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YR5 Paediatrics > Congenital Malformations > Flashcards

Congenital Malformations Flashcards

1
Q

Define cleft palate/lip.

A

Congenital malformation, resulting in clefts that involve the lip, hard palate and the soft palate; may be unilateral or bilateral.

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2
Q

Define diaphragmatic hernia.

A

Congenital defect in the formation of the diaphragm that leads to the protrusion of abdominal contents into the thoracic cavity.

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3
Q

Define tracheoesophageal fistula.

A

A tracheo-oesophageal fistula (TOF) is an abnormal communication between the oesophagus and the trachea.

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4
Q

Define oesophageal atresia.

A

Congenital malformation of the oesophagus with failure of continuity of the oesophageal lumen resulting in an upper and lower oesophageal pouch.

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5
Q

Define small bowel atresia.

A

Congenital malformation of the gastrointestinal tract (duodenum, jejunum and ileum) resulting in absence or complete closure of a portion of its lumen.

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6
Q

Define biliary atresia.

A

Malformation of the bile ducts which causes the ducts to be abnormally narrow, blocked or absent.

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7
Q

Define urinary tract anomalies.

A

Congenital structural abnormalities of the kidneys, bladder or urethra.

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8
Q

Define anorectal malformations.

A

Wide spectrum of congenital disorders affecting the distal anus and rectum as well as the urinary and genital tracts.

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9
Q

Define cryptorchidism.

A

Failure of normal descent of the testicle to a scrotal position.

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10
Q

Explain the aetiology/risk factors for cleft palate/lip.

A

Cleft Lip: Results from failure of fusion of the frontonasal and maxillary processes.

Cleft Palate: Partial or total failure of fusion of the palatal shelves.

Risk factors: Strong genetic element, associated with 400 syndromes, link with maternal smoking.

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11
Q

Explain the aetiology/risk factors for diaphragmatic hernia.

A

General: More commonly unilateral although may be bilateral. Lt > Rt. Bowel or ntra-abdominal viscera may have herniated. Common for liver (Rt) and also spleen (Lt) to be herniated. There may be associated abnormal hepatic vasculature. Associated with abnormalities of the pulmonary tree, vasculature and surfactant deficiency hypoplastic lungs).

  • Posterolateral Bochdalek hernia: 90% of cases, commonly left-sided, posterolateral defect.
  • Morgagni hernia: 3% of cases, commonly right-sided (90%), anteromedial defect.
  • Congenital hiatus hernia: Rare, stomach herniates through the oesophageal hiatus
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12
Q

Explain the aetiology/risk factors for tracheoesophageal fistula and oesophageal atresia.

A

The vast majority of patients have proximal oesophageal atresia with a distal tracheoesophageal fistula.

  • VACTERL (Vertebral, anorectal, cardiac, tracheal, esophageal, renal, limb anomalies)
  • CHARGE (Coloboma, heart defects, atresia choanal, retarded growth + development, genital hypoplasia + ear deformities).
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13
Q

Explain the aetiology/risk factors for duodenal atresia.

A

The duodenum ends in a blind pouch either distally to the ampulla of Vater (75%) or proximally (25%). Type I (duodenal web), type II (complete obstruction with fibrous cord between proximal and distal pouches) and type III (complete gap between pouches).

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14
Q

Explain the aetiology/risk factors for jejnual and ileal atresia.

A

Type I (membranous obstruction), type II (intact mesentery and fibrous cord between pouches), type III (mesenteric defect with gap between pouches), type IIIb (apple-peel deformity), type IV (multiple jejunoileal atresias).

Commonest: 30% proximal jejunum, 35% distal ileum.

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15
Q

Explain the aetiology/risk factors for general small bowel atresia.

A

Exact causes unknown. Possible failure of recanalisation of the duodenum during the embryonic solid core stage or in utero mesenteric vascular accident.

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16
Q

What are the associations for duodenal, jejunal and ileal atresia?

A

Associations of duodenal atresia: Polyhydramnios, Down’s syndrome malrotation, congenital cardiac abnormalities, early intrauterine intussusception.

