Paediatric Orthropaedics Master Deck Flashcards
What is osteogenesis imperfecta?
AKA brittle bone disease
Caused by a defect of maturation and organisation of type 1 collagen
Describe the inheritance of osetogenesis imperfecta
Usually, autosomal dominant with multiple fragility fractures of childhood, short stature with multiple deformities, blue sclerae and loss of hearing
Rarer cases are autosomal recessive and are either fatal in the perinatal period or assoc. with spinal deformity
What can osteogenesis imperfecta be mistaken for?
Multiple fractures can be mistaken for child abuse/non-accidental injury
Structure of bones in osteogenesis imperfecta?
Bones tend to be thin, with thin cortices and osteopenic; fractures tend to heal with abundant but poor quality callus
Mild cases may have normal X-rays with a history of low energy fractures
Treatment of osteogenesis imperfecta?
Fractures require splintage, traction and surgical stabilisation
What is skeletal dysplasia?
Medical term for short stature and is due to a genetic error (hereditary/sporadic mutation) resulting in abnormal development of bone and connective tissue
What is the most common skeletal dysplasia?
Achondroplasia (may be autosomal dominant but most cases are sporadic)
It causes disproportionately short limbs with a prominent forehead and widened nose; joints are lax and mental development is normal
Congenital causes of connective tissue disorders?
Due to genetic disorders of collagen synthesis (mainly type I found in bone, tendon and ligaments) resulting in joint hypermobility
CTDs affect soft tissues more than bone
Describe generalised (familial) joint laxity
Hypermobility of the joints (usually runs in families and is autosomal dominant)
More prone to soft tissue injuries and recurrent dislocation of joints, esp. shoulder and patella
What is Marfan’s syndrome?
Autosomal dominant or sporadic mutation of the fibrillin gene results in tall stature, disproportionately long limbs and ligamentous laxity
Assoc. features with Marfan’s syndrome?
High arched palate, scoliosis, pectus excavatum, lens dislocation, retinal detachment, aortic aneurysm and cardiac valve competence
Premature death due to cardiac abnormalities
Treatment of Marfan’s syndrome?
Surgery is rare as biological abnormality cannot be detected
What is Ehlers-Danlos syndrome?
Heterogeneous condition which is often autosomal dominant, causing abnormal elastin and collagen formation
There are more than 10 types
Clinical features of Ehlers-Danlos syndrome?
Profound joint hypermobility
Vascular fragility, with ease of bruising, joint instability and scoliosis
Treatment of Ehlers-Danlos syndrome?
Bony surgery for dislocating joints however bleeding can be a problem and skin healing may be poor (stretched scars or wound dehiscence)
MSK manifestations of Down’s syndrome?
Short stature and joint laxity with possible recurrent dislocation, esp patella
Atlanto-axial instability in the cervical spine may also occur
What are the muscular dystrophies?
Rare and usually X-linked recessive hereditary disorders, resulting in progressive muscle weakness and wasting
Affects only BOYS
What is Duchenne muscular dystrophy?
Defect in the dystrophin gene inv. in Ca transport results in muscle weakness which may only be noticed when the boy starts to walk and has difficulty standing and going upstairs (Gower’s sign)
Progression of DMD?
Progressive muscle weakness follows and by the age of 10 or so he can no longer walk and by age 20 progressive cardiac and respiratory failure develop with death typically in the early 20s
Diagnosis of DMD?
Raised serum creatinine phosphokinase
Abnormalities on muscle biopsy
Treatment of DMD?
Physiotherapy, splintage and deformity correction may prolong mobility
Severe scoliosis may be corrected with spinal surgery
How do upper motor neuron (brain and spinal cord) causes of neuromuscular disorders present?
Weakness, spasticity, hyperreflexia and an extensor plantar response (Babinski sign)
How do lower motor neuron (affecting anterior horn cells, nerve roots or peripheral nerve) causes of neuromuscular disorders present?
Weakness, reduced tone and hypo/areflexia
What is cerebral palsy?
