The correct diagnosis for the patient’s condition is Paget’s disease of the bone, which commonly affects the skull, spine/pelvis, and long bones of the lower extremities. This is evidenced by the patient’s distal 2/3 femur fracture with osteolytic lesions and elevated ALP levels. Myeloma, osteomalacia, and osteoporosis are incorrect diagnoses as they do not match the patient’s symptoms and blood test results.

Understanding Paget’s Disease of the Bone

Paget’s disease of the bone is a condition characterized by increased and uncontrolled bone turnover. It is believed to be caused by excessive osteoclastic resorption followed by increased osteoblastic activity. Although it is a common condition, affecting 5% of the UK population, only 1 in 20 patients experience symptoms. The most commonly affected areas are the skull, spine/pelvis, and long bones of the lower extremities. Predisposing factors include increasing age, male sex, northern latitude, and family history.

Symptoms of Paget’s disease include bone pain, particularly in the pelvis, lumbar spine, and femur. The stereotypical presentation is an older male with bone pain and an isolated raised alkaline phosphatase (ALP). Classical, untreated features include bowing of the tibia and bossing of the skull. Diagnosis is made through blood tests, which show raised ALP, and x-rays, which reveal osteolysis in early disease and mixed lytic/sclerotic lesions later.

Treatment is indicated for patients experiencing bone pain, skull or long bone deformity, fracture, or periarticular Paget’s. Bisphosphonates, either oral risedronate or IV zoledronate, are the preferred treatment. Calcitonin is less commonly used now. Complications of Paget’s disease include deafness, bone sarcoma (1% if affected for > 10 years), fractures, skull thickening, and high-output cardiac failure.

Overall, understanding Paget’s disease of the bone is important for early diagnosis and management of symptoms and complications.

Paediatric Fractures and Pathological Conditions

Paediatric fractures can be classified into different types based on the injury pattern. Complete fractures occur when both sides of the cortex are breached, while greenstick fractures only have a unilateral cortical breach. Buckle or torus fractures result in incomplete cortical disruption, leading to a periosteal haematoma. Growth plate fractures are also common in paediatric practice and are classified according to the Salter-Harris system. Injuries of Types III, IV, and V usually require surgery and may be associated with disruption to growth.

Non-accidental injury is a concern in paediatric fractures, especially when there is a delay in presentation, lack of concordance between proposed and actual mechanism of injury, multiple injuries, injuries at sites not commonly exposed to trauma, or when children are on the at-risk register. Pathological fractures may also occur due to genetic conditions such as osteogenesis imperfecta, which is characterized by defective osteoid formation and failure of collagen maturation in all connective tissues. Osteopetrosis is another pathological condition where bones become harder and more dense, and radiology reveals a lack of differentiation between the cortex and the medulla, described as marble bone.

Overall, paediatric fractures and pathological conditions require careful evaluation and management to ensure optimal outcomes for the child.

The most probable diagnosis for a child with a soft, painless swelling behind the knee is a Baker’s cyst. An anterior cruciate ligament tear usually occurs after a twisting injury, is painful, and does not typically present with a lump in the popliteal fossa. A popliteal artery aneurysm would be pulsatile and uncommon in children. A rhabdomyosarcoma is unlikely to be painless and may have other symptoms of systemic disease.

Understanding Baker’s Cysts

Baker’s cysts, also known as popliteal cysts, are not true cysts but rather a distension of the gastrocnemius-semimembranosus bursa. These cysts can be primary or secondary. Primary cysts are not associated with any underlying pathology and are typically seen in children. On the other hand, secondary cysts are associated with an underlying condition such as osteoarthritis and are typically seen in adults.

Baker’s cysts present as swellings in the popliteal fossa, which is located behind the knee. In some cases, the cyst may rupture, resulting in symptoms similar to those of a deep vein thrombosis, such as pain, redness, and swelling in the calf. However, most ruptures are asymptomatic.

In children, Baker’s cysts typically resolve on their own and do not require any treatment. However, in adults, it is important to treat the underlying cause where appropriate. Understanding the nature of Baker’s cysts and their associated symptoms can help individuals seek appropriate medical attention when necessary.

The underlying cause of Marfan syndrome is a genetic mutation in the fibrillin-1 protein, which plays a crucial role as a substrate for elastin.

Understanding Marfan’s Syndrome

Marfan’s syndrome is a genetic disorder that affects the connective tissue in the body. It is caused by a defect in the FBN1 gene on chromosome 15, which codes for the protein fibrillin-1. This disorder is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the defective gene from one parent to develop the condition. Marfan’s syndrome affects approximately 1 in 3,000 people.

