Surgery Flashcards
Limping child - classification, aetiology
- Classification
a. Pain = infection, fracture, tumour
b. Leg length discrepancy = acquired, congenital
c. Mechanical or anatomical = DDH, SCFE
d. Neurological = CP
e. Weakness = MD
2. Aetiology Toddler (1-4 years) 1. DDH 2. Toddlers fracture 3. Transient synovitis (irritable hip) 4. Child abuse Child (4-10 years) 1. Transient synovitis 2. Perthes Disease Adolescent (>10 years) 1. SUFE 2. Overuse syndromes / stress fractures
All ages:
• Infections: Osteomyelitis / Septic Arthritis, discitis, soft tissue, viral myositis
• Trauma
• Non accidental or inflicted injury fracture, sprain, haematoma
• Malignancy - Acute lymphoblastic leukaemia, bone tumours, eg: spine or long bone
• Rheumatological disorders and reactive arthritis
• Intra-abdominal pathology, eg: appendicitis
• Inguinoscrotal disorders, eg: testicular torsion
• Vasculitis, serum sickness
• Functional limp
Limping child - ix
g. Always check spine
5. Investigations
a. Unless suspecting a suspicious diagnosis, Ix usually not required in children with limp <3 days duration
b. Consider
i. Bloods = FBE, ESR, CRP, culture
ii. Imaging = plain films
1. X-ray – include spine
c. Imaging Plain X-ray • Perthes/ SUFE • Chronic OM (bony changes only evident after 14-21 days) • Tumours • DDH (>6 months) U/S • Septic hip Bone scan • OM • Discitis • Perthes • Occult fracture CT/MRI • Only after ortho consult
Limping child - rx
a. Specific to diagnosis
b. Ensure adequate analgesic
c. If no specific cause, or suspecting transient synovitis
i. Bed rest important
ii. Analgesia – NSAID +/- paracetamol
iii. Review with local doctor within 3 days
iv. Return to hospital if febrile, unwell or getting worse
v. Patients with symptoms >4 weeks can be referred to rheum clinic
Osteomyelitis - bg
- Key points
a. Osteomyelitis = infection localised to bone
b. Septic arthritis = infection involving joint space - Risk factors
a. Sickle cell disease (Salmonella)
b. Immunodeficiencies – eg. CGD
c. Sepsis
d. Minor trauma with coincident bacteraemia
e. CVC - Pathogenesis
a. Types of infection
i. Haematogenous = most common - Bacterial deposition in the metaphysis
ii. Direct inoculation = traumatic, surgical
iii. Local invasion from contiguous infection = cellulitis, sinusitis, periodontal disease
b. Age-specific features
i. Note younger children/neonates have metaphyseal capillaries which penetrate growth plate, allowing spread of infection from bone to joint - Microbiology
a. Vast majority caused by S aureus
b. No pathogen isolated in up to 50% of cases – usually presumed to be S aureus
c. Note in young children Kingella kingae common cause
• Second most common cause of OM in children <5 years
• Children 6 to 36 months
• Indolent onset; oral ulcers preceding musculoskeletal findings; may affect nontubular bones
Osteomyelitis - sx
- Clinical manifestations
a. Non-specific
b. Pain – may be localised
c. Fever
d. Reduced ROM + weight bearing
Osteomyelitis
• Subacute onset of limp / non-weight bearing / refusal to use limb
• Localised pain and pain on movement
• Tenderness
• Soft tissue redness / swelling may not be present & may appear late
• +/- Fever
- Site of infection
a. Long-tubular bones
i. >80% of cases
ii. Femur and tibia most common
b. Spine
i. Affects vertebral bodies or intervertebral discs
ii. Consider unusual pathogens
iii. Vertebral bodies - 4% of cases
- Children >8 years
- Constant dull back pain
iv. Intervertebral discs - Usually children <5 years
- Occurs in lumbar region
- Classically results in irritability and back pain, limp or refusal to walk or crawl often without systemic toxicity = patient will guard spine and refuse to forward bend
- Tender to palpate
- ESR elevated in >80% of patients
c. Pelvis
i. Gait abnormality or hip pain
Osteomyelitis - ix, rx, cx
- Investigations
a. Bloods = elevated inflammatory markers
b. Imaging
i. Plain X-ray = deep soft tissue swelling, periosteal reaction, periosteal elevation, lytic sclerosis
- takes at least 3 days to see any changes, more commonly 2-3 weeks
ii. MRI = changes appear earlier than plain radiographs
iii. Bone scan - Treatment
a. IV antibiotics
i. IV flucloxacillin
ii. If considering Kingella or salmonella – IV ceftriaxone
iii. Duration = 4 weeks
b. Surgical drainage – if frank pus in subperiosteal or metaphyseal space
c. Note children with CGD need surgical sampling to identify the causative pathogen - Complications
a. Chronic OM
i. Most often caused by inadequate duration of therapy
ii. Chronic when bone inflammation present for 2 weeks
iii. Rifampicin recommended
b. Neonates destruction of growth plate & growth disturbance, AVN of femoral head
Septic arthritis - general
- Epidemiology
a. 75% by 5 years of age
b. Most common in toddlers (cf. osteomyelitis which is more common in older age group) - Pathogenesis
a. Majority haematogenous
b. Others direct – trauma, post-operative - Microbiology
a. Staph Aureus (MRSA included) – most common
c. Strep pneumoniae (<2years)
d. Kingella Kingae
f. Neonates and adolescents - Gonococcal infection
g. Neonates – GBS + EC
h. Detected organism in 65% cases - Clinical manifestations
a. Early signs – non-specific, usually high fever
b. Neonates – often associated with OM as blood supply traverses the metaphysis
c. Older – localized pain, swelling, erythema, warmth +/- limp (erythema and warmth seen earlier in septic arthritis than OM)
