Answer: Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a disorder of bone fragility chiefly caused by mutations in the COL1A1 and COL1A2 genes that encode type I procollagen.

Type II – Perinatal lethal
Some providers who treat large numbers of patients with osteogenesis imperfecta suggest that the diagnosis of Type II OI be made in retrospect for patients who do not survive the perinatal period, and that even patients with very severe forms of OI who nonetheless are long term survivors be classified as Type III. Blue sclera may be present. Patients may have a small nose, micrognathia, or both. All patients have in utero fractures, which may involve the skull, long bones, and/or vertebrae. The ribs are beaded, and the long bones are severely deformed.
Causes of death include extreme fragility of the ribs, pulmonary hypoplasia, and malformations or haemorrhages of the CNS.

Type III – Severe, progressively deforming

Patients may have joint hyperlaxity, muscle weakness, chronic unremitting bone pain, and skull deformities (e.g., posterior flattening) due to bone fragility during infancy.

Deformities of upper limbs may compromise function and mobility. The presence of dentinogenesis imperfecta is independent of the severity of the osteogenesis imperfecta. The sclera have variable hues. In utero fractures are common. Limb shortening and progressive deformities can occur. Patients have a triangular face with frontal and temporal bossing. Malocclusion is common. Basilar invagination is an uncommon but potentially fatal occurrence in osteogenesis imperfecta.
Vertigo is common in patients with severe osteogenesis imperfecta. Hypercalciuria may be present in about 36% of patients with osteogenesis imperfecta, and adults may be at higher risk of renal calculi. Respiratory complications secondary to kyphoscoliosis are common in individuals with severe osteogenesis imperfecta.
Constipation and hernias are also common in people with osteogenesis imperfecta.

Obtain a radiographic skeletal survey after birth.

In mild (type I) osteogenesis imperfecta, images may reveal thinning of the long bones with thin cortices. Several wormian bones may be present. No deformity of long bones is observed.

In extremely severe (type II) osteogenesis imperfecta, the survey may reveal beaded ribs, broad bones, and numerous fractures with deformities of the long bones. Platyspondylia may also be revealed.

In moderate and severe (types III and IV) osteogenesis imperfecta, imaging may reveal cystic metaphysis, or a popcorn appearance of the growth cartilage. Normal or broad bones are revealed early, with thin bones revealed later. Fractures may cause deformities of the long bones. Old rib fractures may be present. Vertebral fractures are common.

Transient synovitis (TS) is the most common cause of acute hip pain in children aged 3-10 years. The disease causes arthralgia and arthritis secondary to a transient inflammation of the synovium of the hip. Biopsy reveals only nonspecific inflammation and hypertrophy of the synovial membrane. Ultrasonography demonstrates an effusion that causes bulging of the anterior joint capsule. Synovial fluid has increased proteoglycans.
Unilateral hip or groin pain is the most common symptom reported; however, some patients with transient synovitis (TS) may report medial thigh or knee pain. Transient synovitis has the highest incidence rate among causes of nontraumatic hip pain in children. Guidelines for chronic hip pain have been established.

Causes
No definitive cause of transient synovitis is known, although the following have been suggested:
– Patients with transient synovitis often have histories of trauma, which may be a cause or predisposing factor.
– One study found an increase in viral antibody titres in 67 of 80 patients with transient synovitis.
– Postvaccine or drug-mediated reactions and an allergic disposition have been cited as possible causes.

The following studies may be indicated in transient synovitis (TS):
– CBC count: The white blood cell (WBC) count may be slightly elevated.
– Erythrocyte sedimentation rate (ESR) may be slightly elevated. One study found that the combination of an ESR greater than 20 mm/h and/or a temperature greater than 37.5°C identified 97% of individuals with septic hip.

The Monteggia fracture refers to a dislocation of the proximal radio-ulnar joint (PRUJ) in association with a forearm fracture, most commonly a fracture of the ulna. Depending on the type of fracture and severity, they may experience elbow swelling, deformity, crepitus, and paraesthesia or numbness. Some patients may not have severe pain at rest, but elbow flexion and forearm rotation are limited and painful.
The dislocated radial head may be palpable in the anterior, posterior, or anterolateral position. In Bado type I and IV lesions, the radial head can be palpated in the antecubital fossa. The radial head can be palpated posteriorly in type II lesions and laterally in type III lesions.