NM disorder with onset before 2‐3 years of age, due to an insult to the immature brain before, during or after birth
Causes inc. genetic problems, brain malformation, intrauterine infection in early pregnancy, prematurity, intra‐cranial haemorrhage, hypoxia during birth and meningitis
Signs and symptoms of cerebral palsy?
Range from mild and limited to one limb OR can be total body inv. with profound learning difficulties
Developmental milestone may be missed and the ability to ambulate or perform normal tasks may be impaired
What is spina bifida?
Congenital disorder where the two halves of the posterior vertebral arch fail to fuse; there are different forms, ranging from mild to severe
Types of spina bifida?
Spina bifida occulta (mildest form) - may have no assoc. problems but some people can develop tethering of the spinal cord and roots, leadin to a high-arched foot and clawing of the toes
Spina bifida cystica (most severe form) - contents of the vertebral canal herniate through the defect, with either herniation of the meninges alone (meningocoele) OR with the spinal cord/cauda equina
What is polio and how does it caused NM disorders?
AKA poliomyelitis - viral infection affecting motor anterior horn cells in the spinal cord or brainstem, resulting LMN deficit
Vaccination has made encounters uncommon
Describe obstetric brachial plexus injury
Brachial plexus injury during vaginal delivery most commonly arises in large babies, twin deliveries, etc
Types of obstetric brachial plexus injury?
Erb’s palsy (most common) - injury to C5 & 6 nerve roots results in loss of motor innervation to the deltoid, supraspinatus, infraspinatus, biceps and brachialis muscles; this causes internal rotation of the humerus, leading to a Waiter’s tip posture
Klumpke’s palsy (rare) - injury to C8 & T1 causes paralysis of intrinsic hand muscles, etc; the fingers are flexed, producing a “claw” hand
Total brachial plexus palsy - poorest prognosis
Treatment of Erb’s palsy?
Physiotherapy is used early to prevent contractures
Surgical release of contractures and tendon transfers may be required if there is no recovery
Treatment of Klumpke’s palsy?
No specific treatment
What are some of the normal developmental milestones for babies?
Sits alone, crawls – 6‐9 months
Stands – 8‐12 months
Walks – 14‐17 months
Jumps – 24 months
Manages stairs independently – 3 years
What are some of the landmarks of neurological development for babies?
Loss of primitive reflexes (moro reflex, stepping reflex, rooting, grasp reflex, fencing posture etc) by 1‐6 months
Head control – 2 months
Speaking a few words – 9‐12 months
Eats with fingers, uses spoon – 14 months
Stacks four blocks – 18 months
Understands 200 words, learns around 10 words/day ‐ 18‐20 months
Potty trained – 2‐3 years
Describe normal lower limb development
At birth - VARUS knees (BOW knees)
These become neutrally aligned at around 14 months, progressing to 10-15 degrees VALGUS (knock-knees) at 3 years
This gradually regresses to physiologic valgus of 6 degrees
Treatment of childhood varus or valgus knees?
Reassurance as most develop normal alignment
Some develop minor degrees of varus or valgus alignment (often familial)
Describe the appearance of valgus and varus DEFORMITY and potential causes
Varus deformity - larger gap between the knees
Valgus deformity - larger gap that normal between the feet/ankles
Most cases are idiopathic, some are familial and others have an underlying skeletal disorder, e.g: skeletal dysplasia, Blount’s disease
Treatment of valgus and varus deformities?
Majority of cases of bowed-legs or knock-knees resolve by the age of 10; genu varum of excessive genu valgum after the age of 10 may require surgery
What is Blount’s disease?
Growth disorder of the medial proximal tibial physis, causing marked and persistent genu varum
Treatment of Blount’s disease?
Surgical correction
Condition may occur in adolescence so growth plate restriction on the medial side with a small plate and screws is used
Rare causes of pathologic genu varum?
Rickets
Osteochondromas (tumours)
Traumatic physeal injury
Skeletal dysplasia
Consequences of persistent genu varum?
Risk of early onset medial compartment OA
Causes of pathological genu valgum?
Rickets
Enchondromatosis (tumours)
Trauma
Neurofibromatosis
Can be idiopathic
Treatment of patholofical genu valgum?
