Scribd Logo
Upload

Welcome to Scribd!

  • 63 views

    Hirschsprung Disease

    Uploaded by

    Ivy Dan
    Hirschsprung disease is a congenital condition where nerve cells are missing from parts of the large intestine. This most commonly affects the rectum and sigmoid colon. It occurs in about 1 in 5,000 births and is more common in males. Symptoms include delayed passage of meconium in newborns and chronic constipation in older children. Diagnosis involves rectal biopsy to check for the absence of ganglion cells. Treatment is surgical resection of the affected part of the intestine. Post-surgery complications can include enterocolitis. Most children achieve normal bowel function after surgery but some continue to experience problems.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd

    Hirschsprung Disease

    Uploaded by

    Ivy Dan
    63 views20 pages
    Hirschsprung disease is a congenital condition where nerve cells are missing from parts of the large intestine. This most commonly affects the rectum and sigmoid colon. It occurs in about 1 in 5,000 births and is more common in males. Symptoms include delayed passage of meconium in newborns and chronic constipation in older children. Diagnosis involves rectal biopsy to check for the absence of ganglion cells. Treatment is surgical resection of the affected part of the intestine. Post-surgery complications can include enterocolitis. Most children achieve normal bowel function after surgery but some continue to experience problems.

    Original Title

    Hirschsprung Disease.pptx

    Copyright

    © © All Rights Reserved

    Available Formats

    PPTX, PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    Hirschsprung disease is a congenital condition where nerve cells are missing from parts of the large intestine. This most commonly affects the rectum and sigmoid colon. It occurs in about 1 in 5,000 births and is more common in males. Symptoms include delayed passage of meconium in newborns and chronic constipation in older children. Diagnosis involves rectal biopsy to check for the absence of ganglion cells. Treatment is surgical resection of the affected part of the intestine. Post-surgery complications can include enterocolitis. Most children achieve normal bowel function after surgery but some continue to experience problems.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    63 views20 pages

    Hirschsprung Disease

    Uploaded by

    Ivy Dan
    Hirschsprung disease is a congenital condition where nerve cells are missing from parts of the large intestine. This most commonly affects the rectum and sigmoid colon. It occurs in about 1 in 5,000 births and is more common in males. Symptoms include delayed passage of meconium in newborns and chronic constipation in older children. Diagnosis involves rectal biopsy to check for the absence of ganglion cells. Treatment is surgical resection of the affected part of the intestine. Post-surgery complications can include enterocolitis. Most children achieve normal bowel function after surgery but some continue to experience problems.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 20

    Hirschsprung

    Disease
    Nitasha Prasad
    S120258
    Epidemiology
    • Males more than females
    • 1 in 5000 births
    • Mostly (90%) seen in full term babies
    • 5% in pre-terms
    • 5% in those with Fhx
    What is HD?
    • condition that affects the large intestine either a part or whole of it.
    • causes problems with passing stool.
    • The condition is present at birth (congenital) as a result of missing
    nerve cells in the muscles of the baby's colon.
    • caused by congenital absence of ganglionic cells in the myenteric
    and submucosal plexus.
    • Most common cause of intestinal obstruction in neonates.
    • areas missing the nerve cells rectum and the sigmoid colon, mostly.
    • However, some children are missing the nerve cells for the entire colon or
    part of the small intestine.

    • In short-segment Hirschsprung disease, nerve cells are missing from the last part of
    the large intestine.

    • In long-segment Hirschsprung disease, nerve cells are missing from most or all of
    the large intestine and sometimes the last part of the small intestine.

    • Rarely, nerve cells are missing in the entire large and small intestine.

    In a child with Hirschsprung disease, stool moves through the bowel until
    it reaches the part lacking nerve cells. At that point, the stool moves
    slowly or stops.
    Pathophysiology
    pathophysiology
    • Hirschsprung disease results from the absence of enteric neurons
    within the myenteric and submucosal plexus of the rectum and/or
    colon.
    • Enteric neurons are derived from the neural crest and migrate
    caudally with the vagal nerve fibers along the intestine.
    • These ganglion cells arrive in the proximal colon by 8 weeks
    gestation and in the rectum by 12 week gestation.
    • Arrest in migration leads to an aganglionic segment.
    • This results in clinical Hirschsprung disease.
    Aetiology
    •Several genes have been identified, one of which is on the X
    chromosome, and thus may explain the male predominance.

    •Associated with Down’s Syndrome – 15-30% of Hirschsprung’s are in


    Down’s patients, and Hirschsprung’s occurs in 8% of Down’s patients

    •Gene mutation (RET & EDNRD)


    Neonates
    Clinical manifestations
    •Usually presents in neonatal period
    •Failure to pass meconium within 48 hours of birth or Delayed passage of
    meconium (>24h)
    •Abdominal distension
    •Vomiting – may include bile staining (greenish brown)

    •½ of all Hirschsprung’s patients don’t pass meconium within 36h


    •½ of all children with delayed passage of meconium have Hirschsprung’s
    disease
    • explosive stools after a doctor inserts a finger into the newborn’s rectum
    • Infants and older children

    • Chronic constipation, often


    resistant to usual treatment
    • Failure to thrive
    • Abdominal distension
    • Early satiety
    Case work up
    • Plain Film
         
    • Abdominal xray may reveal dilated colon proximal to affected segment with paucity
    of rectal air
    • Barium enema demonstrates a narrow segment with abrupt transition to
    dilated segment
    • Anorectal manometry – PPV 75-95% but less accurate in infants <1 month;
    Lack of relaxation of internal anal sphincter and distension of the bowel are
    suggestive of Hirschsprung Disease.
    • Full-thickness rectal biopsy (2-3 cm above anal verge) demonstrating
    absence of ganglion cells is diagnostic
    treatment
    • Medical
    • Supportive
    • Hydration
    • Stabilization
    • Post surgery care  diet

    • Surgical
    • Resection
    complications
    Enterocolitis
    • Can occur before or after surgery.

    Symptoms of enterocolitis may include;


    • a swollen abdomen
    • bleeding from the rectum
    • diarrhea
    • fever
    • lack of energy
    • vomiting
    Prognosis

    • Most children acquire faecal continence and normal bowel habits but
    a number of older children still have ongoing continence problems.
    Unsurprisingly, acquirement of faecal continence is associated with an
    improvement in quality of life.
    • A study followed over 300 patients after surgery for Hirschsprung's
    disease, over 8-20 years. Although satisfactory results were achieved
    in most, some continued to have abnormal colonic motility and
    problems with the internal anal sphincter.
    • The prognosis with Down's syndrome is less favourable and some
    people recommend permanent colostomy.
    summary
    References

    • OP ghai
    • Medscape
    • Slideshare
    • osmosis
    • Upto date

    You might also like