Hirschsprung’s disease

Hirschsprung’s disease
• One in 5000 live births
• Male-to-female ratio of 4:1
• In 90 % are mature newborns
• In 1-6 % are familial
• In 10%-30% are associated anomalies
 Hirschsprung’s disease
• Rectosigmoid in 75%
• Short segment (rectum)
• Ultra short (part of the rectum)
• Long segment
• Total aganglionosis (large intestine, sometimes
a part of small intestine) up to 10%
• Segmental
 Hirschsprung’s disease
Embriology
• Migration of neuroblasts on the 5-7 g.week
• On the 12. g.week they reach the rectum
• Myenteric plexus
• Submucous plexus
• Ganglions
• The process of maturation continues after the
birth
 Hirschsprung’s disease
Histopathology
• Absence of ganglionic cells
• Hypertrophic cholinergic nerve trunks
• Limited number of adrenergic fiber
 Hirschsprung’s disease
Clinical symptoms
• The disease can be considered to be
incomplete intestinal obstruction
• The length of the aganglionic segment is
variable
• The symptoms are variable too
• The symptoms appears in different ages
 Hirschsprung’s disease
Symptoms in newborn age
• Fail to pass meconium (in 24 hours of life)
• Abdominal distension, but the abdomen is
palpable
• Vomiting
• Rectal tube (or finger) cannot pass easily
• After irrigation the signs and symptoms return
again in a few days
 Hirschsprung’s disease
Symptoms in newborn age(enterocolitis)
• Life-threatening condition
• Diarrhea: it can be an early sign
• Toxic megacolon
• Abdominal distension
• Bile-stained vomiting
• Fiver and signs of dehydration
• Rectal tube:explosive expulsion of gas and foul-
smelling stools
 Hirschsprung’s disease

Symptoms in infants
• Constipation
• Meteorism
• Palpable faecaloma
• Foul smelling diarrhea
• Ulceration, bleeding
• Hypoproteinaemia, anaemia
• Electrolyte disorders
 Hirschsprung’s disease

Symptoms in childhood
• Gracile limbs
• Dilated drumlike belly
• Long history of constipation
• Defecation in 7-10 days
• Multiple fecal masses
• The stimulus of defecation is missing
• Rectum is empty and narrow
Hirschsprung’s disease
 Hirschsprung’s disease
Examinations
• Plain abdominal radiographs
• Contrast enema
• Anorectal manometry
• Rectal biopsy, histopathology
 Hirschsprung’s disease

• Plain X ray: air/fluid levels,free air

• Contrast enema:
-Narrow distal segment
-Funnel-shaped transition zone
-Dilation of proximal colon
-After 24-48 hours the contrast material
is in the bowel
-Mucosal irregularity (enterocolitis)
Hirschsprung’s disease
Hirschsprung’s disease
 Hirschsprung’s disease

Anorectal manometry
• Anorectal pressure is elevated
• No relaxation of the internal sphincter
• It can be put through safely in newborn age as
well
 Hirschsprung’s disease
Biopsy and Histology

• Full-thickness strip-biopsy
• Suction biopsy
Hirschsprung’s disease
Hirschsprung’s disease
 Hirschsprung’s disease
Treatment:
• Decompression: introduce a rectal tube and
irrigation
• Colostomy
• Definitive procedures
• Closing of the stoma
Hirschsprung’s disease
Hirschsprung’s disease
Hirschsprung’s disease
 Hirschsprung’s disease

Long-term outcome
• If started in time, under adequate treatment is
good.
Thank you