Paediatrics Flashcards
What is osteogenesis imperfecta?
- brittle bone disease
- defect of maturation of type 1 collagen
How is oesteogenesis imperfecta inherited?
-what are other clinical features?
The majority of cases are 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 associated with spinal deformity.
What doe the bones look like in osteogenesis imperfecta? how is this managed?
Bones tend to be thin (gracile) with thin cortices and osteopenic. Mild cases may have relatively normal xrays with history of low energy fractures.
Fractures tend to heal with abundant but poor quality callus and are treated with splintage, traction or surgical stabilization.
What are skeletal dysplasias?
short stature (dwarfism)
- genetic error
- proportionate or disproportionate
What is the most common skeletal dysplasia?
achondroplasia
- 80% sporadic
- may be autosomal dominant
Achondroplasia results in disproportionately short limbs with a prominent forehead and widened nose. Joints are lax and mental development is normal.
What connective tissue disorders exist in orthopaedics?
- generalised (familial) joint laxity
- marfan’s
- ehlers danlos syndrome
- down syndrome
What is generalised (familial) joint laxity?
-what are they more prone to?
Around 5% of normal people have hypermobility of the joints which usually runs in families and is inherited in a dominant manner. Patients may describe themselves as “double‐jointed” and be able to perform tricks as a party piece (eg voluntary dislocation of the shoulder).
-batons/brightons score
People with generalized ligamentous laxity are more prone to soft tissue injuries (ankle sprains) and recurrent dislocations of joints (especially shoulder and patella) which may be painful.
What is marfan’s syndrome?
Marfan’s syndrome is an autosomal dominant or sporadic mutation of the fibrillin gene resulting in tall stature with disproportionately long limbs and ligamentous laxity.
What are the assoc symptoms of marfans syndrome?
Associated features include a high arched palate, scoiliosis, flattening of the chest (pectus excavatum), eye problems (lens dislocation, retinal detachment), aortic aneurysm and cardiac valve incompetence. Cardiac abnormalities may result in premature death.
Do patients with marfans disease require surgery?
Patient’s rarely require orthoapedic surgery (scoliosis and bony procedures for joint instability eg fusions) and soft tissue stabilization of dislocating joints usually has disappointing results as the biological abnormality cannot be corrected.
What is ehlers-danlos syndrome?
This is a heterogeneous condition which is often autosomal dominantly inherited with abnormal elastin and collagen formation.
What are the clinical features of ehlers-danlos syndrome? Why would orthopaedic surgery be used?
linical features include profound joint hypermobility, vascular fragility with ease of bruising, joint instability and scoliosis.
Bony surgery may be required for dislocating joints however bleeding can be a problem and skin healing can be poor with stretched scars or wound dehiscence common.
what are the MSK manifestations of down syndrome?
Musculoskeletal manifestations of Trisomy 21 include short stature and joint laxity with possible recurrent dislocation (especially patella) which may require stabilization.
What are muscular dystrophies?
These are rare and usually X‐linked recessive hereditary disorders (therefore only affecting boys) resulting in progressive muscle weakness and wasting.
What is duchenne muscular dystrophy?
A defect in the dystrophin gene involved in calcium transport results in muscle weakness which may only be noticed when the boy starts to walk with difficulty standing (Gower’s sign) and going up stairs.
What is the natural progression of duchenne muscular dystrophy?
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.
What is the diagnosis of duchenne muscular dystrophy?
Diagnosis is confirmed by raised serum creatinine phosphokinase and abnormalities on muscle biopsy. Physiotherapy, splintage and deformity correction may prolong mobility. Severe scoliosis may be corrected by spinal surgery.
What is cerebral palsy?
Cerebral Palsy (CP) is a neuromuscular disorder with onset before 2‐3 years of age due to an insult to the immature brain before, during or after birth.
What are the causes of cerebral palsy?
Causes include genetic problems, brain malformation, intrauterine infection in early pregnancy, prematurity, intra‐cranial haemorrhage, hypoxia during birth and meningitis. Only 1 in 10 cases are due to problems during labour (contrary to popular belief) whilst often there is no identifiable cause or explanation.
What is the severity of cerebral palsy?
