Musculoskeletal Flashcards
Osteogenesis Imperfecta
An autosomal dominant genetic condition that results in brittle bones that are susceptible to fractures. - A genetic mutation that affects the formation of collagen which is needed to maintain the structure and function of bone, skin, tendons and other connective tissues.
Presentation of Osteogenesis Imperfecta
Recurrent and inappropriate fractures - Blue/grey sclera
- Hypermobility
- Triangular face
- Deafness from early adulthood
- Dental problems
- Bone deformities
Ix for Osteogenesis Imperfecta
Mainly a clinical diagnosis - X-rays can be helpful for diagnosing fractures and deformities - Genetic testing is done rarely
Management of Osteogenesis Imperfecta
Bisphosphonates to increase bone density - Vit D supplementation - Physio and occupational therapy input to maximise strength and function - Management of fractures
Rickets
A condition where there is defective bone mineralization causing ‘soft’ and deformed bones
Causes of Rickets
Vitamin D deficiency - produced by the body in response to sunlight or through food such as eggs, oily fish - Calcium deficiency - found in dairy products and some green vegetables - Hereditary hypophosphatemic rickets - an X-linked dominant condition
Pathophysiology of Rickets
Vit D is a hormone created from cholesterol by the skin in response to UV radiation. - Those with malabsorption disorders such as IBD are more likely to have Vit D deficiency as well as those with CKD. - Vitamin D is essential in calcium and phosphate absorption from the intestines and kidneys as well as regulating bone turnover and promoting bone reabsorption. - Inadequate vit D leads to a lack of calcium and phosphate which are needed for bone formation therefore there is defective bone mineralisation. - Low calcium causes secondary hyperparathyroidism as the parathyroid gland tries to raise calcium levels by secreting PTH which stimulates increased reabsorption of calcium and causes further bone mineralisation problems.
Risk Factors of Rickets
Darker skin - Low exposure to sunlight - Colder climates -Spending majority of time indoors
Presentation of Rickets
Lethargy - Bone pain - Poor growth - Dental problems - Muscle weakness
Bone Deformities of Rickets
- Bowing of the legs - legs curve outwards 2. Knock knees - legs curve inwards 3. Rachitic rosary - the ends of the ribs expand at the costochondral junctions causing lumps along the chest 4. Craniotabes - soft skull with delayed closure of the sutures and frontal bossing 5. Delayed teeth
Ix for Rickets
- Serum 25-hydroxyvitamin D - <25 nmol/L establishes deficiency - X-rays - Serum calcium and phosphate may be low - Serum ALP and PTH may be high - Full blood tests to rule out other pathology including FBC, ESR, CRP, LFTs, TFTs, Malabsorption screen
Management of Rickets
Prevention is the best management - NICE recommend 400 IU supplements for children and young people - Children with deficiency can be treated with ergocalciferol (vit D) - For those with diagnosed rickets, vit D and calcium supplementation is needed.
Transient Synovitis
Irritable hip ;Temporary irritation and inflammation in the synovial membrane - often associated with a viral URTI
What is the most common cause of hip pain in children aged 3-10?
Transient Synovitis
Who is typically affected by Transient Synovitis
Ages 4-8 (uncommon in <3s (think Septic Arthritis))
Presentation of Transient Synovitis
Symptoms usually occur within a few weeks of a viral illness - Limp - Refusal to weight bear - Groin or hip pain - Mild low grade temperature - Otherwise well - no signs of systemic illness. 30% have a low grade fever (exlude septic arthritis)
Management of Transient Synovitis
Symptomatic management - Exclusion of other diagnoses particularly septic arthritis
Prognosis of Transient Synovitis
Generally good prognosis with recovery within 1-2 weeks without any long term effects
Septic Arthritis
Infection inside a joint
Septic Arthritis is most common in children under __ years
4
Who does Septic Arthritis affect?