Kocher Criteria = 99% of septic arthritis if all four features present • Temperature • NWB • ESR >40 • WCC >12
- Location
a. Mostly monoarticular
b. 75% LL – knee 40% - Investigations
a. Increased WCC, CRP, ESR
b. Blood cultures
c. Aspiration of joint fluid for MCS +/- Kingela PCR
e. XR – widening of joint capsule, soft tissue oedema, obliteration normal fat lines (normal >50%)
f. US – effusion/fluid collection
g. MRI – consider if want to rule out underlying OM - Treatment
a. Neonates – 3rd gen ceph + Anti-staph (Fluclox/vanco)
b. Older children – IV Fluclox, cefazolin
c. Course usually 10-14days – PO once afebrile 48hours
d. +/- surgical management
i. Joint aspiration of hip emergency due to vulnerable blood supply to head of femur
ii. Daily aspiration may be needed in other joints
e. Good prognosis if treated <7 days from onset symptoms
Transient synovitis - general
= “irritable hip”
- Epidemiology
a. Child 3-8 years old - Clinical presentation
a. Child constitutionally well and afebrile
b. Partial limp and difficulty walking +/- painful hip
i. Generally no/ little pain at rest
c. Pain may be referred to the knee
d. History of recent viral illness (or accompanies viral illness)
e. Absence of trauma
f. Severity of the symptoms may vary with time
g. Signs
i. Mild to moderate decrease ROM due to pain, particularly IR
ii. NOTE: the less movement in the joint, the more likely the cause is infective - Investigations
a. Irritable hip is a diagnosis of exclusion
b. Results are normal for radiographs, FBE, ESR <20, CRP <8 - Treatment
a. Rest – the more the child can rest, the quicker the recovery; children may relapse if they increase activity too quickly
b. Analgesic - NOTE
a. The history, symptoms and signs of irritable hip overlap with septic arthritis which is a serious condition requiring urgent Tx
b. If there is ANY suspicion of bone or joint sepsis, paediatric orthopaedic consultation is required and admission to hospital should be arranged
Differentiators: SA = fever, unwell, severe pain/discomfort at rest, raised inflam markers,
Developmental dysplasia of the hip - general
- Definition = abnormal development of the hip joint
a. Femoral head is not stable within the acetabulum
b. Ligaments of hip joint are stretched/ loose
c. Hips can dislocate after birth
d. NOTE: painless (if painful suspect septic dislocation) - Key points
a. Most hip dysplasia is treated under 3 months
b. All babies need regular clinical examination of their hips
c. Risk factors, history of lower limb swaddling and any abnormal clinical findings require ultrasound screening
d. Brace is highly effective - Risk factors
a. Breech delivery (10x)
b. Oligohydramnios (4x)
c. Female (4x)
d. Big baby >4kg (4x)
e. First-born (2x)
f. Family history - Associated
a. Down sydnrome
b. Arthrogryposis
c. Larsens syndrome
d. Spina bifida - Diagnosis
a. Examination
i. Inspection = extend legs and look for asymmetrical crease
ii. Ortolani, Barlow’s
NOTE – Barlow’s and Ortolani tests more difficult in infants >3 months + less sensitive in older infants - Detection of asymmetry more important (creases, limbs, limited abduction in flexion)
b. Selective screening
i. Infants in high-risk groups
ii. As clinical examination and U/S has diagnostic limitations, repeated examination of children with RF during 1st year of life is important
iii. U/S = until 7 months (high false positive in <6 weeks)
iv. X-Ray = 5 months+ (femoral head ossifies 3-5 months) - Management
a. The earlier the diagnosis, the easier the management
b. Stable dysplastic hip
i. Treatment should ideally start in the first 7 weeks of life
ii. Brace must be worn 23 hours/day at the outset of treatment
iii. Treatment continued until hip is normal on USS – minimum 6 weeks
c. Dislocatable
i. As above
ii. Brace stays on for a minimum of 8 weeks
d. Dislocated
i. Treatment should start immediately following diagnosis – ideally within 7 weeks
Brace should be worn 24 hours/day until the hip is reduced an stable, at which point is reduced to 23
ii. hours/day
iii. Hip should be monitored weekly via ultrasound for concentric reduction until it is reduced + stable
e. Surgery (open reduction) = if diagnosed later - Complications
a. Redislocation, inadequate reduction, stiffness
b. AVN of femoral head - Late diagnosis
a. Late presenting dislocation = higher greater trochanter, wide perineum, asymmetrical gluteal buttock crease, short leg, abnormal gait
b. Treatment = open reduction operation increased risk of early arthritis
Perthe’s disease - general
- Overview
a. Specific hip disease of childhood
b. Avascular necrosis of the capital femoral epiphysis of the femoral head due to interruption of the blood supply
c. Sequence of changes including resorption of necrotic bone, re-ossification and remodeling (over 18-36 months)
d. Affected children have a generalised disorder of growth with a tendency to low birth weight and delayed bone age - Epidemiology
a. Age range = 2-12 years, but majority between 4-8 years
b. Sex ratio = 5 males to 1 female
c. 20% bilateral - Associations
a. Family history, Low birth weight - Clinical features
a. Symptoms = pain + limp, usually for at least 1 week
i. Usually insidious presentation
b. Signs = restriction of hip movement, tender over anterior thigh, +/- flexion contracture - Investigations
a. X-ray
i. Increased density of the capital epiphysis patchy osteolysis new bone formation + remodeling with a variable degree of femoral head deformity
