Pediatric disorders Flashcards
Osteogenesis Imperfecta
- “Brittle bone disease”
- Defect in maturation & organisation of type I collage.
- Autosomal dominant
Features of Osteogenesis Imperfecta
- Multiple fragility fractures in childhood, short stature, blue sclerae, loss of hearing
- Osteopenia, thin (gracile) bones.
- Fractures heal with poor quality callus
What symptoms are associated with skeletal dysplasia?
Learning difficulties; spine deformity; limb deformity; internal organ dysfunction; cranio facial abnormalities; skin abnormalities; tumour formation; joint hypermobility; atlanto-axial subluxation; spinal cord compression and intrauterine or premature death
Achondroplasia
Autosomal dominant condition with disproportionately short limbs with prominent forehead and widened nose. Lax joints and normal mental development. A form of short-limbed dwarfism
Marfan’s syndrome
An inherited disease that affects your body’s connective tissue, which gives strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels, and other vital parts of your body
Mutation of fibrillin gene
- Tall stature and ligamentous laxity, scoliosis, joint instability, pectus excavatun
Ehlers-Danlos Syndrome
- Autosomal dominant condition with abnormal elastin and collagen formation
- Joint hypermobility, vascular fragility, joint instability and scoliosis
- risk of bleeding (vascular fragility)
Down syndrome
- Trisomy 21
- Short stature, joint laxity, recurrent dislocation (patella)
- Atlanto-axial instability in the c-spine
Spina bifida
Congenital neural tube defect in which the two halves of the posterior vertebral arch fail to fuse - baby’s spine does not form normally. As a result, the spinal cord and the nerves that branch out of it may be damaged.
Two main types – spina bifida occulta & spinabifida cystica
Spina bifida occulta
- Mild form. May have no associated syymptoms
- Tethering of spinal cord and roots causing pes cavus (high arched foot) and clawing of toes. Neurological symptoms at any age
- Tuft of hair or dimple in skin overlying the defect
Spina bifida cystica
More severe form. Contents of vertebral canal herniate through the defect. Can be just meninges (meningocele) or spinal cord/cauda equina (myelomeningocele) itself
Meningocele not associated with neurological symptoms. Myelomenigocele associated with neurological deficit below the lesion.
Associated with hydrocephalus
Degree of disability depends on spinal level affected.
Polio/ poliomyelitis
Viral infection affecting motor anterior horn in spinal cord or brainstem resulting in lower motor neurone deficite
Syndactyly
Most common. Two digits are fused to failure of separation of skin and soft tissue of adjacent digits. Surgical separation indicated
Polydactyly
Extra digit. Amputation
Fibular hemimelia
Complete or partial absence of fibular. Leads to shortened limb, bowing of tibia and ankle deformity.
Management of Fibular hemimelia
Limb lengthening in mild cases. Amputation and below knee prosthetics in more severe cases
Most common limb deformity
Syndactyly
Erb’s palsy
- Injury to C5 & C6
- Loss of innervation to deltoid, supraspinatus, infraspinatus, biceps and brachialis muscle.
- Internal rotation of humerus
Klumpke’s palsy
- Injury to C8 & T1 caused by forceful adduction
- Paralysis of intrinsic muscles of hand, wrist flexors
- Fingers flexed
- Poor prognosis
Sits alone, crawls
6‐9 months
Child stands
8-12 months
Child walks
14‐17 months
Child jumps
24 months
Child manages stairs independently
Age 3
Loss of primitive reflexes (Moro reflex, stepping reflex, rooting, grasp reflex, fencing posture etc)
1‐6 months.
Child gains head control
2 months
Child speaks a few words
9‐12 months
Child stacks 4 blocks
18 months
Child potty trained
2‐3 years
Child understands 200 words, learns around 10 words/day
18‐20 months
What is Genu varum?
Bow legs - Growth disorder of the medial proximal tibial physis.
Other causes include: rickets, tumour, traumatic physeal injury, skeletal dysplasia.
What risk is associated with Genu varum?
Risk of early onset medial compartment osteoarthritis
Genu valgum
Also known as Knock-knees is associated with rickets, tumour, trauma and neurofibromatosis
In-toeing
When walking and standing, feet point toward the midline.
Causes of in-toeing
- Femoral neck anteversion
- Internal tibial torsion
- Forefoot adduction
Flat feet
Part of normal variation. Some people have it without any functional problem
Jack test
To distinguish between mobile or fixed flat feet.
Curly toes
- Minor overlapping of the toes and curling of toes.
- Fifth toe most frequently affected
- May cause discomfort in shoes.
Curly toes treatment
Persistent cases in adolescence may require surgical correction
Patellar tendonitis
Patellar tendinitis )i.e Jumper’s knee) is an injury to the tendon connecting your kneecap (patella) to your shinbone. (Inflammation of the patellar tendon)
Apophysitis
Inflammation of a growing tubercle where a tendon attaches.
Osgood-Schlatter’s disease
Tibial tubercle apophysis
A condition that causes pain and swelling below the knee joint, where the patellar tendon attaches to the top of the tibia, a spot called the tibial tuberosity.