Any age but common in <4 y/o
Causes of Septic Arthritis
- Staphylococcus aureus - Neisseria gonorrhoea in sexually active teenagers - Group A Strep - Strep Pyogenes - Haemophilus influenzae - E coli
Presentation of Septic Arthritis
- Only affects a single joint - knee or hip - Hot, red, swollen and painful joint - Refusal to weight bear - Stiffness and reduce range of motion - Fever, lethargy and sepsis
Management of Septic Arthritis
- Admission to hospital with involvement of the orthopaedic team - Joint aspiration prior to antibiotics -> gram staining, crystal microscopy, culture and antibiotic sensitivities - Empirical IV antibiotics followed by specific antibiotics once sensitivities are received - Surgical drainage and washout may be needed
Osteomyelitis
Infection of the bone and bone marrow - typically in the metaphysis of the long bones. Infection can be introduced directly into the bone e.g open fracture or travelled to the
bone from the blood after entering through another medium
What is the most common cause of Osteomyelitis ?
Staph aureus
What is chronic Osteomyelitis ?
Chronic osteomyelitis is a deep seated, slow growing infection with slowly developing symptoms
Risk Factors of Osteomyelitis
- Males under 10 - Open bone fractures - Orthopaedic surgery - Immunocompromised
- Sickle cell anaemia
- HIV
- TB
Presentation of Osteomyelitis
- Systemic symptoms such as fever - Refusing to use the limb or weight bear - Pain - Swelling - Tenderness
First Line Ix for Osteomyelitis
X -rays
Gold Standard Ix for Osteomyelitis
MRI
Other Ix for Osteomyelitis
Bloods including CRP, ESR and white cells - Blood cultures - Bone marrow aspiration
Management of Osteomyelitis
Extensive and prolonged antibiotic therapy - Surgery may be needed for drainage and debridement of the infected bone
Perthes Disease
Disruption of blood flow to the femoral head causing avascular necrosis of the bone - affecting the epiphysis of the femur. Over time, there is revascularization or neovascularization and healing of the femoral head with remodelling of the bone as it heals
Perthes Disease affects those between ages __ and __
4 to 12
Perthes Disease most commonly affects ___
5-8 year old boys (M:F = 5:1)
Causes for Perthes Disease
Mainly idiopathic
Presentation of Perthes Disease
- Slow onset of pain in the hip or groin - Limp - Restricted hip movements - Referred pain to the knee - No history of trauma
Ix for Perthes Disease
- X-ray which can be normal - Blood tests can typically normal, particularly inflammatory markers - Technetium bone scan - MRI scan
Initial Management of Perthes Disease
- Initial management is conservative to maintain healthy position and alignment in the joint and reduce the risk of damage or deformity to the femoral head including bed rest, traction, analgesia and crutches
Other Management options for Perthes Disease
- Physiotherapy is used to retain movement in the muscles and joints - Regular x-rays - Surgery may be used in severe cases, older children or those that are not healing
What is a discoid meniscus?
A discoid meniscus is a congenital abnormality of the knee joint where the meniscus is thicker and more disc-like than the typical crescent shape, leading to potential knee pain and mechanical symptoms.
Which of the following is a type of discoid meniscus?
A) Incomplete
B) Complete
C) Wrisberg-ligament variant
D) All of the above
D) All of the above
Explanation: The three types of discoid meniscus are:
Incomplete: The meniscus is slightly thicker and wider than normal, usually asymptomatic.
Complete: The meniscus covers the tibial plateau completely.
Wrisberg-ligament variant: The meniscus is not attached to the femur or tibia due to missing ligaments, leading to instability.
What are common symptoms of a discoid meniscus?
Knee pain, especially on the lateral side
Swelling
Locking or catching sensations
Limited range of motion
Quadriceps weakness
Which imaging modality is commonly used to diagnose a discoid meniscus?
A) X-ray
B) MRI
C) Ultrasound
D) CT scan
B) MRI
Explanation: MRI is effective in diagnosing discoid meniscus and evaluating associated meniscal tears.