Congenital malformations Flashcards
Give examples of neural tube defects
Spina bifida occulta
Meningocele
Myelomeningocele
Anencephaly
What is spina bifida occulta and what is the complication
Failure of fusion of the vertebral arch (may be seen on X-ray)
Tethered spinal cord syndrome: fixation of the inelastic caudal spine tissue => abnormal movement of spinal cold as child cord
Meningocoele or myelomeningocoele
What are the symptoms and signs of spina bifida occulta
overlying skin lesion - tuft of hair, lipoma, birth mark or dermal sinus
Lower back pain (worsens with activity)
Gait disturbance
Scoliosis
High arched feet
Neurological disturbance
How is spina bifida occulta treated
Surgery to untether the spinal cord
What is a meningoceoele
Herniation of the meninges through an unfused portion of the vertebrae (spina bifida occulta) → sac containing CSF
Does not contain neural tissue → normal neuro
Sac may rupture → meningitis, hydrocephalus
What is a myelomeningocoele
Spinal cord herniates through an unfused portion of the spinal column (spina bifida occulta)
Neuro complications: paresis, talipes, neuropathic bowel/ bladder and hydrocephalus
What is anencephaly
Failure to develop most of cranium and brain
What is the different between cleft lip and palate
Cleft lip = failure of fusion of the frontonasal and maxillary processes
Cleft palate = failure of fusion of the palatine processes and nasal septum
S/S of cleft palate
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
Management for cleft palate
MDT: craniofacial surgeons, paediatricians, orthodontists, audiologist, speech therapist
Surgical repair:
- Lip at 3 months
- Palate at 6-12 months
Special teats and feeding devices
Regular montioring for hydration and nutrition
Orthodontic advice and dental prosthesis
Support: cleft lipi and palate association
Complications of cleft palate and lip
Secretory otitis media (glue ear)
Acute otitis media
Susceptibility to colds
Hearing loss
Dental cavities, displaced teeth
Poor speech
Poor feeding, failure to thrive
What is talipes equinovarus
The foot is inverted and supinated, the forefoot is adducted and the heel is rotated inwards in plantar flexion
Bilateral, or affected foot is shorter and calf muscles thinner
1 in 1000 births, M>F
What is the treatment for talipes equinovarus
Months
Successful outcome for most
How do you differentiate positional talipes from equinovarus
Positional talipes – the feet often remain in their in utero position. Unlike true talipes equinovarus, the foot can be fully dorsiflexed to touch the front of the lower leg
What is phimosis
a foreskin that is pathologically non-retractile (cannot be pulled back)
What is the most common cause of phimosis
balanitis xerotica obliterans (BXO) = progressive scarring that my extend onto the glans
Risk fo scarring spreading to the urethra
What is paramphimosis
Irreducible retracted foreskin, most common in POST-pubertal boys
Glans swells → compromise to blood supply
What are the indications for medical circumcision
Paraphimosis i.e. from BXO
Phimosis that is not responding to treatment
Recurrent balanitis
Recurrent balanoposthitis causing refractory symptoms If access to the urethra is required for intermittent catheterisation e.g. spina bifida
Recurrent UTI, especially with a congenital uropathy e.g. posterior urethral valves or vesicoureteric reflux
What is hypospadias
Abnormal site of ventral urethral meatus – the urethral meatus is variable in position, but in most (80%) is on the distal shaft or glans penis
Ventral curvature of the shaft of the penis (formerly called ‘chordee’), more apparent on erection
Hooded appearance of the foreskin – characteristic in appearance because of ventral foreskin deficiency but of no functional significance.