Excessive deformities can be corrected by osteotomy of growth plate manipulation surgery
What is in-toeing?
Child who, when walking and standing, will have feet that point toward the midline; abnormality is often exaggerated when running and children may be “clumsy” and wear through shoes at an alarming rate
There are a number of causes
What is femoral neck anteversion?
In normal anatomy, the femoral neck is slightly anteverted (pointing forwards)
Excess femoral neck anteversion can give the appearance of in‐toeing (as well as knock-knees); however, the degree of apparent in‐toeing is not of a magnitude which would warrant surgical intervention.
What is internal tibial torsion?
Tibia can be rotated inward about its vertical axis; this is a normal variation and should be ignored
What is forefoot adduction?
Can cause apparent in-toeing; surgery should not be considered before 7-8 years, as most resolve by this time
What are flat feet?
Part of the normal variation as, at birth, all feet are flat and tend to not reflect underlying pathology; on walking, muscle develop and so the arches of the feet will develop
Although, some have persistent flat feet into adulthood but have no functional problems
How to assess flat feet?
Determine if the flat feet are:
Mobile/flexible - flattened medial arch forms with dorsiflexion of the great toe (Jack test); this can be related to ligamentous laxity (familial or idiopathic) and ia normal variant
Fixed/rigid - arch remains flat regardless of load or great toe dorsiflexion; there is an underlying bony abnormality, like tarsal coalition, and may require surgery
What is tarsal coalition?
Bones of the hindfoot have an abnormal bony or cartilaginous connection
What are curly toes? Treatment?
Minor overlapping of the toes and curling is common (5th toe is most common)
Most will correct without intervention but they may cause shoe discomfort; persistent cases in adolescence may require surgical correction
4 types of paediatric hip problems?
- Developmental Dysplasia of the Hip (DDH)
- Transient synovitis of the hip
- Perthes disease
- SUFE (Slipped Upper Femoral Epiphysis)
What is developmental dysplasia of the hip?
Dislocation/subluxation of the femoral head during the perinatal period, affecting subsequent development of the hip joint
Occurrence of DDH?
More common in girls
More common in the left hip, although it can be bilateral
Risk factors of DDH?
+ve family history of DDH
Breech presentation
First-born babies
Down’s syndrome
Presence of other congenital disorders, e.g: talipes (club foot)
Consequences of untreated DDH?
Acetabulum is very shallow and, in severe cases, a false acetabulum occurs proximal to the original one with a shortened lower limb
Severe arthritis, due to reduced contact area, can occur at a young age
Gait/mobility may be severely affected
Signs of DDH on hip examination?
Shortening, asymmetric groin/thigh skin creases and a click or clunk on the Ortolani or Barlow manoeuvres
When is further Ix required?
Unstable hips with a positive Ortolani test or Barlow test require and ultrasound which should detect a dislocated hip, an unstable hip or a shallow acetabulum
X-rays cannot be used for the early diagnosis of DDH as the femoral head epiphysis is unossified until around 4‐6 months but X-rays are the investigation of choice after this age
Describe the Ortolani and Barlow test
Ortolani test - reducing a dislocated hip with abduction and anterior displacement
Barlow test - dislocataBle hip with flexion and posterior displacement
Treatment of DDH?
Early diagnosis improves prognosis
- Mild cases (slightly shallow acetabulum and mildly dislocatable but reduced hip) - observation with examination and US to ensure hip remains reduced
- Dislocated/persistently unstable hips - reduced and held with a Pavlik harness (keep hips in comfortable flexion and abduction, maintaining reduction )
- Persistent dislocation over 18 months old - open reduction is much more likely to be required and the acetabulum is likely to be very shallow by this stage
Why is maintaining reduction of the hip important?
Over-flexing and abducting the hip can cause avascular necrosis
What is transient synovitis of the hip?
Self-limiting inflammation of the synovium of the hip joint (commonly); it is the most common cause of childhood hip pain
Occurrence of transient synovitis of the hip?
Typically between 2 and 10 years
Boys are more commonly affected
Commonly occurs shortly after a URT infection (usu. viral)
Differential with transient synovitis of the hip?
