Hirschsprung disease

Hirschsprung disease
Updated: 02/22/2019
© Jun Wang, MD, PhD

General features
  • Developmental disorder
  • Most common affects rectosigmoid colon
  • More common in male, Down syndrome patients, Asian Americans
  • May be associated with other developmental abnormalities, esp. neurologic abnormalities
  • Familial cluster may present
  • Higher risk for female proband, or multiple family member involvement
  • Clinical presentation associated with abnormal gut movements
Etiology
  • Associated with various mutations
  • Most common gene affected: RET proto-oncogene
  • Associated syndromes
Down syndrome
MEN 2 (RET mutation)
Others: Congenital central hypoventilation syndrome, etc
  • Other congenital anomalies
Genitourinary anomalies: hydronephrosis, etc
Visual and hearing impairment
Congenital heart disease
Anorectal malformations
Pathogenesis
  • Absence of ganglia in distal colon, rarely may involve small bowel
  • Failure of relaxation
  • Tonic contraction resulting functional obstruction
Three major types
  • Short-segment: rectosigmoid colon, most common
  • Long-segment: Proximal to sigmoid colon
  • Total colonic aganglionosis: entire colon
Clinical presentations
  • Most cases may be diagnosed in neonatal period
  • Symptoms of distal intestinal obstruction
Bilious emesis
Constipation
Abdominal distension
Failure to pass meconium or stool
  • Delay in passage of first meconium
  • May have anal spasm
Radiologic features
Pathological features
Signs suggestive of work ups
  • Symptoms of obstruction
  • Failure to pass meconium within 48 hours of birth
  • Constipation in a patient with associated conditions such as Down syndrome
  • Constipation with abdominal distension, tight anal sphincter
  • Squirt sign: Forceful expulsion of gas and stool as the finger is withdrawn from the anus after the digital rectal examination, particularly in infants
Treatment
  • Surgery
  • Frozen section to confirm presence of ganglion cells at the proximal margin of bowel intended for anastomosis
  • Managements of associated anomalies
Outcomes
  • Fecal incontinence
  • Constipation
  • Enterocolitis
  • Urological/sexual: urinary incontinence and erectile dysfunction


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