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a Paediatrics by themes > Congenital Malformations > Flashcards

Congenital Malformations Flashcards

1
Q

What is Cleft Lip/Palate?

A

Congenital failure of fusion of the frontonasal and maxillary processes due to polygenic inheritance.

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2
Q

What are the types of cleft lip/palate?

A
  • Combined cleft lip and palate - 45%
  • Isolated cleft palate - 40%
  • Isolated cleft lip - 15%
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3
Q

What are the risk factors for cleft lip/palate?

A
  • Maternal antiepileptic use
  • Maternal benzodiazepine use
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4
Q

What are the appropriate investigations for suspected cleft lip/palate?

A
  • 75% are detected 20w anomaly scan
  • Ask about
    • Feeding difficulties
    • Reduced weight gain
    • Hearing - otitis media
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5
Q

What is the management of cleft lip/palate?

A
  • Surgery – 3m for lip; 6-12m for palate
    • MDT (plastic surgeon, ENT surgeon, paediatrician, orthodontist, audiologist, SALT)
  • Pre-surgical concerns
    • Specialised feeding
    • Watch out for airway problems (e.g. Pierre-Robin sequence)
    • Pre-surgical lip tapping, oral appliances or pre-surgical nasal alveolar moulding (PNAM) to narrow cleft
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6
Q

What is Diaphragmagmatic Hernia?

A

Congenital malformation in which part of intestine moves through the left chest area

  • Can stops lungs from developing properly = Bochdalek hernia (85% are left-sided)
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7
Q

What are the signs and symptoms of diaphragmagmatic hernia?

A
  • Concave chest at birth
  • Respiratory distress in the neonate
    • RR >60
    • Absent breath sounds
    • Cyanosis
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8
Q

What are the complications of diaphragmagmatic hernia?

A
  • Intestinal obstruction
  • Volvulus of stomach
  • Acute respiratory distress → collapse/consolidation
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9
Q

What are the appropriate investigations for suspected diaphragmagmatic hernia?

A
  • Diagnosed on routine USS or after respiratory distress at delivery
  • CXR
    • Displaced mediastinum to left
    • Collapsed left lung
    • Bowel loops in thorax
  • Blood gas
  • U&Es
  • SpO2
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10
Q

What is the management of diaphragmagmatic hernia?

A
  • 1st = NG tube and suction
    • Prevent distension of intrathoracic bowel and allow breathing to occur
  • 2nd = Surgery reduction and repair
    • Re-expansion of lung → TPN/ventilatory support during recover
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11
Q

What is Oesophageal Atresia?

A

Malformation of oesophagus so it does not connect to stomach.

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12
Q

What is Tracheoesophageal Fistula?

A

Part of oesophagus joined to trachea; often occurs alongside OA

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13
Q

What are the types of Tracheoesophageal Fistula and Oesophageal Atresia?

A

Type C = Most common - 90%

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14
Q

What are the antenatal signs of Tracheoesophageal Fistula or Oesophageal Atresia?

A

Polyhydramnios - cannot swallow the amniotic fluid

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15
Q

What are the appropriate investigations for suspected Tracheoesophageal Fistula or Oesophageal Atresia?

A
  • NG tube to aspirate stomach contents can quickly confirm/exclude
  • Gold-standard = Gastrograffin swallow
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16
Q

What is the management of Tracheoesophageal Fistula and/or Oesophageal Atresia?

A
  • Surgical repair - few days of birth/neonatal
    • NICU and ventilator support before and after
  • Replogle tube to drain saliva from oesophagus
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17
Q

What are the complications of Tracheoesophageal Fistula and/or Oesophageal Atresia?

A
  • Take longer to adjust to solids
  • Respiratory complications - chronic lung disease, bronchopulmonary dysplasia
  • GORD
  • Tracheomalacia
  • Feeding issues - stricture formation
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18
Q

What is Biliary Atresia?

