GI -Hirschsprung's disease - constipation

Question 1

What’s the pathology of Hirschspring’s disease?

Answer 1

Failure of ganglion cells to migrate from neural crest to rectum/colon
Absence of these cells mean that these can’t relax and so causes functional constipation

Question 2

What’s the pattern of bowel affected in Hirschspring’s disease?

Answer 2

Ascending pattern starting at rectum - depends on how far the ganglion cells managed to migrate

Question 3

Presentation of Hirschspring’s disease in neonates

Answer 3

• Failure of passage of meconium in first 48 hours (50% will have Hirschspring’s disease)
• Abdominal distention (tympanic on percussion)
  Repeated vomiting
  Enterocolitis may be the presenting complaint

Question 4

Presentation of Hirschspring’s disease in infants and children

Answer 4

Chronic, treatment resistant consipation
Abdominal distention and discomfort
Overflow incontinence sometimes is seen
Early satiety
Poor nutrition and poor weight gain

On examination colon loops may be palpated and rectal exam may be empty and provoke forceful expulsion of faecal material

Question 5

Entercolitis - presentation

Answer 5

Abdominal pain
Fever
Foul smelling bloody diarrhoea
Vomiting

Question 6

Enterocolitis - risks

Answer 6

Sepsis
Transmural intestinal necrosis
Perforation
30-35% mortality

Question 7

Enterocolitis treatment

Answer 7

Broad spectrum antibiotics

IV fluids

Question 8

Investigations for Hirschspring’s disease?

Answer 8

WCC - raised could be enterocolitis
Rectal biopsy for diagnosis
Barium enema to guide surgeon for treatment

Question 9

Treatment of Hirschspring’s disease?

Answer 9

Surgery - colostomy + pull though later

Question 10

Normal baby bowel habits?
How many times a day in first week?
How many times a day at 1 year

Answer 10

Babies pass 4 stools/day in first week
Babies pass 2 stools/day at one year

breastfed babies may not pass stools

Question 11

Treatment of standard constipation in kids?

Answer 11

adequate fluids, encourage good toilet habits
1st line - polyethylene glycol 3350 + electrolytes
2nd - sodium picosulphate or senna

Question 12

Red flags -
constipation
Sacral dimple above natal cleft, over the spine – naevus, hairy patch, central pit, or discoloured skin

Answer 12

Spina bifida occulta

Question 13

Red flags
Constipation
Faltering growth/growth failure

Differentials?

Answer 13

Hypothyroid
Coeliac disease
Hirschspring’s disease
etc

Question 14

define constipation

Answer 14

infrequent passage of dry hardened faeces
may have pain/bleeding
may be proceeded by dehydration or less toilet use
faecal mass may be palpable in abdomen

Question 15

can you get diarrhoea from constipation?

Answer 15

yes, overflow diarrhoea

Question 16

Toddlers diarrhoea

Answer 16

chronic non specific diarrhoea

usually grow out of it