Hirschsprung's Disease

Aka: Hirschsprung's Disease, Hirschprung's Disease, Hirschsprung Disease, Congenital Aganglionic Megacolon, Congenital Megacolon, Aganglionosis

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II. Definitions

  1. Hirschsprung Disease
    1. Enteric dysganglionosis condition in which bowel segments lack innervation, preventing relaxation

III. Epidiomology

  1. Incidence: 1 in 5000 to 8,000 live births
  2. Male to female ratio: 3:1 or 4:1

IV. Causes

  1. Environmental factors
  2. Intrauterine Intestinal Ischemia or infections
  3. Chromosomal abnormalities (esp. Trisomy 21 or Down's Syndrome)
  4. Genetic (Family History in 3-7% of cases)
    1. RET-Proto-oncogene (Chromosome 10q11.2) related
    2. Associated with Multiple Endocrine Neoplasia IIa
    3. Increased risk with affected sibling
      1. Boys with sibling affected: 3-5%
      2. Girls with sibling affected: 1%
      3. Cild's sibling with entire colon affected: >12%

V. Pathophysiology

  1. Ganglion cells absent from part or all of the colon
    1. Lack of intramural Ganglionic cells
      1. Submucosa level (Meissner's Plexus)
      2. Myenteric level (Auerbach's Plexus)
    2. Aganglionic region begins at anus, extends proximally
      1. Distance proximal to Pectinate Line exceeds 4 cm
    3. Involved distal colon fails to relax
    4. Results in progressive Functional Constipation
  2. Congenital defect at 4-12 weeks gestation
    1. Neuroblast migration interrupted
    2. Ganglion cells fail to migrate via neural crest
  3. Lack of innervation
    1. Hypertonic bowel results in functional stenosis
      1. Aganglionic regions prevent affected bowel lengths from relaxing
      2. Rectosigmoid is most commonly affected (but entire colon may be affected)
    2. Partial or complete colonic obstruction
    3. Proximal Intestine markedly dilated with feces, gas

VI. Types

  1. Short-segment Hirschprung's Disease
    1. Limited to rectosigmoid colon
    2. More mild than long segment disease
    3. Diagnosis may be delayed into early childhood
  2. Long-segment Hirschprung's Disease
    1. Involves regions proximal to rectosigmoid
    2. In the most severe cases, may involve entire colon

VII. Associated Conditions

  1. Bladder diveticulum
  2. Congenital Deafness
  3. Cryptorchidism
  4. Down's Syndrome
  5. Hydrocephalus
  6. Imperforate anus
  7. Meckel's Diverticulum
  8. Neuroblastoma
  9. Primary Alveolar Hypoventilation (Ondine's Curse)
  10. Renal agenesis
  11. Ventricular Septal Defect
  12. Waardenburg's Syndrome
  13. Pheochromocytoma
  14. Meningomyelocele

VIII. Presentations: Age

  1. Early: First few months of life in most cases (age <1 year)
    1. Newborn
      1. No meconium in 24-48 hours of birth (90% of cases)
    2. First month of life
      1. Progressive Abdominal Distention
      2. Small caliber stools (pencil-thin)
      3. Infrequent, explosive Bowel Movements
      4. Failure to Thrive due to poor feeding
      5. Bilious Emesis
      6. Jaundice
    3. Two to three months of life
      1. Hirschsprung-Related Enterocolitis (fever, explosive bloody Diarrhea)
        1. Initial presentation in one third of patients
  2. Late: Older Childhood (age >1 year)
    1. Chronic progressive Constipation
    2. Failure to Thrive or Malnutrition
    3. Fecal Impaction
    4. Progressive Abdominal Distention
    5. Recurrent despite enemas, Laxatives, feeding changes
    6. Hirschsprung-Related Enterocolitis (fever, explosive bloody Diarrhea)