Colles’ fractures have the following 3 features:
– Transverse fracture of the radius
– 1 inch proximal to the radio-carpal joint
– Dorsal displacement and angulation

Smith’s fracture (reverse Colles’ fracture)
– Volar angulation of distal radius fragment (Garden spade deformity)
– Caused by falling backwards onto the palm of an outstretched hand or falling with wrists flexed

Bennett’s fracture
– Intra-articular fracture of the first carpometacarpal joint
– Impact on flexed metacarpal, caused by fist fights
– X-ray: triangular fragment at ulnar base of metacarpal

Galeazzi fracture
– Radial shaft fracture with associated dislocation of the distal radioulnar joint

Pott’s fracture
– Bimalleolar ankle fracture
– Forced foot eversion

Barton’s fracture
– Distal radius fracture (Colles’/Smith’s) with associated radiocarpal dislocation
– Fall onto extended and pronated wrist
– Involvement of the joint is a defining feature

The scaphoid bone is the most commonly fractured carpal bone. Fractures are most often localized in the middle third of the scaphoid bone.
Generally, scaphoid bone fractures result from indirect trauma when an individual falls onto the outstretched hand with a hyperextended and radially deviated wrist. Pain when applying pressure to the anatomical snuffbox is highly suggestive of a scaphoid bone fracture.
X-ray is the initial test of choice for diagnosis. Computer tomography and magnetic resonance imaging may be indicated, if x-ray findings are negative but clinical suspicion is high.
Treatment can be conservative (e.g., wrist immobilization) or in certain cases surgical (e.g., proximal pole fracture). Complications include non-union and avascular necrosis.

Answer: Ganglion

A ganglion cyst is a fluid-filled swelling that usually develops near a joint or tendon. The cyst can range from the size of a pea to the size of a golf ball. Ganglion cysts look and feel like a smooth lump under the skin.

They’re made up of a thick, jelly-like fluid called synovial fluid, which surrounds joints and tendons to lubricate and cushion them during movement.

Ganglions can occur alongside any joint in the body, but are most common on the wrists (particularly the back of the wrist), hands and fingers.

Ganglions are harmless, but can sometimes be painful. If they do not cause any pain or discomfort, they can be left alone and may disappear without treatment, although this can take a number of years.

It’s not clear why ganglions form. They seem to happen when the synovial fluid that surrounds a joint or tendon leaks out and collects in a sac.
They are most common in younger people between the ages of 15 and 40 years, and women are more likely to be affected than men. These cysts are also common among gymnasts, who repeatedly apply stress to the wrist.

Answer: Perthes disease

Perthes’ disease is a condition affecting the hip joint in children. It is rare (1 in 9,000 children are affected) and we do not clearly understand why it occurs.

Part or all of the femoral head (top of the thigh bone: the ball part of the ball-and-socket hip joint) loses its blood supply and may become misshapen. This may lead to arthritis of the hip in later years.

The earliest sign of Legg-Calvé-Perthes disease (LCPD) is an intermittent limp (abductor lurch), especially after exertion, with mild or intermittent pain in the anterior part of the thigh. LCPD is the most common cause of a limp in the 4- to 10-year-old age group, and the classic presentation has been described as a painless limp.
The patient may present with limited range of motion of the affected extremity. The most common symptom is persistent pain.

Hip pain may develop and is a result of necrosis of the involved bone. This pain may be referred to the medial aspect of the ipsilateral knee or to the lateral thigh. The quadriceps muscles and adjacent thigh soft tissues may atrophy, and the hip may develop adduction flexion contracture. The patient may have an antalgic gait with limited hip motion.
Early radiographic changes may reveal only a nonspecific effusion of the joint associated with slight widening of the joint space, metaphyseal demineralization (decreased bone density around the joint), and periarticular swelling (bulging capsule). This is the acute phase, and it may last 1-2 weeks. Decreasing bone density in and around the joint is noted after a few weeks. Eventually, the disease may progress to collapse of the femoral head, increase in the width of the neck, and demineralization of the femoral head. The final shape of this area depends on the extent of necrosis and the degree of collapse.

Complications of intravenous drug abuse, such as subcutaneous abscess, joint infections, osteomyelitis, overdose, hepatitis, and infective endocarditis, account for an increasing number of admissions in accident and emergency departments throughout the UK. The organisms that usually cause chronic osteomyelitis in intravenous drug users are Gram‐negative rods such as Pseudomonas aeruginosa and Gram‐positive cocci such as staphylococci. Early treatment is essential to prevent progressive bone destruction. TB tends to affect the thoracic spine and in other causes of osteomyelitis the lumbar spine is affected.