A

Progressive fibrosis and obliteration of extra- and intra-hepatic trees leading to chronic liver failure in 2 years.

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19
Q

What are the signs and symptoms of biliary atresia?

A
  • Obstructive jaundice picture:
    • Mild jaundice
    • Pale stools
    • Dark urine
      • No vomiting
  • Normal birth weight → faltering growth
  • Hepatosplenomegaly
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20
Q

What are the types of biliary atresia?

A
  • T1 = common bile duct atresia
  • T2 = cystic duct atresia
  • T3 = full atresia (>90%)
21
Q

What are the appropriate investigations for suspected biliary atresia?

A
  • Raised cBR >14 days
  • USS → triangular cord sign
  • Bloods
    • Clotting - PT / INR
    • LFTs - AST, ALT, ALP, GGT raised – biliary
    • FBC
  • GOLD-STANDARD = TIBIDA isotope scan
  • CONFIRMATION = ERCP ± biopsy
22
Q

What is the management for biliary atresia?

A
  • 1st line = Kasai hepatoportoenterostomy
    • Involves ligating the fibrous ducts above the join with the duodenum and joining an end of the duodenum directly to the porta hepatis of the liver → transplant if unsuccessful
23
Q

What are the complications of biliary atresia?

A
  • Growth failure
  • Portal hypertension
  • Cholangitis
  • Ascites
24
Q

What are the managements of the complications of biliary atresia?

A
  • Monitor fat-soluble vitamins
  • Ursodeoxycholic acid - promotes bile flow
  • Prophylactic Abx to prevent cholangitis
    • Co-trimoxazole
25
Q

What is Small Bowel Atresia?

A

Congenital malformation of the small bowel → absence or complete closure of a part of its lumen

  • Unknown aetiology - possible failure of recanalization of duodenum during embryonic core stage
26
Q

What is Duodenal Atresia associated with?

A
  • Polyhydramnios - impaired swallow
  • Down’s (33%)
  • Congenital cardiac abnormalities
27
Q

How does duodenal stenosis differ from duodenal atresia?

A
  • No vomiting
  • Potential for obstruction
  • ‘Double bubble’ on AXR
28
Q

What are the signs and symptoms of Small Bowel Atresia?

A
  • Bile-stained vomiting
  • Non-bilious or bilious vomiting
  • Abdominal distension
29
Q

What are the appropriate investigations for suspected small bowel atresia?

A
  • Bloods
    • LFT
    • Total serum BR (interpret as uBR)
    • INR
    • Serum amino acids
  • Urinary
    • Organic acids
    • Succinyl acetone
    • Bile acids
    • Lactate : pyruvate ratio
  • Imaging
    • AXR / CXR
    • USS
    • Cholangiogram
    • Tc-99m scan
30
Q

What is the management of small bowel atresia?

A
  • Stabilise neonate ± NG tube decompression
  • Surgical
    • Primary anastomosis
    • Ladd procedure - if malrotation present
31
Q

What are the complications of small bowel atresia?

A
  • Pulmonary aspiration
  • Anastomotic complications - stenosis or leak
  • Proximal bowel may have abnormal peristalsis - may need prolonged post-op TPN
32
Q

What is Low Anorectal Anomaly?

A

Anus closed over - in a different position or narrower than usual + fistula to skin

33
Q

What is High Anorectal Anomaly?

A

Bowel has closed end at high level so doesn’t connect with anus - usually associated with bladder/urethral/vaginal fistula

34
Q

What are the signs and symptoms of anorectal malformations?

A
  • No/delayed meconium - goes somewhere else
    • Swollen abdomen
      • If fistula → may pass stool from abnormal area
    • Vomiting
35
Q

What are the appropriate investigations for suspected anorectal malformations?

A

Clinical → every baby is checked in neonatal check

36
Q

What is the management of anorectal malformations?

A

Surgical correction by 9m (depending on specific anomaly) → i.e. anorectoplasty + loop stoma

37
Q

What are the risk factors for cryptochidism (undescended testes)?