IX. Presentation Patterns

  1. Presentation soon after birth
    1. Complete Obstruction
    2. Emesis
    3. Failure to Pass Meconium in first 24 hours (90%)
  2. Repeated Bowel Obstruction
    1. Emesis
    2. Dehydration
    3. Delayed meconium passage
  3. Persistent mild Constipation
    1. Suddenly develops obstruction
    2. Distention
    3. Emesis
  4. Diarrhea followed by obstruction
    1. Fever
    2. Enterocolitis
  5. Persistent mild Constipation
    1. Never completely obstructs

X. Signs

  1. Distended Abdomen
  2. Palpable loops of bowel
  3. Rectal Exam
    1. Tight anal sphincter
    2. Rectal Exam without stool in ampulla
    3. Explosive release of feces and Flatus may follow exam

XI. Imaging

  1. Abdominal XRay
    1. Small Bowel and proximal colon dilation
      1. Air-fluid levels may be present
    2. Massive colon distention with gas and feces may be present
      1. However, aganglionic regions may be normal caliber (inability to relax)
    3. Air in bowel wall suggests enterocolitis
      1. See Hirschsprung-Related Enterocolitis
  2. Non-prepped Barium Enema
    1. Contraindicated if enterocolitis suspected
    2. False Negative tests are common (esp. first 3 months of life)
    3. Dilated Small Bowel and colon proximal to aganglionic region
    4. Spastic transitional segment
      1. Irregular saw-toothed outline
    5. May be best seen on lateral view
    6. Barium may be retained in proximal bowel >24 hours

XII. Diagnostics

  1. Anal manometry
    1. Shows lack of internal anal sphincter relaxation
    2. Involves internal anal sphincter on rectal distention
  2. Rectal suction biopsy (>1.5 cm above Dentate Line)
    1. Absence of Meissner, Auerbach's Ganglion plexuses
    2. Marked hypertrophy of nerve trunks

XIII. Differential Diagnosis

  1. See Neonatal Constipation Causes
  2. See Failure to Pass Meconium
  3. Functional Constipation
    1. Onset at over age 12 months
    2. Meconium passed in first 24 hours of life
    3. Normal growth
    4. Normal Rectal Exam

XIV. Management

  1. Pre-surgery maintenance
    1. Serial rectal irrigation decreases bowel distention
  2. Surgery
    1. Mild to moderate cases (e.g. short-segment disease)
      1. Ilioanal pull-through anastomsis
    2. Severe cases (e.g. enterocolitis)
      1. Colostomy for 6 months and then ileoanal procedure
  3. Post-Surgery
    1. Maintain high Dietary Fiber
    2. Monitor for enterocolitis despite surgery

XV. Complications

  1. Untreated
    1. Partial Intestinal Obstruction (accounts for 20% of cases in early infants)
    2. Bowel rupture
    3. Enterocolitis (up to 50% of cases)
      1. See Hirschprung Associated Enterocolitis (HAEC)
      2. May occur 2-10 years after surgery
      3. High mortality if missed (requires emergent management)
  2. Post-Surgical
    1. Constipation (10%)
    2. Fecal Incontinence (1%)

XVI. Prognosis

  1. Early diagnosis results in best prognosis
    1. Delayed diagnosis >1 year is associated with preoperative stoma, postop complications, reoperations, mortality
  2. Before surgery (without recognition and treatment)
    1. Mortality: 50%
  3. After surgery
    1. Early complications: 30%
    2. Late complications: 39%
    3. Mortality: 2.4%
      1. Increased in Down's Syndrome
      2. Increased in child under age 4 months
      3. Increased if postoperative obstruction
    4. Permanent ileostomy: 0.8%
    5. Permanent colostomy: 0.5%

XVII. References

  1. Lofton and Kitchell (2026) Crit Dec Emerg Med 40(2): 15-6
  2. Coran (2000) Am J Surg 180:382-7 [PubMed]
  3. Kessman (2006) Am Fam Physician 74(8):1319-22 [PubMed]
  4. Hussain (2002) Pediatr Clin North Am 49:27-51 [PubMed]
  5. Worman (1995) Am Fam Physician 51(2):487-94 [PubMed]

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