Paediatrics - Musculoskeletal Flashcards
A young child presents with recurrent fractures. On examination notice a hypermobile joints and blue/grey discolouration to the sclera. What is the most likely diagnosis?
Pathophysiology?
Ix?
Rx?
Note - a young child with unusual and recurrent fractures should normally make you consider safeguarding, however “you notice a blue discolouration to the sclera”
OMG This is the disabilties with the little people in chairs with triangualr heads. - Sx - Short stature, hypermobility, recurretn fractures and blue eyes.
Osteogenesis imperfecta is a genetic condition that results in brittle bones that are prone to fractures. It is also knowns as brittle bone syndrome. It is caused by a range of genetic mutations that affect the formation of collagen. Collagen is a protein that is essential is maintaining the structure and function of bone, as well as skin, tendons and other connective tissues. There are 8 types of osteogenesis imperfecta depending on the underlying genetic mutation, and they vary in their severity.
Ix - clinical diagnosis but X-rays can be helpful for diagnosing fractures and genetic testing is possible but not routine.
Rx:
The underlying genetic condition cannot be cured. Medical treatments include:
- Bisphosphates to increase bone density
- Vitamin D supplementation to prevent deficiency
Ongoing management is done by the multidisciplinary team, e.g. Physiotherapy to maximase stregnth and function and Orthopaedic surgeons to manage fractures
What is rickets?
What causes rickets? Including background pathophysiology
Sx?
Rickets is a condition affecting children where there is defective bone mineralisation causing “soft” and deformed bones. In adults the same process leads to a condition called osteomalacia. Osteo– means bone and –malacia means soft.
Rickets is caused by a deficiency in vitamin D or calcium. Vitamin D is either produced by the body in response to sunlight or obtained through foods such as eggs, oily fish or fortified cereals or nutritional supplements. Calcium is found in dairy products and some green vegetables. Rarely it can be caused by a genetic mutation that also causes low blood phosphate levels.
Pathophysiology: Kidneys are essenital in metabolism vitmain D into its active form (Deficiency in CKD). Vitamin D is essential for:
- calcium and phosphate absorbtion from the gut
- reabsotion in the kidneys.
Inadequate vitmain D leads to low calcium and phosphate levels in the blood, which leads to defective bone mineralisation. Low calcium also causes a secondary hyperparathyroidism (parathyroid hormone released to raise the serum calcium). PTH stimulates reabsorbtion of calcium from the bones.
Sx:
Can be asymptomatic!
- lethargy
- bone pain
- bone deformities - below
- poor growth
- dental problems
- pathological fractures
Bone deformities that can occur in rickets include:
Bowing of the legs, where the legs curve outwards
Knock knees, where the legs curve inwards
Rachitic rosary, where the ends of the ribs expand at the costochondral junctions, causing lumps along the chest
Craniotabes, which is a soft skull, with delayed closure of the sutures and frontal bossing
Delayed teeth with under-development of the enamel
Rickets 2:
Ix - 2 main ones? Additional?
Management?
Investigations
Serum 25-hydroxyvitamin D is the laboratory investigation for vitamin D. A result of less than 25 nmol/L establishes a diagnosis vitamin D deficiency, which can lead to rickets.
Xray is required to diagnose rickets. X-rays may also show osteopenia (more radiolucent bones).
Other investigation results include:
Serum calcium may be low
Serum phosphate may be low
Serum alkaline phosphatase may be high
Parathyroid hormone may be high
NICE clinical knowledge summaries suggest additional investigations to look for other pathology:
Full blood count and ferritin, for iron deficiency anaemia
Inflammatory markers such as ESR and CRP, for inflammatory conditions
Kidney function tests, for kidney disease
Liver function tests, for liver pathology
Thyroid function tests, for hypothyroidism
Malabsorption screen such as anti-TTG antibodies, for coeliac disease
Autoimmune and rheumatoid tests, for inflammatory autoimmune conditions
^^^would test these just be aware
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Management
Vitamin D and calcium supplementation is used to treat rickets.