b. Bone scan or MRI = useful in early stage before the signs are clear on radiograph - Management principles
a. Resting the hip in the early irritable phase
b. Regaining motion if the hip is stiff
c. Containing the hip by bracing or surgery in selected patients - Prognosis
a. Dependent on early diagnosis
b. If identified early, and less than half the femoral head is affected, only bed rest and traction may be required
c. In more severe disease or late presentations
i. The femoral head needs to be covered by the acetabulum to act as a mold for the re-ossifying epiphysis
ii. Options - Maintain the hip in abduction with plaster or calipers
- Performing femoral or pelvic osteotomy
Slipped capital/upper femoral epiphysis - general
- Overview
a. Results in displacement of the epiphysis of the femoral head postero-inferiorly requiring prompt treatment in order to prevent avascular necrosis (essentially type 1 Salter-Harris epiphyseal injury at proximal hip)
b. Early detection will prevent later morbidity
c. Association with hypothyroidism and hypogonadism - Epidemiology
a. Age = occurs in late childhood to early adolescence (9-16 years)
b. 60% male
e. Bilateral in 20% - Risk factors
a. Male
b. Obese - Clinical presentation
a. History
i. Pain in hip or knee (often pain only in the knee)
ii. Limp
iii. Onset - Acute = following minor trauma (child feels the hip ‘collapse’ and is unable to walk)
- Acute on chronic - child has months of discomfort then a worsening over weeks with a pronounced limp
- Insidious / chronic = many months of thigh ache and a mild limp
b. Examination
i. Appearance = hip appears externally rotated and shortened
ii. Palpation = tender over joint capsule
iii. Decreased ROM – particularly internal rotation + abduction
v. If chronic – Trendelenberg sign of affected side (d/t weakened gluteal muscles)
vi. Whitman’s sign = with flexion there is an obligate external rotation of the hip - Investigation
a. X-ray = pelvis + frog-leg lateral of the affected hip - Treatment
a. No weight-bearing if the diagnosis is considered
b. Urgent orthopaedic referral and surgery to prevent further slipping
Painful knee - differentials
- Osgood-Schlatter disease
- Chondromalacia patellae
- Osteochondritis dissecans (segmental avascular necrosis of the subchondral bone)
- Subluxation and dislocation of the patella
- Injury
- Hip pain – referred
Osgood-Schlatter - general
- Overview + pathophysiology
a. Osteochondritis of the patellar tendon insertion at the knee
i. Repetitive tensile strength on insertion of patellar tendon over the tibial tuberosity causes minor avulsion at the site + subsequent inflammatory reaction (tibial tubercle apophysitis)
b. Often affects adolescent males who are physically active (basketball, football) 10-14 years
c. Natural history – resolution over 12-18 months
i. Lump will be permanent but will be smaller than when first seen
d. Bilateral in 20-25% - Presentation
a. Knee pain, after exercise
b. Localised tenderness
c. Sometimes swelling over the tibial tuberosity
d. Associated hamstring tightness - Diagnosis =clinical; radiography NOT required
- Treatment
a. Rest – knee immobilizer splint may be helpful [normal activities within the limits of child’s comfort allowed]
b. Physiotherapy – quadriceps strengthening, hamstring stretches
c. Orthotics
Chondromalaciae patellae - general
• Softening of the articular cartilage of the patella
• Common >10 years; spontaneously resolves over 1-2 years in 90% of patients
• Most often affects adolescent females, causing pain when the patella is tightly apposed to the femoral condyles (activities which cause flexing of the knee and quadriceps contraction)
o As in standing up from sitting
o Walking up stairs
• Examination – often little to find; may be patellofemoral crepitus or mild effusion
• Ensure hips are normal and symptoms do not relate to slipped hip
• Often associated with hypermobility and flat feet
• Treatment
o Rest
o Some limitation of flexed knee/ jumping activities
o Physiotherapy – quadriceps strengthening, elastic knee support
Osteitis dessicans - general
• Presents as persistent knee pain in the physically very active adolescent, with localised tenderness over the femoral condyles
• Pain is caused by separation of bone and cartilage from the medial femoral condyle following avascular necrosis
• Complete separation of the articular fragments may result in loose body formation and symptoms of knee locking or giving way
• Treatment
o Rest
o Physiotherapy – quadriceps exercises
o Arthroscopic surgery
Patellar subluxation/dislocation - general
• Subluxation of the patella produces the feeling of instability or giving way of the knee
• It is often associated with generalised hypermobility
• Rarely, dislocation of the patella can occur, usually laterally, suddenly and with severe pain
• Reduction occurs spontaneously or on gentle extension of the knee
• Treatment
o Physiotherapy – quadriceps exercises
o Surgery – may be required to realign the pull of the quadriceps on the patellar tendon
Arthrogryposis - general
- Key points
a. Arthrogryposis multiplex congenita = heterogenous group of muscular, neurologic and connective tissue anomalies that are present with 2 or more joint contractures at birth as well we muscle weakness
b. Associated with abnormal contraction of muscle fibres
c. Not a specific diagnosis – descriptive term
Nonprogressive disorder with congenitall rigid joints, impaired motor function and preserved sensation.