The features of Marfan’s syndrome include a tall stature with an arm span to height ratio greater than 1.05, a high-arched palate, arachnodactyly (long, slender fingers), pectus excavatum (sunken chest), pes planus (flat feet), and scoliosis (curvature of the spine). In addition, individuals with Marfan syndrome may experience cardiovascular problems such as dilation of the aortic sinuses, mitral valve prolapse, and aortic aneurysm. They may also have lung issues such as repeated pneumothoraces. Eye problems are also common, including upwards lens dislocation, blue sclera, and myopia. Finally, dural ectasia, or ballooning of the dural sac at the lumbosacral level, may also occur.

In the past, the life expectancy of individuals with Marfan syndrome was around 40-50 years. However, with regular echocardiography monitoring and the use of beta-blockers and ACE inhibitors, this has improved significantly in recent years. Despite these improvements, aortic dissection and other cardiovascular problems remain the leading cause of death in individuals with Marfan syndrome.

The most specific test for limited cutaneous systemic sclerosis among patients with systemic sclerosis is the anti-centromere antibodies.

Understanding Systemic Sclerosis

Systemic sclerosis is a condition that affects the skin and other connective tissues, but its cause is unknown. It is more common in females, with three patterns of the disease. Limited cutaneous systemic sclerosis is characterised by Raynaud’s as the first sign, affecting the face and distal limbs, and associated with anti-centromere antibodies. CREST syndrome is a subtype of limited systemic sclerosis that includes Calcinosis, Raynaud’s phenomenon, oEsophageal dysmotility, Sclerodactyly, and Telangiectasia. Diffuse cutaneous systemic sclerosis affects the trunk and proximal limbs, associated with scl-70 antibodies, and has a poor prognosis. Respiratory involvement is the most common cause of death, with interstitial lung disease and pulmonary arterial hypertension being the primary complications. Renal disease and hypertension are also possible complications, and patients with renal disease should be started on an ACE inhibitor. Scleroderma without internal organ involvement is characterised by tightening and fibrosis of the skin, manifesting as plaques or linear. Antibodies such as ANA, RF, anti-scl-70, and anti-centromere are associated with different types of systemic sclerosis.

The optimal surgical approach for intertrochanteric (extracapsular) proximal femoral fracture is the use of dynamic hip screws. These screws are considered dynamic due to their ability to tighten as the bone heals. Hemiarthroplasty is not the preferred option for this type of fracture, as it is typically reserved for displaced intracapsular fractures in patients with significant comorbidities or immobility. Internal fixation is also not the preferred approach, as it is typically used for undisplaced intracapsular fractures in mobile patients without serious comorbidities. Intramedullary nails are not the preferred approach for intertrochanteric fractures, as they are typically used for subtrochanteric fractures.

Hip fractures are a common occurrence, particularly in elderly women with osteoporosis. The femoral head’s blood supply runs up the neck, making avascular necrosis a potential risk in displaced fractures. Symptoms of a hip fracture include pain and a shortened and externally rotated leg. Patients with non-displaced or incomplete neck of femur fractures may still be able to bear weight. Hip fractures can be classified as intracapsular or extracapsular, with the Garden system being a commonly used classification system. Blood supply disruption is most common in Types III and IV fractures.

Intracapsular hip fractures can be treated with internal fixation or hemiarthroplasty if the patient is unfit. Displaced fractures are recommended for replacement arthroplasty, such as total hip replacement or hemiarthroplasty, according to NICE guidelines. Total hip replacement is preferred over hemiarthroplasty if the patient was able to walk independently outdoors with the use of a stick, is not cognitively impaired, and is medically fit for anesthesia and the procedure. Extracapsular hip fractures can be managed with a dynamic hip screw for stable intertrochanteric fractures or an intramedullary device for reverse oblique, transverse, or subtrochanteric fractures.

The main neurovascular structure that is at risk in a scaphoid fracture is the dorsal carpal branch of the radial artery. This artery is responsible for supplying blood to the scaphoid bone. It is important to note that the ulnar artery is not involved in the blood supply to the scaphoid bone. The most serious complication of a scaphoid fracture is avascular necrosis. It is not possible for a scaphoid fracture to cause damage to the median or ulnar nerves as they are not anatomically related to the scaphoid bone. Although the radial nerve is located near the scaphoid bone, it is less likely to be affected than the blood vessels. This is because the radial nerve runs superficially to the tendons of the snuffbox.

Understanding Scaphoid Fractures

A scaphoid fracture is a type of wrist fracture that typically occurs when a person falls onto an outstretched hand or during contact sports. It is important to recognize this type of fracture due to the unusual blood supply of the scaphoid bone. Interruption of the blood supply can lead to avascular necrosis, which is a serious complication. Patients with scaphoid fractures typically present with pain along the radial aspect of the wrist and loss of grip or pinch strength. Clinical examination is highly sensitive and specific when certain signs are present, such as tenderness over the anatomical snuffbox and pain on telescoping of the thumb.

