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Congenital Malformations Flashcards

(49 cards)

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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?

Study These Flashcards
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?

Study These Flashcards
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?

Study These Flashcards
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?

Study These Flashcards
A
  • Growth failure
  • Portal hypertension
  • Cholangitis
  • Ascites
24
Q

What are the managements of the complications of biliary atresia?

Study These Flashcards
A
  • Monitor fat-soluble vitamins
  • Ursodeoxycholic acid - promotes bile flow
  • Prophylactic Abx to prevent cholangitis
    • Co-trimoxazole
25
What is Small Bowel Atresia?
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
What is Duodenal Atresia associated with?
* Polyhydramnios - impaired swallow * Down’s (33%) * Congenital cardiac abnormalities
27
How does duodenal stenosis differ from duodenal atresia?
* No vomiting * Potential for obstruction * ‘Double bubble’ on AXR
28
What are the signs and symptoms of Small Bowel Atresia?
* Bile-stained vomiting * Non-bilious or bilious vomiting * Abdominal distension
29
What are the appropriate investigations for suspected small bowel atresia?
* **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
What is the management of small bowel atresia?
* **Stabilise** neonate ± **NG tube decompression** * Surgical * **Primary anastomosis** * **Ladd procedure** - *if malrotation present*
31
What are the complications of small bowel atresia?
* Pulmonary aspiration * Anastomotic complications - *stenosis or leak* * Proximal bowel may have abnormal peristalsis - *may need prolonged post-op TPN*
32
What is Low Anorectal Anomaly?
Anus closed over - in a different position or narrower than usual + fistula to skin
33
What is High Anorectal Anomaly?
Bowel has closed end at high level so doesn't connect with anus - usually associated with bladder/urethral/vaginal fistula
34
What are the signs and symptoms of anorectal malformations?
* No/delayed meconium - *goes somewhere else* * Swollen abdomen * *If fistula → may pass stool from abnormal area* * Vomiting
35
What are the appropriate investigations for suspected anorectal malformations?
Clinical → every baby is checked in **neonatal check**
36
What is the management of anorectal malformations?
Surgical correction by 9m (depending on specific anomaly) → i.e. anorectoplasty + loop stoma
37
What are the risk factors for cryptochidism (undescended testes)?
Prematurity
38
What is cryptochidism?
Undescended testes
39
What is the management of cryptochidism (undescended testes)?
* **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
What congenital urinary tract anomalies are renal?
* Multicystic kidneys (AR PKD) * Medullary spongy kidney * Renal agenesis * Horseshoe kidney
41
What congenital urinary tract anomalies are non-renal?
* Pelvoureteric junction (PUJ) obstruction → 2nd to stenosis, atresia of proximal ureter * Vesicoureteral reflux (VUR) * Bladder outlet obstruction
42
What is a common presentation of Vesicoureteral reflux?
* Child presenting with UTIs * 30% of children presenting with UTIs
43
What are the signs and symptoms of urinary tract anomalies?
* Antenatally → oligohydramnios + decreased foetal * Postnatally → irritability and infections * Decreased foetal urine output * Intra- abdominal mass * Haematuria * Renal calculi and failure * HTN * Hepatosplenomegaly
44
What are the appropriate investigations for suspected urinary tract anomalies?
* **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
What is the management of urinary tract anomalies?
* **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
What is the pathophysiology of Vesico-Ureteric Reflex (VUR)?
Ureters enter bladder perpendicularly → shorter intramural course → VUR
47
What are the appropriate investigation for suspected VUR?
* MCUG to diagnose * DMSA to check for scarring (35% of VUR develop scarring)
48
What is the classification of VUR?
* 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
What are the complications of VUR?
* 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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