- Aetiology
a. Nervous system disorders
b. Distal arthrogryposis syndromes
c. Pterygium syndromes
d. Myopathies
e. Abnormalities of joints and contiguous tissues
f. Skeletal disorders
g. Intra-uterine/ maternal factors
h. Miscellaneous - Treatment
a. Physiotherapy
b. Bracing
c. Surgery
Congenital talipes equinovarus - general
= club foot
- Overview
a. Most children with abnormal-looking feet are said to have ‘talipes’
i. Majority have postural problems such as talipes calcaneovalgus (excessive dorsiflexion and eversion), metatarsus varus (adduction of forefoot) or postural talipes equinovarus
ii. These deformities are mild and mobile; correct easily and fully with pressure of one finger
iii. Resolve spontaneously with no treatment
b. True ‘club foot’ or congenital talipes equinovarus
i. Commonest congenital abnormality of the foot (1/1000, 2 male: 1 female)
ii. Condition is bilateral in 40% of cases, 2% chance of subsequent child being affected - Aetiology
a. Intrinsic = neurological, muscular, or CT disease
b. Extrinsic = intrauterine growth restriction
c. Idiopathic
d. Neurogenic
e. Syndrome-associated - Deformity
a. Degree of each deformity is variable, but all are rigid and are incapable of being fully corrected manually
i. Talipes = talus is inverted and internally rotated
ii. Equinus = ankle is plantar flexed
iii. Varus = heel and forefoot are in varus (supinated) - Examination – look for
a. DDH
b. Deformity
c. Dysraphism (unfused vertebral bodies) - Treatment
a. Start treatment in the first week of life
i. Serial plaster casting by Ponseti method for 6 weeks
ii. Achilles tenotomy followed by cast for a further 4 weeks
iii. ‘Boots and bars’ until the age 4 years
b. Later tendon surgery may be required
c. Bone surgery required in few
Lower limb torsion/angular deformities - bg
- Most lower limb deformities in children are physiological and correct with growth
- Suspect pathology if painful, age inappropriate or asymmetrical
• Normal:
o Varus at birth, zero around 2yo, valgus at 3yo then gradually improve to approx. 5-6% valgus by age 7 for life
o Bow legs generally in-toe
Intoeing - general
- Key points
a. Normal foot progression angle is 10-15 degrees
b. If in-toe, generally maintain arch; if out-toe, flatten arch
c. Need to consider age, anatomical level (i.e. where the problem is), then severity and natural history - Classification
a. Metatarsus adductus
i. Banana shaped foot with metatarsals turned in i.e. concave medial border of foot
ii. NOTE: forefoot only, hooked in relative to hindfoot – different to club foot, which is both forefoot and hindfoot
iii. Related to posture in utero
iv. Treatment
1. Mild and mobile will normally spontaneously correct
2. Rigid or more severe: stretching exercises (3-6 months), sleep supine; may need plaster/ corrective shoes/ surgery
v. Good prognosis
b. Internal tibial torsion
i. Tibia twisted in – torsion beneath the knee
ii. Often presents in toddlers but related to posturing in utero i.e. present from birth
iii. Often 6yo boys catching feet when they run
iv. Most just alter sleeping habits and observe – spontaneously correct by 3-4yo
1. Follow up at 2½yo – consider splint/ night time bracing (9 months) / surg if nothing by age 3
c. Femoral anteversion
i. Torsion above knee; feet and knees both turned in
ii. School age, normally girls up to adolescence – very common
iii. Increased internal rotation at hip, decreased external
iv. Treatment = observe
- Treatment
a. When to refer
i. Outside of normal age limits
ii. Not resolving over time – may continue to change 8-12yo
iii. Asymmetrical rotation
iv. Functional difficulties
v. Neuromuscular concerns – check reflexes and tone, this may be first presentation of spastic diplegia
b. Parental advice
i. Majority resolve with no long term sequelae
ii. Orthotics ineffective
iii. Avoid ‘W’ or feet sitting
Out-toeing - general
• Infants and toddlers have restricted internal rotation at the hip because of external rotation soft tissue contracture not retroversion of the femur
• Infants
o Present with Charlie Chaplin posture between 3-12 months
o The child weight-bears and walks normally
o Resolution occurs with no treatment
• Children
o May be due to neurologic disorder
o Surgery may be necessary
Genu varum - general
- Key points
a. Commonly <1 months
b. Often family history
c. Waddling gait - Examination
a. Gait
b. Rotational profile
c. Measure femoro-tibial angle - sharp angle pathological
d. Symmetry - Aetiology
a. Physiological
i. Majority
ii. Toddlers usually bowed until 3 years of age
iii. Symmetrical, not excessive, improves with time
b. Pathological
i. Distance between medial condyles of knees (intercondylar separation) >6cm, is not improving, or is asymmetric
ii. Age inappropriate, i.e. 3yo +
iii. Rare causes (skeletal dysplasia, rickets) - When to refer
a. Severe deformity or asymmetric deformity
b. >2yo
c. Associated conditions