Prevention - Breastfeeding women and all children should take a vitamin D supplement - 400 IU (10 micrograms)
Vitamin D deficiency without rickets:
Children with vitamin D deficiency can be treated with high dose (6000IU) vitamin D (ergocalciferol) for 8 – 12 weeks and then go onto the above maintenace dose.
What is transient synovitis?
common trigger?
How does it differ from septic athritis in its clinical presentation?
Sx?
Management?
OMG its the same as reactive athritis of the Hip joint.
Transient synovitis is the most common cause of hip pain in children. It is caused by temporary (transient) irritation and inflammation in the synovial membrane of the joint (synovitis).It is often associated with a recent viral upper respiratory tract infection.
Children with transient synovitis typically do not have a fever. Children with joint pain and a fever need urgent management for septic arthritis.
Sx:
- Limp and refussal to weight bear
- groin or hip pain
- low grade temeperature
They should not have signs of systemic illness and should feel otherwise well.
Management is simple analgesia but with follow up at 48 hours and 1 week to check for fever (septic arthritis). Usually resolves within 1-2 weeks.
Septic Athritis
- presentation
- causative organisms?
- Ix?
- Management?
Septic arthritis refers to infection inside a joint. This can occur at any age, but is most common in children under 4 years. Infection in a joint is an emergency, as the infection can quickly begin to destroy the joint and cause serious systemic illness. Septic arthritis has a mortality around 10%. Therefore, early recognition and management is essential.
Septic arthritis is a common and important complication of joint replacement. It occurs in around 1% of straight forward hip or knee replacements. This percentage is higher in revision surgery.
Presentation - usually affects one joint only:
Hot, red, swollen and painful joint
Refusing to weight bear
Stiffness and reduced range of motion
Systemic symptoms such as fever, lethargy and sepsis
Staphylococcus aureus is the most common causative organism.
Other bacteria:
Neisseria gonorrhoea (gonococcus) in sexually active teenagers
Group A streptococcus (Streptococcus pyogenes)
Haemophilus influenza
Escherichia coli (E. coli)
Ix - Joint aspiration for gram staining, crystall microscopy, culture, antibiotic sensitivities
Mx - Empiric antibiotics until microbial sensitivies are nown. IV antibiotics for 3 to 6 weeks. Patients may require surgical drainage and washout.
Osteomyelitis:
- what is it? where does it occour
- causative organism
- route of infection
- presentation
- investigations
- management
Osteomyelitis is an infection in the bone and bone marrow. This typically occurs in the metaphysis of the long bones.
The most common bacteria is staphylococcus aureus.
Chronic osteomyelitis is a deep seated, slow growing infection with slowly developing symptoms. Acute osteomyelitis presents more quickly with an acutely unwell child.
The infection may be introduced directly into the bone, for example during an open fracture. Alternatively it may have travelled to the bone through the blood, after entering the body through another route, such as the skin or gums.
Risk factors are therefore open fracture, orthopeadic surgery, immunocompromise, sickle cells anaemia, HIV, TB
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Osteomyelitis can present acutely with an unwell child, or more chronically with subtle features. Signs and symptoms are:
Refusing to use the limb or weight bear
Pain
Swelling
Tenderness
They may be afebrile, or may have a low grade fever. Children with acute osteomyelitis may have a high fever, particularly if it has spread to the joint causing septic arthritis.
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Xrays are often the initial investigation, but can be normal in osteomyelitis. MRI is the best imaging investigation for establishing a diagnosis.
Blood tests will show raised inflammatory markers (CRP and ESR) and white blood cells in response to the infection.
Blood culture is important in establishing the causative organism. A bone marrow aspiration or bone biopsy with histology and culture may be necessary.
Management
- extensive and prolongued antibiotic therapy.
- they may require surgical drainage and debridement of infected bone
What is Perthes disease?
Pathophysiological process? Does it heal?
How does it present?
Key differential?
Perthes disease involves disruption of blood flow to the femoral head, causing avascular necrosis of the bone. This affects the epiphysis of the femur (the ball), which is the bone distal to the growth plate (physis). It affects 4-12 years olds and is more common in boys.