Patellofemoral dysfunction
- Common in adolescenet GIRLS
- Due to muscle imbalance, ligamentous laxity, subtle skeletal predisposition (valgum, wide hips, femoral neck anteversion)
- Chondromalacia patellae may be present
Chondromalacia
Condition where the cartilage on the undersurface of the patella (kneecap) deteriorates and softens
Patellar instability
Dislocation & subluxation of patella. May be related to trauma and tear in medial patellofemoral ligament
Dislocation may cause osteochondral fracture. Small fragments may be recovered by arthroscopic surgery. Large fragments – fixation
Osteochondritis dissecans (OCD)
- Fragment of hyaline cartilage with some bone fragments breaks off the surface of the joint
- Poorly localised pain, effusion and locking
- Predisposes to OA.
Osteochondritis dissecans (OCD) management
Loose fragments require removal. Lesions at risk of breaking – fixation
Patellar instability management
Many patients stabilise as they grow older. Recurrent dislocation may require surgery
Talipes Equinovarus
Clubfoot
Congenital deformity due to in-utero abnormal alignment of the joints between the talus, calcaneus and navicular.
Treatment of Talipes Equinovarus
- Early splintage
- 80% of children require a tenotomy of the achilles tendon to maintain full correction
- Surgery indicated in resistant to splintage
Tarsal Coalition
Abnormal bridge between the calcaneus and navicular or between talus and calcaneus.
Can lead to painful fixed flat foot deformity in older children
Hallux valgus
Also called bunions - grow on side of foot
Spondylolisthesis
- Slippage of one vertebra over another – usually L4/5 or L5/S1,
- Due to developmental defect or recurrent stress fracture
Waddling gait
Spondylolisthesis (vertebrae slippage out of place)
Features of Spondylolisthesis
Low back pain and radiculopathy.
• Paradoxical flat back due to spasm
• Waddling gait
Avascular necrosis
Loss of blood supply to a bone - temporary or permanent
Trochanteric Bursitis/gluteal cuff syndrome
Inflammation of the bursa at the lateral point of the hip known as the greater trochanter
What are the 4 ligaments of the knee?
ACL
PCL
MCL
LCL
ACL
Prevent abnormal internal rotation of the tibia
PCL
Prevents knee hyperextension and anterior translation of femur
MCL
Resists valgus force
LCL
Resists varus force and abnormal external rotation of the tibia
Meniscal injury features
Twisting force on a loaded knee (Turning at football, squatting)
• Localized pain to medial or lateral joint line
• Effusion following day
• Catching or locking sensation
• 15 degree springy block to full extension. Difficulty straightening knee to full extension – meniscus full torn, flipping over and getting stuck in joint line)
• Knees may feel about to give way
• Positive steinman’s test
Steinman’s test
Test done to diagnose meniscal pathology at the knee joint.
What meniscal injury is most common?
Medial more common than lateral
Bucket handle meniscal tear
Large meniscal fragment flips out its normal position and displaces anteriorly or into intercondylar notch. Knee locking occurs due to mechanical extension
Degenerative meniscal tears
- Occurs as meniscus weakens with age.
- Tends to have complex patterns
- Often first stage of knee osteoarthritis.
- Steinman negative
Treatment of meniscal tears
Poor healing potential as limited blood supply. Healing potential also decreases with age and time from injury
- Meniscal repair – suturing meniscus to its bed. 25% fail and require arthroscopic menisectomy
- Arthroscopic menisectomy - removal of some or all of the meniscus
Why do meniscal tears require surgery?
Poor healing potential as limited blood supply. Healing potential also decreases with age and time from injury
ACL rupture cause
High rotational force. Internal rotation of tibia. Turning upper body laterally on a planted foot
Features of ACL rupture
- “pop” heard.
- Haemarthrosis within an hour of injury
- Deep pain in knee
- Rotary instability with knee giving way when turning on a planted foot
Treatment of ACL rupture
- Physiotherapy
- ACL reconstruction with tendon graft
- Indicated for sportspersons or those whose knees give way on sedentary activity. Extensive rehabilitation indicated
What tendons are used for ACL rupture repair?
Patellar, semitendinosis or gracilis
When is surgery indicated for ACL rupture repair?
Indicated for sportspersons or those whose knees give way on sedentary activity. Extensive rehabilitation indicated
PCL rupture
- Unlikely to occur in isolation.
- if your shinbone is hit hard just below the knee or if you fall on a bent knee. These injuries are most common during: Motor vehicle accidents
MCL tear
- Fairly common.
- Laxity & pain on valgus stress. Tenderness over origin or insertion of MCL
MCL prevents leg from extending too far inwards
LCL tear
Most often occur from a direct blow to the inside of the knee. This can stretch the ligaments on the outside of the near too far and may cause them to tear
MCL tear management
- Acute – high knee brace
2. Chronic – MCL tightening or reconstruction
LCL tear management
Treatment – Surgical with tendon graft
LCL helps to prevent excessive side (lateral) movement of the knee joint.
What nerve is commonly injured in LCL tears?
High incidence of common peroneal nerve injury from excessive stretch
Extensor Mechanism ruptures
Rupture involving tibial tuberosity, patellar (more common in younger), quadriceps (more common in older) tendon and quadriceps muscles.