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
- Knock knees - legs curve inwards
- Rachitic rosary - the ends of the ribs expand at the costochondral junctions causing lumps along the chest
- Craniotabes - soft skull with delayed closure of the sutures and frontal bossing
- 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 (30% have a low grade fever (exlude septic arthritis))
Otherwise well - no signs of systemic illness.
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