Genu valgum - general
- Classification
a. Physiological
i. Majority
ii. Knock-need from 3-5 years
iii. Symmetrical, not excessive, improves with time
iv. Generally present as look awkward – cosmetic
v. Usually have flat feet, associated with intorsion
vi. Can result in knee pain
b. Pathological
i. Intermalleolar separation >8cm
ii. Rare causes (metabolic bone disease, rickets, post trauma, skeletal dysplasia, asymmetric growth) - When to refer
a. Severe deformity or asymmetric deformity
b. Increased valgus >8yo
c. Associated conditions - Treatment
a. Fix underlying pathology e.g. metabolic, Vit D
b. Consider orthotics, surgery in older children
c. Orthotics rarely helpful, surgery
Pes plano valgus - general
= flat feet
- Key points
a. Very common ~20% - normal!
i. Excessive heel eversion
ii. Lack of arch
iii. Forefoot abduction
b. Physiological in toddlers i.e. under 2yo – haven’t developed arch yet
i. Reassure - 80% develop medial arch by 6th birthday - Aetiology
a. Physiological – no referral required
b. Painless – ligamentous laxity and calf tightness, paralytic foot
c. Painful – tarsal coalition, accessory navicular, subtalar irritability - Classification
a. Mobile / flexible
i. Normal <6 years
ii. Features
1. Bear weight on heal, medial border
2. Heals in valgus alignment
3. Stand on toes: heal valgus spontaneously corrects and they develop an arch to their feet
iii. Common: often due to underlying ligament laxity
iv. Inherited, pain free, no disability
v. Improves with growth – reassure
vi. Orthotics no benefits
b. Rigid
i. Features = remain in valgus on toes
ii. Almost always tarsal coalition resulting in stiff subtalar joints
iii. Rare, painful
iv. Generally, 10-13yo, active children
vi. Require investigation, +/- orthopaedic surg
- When to refer
a. Stiff, painful or congenital
b. Orthotics
i. No evidence to support use
Spondylosis and spondylolisthesis - general
i. Definitions
1. Spondylosis is unilateral or bilateral defect (separation) in the vertebral pars interarticularis, usually in L5
2. Spondylolisthesis occurs when bilateral defect permits the vertebral body to slip anteriorly (slipped disc)
3. Spondylosis to spondylolisthesis in 15% of cases
4. Spondylosis is common (6%) particularly in atheletes
ii. Clinical features
1. Presents in early adolescence
2. Aching low back pain that is exacerbated by hyperextension and relieved by rest – pain may extend into the buttocks and posterior thighs
3. Acute low back pain if fracture through with pain radiating down legs
iii. Examination findings
1. Lumbosacral tenderness, particularly on extension
2. Hamstring tightness
v. Treatment
1. Rest and lumbar bracing
2. Surgical fusion if intractable pain or slippage of greater than 50%
Scoliosis - general
- Definition = lateral curvature of the spine with vertebral rotation
Prevalence up to 3/100 (curves 10-30 degrees)
Girls>boys
3D deformity
X-linked and AD inheritance, hormonal factors
Idiopathic (most common 90%), neuromuscular, congenital, hysterical, functional, mixed
Infantile 0-3
Juvenile 3-10
Adolescent >10 (most common - 80-85%)
Features
- back pain
- asymmetry of shoulder, pelvis
- Adams forward bend test shows a rib prominence to the side of the curve
- lateral deviation of the head is measured from the natal cleft by dropping a plumb line from the C7 vertebra
- lower limb lengths should be assessed for true vs apparent limb-length discrepancy
- truncal shift should be assessed
- assess for associated features (CALM e.g. NF, spinal dysraphism, joint laxity)
- full neuro exsam
vii. If the curve disappears completely when the child bends forward, it can be labeled ‘postural’ and treatment is not required
viii. Should a rib hump become visible (due to rotation of the vertebra and deformity of the rib) the curve is labeled ‘structural’
Ix
- XR whole spine
- MRI/CT
Rx
- assessment by paed spinal surgeon (esp if >20 degrees)
- observe if mild e.g. <20 degrees, unlikely to progress after 15 years of age
- bracing (controversial)
- surgery +/- spinal fusion
- treat any intraspinal abnormalities (e.g. dysraphism) before attempting correction
Neonatal bilious vomiting - differentials
- Surgical
a. Malrotation with midgut volvulus
b. Intestinal atresia = duodenal atresia, jejunoileal atresia
c. Meconium ileus
d. Necrotising enterocolitis
e. Hirschsprung’s disease - Non-surgical
a. Sepsis
b. Meningitis
c. Omphalitis
d. Reflux
Exomphalos/omphalocele - background
An omphalocele is a midline abdominal wall defect (absent skin, fascia, abdominal muscles) of variable size at the base of the umbilical cord. The defect is covered by a three-layer membranous sac consisting of amnion, Wharton’s jelly, and peritoneum. The cord/umbilical vessels insert at the apex of the sac, which typically contains herniated abdominal contents. Omphaloceles are categorized as either non-liver-containing (containing bowel loops) or liver-containing.
