sibling with entire colon affected: >12%
- Environmental factors
- Intrauterine Intestinal Ischemia or infections
VI. Pathophysiology
-
Ganglion cells absent from part or all of the colon
- Lack of intramural Ganglionic cells
- Submucosa level (Meissner's Plexus)
- Myenteric level (Auerbach's Plexus)
- Aganglionic region begins at anus, extends proximally
- Distance proximal to Pectinate Line exceeds 4 cm
- Involved distal colon fails to relax
- Results in progressive Functional Constipation
- Lack of intramural Ganglionic cells
- Congenital defect at 4-12 weeks gestation
- Neuroblast migration interrupted
- Ganglion cells fail to migrate via neural crest
- Lack of innervation
- Hypertonic bowel results in functional stenosis
- Partial or complete colonic obstruction
- Proximal Intestine markedly dilated with feces, gas
VII. Types
- Short-segment Hirschprung's Disease
- Limited to rectosigmoid colon
- More mild than long segment disease
- Diagnosis may be delayed into early childhood
- Long-segment Hirschprung's Disease
- Involves regions proximal to rectosigmoid
- In the most severe cases, may involve entire colon
VIII. Associated Conditions
- Bladder diveticulum
- Congenital Deafness
- Cryptorchidism
- Down's Syndrome
- Hydrocephalus
- Imperforate anus
- Meckel's Diverticulum
- Neuroblastoma
- Primary Alveolar Hypoventilation (Ondine's Curse)
- Renal agenesis
- Ventricular Septal Defect
- Waardenburg's Syndrome
- Pheochromocytoma
- Meningomyelocele
IX. Presentations: Age
- Early: Newborn
- No meconium in 24-48 hours of birth (90% of cases)
- First month of life
- Progressive Abdominal Distention
- Small caliber stools (pencil-thin)
- Infrequent, explosive Bowel Movements
- Failure to Thrive due to poor feeding
- Bilious Emesis
- Jaundice
- Two to three months of life
- Enterocolitis (fever, explosive bloody Diarrhea)
- Initial presentation in one third of patients
- Enterocolitis (fever, explosive bloody Diarrhea)
- Older Childhood
- Chronic progressive Constipation
- Failure to Thrive or Malnutrition
- Fecal Impaction
- Abdominal Distention
- Recurrent despite enemas, Laxatives, feeding changes
X. Presentation Patterns
- Presentation soon after birth
- Complete Obstruction
- Emesis
- Failure to Pass Meconium in first 24 hours (90%)
- Repeated Bowel Obstruction
- Emesis
- Dehydration
- Delayed meconium passage
- Persistent mild Constipation
- Suddenly develops obstruction
- Distention
- Emesis
-
Diarrhea followed by obstruction
- Fever
- Enterocolitis
- Persistent mild Constipation
- Never completely obstructs
XI. Signs
- Distended Abdomen
- Palpable loops of bowel
-
Rectal Exam
- Tight anal sphincter
- Rectal Exam without stool in ampulla
- Explosive release of feces and Flatus may follow exam
XII. Imaging
- Abdominal XRay
- Massive colon distention with gas and feces
- Air-fluid levels may be present
- Air in bowel wall suggests enterocolitis
- Non-prepped Barium Enema
- Contraindicated if enterocolitis suspected
- False Negative tests are common
- Dilated colon proximal to aganglionic region
- Spastic transitional segment
- Irregular saw-toothed outline
- May be best seen on lateral view
- Barium may be retained in proximal bowel >24 hours
XIII. Diagnostics
- Anal manometry
- Shows lack of internal anal sphincter relaxation
- Involves internal anal sphincter on rectal distention
- Rectal suction biopsy (>1.5 cm above Dentate Line)
- Absence of Meissner, Auerbach's Ganglion plexuses
- Marked hypertrophy of nerve trunks
XIV. Differential Diagnosis
- See Neonatal Constipation Causes
- See Failure to Pass Meconium
-
Functional Constipation
- Onset at over age 12 months
- Meconium passed in first 24 hours of life
- Normal growth
- Normal Rectal Exam
XV. Management
- Pre-surgery maintenance
- Serial rectal irrigation decreases bowel distention
- Surgery
- Mild to moderate cases (e.g. short-segment disease)
- Ilioanal pull-through anastomsis
- Severe cases (e.g. enterocolitis)
- Colostomy for 6 months and then ileoanal procedure
- Mild to moderate cases (e.g. short-segment disease)
- Post-Surgery
- Maintain high Dietary Fiber
- Monitor for enterocolitis despite surgery
XVI. Complications
- Untreated
- Partial Intestinal Obstruction (accounts for 20% of cases in early infants)
- Bowel rupture
- Enterocolitis (up to 50% of cases)
- See Hirschprung Associated Enterocolitis (HAEC)
- May occur 2-10 years after surgery
- High mortality if missed (requires emergent management)
- Post-Surgical
- Constipation (10%)
- Fecal Incontinence (1%)
XVII. Prognosis
- Early diagnosis results in best prognosis
- Before surgery (without recognition and treatment)
- Mortality: 50%
- After surgery
- Early complications: 30%
- Late complications: 39%
- Mortality: 2.4%
- Increased in Down's Syndrome
- Increased in child under age 4 months
- Increased if postoperative obstruction
- Permanent ileostomy: 0.8%
- Permanent colostomy: 0.5%