Hirschsprung Disease Flashcards

1
Q

What is Hirschsprung disease?

A

A congenital condition of the bowel where there is partial/complete colonic functional obstruction

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2
Q

What is the incidence of Hirschsprung disease?

A

1.65 per 10,000 live births

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3
Q

When are most cases of Hirschsprung disease diagnosed?

A

In the 1st year of life

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4
Q

What is the male:female ratio of Hirschsprung disease?

A

2:1

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5
Q

What is the pathophysiology of Hirschsprung disease?

A

Absence of parasympathetic ganglion cells in the myenteric and submucosal plexus of rectum –> narrow contracted segment of bowel –> extends from rectum and is of variable distance

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6
Q

With what endocrinological syndromes does Hirschsprung disease have an association?

A

MEN2A

MEN2B

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7
Q

With what chromosomal syndrome does Hirschsprung disease have an association, and what % of children with HD also had it?

A

Down syndrome

15% of patients with HD

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8
Q

When do most patients with Hirschsprung disease present?

A

In the neonatal period

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9
Q

What is the presentation of Hirschsprung disease?

A

Obstruction (abdo distension)
Failure to pass meconium within the 1st 48 hours
Bile-stained vomiting
Enterocolitis

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10
Q

What is the presentation of Hirschsprung disease in older children?

A
Chronic constipation
Overflow incontinence (rare, but distinguishes from functional constipation)
Enterocolitis
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11
Q

What is enterocolitis?

A
Abdo pain
Fever
Foul smelling ± bloody diarrhoea
Vomiting
Has a high mortality
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12
Q

What investigations would you do for Hirschsprung disease?

A

Imaging (AXR, double contrast barium enema)
Rectal biopsy
Anorectal manometry

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13
Q

What would a positive AXR look like for Hirschsprung disease?

A

Obstruction

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14
Q

What would a double-contrast barium enema show in Hirschsprung disease?

A

Dilated proximal colonic segment

Narrowed distal colonic segment

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15
Q

What would a rectal biopsy show in Hirschsprung disease?

A

Absence of ganglion cells in myenteric plexus

Large acetylcholinesterase-positive nerve trunks

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16
Q

What is anorectal manometry and what is its role in Hirschsprung disease?

A

Tests pressure of anal sphincter muscles

May give indication of length of narrowed segment

17
Q

What is the management approach to Hirschsprung disease?

A

Treat acute problems

Surgery

18
Q

How is obstruction due to Hirschprung disease managed?

A

Rehydration
Gastric and intestinal decompression
Reduce oral feeding

19
Q

How is enterocolitis due to Hirschsprung disease managed?

A

Broad-spectrum Abx

Aggressive IV rehydration

20
Q

What is the surgical management of Hirschsprung disease and how is it performed?

A

Initial colostomy
Formation of anastomosis between normally innervated bowel and the anus
Transanally

21
Q

What are the complications of Hirschsprung disease?

A

Persisting constipation (10%)
Soiling and inconsistence
Leakage of anastomosis

22
Q

What is the prognosis of Hirschsprung disease?

A

Generally okay

Most children gain faecal continence

23
Q

What is the prognosis of Hirschsprung disease with co-existent Down syndrome?

A

Not as good

Children require permanent colostomy