- Key points
a. Triad of features
i. Midline abdominal wall defect of variable size – most commonly at the cord insertion site
ii. Covered by membrane of amnion and peritoneum (with Wharton’s jelly between the two layers)
iii. Contains abdominal contents
b. Sac is translucent at birth but quickly becomes opaque as it desiccates
c. The abdominal cavity is proportionately small because the impetus to grow and develop is deficient
d. The size of the sac that lies outside the abdominal cavity depends on its contents
i. Herniation of intestines = 1/5,000 births,
ii. Herniation of liver and intestines = 1/10,000 births
e. NOTE: defects <2cm diameter considered hernias of umbilical cause; no associated anomalies or genetic syndromes - Classification
a. Minor = gut only
i. Primary reduction, closure
ii. Unless complex neonate eg. cardiac
b. Major = liver also
i. Injudicious reduction may cause damage/ death (due to potential to kink vessels/liver) - Associated abnormalities
a. 75% of infants with omphalocele have associated congenital anomalies/ syndromes
i. Fetuses with omphalocele containing liver typically have a normal karyotype
ii. If liver entirely intracorporeal risk of aneuploidy higher
b. Beckwith-Wiedemann syndrome = omphalocele + macrosomia + hypoglycaemia
c. Other chromosomal anomalies = T13, T18
d. Other isolated congenital anomalies = musculoskeletal (25%), urogenital (20%), cardiovascular (15%), CNS (10%)
Exomphalos/omphalocele - ix, rx
- Investigations
a. Prenatal USS = by the end of the first trimester (11-14 weeks) almost all omphaloceles can be detected
b. Fetal genetic studies
c. Testing for Beckwith-Wiedemann syndrome
d. Fetal echo - Treatment
a. Supportive
i. Sterile wrapping of the bowel to preserve heat and minimize insensible fluid loss
ii. Insertion of an orogastric tube to decompress the stomach
iii. Stabilizing the airway to ensure adequate ventilation
iv. Establishing peripheral intravenous access
v. Positioning left-side down right-side up if low blood pressure, tachycardia, or dusky bowel appearance suggesting vascular compromise
b. Surgery
i. Requires immediate surgical repair – prevent infection + damage of tissue - Outcome
a. Survival rate 80% overall
b. Isolated omphalocele >90%
c. Recurrence risk depends on cause – most cases are sporadic
Exomphalos/omphalocele - ddx
- DDx = Gastroschisis
a. Membranous sac key differentiating feature (NOT present in gastroschisis)
b. Cord insertion site is umbilical in omphalocele and para-umbilical in gastroschisis
Umbilical cord hernia – In an umbilical cord hernia, the umbilical cord inserts normally into the umbilical ring, which is surrounded by intact skin and is typically <2 cm in diameter, whereas in an omphalocele, the cord inserts into a membranous sac that covers a large abdominal wall defect occupying the area of the umbilical ring. Like an omphalocele, umbilical cord hernias can contain bowel, but in contrast to omphaloceles, they are not associated with an increased risk for anomalies or genetic syndromes.