Associations of jejunoileal atresia: Prematurity, Low birth weight, consanguineous, maternal infections.

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17
Q

Explain the aetiology/risk factors for biliary atresia.

A
  • Type I involves obliteration of the common duct; the proximal ducts are patent
  • Type II is characterized by atresia of the hepatic duct, with cystic structures found in the porta hepatis
  • Type III (>90% of patients) involves atresia of the right and left hepatic ducts to the level of the porta hepatis.

Associations: CMV infections, aflatoxin B.

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18
Q

Explain the aetiology/risk factors general urinary tract anomalies.

A

Also known as CAKUT (congenital anomalies of the kidney and urinary tract), associated with severe different chromosomal loci abnormalities and PAX2 gene mutation.

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19
Q

Explain the aetiology/risk factors for renal abnormalities.

A
  • Multicystic dysplastic kidneys (MCDK): multiple renal cortex and medulla cysts.
  • Medullary sponge kidney: congenital cystic dilation of the collecting ducts allowing calculi formation.
  • Nephronophthisis: multiple cyst formation at the corticomedullary junction with progressive glomerular sclerosis.
  • Unilateral renal agenesis: congenital absence of a kidney secondary to lack of induction of the metanephric blastema by the ureteral bud.
  • Ectopic/horseshoe kidney: fusion of the lower poles (>90% cases) resulting in either symmetrical or asymmetrical horseshoe.
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20
Q

Explain the aetiology/risk factors for non-renal urinary tract abnormalities.

A
  • Pelviureteric junction (PUJ) obstruction: secondary to stenosis or atresia of the proximal ureter.
  • Vesicoureteral reflux (VUR): with associated hydronephrosis.
  • Non-obstructed non-refluxing primary megaureter: aperistaltic and narrowed prevesical portion of the ureter.
  • Bladder outlet obstruction: secondary to posterior urethral valves (PUV); congenital lesions causing variable degrees of obstruction (may present with severe renal failure).
  • Ureterocoele: presence of an intrabladder hernia or cystic ballooning at the lower end of a ureter.
  • Hypospadias/epispadias: abnormal ectopic urethral opening along the ventral (hypospadias) or dorsal surface (epispadias) to variable degrees.
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21
Q

Explain the aetiology/risk factors for general anorectal malformations.

A

Wide spectrum of defects. Exact aetiology unknown but close genetic association. All have absence of an anus in the normal position.

  • Mild forms: Bowel outlet via fistula in the perineal region separately from the normal sphincter complex.
  • Severe forms: Bowel outlet ectopically opens in the urogenital tract (males) and genital tract (females).
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22
Q

Explain the aetiology/risk factors for wingspread classification anorectal malformations.

A

Traditional system.

Relationship of the pouch to the levator muscle complex: either low, intermediate and high.

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23
Q

Explain the aetiology/risk factors for Krickenbeck classification anorectal malformations.

A

Recent international consensus.

  • Major group: Presence of fistula (perineal, rectourethral, prostatic, bulbar, rectovesical, vestibular) or no fistula and cloaca or anal stenosis.
  • Minor group: Pouch colon, rectal atresia/stenosis, rectovaginal fistula, H-fistula, others.
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24
Q

Explain the aetiology/risk factors for cryptorchidism.

A

First stage (transabdominal): The fetal gubernaculum enlarges under the control of INSL3 (and MIS/AMH) and testosterone. This anchors the testicle near the inguinal region during growth of the fetal abdominal cavity.

Second stage (inguinoscrotal): Involves the migration of the gubernaculum to the scrotum with elongation of the PV within it, under androgen control.

The testicles remain retroperitoneal until 28/40.

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25
Q

Summarise the epidemiology for cleft palate/lip.

A

1/1000 live births.

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26
Q

Summarise the epidemiology of diaphragmatic hernia.

A

1/3000 live births.

M: F = 3:2.

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27
Q

Summarise the epidemiology of tracheoesophageal fistula with oesophageal atresia.