It is described as idiopathic, meaning there is no clear cause or trigger for the avascular necrosis. One theory suggests that repeated mechanical stress to the epiphysis may interrupt the blood supply.
Over time there is revascularisation or neovascularisation and healing of the femoral head. There is remodelling of the bone as it heals. The main complication is a soft and deformed femoral head, leading to early hip osteoarthritis. This leads to an artificial total hip replacement in around 5% of patients.
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Perthes disease present with a slow onset of:
Pain in the hip or groin
Limp
Restricted hip movements
There may be referred pain to the knee
There will be no history of trauma. If the pain is triggered by minor trauma, think about slipped upper femoral epiphysis (fracture), particularly in older children.
Perthes Disease 2
Ix?
Management? 3 key things
Ix:
First line - X-ray (can be normal)
Others that can assist the diagnosis:
Bloods - normal (normal inflammatory markers to exclude other pathology)
Technetium bone scan
MRI scan
Management:
- initial management is conservative- aimed at maintaining a health alignment in the joint and reducing the risk of damage to the femoral head. This is achieved with:
- bed rest
- traction
- crutches
- analgesia
3 key things:
1.Physiotherapy is used to retain the range of movement in the muscles and joints without putting excess stress on the bone.
2.Regular xrays are used to assess healing.
3.Surgery may be used in severe cases, older children or those that are not healing. The aim is to improve the alignment and function of the femoral head and hip
A 12 year old, obese boy presents with hip and groin pain that began after a minor trauma. He has recently undergone a growth spurt.
On examination there is restricted ROM and a painful limp, dispriportinate to the severity of the trauma.
Diagnosis?
Investigations?
Management?
Slipped upper femoral epiphysis (SUFE)
It is where the head of the femur is displaced (“slips”) along the growth plate
It ususally presents aged 8-15 years.
The typical exam presentation is an adolescent, obese male undergoing a growth spurt. There may be a history of minor trauma that triggers the onset of symptoms. Suspect SUFE if the pain is disproportionate to the severity of the trauma.
Risk factors are in Bold - recent growth spurt, obese, minor trauma with disproportionate symptoms.
Presenting symptoms can be vague. These can be:
Hip, groin, thigh or knee pain
Restricted range of movement in the hip- particularly restricted internal rotation
Painful limp
Patients will prefer to keep the hip in external rotation.
Ix:
**Initial - X-ray **
Other investigations that can be helpful in establishing the diagnosis are:
Blood tests are normal, particularly inflammatory markers used to exclude other causes of joint pain
Technetium bone scan
CT scan
MRI scan
Essentially it is identical investigations to perthes disease
Management - Surgery is required to return the femoral head to the correct position and fix it in place to prevent it slipping further.
Me - I think more likely to show on X-ray than say, perthes disease, makes sense mroe anatomical. Management is also more definitive with surgery required always vs self healing.
What is Osgood-Schlatters Disease?
How does it present?
Management?
https://www.youtube.com/watch?v=AZt21fpR6qQ - ZTF video
Osgood-Schlatter disease is caused by inflammation at the tibial tuberosity where the patella ligament inserts. It is a common cause of anterior knee pain in adolescents.
It typically occurs in patients aged 10 – 15 years, and is more common in males. Osgood-Schlatter disease is usually unilateral, but it can be bilateral.
Pathophysiology
The patella tendon inserts into the tibial tuberosity. The tibial tuberosity is at the epiphyseal plate. Stress from running, jumping and other movements at the same time as growth in the epiphyseal plate result in inflammation on the tibial epiphyseal plate. There are multiple small avulsion fractures, where the patella ligament pulls away tiny pieces of the bone. This leads to growth of the tibial tuberosity, causing a visible lump below the knee. Initially this bump is tender due to the inflammation, but has the bone heals and the inflammation settles it becomes hard and non-tender.