Gastroschisis - bg
- Key points
a. Small defect immediately to the right of the umbilicus through which bowel (and sometimes gonads) herniate
b. No covering sack
c. The eviscerated small + large bowel is thickened and densely matted with exudate as a result of amniotic peritonitis before birth
d. Serum AFP elevated in all pregnancies
e. Pregnancy complications = IUGR, fetal demise, spontaneous preterm birth, bowel thickening and dilatation - Associated malformations
a. 10% associated with malformations
b. 25% have gastrointestinal comorbidities – atresia, stenosis, perforation, necrosis, malrotation, volvulus
c. Abnormal karyotype in 1% of cases – isolated gastroschisis NOT associated with aneuploidy - Risk factors
a. Inverse association between maternal age and fetal gastroschisis – highest prevalence in women <20 years
Gastroschisis - ix, rx, outcomes
- Investigations
a. Prenatal USS = visualisation of Paraumbilical abdominal wall defect + Paraumbilical defect
b. Serum AFP
c. Combination of USS + AFP detects 90% of cases - Treatment
a. Supportive - Complication
a. Supportive
i. Infants have significant risk of hypothermia, and exposed viscera should be wrapped in clear plastic wrap to prevent evaporative heat loss
b. Surgery
i. Returning the bowel to the peritoneal cavity and repairing the defect
ii. Reduction = primary vs staged (silo)
iii. Closure = operative vs non-operative
iv. After surgical repair the bowel may take many weeks to function normally (often long term issues) - Outcome
a. Overall survival 90%
b. 10% of cases are complex
Congenital diaphragmatic hernia - bg
- Key points
a. Diaphragmatic hernia = communication between the abdominal and thoracic cavities with or without abdominal contents in the thorax
b. Most commonly congenital
c. Visceral herniation occurs during critical period of lung development (bronchi + pulmonary arteries undergoing branching); from week 3 to 16
d. Classification
i. Hiatal = esophageal hiatus
ii. Paraesophageal = adjacent to hiatus
iii. Retrosternal = Morgagni
iv. Posterolateral = Bochdalek referred to as CDH - 80-90% occur on left side
e. Associated anomalies = Up to 30% of cases – CNS, esophageal atresia, omphalocele, CV lesions
f. Associated syndromes = T21, 18, 13, Fryns, Brachmann-de Lange, Pallister-Killian, Turner - Epidemiology
a. 1/2000 to 1/5000 births
b. Females affected twice as common
Congenital diaphragmatic hernia - sx
- Clinical presentation
a. Neonatal
i. Respiratory distress
ii. Scaphoid abdomen*** and increased chest wall diameter
iii. Bowel sounds may be audible in the chest
iv. Maximal cardiac impulse deviated away from hernia
b. Childhood
i. Rarely present beyond
ii. May present with vomiting as a result of intestinal obstruction or mild respiratory symptoms - Consequences
b. Pulmonary hypoplasia
i. Major limiting factor for survival
iii. The resulting pulmonary hypoplasia results in severe respiratory distress within minutes of birth and in some neonates is not compatible with long term survival
iv. The more severe the lung hypoplasia, the earlier the neonate becomes symptomatic + the poorer the prognosis
c. Malrotation
d. Cardiac dextroposition - Investigations
a. Antenatally with U/S
i. Diagnosed on prenatal USS between 16-24 weeks gestation in >15% of cases
ii. USS findings = polyhydramnios, chest mass, mediastinal shift, gastric bubble, liver in thoracic cavity, fetal hydrops
b. CXR at birth
i. Loops of bowel in the left thoracic cavity
ii. Heart displaced to the contralateral side
Congenital diaphragmatic hernia - rx, cx
- Treatment
a. Intubation + ventilation
i. Bag + mask ventilation may exacerbate respiratory distress by distending the bowel
ii. Volutrauma is a significant problem
v. HFOV can be used early to prevent lung injury
b. Decompression of bowel with NG tube
c. CXR + Echo
d. Treat pulmonary HTN = PG, iNO, sildenafil (want PDA open)
e. ECMO = used in neonates who failed conventional ventilation or HFOV
f. Operative repair
i. Ideal time to repair debatable – most wait 48 hours after stabilisation and resolution of pulmonary hypertension - Outcome
a. Overall survival 67%
b. Spontaneous fetal demise 7-10% - Long-term complications
a. Pulmonary = major source of morbidity for long-term survivors
i. Chronic lung disease + respiratory infections
b. Gastro-esophageal reflux disease = >50%
i. More common in those whose defect involves the esophageal hiatus
c. Intestinal obstruction = 20%
d. Recurrent hernia = 5-20%
i. Highest risk in those with a patch
e. Delayed growth in first 2 years of life
f. Neurocognitive defects (inc risk with ECMO)
g. Pectus excavatum + scoliosis
Diaphragmatic eventration - general
• Elevation of a portion of the diaphragm that is intact, but thinned due to incomplete muscularisation
o Results in paradoxical motion of the affected hemidiaphragm
o May form a ‘sac’ that contains the abdominal contents and is displaced into the thorax
• Most asymptomatic and do not require repair
• Although severe diaphragmatic eventration can be associated with pulmonary hypoplasia and respiratory distress during infancy, the presence of a sac is generally associated with a better prognosis than classical CDH
• Nelsons: congenital eventration may affect lung development but it has not been associated with pulmonary hypoplasia