Plain film radiographs should be requested, including scaphoid views, but the sensitivity in the first week of injury is only 80%. A CT scan may be requested in the context of ongoing clinical suspicion or planning operative management, while MRI is considered the definite investigation to confirm or exclude a diagnosis. Initial management involves immobilization with a splint or backslab and referral to orthopaedics. Orthopaedic management depends on the patient and type of fracture, with undisplaced fractures of the scaphoid waist typically treated with a cast for 6-8 weeks. Displaced scaphoid waist fractures require surgical fixation, as do proximal scaphoid pole fractures. Complications of scaphoid fractures include non-union, which can lead to pain and early osteoarthritis, and avascular necrosis.

Pregnant patients with rheumatoid arthritis (RA) can safely continue using hydroxychloroquine as a treatment without any changes. While the medication does cross the placenta, it has not been shown to cause harm to the fetus at the doses used for RA treatment. Etanercept may be considered if there is a significant flare of disease during pregnancy, but it is not necessary at this time. Leflunomide is strictly contraindicated due to its high teratogenicity. Methotrexate must be discontinued at least 3 months before pregnancy as it is highly teratogenic and abortifacient. Steroids are not necessary for this patient who is not experiencing a flare.

Hydroxychloroquine: Uses and Adverse Effects

Hydroxychloroquine is a medication commonly used in the treatment of rheumatoid arthritis and systemic/discoid lupus erythematosus. It is similar to chloroquine, which is used to treat certain types of malaria. However, hydroxychloroquine has been found to cause bull’s eye retinopathy, which can result in severe and permanent visual loss. Recent data suggests that this adverse effect is more common than previously thought, and the most recent guidelines recommend baseline ophthalmological examination and annual screening, including colour retinal photography and spectral domain optical coherence tomography scanning of the macula. Despite this risk, hydroxychloroquine may still be used in pregnant women if needed. Patients taking this medication should be asked about visual symptoms and have their visual acuity monitored annually using a standard reading chart.

When patients present with back pain, thoracic pain should be considered a warning sign. In this particular case, the patient’s back pain has several red-flag features, including its location in the middle of the back, sudden onset and progression, night pain, and recent prostate exam results. These symptoms are highly indicative of metastatic prostate cancer with spinal cord compression, which is a medical emergency. Immediate hospital assessment is necessary, along with a whole-body MRI and treatment such as high dose dexamethasone, radiotherapy, and surgery if needed. Any response that fails to recognize the urgency of this situation is incorrect.

Lower back pain is a common issue that is often caused by muscular strain. However, it is important to be aware of potential underlying causes that may require specific treatment. Certain red flags should be considered, such as age under 20 or over 50, a history of cancer, night pain, trauma, or systemic illness. There are also specific causes of lower back pain that should be kept in mind. Facet joint pain may be acute or chronic, worse in the morning and on standing, and typically worsens with back extension. Spinal stenosis may cause leg pain, numbness, and weakness that is worse on walking and relieved by sitting or leaning forward. Ankylosing spondylitis is more common in young men and causes stiffness that is worse in the morning and improves with activity. Peripheral arterial disease may cause pain on walking and weak foot pulses. It is important to consider these potential causes and seek appropriate diagnosis and treatment.

Cauda equina syndrome typically manifests as lower back pain, sciatica, and decreased sensation in the perianal area. As the condition progresses, urinary incontinence may develop, which is a concerning late sign associated with irreversible damage. While a positive sciatic stretch test indicates nerve irritation or compression, it does not necessarily indicate spinal cord compression. Reduced perianal sensation is also a red flag, but it typically appears earlier than urinary incontinence. Although tingling in one leg may be caused by sciatic nerve irritation, it is not a specific sign of cauda equina syndrome, particularly if it is unilateral. While assessing anal tone is important, studies have shown that it has low sensitivity and specificity for detecting cauda equina syndrome.

Cauda equina syndrome (CES) is a rare but serious condition that occurs when the nerve roots in the lower back are compressed. It is crucial to consider CES in patients who present with new or worsening lower back pain, as a late diagnosis can result in permanent nerve damage and long-term leg weakness and urinary/bowel incontinence. The most common cause of CES is a central disc prolapse, typically at L4/5 or L5/S1, but it can also be caused by tumors, infections, trauma, or hematomas. CES can present in various ways, and there is no single symptom or sign that can diagnose or exclude it. Possible features include low back pain, bilateral sciatica, reduced sensation in the perianal area, decreased anal tone, and urinary dysfunction. Urgent MRI is necessary for diagnosis, and surgical decompression is the recommended management.