A

Prematurity

38
Q

What is cryptochidism?

A

Undescended testes

39
Q

What is the management of cryptochidism (undescended testes)?

A
  • Unilateral (at birth) = commonly idiopathic → will resolve spontaneously
    • If undescended at 3 months = refer to paediatric surgeon to be seen before 6 months of age
    • Surgical = orchidopexy ± b-hCG
  • Bilateral (at birth) = pituitary causes → refer to paediatricians/endocrinologists for further tests
    • Testes descent is controlled by testosterone - lack of testosterone = will not descend
  • Suggestion of a disorder of sexual development at any point = refer to senior paediatrician for endo and genetic investigation
  • ‘Retractile’ = detect at 3m and advise annual follow-up throughout childhood
40
Q

What congenital urinary tract anomalies are renal?

A
  • Multicystic kidneys (AR PKD)
  • Medullary spongy kidney
  • Renal agenesis
  • Horseshoe kidney
41
Q

What congenital urinary tract anomalies are non-renal?

A
  • Pelvoureteric junction (PUJ) obstruction → 2nd to stenosis, atresia of proximal ureter
  • Vesicoureteral reflux (VUR)
  • Bladder outlet obstruction
42
Q

What is a common presentation of Vesicoureteral reflux?

A
  • Child presenting with UTIs
    • 30% of children presenting with UTIs
43
Q

What are the signs and symptoms of urinary tract anomalies?

A
  • Antenatally → oligohydramnios + decreased foetal
  • Postnatally → irritability and infections
  • Decreased foetal urine output
  • Intra- abdominal mass
  • Haematuria
  • Renal calculi and failure
  • HTN
  • Hepatosplenomegaly
44
Q

What are the appropriate investigations for suspected urinary tract anomalies?

A
  • Renal USS
  • DMSA scan (Tc-99m)
    • Detect scarring & functional defects
    • Sensitive so only >2m after last UTI
  • MCUG
    • Visualise anatomy and VUR and urethral obstruction
    • Not past infancy
  • MAG3 renogram (Tc-99m)
    • Dynamic scan to see MAG3 excreted from blood into urine – use furosemide
  • Genetic karyotyping
    • Potter sequence
      • Renal problems → Oligohydramnios → Problems seen
45
Q

What is the management of urinary tract anomalies?

A
  • Treat the cause
  • 1st = Renal USS
    • All children with an atypical UTI - during acute infection
    • Recurrent UTI - during acute infection
    • First UTI - urgent USS
  • 2nd = DMSA scan
    • All children with a recurrent UTI
    • Atypical UTI under <3yo
  • 3rd or VUR = MCUG/VCUG scan
    • VUR suspected on USS
    • Male with recurrent UTI
    • Female <3yo, 1st UTI
    • Obstruction
    • Trauma
    • Female with pyelonephritis, recurrent UTI
    • Female <5yo, febrile UTI
46
Q

What is the pathophysiology of Vesico-Ureteric Reflex (VUR)?

A

Ureters enter bladder perpendicularly → shorter intramural course → VUR

47
Q

What are the appropriate investigation for suspected VUR?

A
  • MCUG to diagnose
  • DMSA to check for scarring (35% of VUR develop scarring)
48
Q

What is the classification of VUR?

A
  • I = reflux into ureter only, no dilatation
  • II = reflux into renal pelvis on micturition, no dilatation
  • III = mild/moderate dilation of ureter, renal pelvis and calyces
  • IV = dilatation of renal pelvis & calyces + moderate ureteral tortuosity
  • V = gross dilatation of renal pelvis & calyces + ureteral tortuosity - in picture below
49
Q

What are the complications of VUR?

A
  • HTN
  • Renal osteodystrophy
  • UTI and calculi
  • Renal causes = prognosis bad (end-stage renal failure)
  • Non-renal causes = prognosis good (if treated)

a Paediatrics by themes (26 decks)

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