A

1/4500 live births

M:F = 1.26:1

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28
Q

Summarise the epidemiology of small bowel atresia.

A

Duodenal: 1/5000

Jejunoileal: 2/5000

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29
Q

Summarise the epidemiology of biliary tree atresia.

A

1 per 10,000-15,000 live births

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30
Q

Summarise the epidemiology of urinary tract anomalies.

A

3–6/1000

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31
Q

Summarise the epidemiology of anorectal malformations.

A

1 in 5000 live births.

M>F

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32
Q

Summarise the epidemiology of cryptorchidism.

A

3% of full-term male infants.

30% of premature infants.

33
Q

What are the symptoms of cleft palate/lip?

A

At birth: Overt clefts of the hard (and soft palate).

Postnatal:

  • Feeding difficulties: suckling may be compromised by the loss of an oral seal.
  • Airway difficulties: prolapse of the tongue through the cleft into the nasal cavity, especially if associated with mandibular hypoplasia (Pierre Robin sequence).
  • Nasal reflux of liquid or food: in partial clefts of the soft palate.
  • Hypernasal speech or nasal emission - may be detected later, especially in submucosal clefts.
34
Q

What are the symptoms of diaphragmatic hernia?

A

There may be a history of maternal polyhydramnios.

Difficulty in breathing.

Recurrent chest infection.

35
Q

What are the symptoms of oeseophageal atresia?

A

A history of polyhydramnios prenatally.

Excess mucus, coughing choking or cyanosis with the first feed.

36
Q

What are the symptoms of small bowel atresia?

A

Vomiting and abdominal distension.

Vomiting is usually bile-stained in jejunal or ileal atresia.

Can be non-bilious in some forms of duodenal atresia.

37
Q

What are the symptoms of biliary tree atresia?

A

Neonatal jaundice.

Irritability.

Poor growth.

Pale stools and dark urine.

Swollen abdomen.

38
Q

What are the symptoms of urinary tract anomalies?

A

Antenatal: Oligohydramnios, decreased foetal urine output.

Postnatal: Irritability.

39
Q

What are the symptoms of anorectal malformations and cryptorchidism?

A

Anorectal malformations: No specific symptoms.

Cryptorchidism: Asymptomatic, picked up during examination. May have associated inguinal hernia.

40
Q

What are the signs of cleft palate/lip?

A

Should be able to see and palpate a cleft. A posterior cleft may also be present.

41
Q

What are the signs of a diaphragmatic hernia?

A

Cyanosis, respiratory distress, shift of cardiac sounds onto the right side of chest if hernia is big.

42
Q

What are the signs of tracheoesophageal fistula with oesophageal atresia?

A

Abdominal distension in TOF, “scaphoid” abdomen in OA if it is present alone. Other syndromic signs – murmurs etc.

43
Q

What are the signs of small bowel atresia?

A

Abdominal distension

44
Q

What are the signs of biliary tree atresia?

A

Prolonged jaundice, abdominal distension, acholic stool, hepatomegaly, ascites and bruising.

45
Q

What are the signs of urinary tract anomalies?

A

Decreased foetal urine output, intra-abdominal masses, haematuria, renal calculi, renal failure, hypertension and hepatosplenomegaly.

46
Q

What are the signs of anorectal malformations?

A

General: Clinical examination. Associated anomalies.

Specific (low lesions): Prominent midline skin bridge (‘bucket-handle’), subepithelial midline raphe fistula, rectovestibular fistula, anal membrane. A flat perineum (absence of midline gluteal fold and anal dimple) may indicate absence of perineum muscle and therefore a high ARM.

47
Q

What are the signs of cryptorchidism?

A

The most common location of the cryptorchid testis is in the inguinal canal. The testis may also be in the prescrotal and abdominal regions.

48
Q

What are appropriate investigations for cleft palate/lip?

A

Can be diagnosed by USS. Can also be detected during the new-born baby check.

49
Q

What are appropriate investigations for a diaphragmatic hernia?

A

Chromosomal studies. CXR, Cardiac ECHO, Renal USS.