Septic arthritis
Juvenile idiopathic arthritis
RA
Presentation of transient synovitis of the hip?
Limp or reluctance to weight bear on the affected side
Restricted range of motion but not as much pain/loss of motion as with septic arthritis
Low-grade fever but not systemically unwell/septic
Ix for transient synovitis of the hip?
Radiographs (exclude Perthes)
Normal/near normal CRP can exclude septic arthritis
If doubtful, aspiration of the hip
MRI to exclude osteomyelitis of the proximal femur
Treatment of transient synovitis of the hip?
Exclude more serious causes
Short course of NSAIDs should resolve the pain within a few weeks; if not, consider another diagnosis
What is Perthes disease?
Idiopathic osteochondritis of the femoral head, usually occurring at 4-9 years and is more common in boys (part. very active boys of short stature)
Pathogenesis of Perthes disease?
Femoral head transiently loses its blood supply, resulting in necrosis with subsequent abnormal growth
Femoral head may collapse or fracture
Subsequent remodelling occurs but the shape of femoral head and congruence of joint is determined by age (older children do worse) and amount of collapse; in an incongruent joint, early-onset arthritis occurs
Presentation of Perthes disease?
Pain and limp (mostly unilateral but can be bilateral)
Loss of internal rotation is the FIRST CLINICAL SIGN, followed by loss of abduction and then a +ve Trendellenburg test (due to gluteal weakness)
Treatment of Perthes disease?
No specific treatment; half of patients do well
Regular X-ray observation and avoidance of physical activity
Consequences of Perthes disease that does not do well?
Femoral head becomes aspherical, flattened and widened; lever arm of the abductor muscles is altered, causing weakness (Trendellenburg +ve)
Sometimes, the femoral head can sublux and this requires an osteotomy of the femur or acetabulum
What is SUFE?
Physis (growth plate) is not strong enough to support body weight and the femoral epiphysis slips inferiorly in relation to the femoral neck
Occurrence of SUFE?
Mainly affects overweight, pre-pubertal adolescent boys
Girls are less commonly affected
Hypothyroidism or renal disease may predispose to the disease
Presentation of SUFE?
Can be acute, chronic or acute-on-chronic
Pain (may be felt in the GROIN OR KNEE) and a limp
LOSS OF INTERNAL ROTATION OF THE HIP (predominant clinical sign)
Major pitfall of SUFE diagnosis?
Patient can present purely with pain in the KNEE, as the obturator nerve supplies the hip and the knee
MUST EXAMINE THE HIP WITH KNEE PAIN
Treatment of SUFE?
Urgent surgery to pin the femoral head to prevent further slippage
Some cases may require hip replacement in adolescence or early adulthood
For severe acute slips, gentle manipulation may be attempted but this risks avascular necrosis
Chronic severe slips may require an osteotomy
5 types of paediatric and adolescent knee problems?
- Knee extensor mechanism problems
- Adolescent knee pain
- Patellar instability
- Osteochondritis dissecans (OCD)
- Meniscal problems
What is knee extensor mechanism pain?
Fairly common occurrence during adolescence as body weight and sport increases
E.g: patellar tendonitis (Jumper’s knee) can occur (self-limiting and requires rest and physio)
Describe anterior knee pain
AKA patellofemoral dysfunction - common in adolescence, esp. GIRLS
May be due to muscle imbalance, ligamentous laxity and subtle skeletal predispositions, e.g: genu valgum, wide hips, femoral neck anteversion; there may also be softening of the hyaline cartilage of the patella
Treatment of anterior knee pain?
Self-limiting and physiotherapy is used to rebalance muscles (most patients “grow out” of the condition)
Resistant cases may require surgery to shift forces on the patella
Describe patellar instability
Dislocation/sublixation of the patella is common in adolescence and can be due to trauma with a tear in the medial patellofemoral ligament
Predisposition to ligamenous laxity and variation in bony anatomy; also, dislocations can cause osteochondral fracture
Treatment of patellar instability?