Presentation
Osgood-Schlatter disease presents with a gradual onset of symptoms:
- Visible or palpable hard and tender lump at the tibial tuberosity
Pain in the anterior aspect of the knee exacerbated by:
- physical activity
- kneeling
- extension of the knee
Management:
- Ice
- Rest
- NSAIDs (ibuporfen)
- physiotherapy once symptoms settle to stregthen the joint
Symptoms will fully resolve over time. The patient is usually left with a hard boney lump on their knee.
A rare complication is a full avulsion fracture, where the tibial tuberosity is separated from the rest of the tibia. This usually requires surgical intervention.
What causes developmental dysplasia of the hips?
How is DDH diagnosed? (What special tests?) What does isolated clicking indicate vs clicking with Sx?
Ix? 1
Management?2
Developmental dysplasia of the hip (DDH) is a condition where there is a structural abnormality in the hips caused by abnormal development of the fetal bones during pregnancy. This leads to instability in the hips and a tendency or potential for subluxation or dislocation. These structural abnormalities have the potential to persist into adulthood leading to weakness, recurrent subluxation or dislocation, an abnormal gait and early degenerative changes.
Risk increases with family history and breech presentation after 36 weeks or at birth.
DDH is screened for in the NIPE and at the 6-8 week check.
Findings that may suggest DDH are:
Different leg lengths
Restricted hip abduction on one side
Significant bilateral restriction in abduction
Difference in the knee level when the hips are flexed
Clunking of the hips on special tests
There are two special tests used to check for DDH:
Ortolani test - anteroir dislocation
Barlow test - posteroir dislocation
Mnemonic - Ortolani is moving the hips out, Barlow is moving the hips back
Ortolani test is done with the baby on their back with the hips and knees flexed. Palms are placed on the baby’s knees with thumbs on the inner thigh and four fingers on the outer thigh. Gentle pressure is used to abduct the hips and apply pressure behind the legs with the fingers to see if the hips will dislocate anteriorly.
Barlow test is done with the baby on their back with the hips adducted and flexed at 90 degrees and knees bent at 90 degrees. Gentle downward pressure is placed on knees through femur to see if the femoral head will dislocate posteriorly.
Clicking is a common examination finding and is usually due to soft tissue moving over bone. When this is the cause an ultrasound will be normal. Isolated clicking without any other features does not usually require an ultrasound unless there are other concerns. Clunking is more likely to indicate DDH and requires an ultrasound.
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Ix: ultrasound of the hips for suspected DDH to establish the diagnosis
Rx:
Treatment typically involves a Pavlik harness if the baby presents at less than 6 months of age. The Pavlik harness is fitted and kept on permanently, adjusting for the growth of the baby. The aim is to hold the femoral head in the correct position to allow the hip socket (acetabulum) to develop a normal shape. This harness keeps the baby’s hips flexed and abducted. The child is regularly reviewed and the harness is removed when their hips are more stable, usually after 6 – 8 weeks.
Surgery is required when the harness fails or the diagnosis is made after 6 months of age. After surgery is performed, an hip spica cast is used to immobilises the hip for a prolonged period.
What is juveline Idiopathic athritis?
3 key features?
Name the 5 key subtypes (there’s another card about differentiating them)?
Management of JIA? 4 steps to the ladder
Juvenile idiopathic arthritis (JIA) refers to a condition affecting children and adolescents where autoimmune inflammation occurs in the joints. It is diagnosed where there is arthritis without any other cause, lasting more than 6 weeks in a patient under the age of 16.
The key features of inflammatory arthritis are joint pain, swelling and stiffness.
There are a number of subtypes of juvenile idiopathic arthritis. Each has individual characteristics and is associated with different serology (blood tests). It is worth remembering five key subtypes:
Systemic JIA
Polyarticular JIA
Oligoarticular JIA
Enthesitis related arthritis
Juvenile psoriatic arthritis
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Management
Medical treatment depends on the severity and response, and involves:
- NSAIDs, such as ibuprofen
- Steroids, either oral, intramuscular or intra-artricular in oligoarthritis
- Disease modifying anti-rheumatic drugs (DMARDs), such as methotrexate, sulfasalazine and leflunomide
- Biologic therapy, such as the tumour necrosis factor inhibitors etanercept, infliximab and adalimumab
Differentiating the 5 Subtypes of juvenile idiopathic athritis:
4 key features of each?