50
Q

What are appropriate investigations for tracheoesophageal fistula with oesophageal atresia?

A

CXR with coiled NGT in upper pouch, distal bowel gas indicates presence of distal TOF. ECHO for cardiac anomalies and Renal USS.

51
Q

What are appropriate investigations for small bowel atresia?

A

AXR will show the “double bubble” sign, absent or reduced gas past the obstructions. In jejunoileal atresia the AXR will show dilated loops of bowel.

52
Q

What are appropriate investigations for biliary atresia?

A

Bloods: FBCs, LFTs, Bilirubin (Total + conjugated), INR, plasma or serum amino acids.

Urinary (organic acids, succinyl acetone, bile acids, lactate to pyruvate ratio).

Imaging: Ultrasound, CXR, cholangiogram, Tc 99m scan.

Liver biopsy.

53
Q

What are appropriate investigations for urinary tract anomalies?

A

Ultrasound: Non-invasive, operator dependent, diagnostic in majority of congenital malformations.

Intravenous urogram (IVU): Visualization of majority of anomalies including VUR/PUV that are not visualised that well by USS.

Nuclear renal imaging: DMSA and MAG3 for assessment of kidney function and perfusion. May overestimate function in an obstructed system, however.

54
Q

What are appropriate investigations for anorectal malformations?

A

General: Screening for associated anomalies: ECHO, CXR (NGT position/heart), RUSS, serum karotype, USS for hydrometrocolpos/spinal anomalies, sacral XR, MRI, urinalysis.

Specific: Prone cross-table lateral XR with the pelvis elevated and marker on the perineum (air column to marker 1 cm¼colostomy), high-pressure distal colostography (distal stomal contrast to delineate distal rectum and urinary connection).

55
Q

What are appropriate investigations for cryptorchidism?

A

Clinical diagnosis.

USS abdomen to aid location of the testis. In bilateral absence conduct hormonal tests (B-HCG) and chromosomal mapping.

56
Q

What is the management for cleft palate/lip?

A

Multidisciplinary approach: Plastic and ENT surgeons, dentists, speech therapist, audiologists, nutritionists, specialist children’s nurses and social workers.

Advice: Slower feeding, positioning the nipple along the non-cleft side and towards the back of the mouth in breastfeeding, use of cleft palate feeders, semi-upright positioning, and regular monitoring for signs of inadequate feeding or dehydration.

Surgical correction: Should occur <1 year to facilitate normal speech and language development.

57
Q

What is the management for a diaphragmatic hernia?

A

Medical: NGT to decompress the bowel. Respiratory support via endotracheal tube and mechanical ventilation. Surfactant administration, Nitric oxide therapy or ECMO in the most severe cyanotic infants.

Surgery: After optimizing the neonate, surgery is via thoracoscopic or laparoscopic transabdominal approaches. Reduction of the hernia and suturing the defect.

58
Q

What is the management for tracheoesophageal fistula with oesophageal atresia?

A

Immediate: Positioning of the infant to avoid regurgitation and aspiration of pneumonia. Suction and irrigation applied to the upper pouch using replogle tube. Keep Nil by mouth.

Surgical:

  • TOF ligation if identified early.
  • PEG and ligation of TOF. Can later replace the oesophagus with a gastric tube and bowel thoracic transposition.
59
Q

What is the management for small bowel atresia?

A

General: ABCDE approach, stabilize the neonate with NGT decompression. NBM. Manage other associated abnormalities.

Surgical: Primary anastomosis or Ladd procedure if malrotation is present. Need to examine the entire bowel to exclude other multiple atretic segments.

60
Q

What is the management for biliary atresia?

A

Hepatoportoenterostomy

Liver transplant

Ongoing: Antibiotic prophylaxis, Ursodeoxycholic acid, nutritional vitamin supplementation.

61
Q

What is the management for urinary tract anomalies?

A

General: Antenatal counselling with screening for associated anomalies or karyotyping as appropriate.

Medical: Symptom control (hypertension), calcium supplements, phosphate binders, 1,25-dihydroxyvitamin D3 for PTH suppression (renal osteodystrophy), antibiotics (UTI/ prophylaxis), dialysis (renal failure).

