[24] Hirschsprung's Disease Flashcards

1
Q

What is Hirschsprung’s disease?

A

A congenital condition that affects the large intestine that causes problems with stool

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2
Q

What causes Hirschsprung’s disease?

A

Missing nerve cells in the muscles of the colon

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3
Q

What cells are absent and where from in Hirschsprung’s disease?

A

Missing ganglion cells in the myenteric and submucosal plexuses of parts of the large bowel

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4
Q

What effect does the absence ganglion cells have on the segment of large bowel?

A

Causes it to narrow and contract

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5
Q

What causes the absence of ganglion cells in the segment of large bowel?

A

Failure of the ganglion cells to migrate into the hindgut during development

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6
Q

What effect does Hirschsprung’s disease have on normal bowel function?

A

Causes an absence of co-ordinated bowel peristalsis and functional obstruction at the junction between normal and aganglionic bowel

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7
Q

What is the extent of abnormal bowel in Hirschsprung’s?

A

From the rectum for a variable distance proximal

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8
Q

What does the length of abnormal bowel end in?

A

A normally innervated dilated section of colon

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9
Q

In what percentage of cases is the constriction confined to the rectosigmoid?

A

75%

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10
Q

In what percentage of Hirschsprung’s disease is the entire colon involved?

A

10%

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11
Q

What is the main cause of Hirschsprung’s disease?

A

Genetics

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12
Q

What percentage of Hirschsprung’s disease cases are linked to a specific genetic mutation?

A

~50%

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13
Q

What percentage of Hirschsprung’s disease occurs within families with a history?

A

20%

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14
Q

Does Hirschsprung’s disease occur in isolation?

A

It can but also with other disorders such as Down’s syndrome

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15
Q

What is the main risk factor for Hirschsprung’s disease?

A

Family history

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16
Q

When does Hirschsprung’s disease normally present?

A

In the first few days of life

17
Q

What is the normal presentation of Hirschsprung’s disease?

A

Low intestinal obstruction

18
Q

What symptoms can Hirschsprung’s disease present with?

A
  • Failure to pass meconium in 24 hrs
  • Abdominal distension
  • Bile-stained vomiting
19
Q

What is meconium?

A

The first stool passed by a baby after birth

20
Q

What is a rarer early presentation of Hirschsprung’s disease?

A

Severe, life threatening Hirschsprung enterocolitis in the first few weeks

21
Q

How can Hirschsprung’s disease present in later childhood?

A
  • Chronic constipation

- Abdominal distension

22
Q

What occurs on rectal examination of a patient with delayed presentation of Hirschsprung’s disease?

A

Release of a gush of liquid stool and flatus

23
Q

What investigations can be used to help diagnose Hirschsprung’s disease?

A
  • AXR
  • Rectal biopsy
  • Anorectal manometry or barium studies
24
Q

What will an AXR show in Hirschsprung’s disease?

A

Distal intestinal distension

25
Q

What will rectal biopsy show in Hirschsprung’s disease?

A

No ganglion cells in the submucosa

26
Q

What is the use of anorectal manometry and barium studies in Hirschsprung’s disease?

A

Can give the surgeon an idea of the length of aganglionic segment but not useful for diagnosis

27
Q

What are some differential diagnoses for Hirschsprung’s disease?

A
  • Chronic intestinal pseudo-obstruction

- Meconium ileus

28
Q

What is the management of Hirschsprung’s disease?

A

Surgery

29
Q

How is Hirschsprung’s disease managed surgically?

A

Using a 3 stage method

30
Q

What is the 1st stage of the surgical management of Hirschsprung’s disease?

A

Perform a defunctioning colostomy with multiple biopsies to confirm the site of transition

31
Q

What is the 2nd stage of the surgical management of Hirschsprung’s disease?

A

Pull-through procedure to bring ganglionic bowel down to anus

32
Q

What is the 3rd stage of the surgical management of Hirschsprung’s disease?

A

Closure of the colostomy

33
Q

What is the most important complication of Hirschsprung’s disease?

A

Enterocolitis

34
Q

What is enterocolitis?

A

A dramatic gastroenteritis illness characterised by abdominal distention, bloody watery diarrhoea, circulatory collapse and sepsis

35
Q

What is the mortality of enterocolitis?

A

10%