Oesophageal atresia - general
- Definition
a. Represents failure of the oesophagus to develop as a continuous passage, instead develops as a blind pouch
b. Congenital abnormality in which the mid-portion of the esophagus is missing
c. In most there is an abnormal communication between the trachea and the lower esophageal segment, called a distal tracheo-esopahgeal fistula - Associated abnormalities
a. 50% of infants have other congenital abnormalities
i. VACTERL association – vertebral, anal, cardiac, renal and limb abnormalities
b. Major chromosomal abnormalities seen in 5% - trisomy 18, trisomy 21 - Clinical presentation
a. Polyhydramnios – occurs in 2/3 of pregnancies
ii. Absent stomach (PPV 55%)
b. Symptomatic immediately after birth
i. Secretions causing drooling, choking and respiratory distress (+/- desaturation)
ii. Inability to feed - Investigations
a. Pass large, firm catheter (10Fr) through the mouth - cannot be passed more than 10cm from the gums
b. X-ray torso
i. Gas in the bowel = distal tracheo-esophageal fistula
ii. Absent gas = esophageal atresia OR esophageal atresia with proximal fistula - Treatment
a. Regular suctioning of upper esophageal pouch to prevent aspiration
b. Tracheo-esophageal fistula divided
c. Esophageal ends are anastamosed at time of surgery to close fistula
Tracheoesophageal fistula - bg
- Key points
a. Represents an abnormal opening between the trachea and oesophagus
b. Common congenital abnormality
c. Incidence of 1 in 3500 to 1 in 4500 live births
d. Type C – proximal esophageal pouch and distal TEF = most common
e. Pure esophageal atresia second most common - Associated conditions
a. VACTERL (require 3 to be VACTERL – ‘TE’ = 1)
b. CHARGE, T21, T18, T13
c. Goldenhar, Feingold, many others
d. Congenital heart defects
e. Genitourinary defects
Tracheoesophageal fistula - sx, dx
- Clinical manifestations
a. Dependent on presence or absence of esophageal atresia
b. Features include
i. Vomiting, coughing, gagging
ii. Cyanosis with feeds
iii. Respiratory distress
iv. Recurrent pneumonia
v. Frothy bubbles of mucous in mouth and nose
c. Presence of esophageal atresia
i. Polyhydramnios occurs in 2/3 of pregnancies
ii. Symptomatic immediately after birth with excessive secretions drooling, choking, respiratory distress, inability to feed
iii. Fistula between the trachea and distal esophagus gastric distension
iv. Reflux of gastric contents through the tracheo-esophageal fistula aspiration pneumonia
d. H type tracheo-esophageal fistula
i. May present early if defect large – coughing and choking associated with feeding as milk is aspirated through the fistula
ii. Smaller defects – may not be symptomatic in the newborn period - Prolonged history of mild respiratory distress associated with feeds
- Recurrent episodes of pneumonia
- Diagnosis
a. Attempt to pass catheter into the stomach – cannot be passed further than 10-15 cm
b. Distal tracheo-esophageal fistula – gas filled gastrointestinal tract
c. Investigations = for VACTERL/syndrome Ix
i. CXR = vertebral bodies, ribs, cardiac silhouette
ii. Thymus = 22q11.2
iii. Echo
iv. Renal USS
v. Spinal USS + head USS as indicated
Tracheoesophageal fistula - rx, cx
- Treatment
a. Pre-operative
i. Respiratory support
ii. Beware gastric dilatation with respiratory support
iii. Upper pouch drainage (suction, repogyle)
b. Operative - Complications
a. Pneumonia
b. Sepsis
c. Reactive airway disease
d. Following repair
i. Esophageal stenosis + strictures
ii. GERD
iii. Poor swallowing – dysphagia, regurgitation
e. PURE esophageal atresia has the worst prognosis
Pyloric stenosis - bg
- Key points
a. Hypertrophy of the circumferential muscle layer of the pyloric sphincter leading to gastric outlet obstruction
b. Occurs in 2 to 3.5 per 1000 live births
c. Hyperbilirubinaemia occurs in 15% - Risk factors
a. More common in first born males (males to females 4:1)
b. Tracheoesophageal fistula
c. Maternal history of pyloric stenosis
d. Maternal smoking
e. Macrolide antibiotics (azithromycin, erythromycin)
Pyloric stenosis - sx
- Clinical presentation
a. Presents between age of 2 and 6 weeks of age
b. Symptoms
i. Nonbilious emesis
ii. Projectile vomiting after most or all feeds
iii. Malnutrition and dehydration
iv. Hunger after feeding
v. Failure to thrive, weight loss, constipation, decreased stooling
vi. May have prolonged jaundice
c. Signs
i. Dehydrated, scrawny infant
ii. Palpable olive shaped, mobile, non-tender epigastric mass/RUQ
iii. Visible peristalsis – from L) costal margin to the R) hypochrondrium visible long after the last feed - Metabolic complications = hypochloraemic hypokalaemic metabolic alkalosis
a. Vomiting in these infants results in loss of gastric water (water + HCl)
i. The kidneys initially conserve H+, but once the baby becomes dehydrated, water and Na+ are conserved in exchange for K+ and H+
ii. Results in hypovolaemia with alkalosis, low chloride and potassium
iii. Even if serum K+ is normal, there is total body potassium deficiency
b. Metabolic alkalosis is only present in significant cases
c. Inappropriate rehydration with low sodium containing fluids can result in cerebral edema
d. Urinary excretion of H and K to preserve Na and fluid