Surgical: Treatment of cause, e.g. nephrectomy (MCDK/non-functioning kidney), hypospadias correction (e.g. Snodgrass procedure), open/laparoscopic pyeloplasty (PUJ obstruction), PUV or ureterocoele puncturing (endoscopic procedures) nephrostomy placement (obstructed system), suprapubic catheter placement.

62
Q

What is the management for anorectal malformations?

A

Medical (neonatal): Resuscitation as appropriate. Associated anomalies screening, NGT, NBM, antibiotics, transfer to paediatric surgical centre. Often have 24 hours to stabilize as low obstruction. Clinically observation for passage of meconium.

Surgical (neonatal): Ascertain provisional diagnosis of ARM level with surgical planning.

Severe: Primary diverting colostomy. Low: cutback anoplasty/limited PSARP. Large rectovestibular fistulas may be dilated.

Surgical (definite): Posterior sagittal anorectoplasty (PSARP) allows excellent visualisation.
Colostomy closed separately. Laparoscopic-assisted approach also possible with mobilisation of the rectal pouch/ligation of fistula and delivery of the pouch to the perineum through a minimal posterior incision.

Postsurgical incontinence: Effective bowel management programme including enemas, laxatives and dietary manipulations.

63
Q

What is the management for cryptorchidism?

A

Surgery: Patent processus vaginalis ligation if required. Orchidopexy or orchidectomy if testicle is abnormal.

64
Q

What are the complications associated with cleft palate/lip?

A

Susceptibility to colds, hearing loss, speech defects, dental problems and otitis media

65
Q

What are the complications associated with diaphragmatic hernias?

A

Pulmonary hypoplasia, intestinal malrotation (40%), gastric and mid-gut volvulus, gastric or other gastrointestinal perforations, gastric volvulus and bilateral renal hypertrophy.

66
Q

What are the complications associated with tracheoesophageal fistula with oesophageal atresia?

A

Surgical complications (GORD, oesophageal stricture at site of anastomosis and recurrence).

Tracheomalacia, failure to thrive and chest infections.

67
Q

What are the complications associated with small bowel atresia?

A

Pulmonary aspiration, anastomotic complications (stenosis/leak), proximal bowel may have abnormal peristalsis so there may be a prolonged postoperative course of parenteral nutrition.

68
Q

What are the complications associated with biliary atresia?

A

Kernicterus, growth failure, portal hypertension, GI bleed, ascites.

69
Q

What are the complications associated with urinary tract abnormalities?

A

Hypertension, renal osteodystrophy, urinary tract infections and calculi

70
Q

What are the complications associated with anorectal malformations?

A

Most common functional disorder post-surgery is constipation. Possible urinary and faecal incontinence.

71
Q

What are the complications associated with cryptorchidism?

A

Infertility due spermatogenesis defect, increased risk of seminoma.

72
Q

What is the prognosis of cleft palate/lip?

A

Good prognosis with repair. Large defects may result in lifelong impaired speech.

73
Q

What is the prognosis of diaphragmatic hernias?

A

Reported mortality is 25–60%

74
Q

What is the prognosis of tracheoesophageal fistula and oesophageal atresia?

A

Very good prognosis with early surgical intervention. Patients usually if they have associated major cardiac abnormalities or have a very low birth weight.

75
Q

What is the prognosis of small bowel atresia?

A

Mortality directly related to the severity of the associated anomalies and to the degree of prematurity.

76
Q

What is the prognosis of biliary atresia?

A

70% of children will ultimately require liver transplantation.

77
Q

What is the prognosis of urinary tract anomalies?

A

Most renal anomalies may lead to end-stage renal failure and its associated complications. Prognosis is good with non-renal anomalies if adequately treated.

78
Q

What is the prognosis of anorectal malformations?

A

Generally good. Low ARM has fewer complications than high.

79
Q

What is the prognosis of cryptorchidism?

A

Excellent with surgical intervention.

YR5 Paediatrics (116 decks)

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