The expression of the disease and its severity are variable depending on the area of the brain affected ranging from mild symptoms and signs limited to one limb or total body involvement with profound learning difficulties.
Developmental milestones may be missed and the ability to ambulate or perform normal tasks may be impaired.
What is the commonest expression of cerebral palsy?
spastic CP occurring in 80% of cases with injury to the motor cortex, upper motor neurons or corticospinal tract resulting in weakness and spasticity which may worsen as the child grows.
What, other than spastic CP, types of CP exist?
-how many limbs can CP affect?
- Ataxic (which affects the cerebellum) which reduces co‐ordination and balance
- Athetoid (affecting the extrapyramidal motor system, the pyramidal tract and basal ganglia) which results in an uncontrolled writhing motion, sudden changes in tone and difficulties controlling speech.
CP can affect one limb (monoplegic), one ipsilateral upper and lower limb (hemiplegic – the most common), both legs only (diplegic) and all 4 limbs usually with learning difficulties (total body involvement).
Developmental milestones may be delayed in young children.
What MSK problems can CP cause?
Musculoskeletal problems which can develop include joint contractures, scoliosis and hip dislocation (non‐congenital).
What is the non-surgical treatment of CP?
Non‐surgical treatment for CP includes:
-physiotherapy and splintage (orthotics) to prevent contractures
- baclofen (which can be given by injection intrathecally in the subarachnoid space to allow a lower dose and fewer side effects) to reduce spasticity
- Botox injection into spastic muscles.
What is the surgical treatment of CP?
Surgical treatments include hip excision or replacement to treat painful hip dislocation and subsequent problems with wheelchair sitting, surgical release of joint contractures, correction of severe scoliosis, joint fusions and tendon transfers.
What is spina bifida?
Spina bifida is a congenital disorder where the two halves of the posterior vertebral arch fail to fuse, probably in the first six weeks of gestation.
What is the mildest form of spina bifida? what does this cause?
spina bifida occulta, there may be no associated problems but some can develop tethering of the spinal cord and roots which can cause a high arched foot (pes cavus) and clawing of the toes. Neurological symptoms however can occur at any age. Some have a tell‐ tale dimple or tuft of hair in the skin overlying the defect.
What is the most severe form of spina bifida?
spina bifida cystica
-the contents of the vertebral canal herniate through the defect with either herniation of the meninges alone (a meningocele) or with the spinal cord or cauda equina.
-A meningocele is not usually associated with neurological sequelae but a myelomeningocle usually has a neurological deficit (motor and sensory) below the lesion and most will never function independently.
Spina bifida cystica may be associated with hydrocephalus (excess CSF around the brain raising intracranial pressure) and the degree of disability depends on the spinal level affected.
How is spina bifida cystica managed?
With spina bifida cystica the defect is usually closed with 48 hours of birth (to prevent drying or infection).
Hydrocephalus may be treated with a shunt from the ventricles of the brain to either the right atrium, pleural cavity or peritoneal cavity at a few weeks of age. Spinal deformity and hip dislocation are also common and contractures can occur.
Orthopaedic surgical management includes scoliosis correction, reduction and containment procedures for the hip, contracture released and correction of foot deformities. Avoidance of pressure sores and good foot care is important to prevent ulcers and sores which can get infected
What is polio?
Polio (or poliomyelitis) is a viral infection which affects motor anterior horn cells in the spinal cord or brainstem resulting in a lower motor neurone deficit.
Vaccination has eradicated new cases of polio in modern healthcare systems however older patients with long term effects of childhood polio are occasionally encountered.
What are the clinical features of polio?
The virus enters via the GI tract with a flu‐like illness and a variable degree of paralysis usually affecting a group of muscles of one limb within 2‐3 days. Some affected motor neurons recover with recovery of weakness however residual paralysis can occur. Joint deformities and growth defects can occur with shortening of the limb. Sensation is preserved.
What is the treatment of polio?
Treatment of residual paralysis can be treated with splintage (caliper, orthotics) and shortening of a leg can be helped with a shoe raise. Tendon transfers may improve function whilst some deformities especially of the foot or ankle can be treated with fusion (arthrodesis) to provide a better platform for ambulation. Flail joints may also be treated with arthrodesis in a position of maximal function and shortening can be treated with lengthening of the short side or shortening of the long side.