Many patients stabilise with age
Physio may help
Recurrent dislocation may require surgery to correct any bony predispositions or to reconstruct the medial patellofemoral ligament
Describe OCD
Osteochondritis where a fragment of hyaline cartilage, with a variable no. of bony fragments, break off the surface of the joint
Occurrence of OCD?
Usually occurs in adolescence but can occur later in adulthood
Presentation of OCD?
Poorly localised pain, effusion and occasional locking
Ix for OCD?
Difficult to detect on X-rays
MRI
Describe meniscal tears
Can occur in children and adolescenets but younger patients do better with meniscal repair
High proportion of peripheral or bucket handle meniscal tears which may benefit from meniscal repair
3 types of paediatric foot and ankle problems?
- Talips Equinovarus (clubfoot)
- Tarsal coalition
- Hallux valgus
What is Talipes Equinovarus?
Congenital deformity of the foot due to an in utero abnormal alignment of the joints between the talus, calcaneus and navicular
Sometimes, it is bilateral
Describe the deformity in Talipes Equinovarus
Abnormal alignment of the joints results in contractures of the soft tissues, resulting in a deformity consisting of ankle equinus (plantarflexion), supination of the forefoot and varus alignment of the forefoot
These are not immediately correctable
Occurrence of Talipes Equinovarus?
BOYS are twice as commonly affected than girls
+ve family history may present
More common in breech presentation and it may be part of another skeletal dysplasia
Low amniotic fluid content is a risk factor
Treatment of Talipes Equinovarus?
Splintage (Ponseti technique) is commenced as soon as possible after birth; deformity is held in plaster casts with 5/6 weekly cast changes
Most children require a tenotomy of the Achilles tendon for full correction
Once achieved, child wears a brace of boots attached to a bar
What is tarsal coalition?
Abnormal bridge (bony, fibrous or cartilaginous) between the calcaneus and navicular or between the talus and calcaneus
It can lead to a painful fixed flat foot deformity in older children
Treatment of tarsal coalition?
Symptoms may improve with splintage/orthotics whilst resistant pain may require surgery to remove the abnormal connection
What is hallux valgus?
AKA bunion - medial deviation of the first metatarsal bone and lateral deviation of the hallux
Can occur in late adolescence and usually has a +ve FH
Treatment of hallux valgus?
Surgical correction in adolescents carries a risk of recurrence
What is a spinal red flag symptoms?
Back pain in a child or adolescent ; there is a low threshold for referral/Ix
Infections and tumours can occur in children and spondyloisthesis requires prompt surgical treatment
What is scoliosis?
Lateral curvature of the spine (and also rotational deformity) which can be idiopathic (most common) or secondary to NM disease, tumour (e.g: osteoid osteoma), skeletal dysplasia or infection
Occurrence of scoliosis?
Idiopathic scoliosis is more common in females and presents in adolescence
Younger children with scoliosis tend to have an underlying cause
Ix of scoliosis?
Any painful scoliosis requires urgent Ix, for tumour or infection
Treatment of scoliosis?
Mild, non‐progressive scoliosis (majority) does not require surgery
Larger curves may require surgery for cosmesis or to improve wheelchair posture (NM disease)
Severe curves can result in a restrictive lung defect and surgery may be required
Describe surgery for scoliosis
Requires vertebral fusions and long rods connecting the posterior elements of the spine
Risk of surgery for scoliosis?
Correction of larger curves carries a risk of spinal cord injury
What is spondyloisthesis?
Slippage of one vertebra over another, usually occurring at L4/L5 or L5/S1 level
Occurs due to a developmental defect OR a recurrent stress fracture of the posterior elements which fail to heal
Occurrence of spondyloisthesis?
Usually presents in adolescents (increased body activity and sporting activity are implicated)
Presentation of spondyloisthesis?
Lower back pain
With severe slippage, may have a radiculopathy
May have a paradoxical “flat back” due to muscle spasm
Can present acutely with a characteristic waddling gait
Treatment of spondyloisthesis?
Minor degrees of slippage can be observed and treated with bed rest and physio
Severe slips may require stabilisation and, potentially, reduction
