CONGENITAL ANOMALIES Flashcards

1
Q

Bochdalek hernia

A

Posterolateral diaphragmatic defect

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2
Q

Morgagni hernia

A

Retrosternal diaphragmatic defect

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3
Q

Eventration

A

Abnormal elevation a part/entire leaf of the intact diaphragm due to:
Paralysis
Congenital muscular hypoplasia
Atrophy of muscle fibre

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4
Q

Congenital diaphragmatic hernia potential complications

A

Pulmonary hypoplasia
Pulmonary hypertension
Persistent pulmonary hypertension and persistent feral circulation

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5
Q

Diagnosis of congenital diaphragmatic hernia

A

PRENATAL- U/S or MRI with fetal surgery

POSTNATAL- Respiratory distress and cyanosis may be suggestive but confirmed on X-ray

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6
Q

Management of congenital diaphragmatic hernia

A

Stabilisation using ventilation to limited barotrauma (HFOV) and ECMO
Surgical intervention when child is stable

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7
Q

Investigations in hypertrophic pyloric stenosis and diagnostic criteria

A

U/S

Diagnostic criteria:
Muscle thickness =/> 4mm and a length =/> 16mm

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8
Q

Management of hypertrophic pyloric stenosis

A

Correct metabolic hypochloraemic hyponatraemic metabolic alkalosis
Surgical Ramstedts pyloromyotomy

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9
Q

Oesophageal atresia and T-O fistula diagnosis

A

Babygram after failure to pass stiff NG tube and contrast study contraindicated

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10
Q

Oesophageal atresia and T-O fistula management

A

Reploge tube to prevent further aspiration
Exclude other anomalies
TPN if surgery is delayed
Surgery: Thoracotomy, fistula ligation and end to end anastomosis

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11
Q

Oesophageal atresia and T-O fistula presentation

A

Maternal polyhydramnios and absence of stomach gas on prenatal U/S
Copious, fine white frothy bubbles of mucus in the mouth and nose that recur despite suctioning
Rattling respiration and episodes of coughing and choking in association with cyanosis
Symptoms worsen during feeding
Abdominal distension 2° to collection of air in the stomach

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12
Q

Duodenal atresia is common in

A

Trisomy 21

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13
Q

Duodenal atresia diagnosis/ presentation

A

Polyhydramnios
Bile stained vomitus
Scaphoid abdomen

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14
Q

Types of duodenal atresia

A

Duodenal stenosis
Fibrous cord atresia
Complete atresia with separation

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15
Q

Duodenal atresia management

A

Resuscitation and stabilisation
Surgical intervention with duodeno-duodenoplasty

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16
Q

Intestinal malrotation diagnostic investigation

A

Water soluble contrast study

17
Q

Intestinal malrotation management

A

Resuscitation and surgical intervention
Perform Ladd’s procedure with bowel placed in a position of non rotation

18
Q

Jejunoileal atresia definition

A

It’s due to intrauterine vascular accident as described by Banard and Louw

19
Q

Jejunoileal atresia presentation

A

Polyhydramnios
Bilious vomiting
Abdominal distension
Assoc. anomalies

20
Q

Jejunoileal atresia diagnosis

A

Triple bubble appearance on X-ray

21
Q

Jejunoileal atresia management

A

Surgical repair with tapering or resection of dilated bowel

22
Q

Anorectal malformation is due to…

A

Failure of descent of urorectal septum

23
Q

Anorectal malformation in males

A

Perineal fistula
Rectourethral fistula (bulbar and prostatic)
Rectovesical fistula
Imperforate anus without fistula
Rectal atresia

24
Q

Anorectal malformation in females

A

Perineal fistula
Vestibular fistula
Persistent cloaca
Imperforate anus without fistula
Rectal atresia

25
Q

Anorectal malformation diagnosis

A

Failure to pass meconium
Anus not patent or at incorrect place
Abdominal distension

26
Q

Anorectal malformation management

A

1st 24hrs:

IV fluids
Antibiotics
NG tube to decompress the abdomen and prevent aspiration
Evaluate for associated defects

27
Q

Hirchsprung’s disease (HD) presentation

A

1.Delayed passage of meconium
2.Constipation with intermittent diarrhoea
3.Distended abdomen with bilious vomiting
4.Feeding intolerance
5.Poor weight gain/ weight loss
6.Explosive, foul smelling stools associated with fever and abdominal distension heralds the onset of HD enterocolitis (potential fatal complication)

28
Q

Types of HD

A

Classical
Long segment
Total aganglionosis

29
Q

Classical HD

A

75% pts have ganglion cells down to the level of the rectosigmoid junction

30
Q

Long Segment HD

A

Aganglionosis of the descending colon, splenic flexure or transverse colon

31
Q

Diagnosis of HD

A

Contrast enema
Anal manometry
Full thickness rectal biopsy

32
Q

HD management

A

Resuscitation with fluids, antibiotics, NGT and colonic lavage
Defunctioning colostomy initially
Anorectal pull through procedure like Duhamel, Psoave, Swenson at a later stage

33
Q

Gastroschisis is associated with

A

Advanced maternal age
Low parity
Toxins