Fractures of the distal radius account for up to 20% of all fractures treated in the emergency department. Initial assessment includes a history of the mechanism of injury, associated injury and appropriate radiological evaluation
Most of the fractures are caused by a fall on the outstretched hand with the wrist in dorsiflexion. The form and severity of fracture of distal radius as well as the concomitant injury of disco-ligamentary structures of the wrist also depend on the position of the wrist at the moment of hitting the ground. The width of this angle influences the localization of the fracture. Pronation, supination and abduction determine the direction of the force and the compression of the carpus and different appearances of ligament injuries.
The basic principle of fracture treatment is to obtain accurate fracture reduction and then to use a method of immobilization that will maintain and hold that reduction. While the goal of treatment in fracture distal end of the radius is the restoration of normal function, the precise methods to achieve that desired outcome are controversial. Intra-articular fractures of the distal end of the radius can be difficult to treat, at times, with a traditional conservative method. A number of options for treatment are available to prevent the loss of reduction in an unstable fracture of the distal end of the radius.
One of the recent advances in the treatment of distal radius fractures is the more frequent application of open reduction and internal fixation, especially for intra-articular fractures. There are two groups of fractures for which open reduction and internal fixation is advisable.
The first group includes the two-part shear fracture (Barton fracture), which actually is a radio-carpal fracture-dislocation. Although the anatomical reduction is possible by closed means in some cases, these fractures are very unstable and difficult to control in plaster. The second group includes complex intra-articular fractures in which the articular fragments are displaced, rotated or impacted and are not amenable to reduction through limited operative exposure.

The patient has Denis B fracture, unstable fracture requiring open reduction and internal fixation (ORIF)
open reduction internal fixation indications:
– any talar displacement
– displaced isolated medial malleolar fracture
– displaced isolated lateral malleolar fracture
– bimalleolar fracture and bimalleolar-equivalent fracture
– posterior malleolar fracture with > 25% or > 2mm step-off
– Bosworth fracture-dislocations
– open fractures
– malleolar non-union

Danis-Weber classification:
type A
below the level of the talar dome
usually transverse
tibiofibular syndesmosis intact
deltoid ligament intact
medial malleolus occasionally fractured
usually stable if medial malleolus intact
type B
the distal extent at the level of the talar dome; may extend some distance proximally
usually spiral
tibiofibular syndesmosis usually intact, but a widening of the distal tibiofibular joint (especially on stressed views) indicates syndesmotic injury
medial malleolus may be fractured
the deltoid ligament may be torn, indicated by a widening of the space between the medial malleolus and talar dome
variable stability, dependent on the status of medial structures (malleolus/deltoid ligament) and syndesmosis; may require ORIF
Weber B fractures could be further subclassified as 9
B1: isolated
B2: associated with a medial lesion (malleolus or ligament)
B3: associated with a medial lesion and fracture of the posterolateral tibia
type C
above the level of the ankle joint
tibiofibular syndesmosis disruption with a widening of the distal tibiofibular articulation
medial malleolus fracture or deltoid ligament injury often present
a fracture may arise as proximally as the level of the fibular neck and not visualized on ankle films, requiring knee or full-length tibia-fibula radiographs (Maisonneuve fracture)
unstable: usually requires ORIF
Weber C fractures can be further subclassified as 6
C1: diaphyseal fracture of the fibula, simple
C2: diaphyseal fracture of the fibula, complex
C3: proximal fracture of the fibula
a fracture above the syndesmosis results from external rotation or abduction forces that also disrupt the joint
usually associated with an injury to the medial side

The Gustilo open fracture classification system is the most commonly used classification system for open fractures.
This system uses the amount of energy, the extent of soft-tissue injury and the extent of contamination for determination of fracture severity. Progression from grade 1 to 3C implies a higher degree of energy involved in the injury, higher soft tissue and bone damage and higher potential for complications.
Grade Injury
1 Low energy wound <1cm
2 Greater than 1cm wound with moderate soft tissue damage
3 High energy wound > 1cm with extensive soft tissue damage
3 A (sub group of 3) Adequate soft tissue coverage
3 B (sub group of 3) Inadequate soft tissue coverage
3 C (sub group of 3) Associated arterial injury

It is important to recognize that a Gustilo score of grade 3C implies vascular injury as well as bone and connective-tissue damage. Grade 3C is defined as an open fracture associated with an arterial injury requiring repair, irrespective of degree of soft-tissue injury. The lack of peripheral pulses indicate arterial injury.
A less morbid damage control approach (compared with ligation) for patients with extremity vascular injury is vascular shunting, a technique that has been available for over 50 years. A vascular shunt is a synthetic tube that is inserted into the vessel and secured proximally and distally. Shunts were placed in the context of damage control to allow stabilization of Gustilo 3C fractures or limb replantation. Vascular shunts are typically used for larger, more proximal arteries and veins such as the femoral and popliteal arteries. Shunts can remain in place up to six hours, but definitive vascular reconstruction should be performed as soon as the patient is sufficiently stable to undergo the procedure. Once a fracture is identified, it is reduced as much as possible and splinted. If an open fracture is suspected, the patient should be taken to the operating room to debride and stabilize the fracture (usually with external fixation) either after life-threatening injuries have been managed or concurrently while less emergency chest, abdominal, or head injuries are being addressed. Revascularization — Ischemia due to vascular injury is a major risk factor for amputation, and, ideally, the injury will be identified and treated within six hours to minimize ischemic nerve and muscle damage.