Serology?
Key complication of systemic JIA?
WOULDN’T SAY ITS SUPER HIGH YIELD BUT I THINK ITS DEFINATLY WORTH BEING AWARE OF SOME OF THESE THINGS
SYSTEMIC JIA
- also known as Still’s disease
- Subtle salmon-pink rash
- High swinging fevers
- Weight loss
- Joint pain
Serology:
- ANA and RD typically negative
- raised inflammatory markers - CRP, ESR, platelets and serum ferritin
Key complication - macrophage activation syndrome (MAS), where there is severe activation of the immune system with a massive inflammatory response. It presents with an acutely unwell child with disseminated intravascular coagulation (DIC), anaemia, thrombocytopenia, bleeding and a non-blanching rash. It is life threatening. A key investigation finding is a low ESR.
TOM TIP: Think of Still’s disease (systemic JIA) when a patient presents with a salmon-pink rash, fevers and joint pain.
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POLYCARTICULAR JIA
- idiopathic arthritis of 5+ joints.
- usually symetrical (small joints of the hands and feet, large - hips, knees)
- minimal systemic symptoms, may have mild fever, anaemia, reduced growth
- Equivalent of Rheumatoid arhtritis in adults but with differing serology
Serology: Rheumatoid factor - Seronegative or Seropositive (adolescents)
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OLIGOARTICULAR JIA
- 4 joints or less, usually just a monoarthritis of a large joint such as the knee or ankle
- Classic feature is anterioir uveitis - requires opthalmology for management
- typically affects girls under the age fo 6
Serology:
ANA - often positive
RF - often negative
Inflammatory markers - often normal or mildly elevated
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Enthesitis-related Athritis
- paediatric version of seronegative spondylarthropathy (akylosing spondylitis, psoriatic athritis, reactive, enteric/IBD related)- patients are often HLA B27 positive.
- characterised by idiopahtic inflammatory athritis with enthesitis (where a muscle inserts into a bone - showns on MRI)
- Can also have uveitis, IBD and psoriasis
- usually in boys over 6 (opposite of oligoathritis)
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Juvenile Psoriatic Athritis
- Inflammatory arthritis associated with Psoriasis
- symetrical small joints of the hands or asymetrical hips or knees
Examination findings:
- plaque psoriasis
- nail pitting
- onycholysis
- dactylitis of full finger
- enthesitis
What are the key non-infective differentials for children with fever lasting more than 3 days - 4
In children that have fevers for more than 5 days, the key non-infective differentials to remember are:
- Kawasaki disease
- Still’s disease (systemic JIA)
- rheumatic fever
- leukaemia
Pathophysiology or rheumatic fever?
How does it present?
Key complication?
Management?
NOT ON THE LIST
Rheumatic fever is a type II Hypersensitivity reaction (IgG mediated) following tonsillitis with group A beta-haemolytic streptococcus (streptococcus pyogenes). The immune system creates antibodies to fight the infection. These antibodies not only target the bacteria, but also match antigens on the cells of the person’s body, for example the muscle cells in the myocardium in the heart.
It is rare in the UK due to early treatment of streptococcus with antibiotics.
The typical presentation of rheumatic fever occurs 2 – 4 weeks following a streptococcal infection:
- Fever
- Joint pain - migratory and affecting larger joints
- Rash
- Shortness of breath - Pericarditis, endocarditis and myocarditis
- Chorea
- Nodules
Ix - not testing!
- ECG and Echo
- throat swab for culture
- ASO antibodies titres
Key complication is mitral stenosis and chronic heart failure
Diagnosis is complex and not worth learning ATM - JONES FEAR criteria
Management is NSAIDs
Aspirin and Steroids for carditis
Management of complicaitons
Just learn presentation, key complication