What is the management for hypospadias
Surgery in the first 2 or 3 years of life
Do NOT circumcise beforehand
S/S of congenital diaphragmatic hernia
Concave chest at birth
Respiratory distress (RR>60, absent breath sounds, cyanosis)
Intestinal obstruction
Volvulus of stomach
Acute resp distress → collapse
What is the management for a congenital diaphragmatic hernia
- NG tube and suction → prevent distension of intrathoracic bowel, allow breathing to occur
- Surgery reduction and repair → re-expansion of lung → TPN/ventilatory support
What is the difference between tracheoesophageal fistula and oesophageal atresia
OA = malformation of oesophagus so it does not connect to stomach
TOF = part of oesophagus joined to trachea; often occurs alongside OA
- Type C most common (90%)
- Stomach acid can regurgitate and go into the lungs → CLD/BPD
What investigations should be done for tracheoesophagela fistula
NG tube → aspirate stomach contents → quickly confirms/excludes
Gold standard = gastrograffin swallow
Management for tracheoesophagela fistula
- Replogle tube (drain saliva from oesophagus)
- Surgical repair (few days of birth/neonatal) → NICU and ventilator support
What does double bubble on AXR indicate
duodenal atresia or stenosis
What is the management for duodenal atresia or stenosis
- A-E assessment
- Consider NG tube decompression of obstruction
- Surgical: primary anastomosis or Ladd procedure for any malrotation
How are anorectal malformations classified
Wingspread: traditional. relationship of the pouch to the levator muscles
Krickenbeck: recent, either major (fistula or no fistula and cloaca or anal stenosis) or minor (colon, atresia/stenosis, rectovaginal fistula, H=fistula)
What are the signs and symptoms of anorectal malformations
Failure to pass meconium
Abdominal distension
Abdominal tenderness
Vomiting
Clinical examination (newborn): No anal opening, ectopic anus, Anal stenosis
What investigations should be done for anorectal malformations
Antenatal USS
AXR
USS
‘Low’ anomaly – anus closed over, in a different position or narrower than usual + fistula to skin
‘High’ anomaly – bowel has closed end at high level, does not connect with anus, usually associated with bladder/urethral/vaginal fistula
What is the management for an anorectal malformation
- A-E and resuscitate
- NBM, decompress with NG tube
- Prophylactic Abx
- Correction
- Low anomaly: exposes the anus under the skin (dilator may be needed to prevent the opening from narrowing)
- High anomaly: temporary colostomy → posterior sagittal anorectoplasty (PSARP) - done at a few months of age when baby has put on more weight
What is the aetiology of cryptorchidism
Incomplete or maldescent of the testis during gestation - May be due to disruption in hormonal control of testicular descent during foetal development
Hypopituitarism → bilateral cryptorchidism
Most occur on the NORMAL pathway of descent
Describe the descent of the testes
- Trans-abdominal: controlled by testicular hormone
- Inguinoscrotal: controlled by androgens
What are the risk factors for cryptorchidism
FHx
LBW and SGA
PRETERM DELIVERY
Endocrine disorders, disorders of sexual development, maternal smoking
Previous inguinal hernia surgery, Hx retractile penis
What investigations should be done for maldescended testes
Imaging not useful, use US to identify location
KARYOTYPE must be done for bilateral impalpable testes
What is the management for bilateral impalpable testes
→ suspected sexual developmental disorder OR present at birth → urgent referral to paediatrician within 24h
Karyotype and endocrine testing
6-8 weeks → urgent referral within 2 weeks
What is the management for unilateral undescended testis
If present at birth → review at 6-8 weeks still present → re-examine at 4-5 months
If retractile → annual follow up (risk of ascending testes)
If undescended → refer to paediatric surgeon before 6 months of age → orchidopexy (placement of testis in scrotum)
Older boys → refer to paeds surgery.urology
What are the complications of cryptorchidism
Subfertility (testis needs to be below body temp for spermatogenesis)
Testicular cancer - both testes at risk even if only one is undescended
Testicular torsion
Psychological
Inguinal hernia
What is potter syndrome and what is it caused by
Oligohydramnios → severe talipes, potter facies (flat face, beaked nose, low set ears), lung hypoplasia → resp difficulty
Aetiology: renal agenesis, AR-polycystic kidney disease, tuberous sclerosis, multicystic dysplastic kidneys
What is horseshoe kidney
Results from abnormal caudal migration
The lower poles of the two kidneys will fuse in the midline (> 90%)
This may predispose to infection or obstruction of urinary drainage
What anomaly is associated with bilateral hydronephrosis in the newborn
Posterior urethral valves → MCUG to exclude
Tx: cystotopic ablation
