Paediatric Orthopaedics Flashcards

1
Q

Growth Plates (Epiphyseal Plates)

A

Growth plates (epiphyseal plates) are found in the bones of children but not adults. They are the area at the ends of long bones that allow the bones to grow in length. They are made of hyaline cartilage and sit between the epiphysis and the metaphysis. Once the epiphysis and the metaphysis fuse during the teenage years, the growth plates become the epiphyseal lines.

The growth plate is generally stronger than the rest of the bone.

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2
Q

Bones in Children versus Adults

A

Children have growth plates, whereas adults do not. Children have more cancellous bone, which is the spongy, highly vascular bone in the centre of long bones. Adults have more cortical bone, which is the compact, hard bone around the outside. This makes children’s bones are more flexible but less strong. This makes children prone to “greenstick” fractures, where one side of the bone breaks whilst the other stays intact. Bones in children have very good blood supply and are able to heal much more quickly with less long term deformity compared with adults.

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3
Q

Fractures in Children versus Adults

A

The younger the child, the better and faster the healing of fractures. When bones fracture in children, they are more likely to break cleanly in two compared with adults.

Children are more likely to have greenstick fractures, where only one side of the bone breaks whilst the other side of the bone stays intact.

Children are more likely to have a buckle fracture (or torus fracture), due to less strength against compression.

Bone remodelling is the process where bone tissue is taken from areas of low tension and deposited in areas of high tension. This allows bone to change to the optimum shape for function. Bones in children have a high capacity for remodelling, which means that even if they are set at an incorrect angle, they will remodel over time to return to the correct shape.

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4
Q

Types of Fracture

A

Buckle (torus)
Transverse
Oblique
Spiral
Segmental
Salter-Harris (growth plate fracture)
Comminuted
Greenstick

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5
Q

Fractures at the growth plate

A

Fractures through the growth plate can cause issues with growth in that bone. Growth plate fractures are graded using the Salter-Harris classification. The higher the Salter-Harris grade, the more likely the fracture is to disturb growth.

Use the SALTR mnemonic to remember the types:

Type 1: Straight across
Type 2: Above
Type 3: BeLow
Type 4: Through
Type 5: CRush

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6
Q

Principles of managing fractures

A

Always keep safeguarding in mind when children present with fractures. Does the story make sense? Has this happened before? When there is doubt, discuss the case with a senior and consider a safeguarding referral.

The first principle is to achieve mechanical alignment of the fracture by:

Closed reduction via manipulation of the joint
Open reduction via surgery
The second principle is provide relative stability for a period of time, to allow healing. This can be done by fixing the bone in the correct position while it heals. There are various ways the bone can be fixed in position:

External casts
K wires
Intramedullary wires
Intramedullary nails
Screws
Plate and screws

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7
Q

Pain management in fractures

A

Pain management in children is slightly different than adults. The World Health Organisation have a pain ladder for children that has only two steps:

Step 1: Paracetamol or ibuprofen
Step 2: Morphine
If a child requires morphine they generally need admission for a serious illness.

TOM TIP: Examiners like to test your knowledge on the pain medications that are not used in children. Codeine and tramadol are not used in children as there is unpredictability in their metabolism, so the effects vary too greatly to make them safe and effective options. Aspirin is contraindicated in children under 16 due to the risk of Reye’s syndrome (except in certain circumstances such as Kawasaki disease).

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8
Q

Hip pain

A

Joint pain is a common paediatric presentation, particularly an acute limp.

Hip pain will present differently depending on the developmental age of the child. They may present with:

Limp
Refusal to use the affected leg
Refusal to weight bear
Inability to walk
Pain
Swollen or tender joint

TOM TIP: Examiners like to test your knowledge about the causes of hip pain in a child. It is worth being familiar with the differential diagnosis and distinguishing features of each cause.

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9
Q

Causes of Joint Pain

A

It is helpful to remember the differential diagnosis in the context of the age of the child. There is some overlap in ages.

0 – 4 years:

Septic arthritis
Developmental dysplasia of the hip (DDH)
Transient sinovitis

5 – 10 years:

Septic arthritis
Transient sinovitis
Perthes disease

10 – 16 years:

Septic arthritis
Slipped upper femoral epiphysis (SUFE)
Juvenile idiopathic arthritis

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10
Q

Red Flags for Hip Pain

A

Suspect serious pathology if there are red flags:

Child under 3 years
Fever
Waking at night with pain
Weight loss
Anorexia
Night sweats
Fatigue
Persistent pain
Stiffness in the morning
Swollen or red joint

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11
Q

Managing joint pain

A

Criteria for urgent referral for assessment in a limping child, adapted from NICE clinical knowledge summaries:

Child under 3 years
Child older than 9 with a restricted or painful hip
Not able to weight bear
Evidence of neurovascular compromise
Severe pain or agitation
Red flags for serious pathology
Suspicion of abuse

Management will focus on identifying the underlying cause. Investigations that can be useful include:

Blood tests including inflammatory markers (CRP and ESR) for JIA and septic arthritis
Xrays are used to diagnose fractures, SUFE and other boney pathology
Ultrasound can establish an effusion (fluid) in the joint
Joint aspiration is used to diagnose or exclude septic arthritis
MRI is used to diagnose osteomyelitis

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12
Q

Septic arthritis

A

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.

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13
Q

Presentation of septic arthritis

A

Septic arthritis usually only affects a single joint. This is often a knee or hip. It presents with a rapid onset of:

Hot, red, swollen and painful joint
Refusing to weight bear
Stiffness and reduced range of motion
Systemic symptoms such as fever, lethargy and sepsis
Septic arthritis can be subtle in young children, so always consider it as a differential when a child is presenting with joint problems.

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14
Q

Common bacterial causes of septic arthritis

A

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)

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15
Q

Differentials of septic arthritis

A

Transient sinovitis
Perthes disease
Slipped upper femoral epiphysis
Juvenile idiopathic arthritis

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16
Q

Managing septic arthritis

A

Have a low threshold for treating a patient for septic arthritis until it has been excluded with examination of the joint fluid. Be particularly cautious with immunosuppressed patients.

Patients with suspected septic arthritis require admission to hospital and involvement of the orthopaedic team.

The joint should be aspirated prior to giving antibiotics where possible. Send the sample for gram staining, crystal microscopy, culture and antibiotic sensitivities. The joint fluid may be purulent (full of pus). The gram stain will come back quite quickly and may give a clue about the organism. The full culture will take longer.

Empirical IV antibiotics should be given until the microbial sensitivities are known. Antibiotics are usually continued for 3 to 6 weeks in total when septic arthritis is confirmed. The choice of antibiotic depends on the local guidelines.

Patients may require surgical drainage and washout of the joint to clear the infection in severe cases.

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17
Q

Transient Synovitis

A

Transient synovitis is sometimes referred to as irritable hip. It is caused by temporary (transient) irritation and inflammation in the synovial membrane of the joint (synovitis). It is the most common cause of hip pain in children aged 3 – 10 years. 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.

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18
Q

Presentation of transient synovitis

A

Symptoms of transient synovitis often occur within a few weeks of a viral illness. They present with acute or more gradual onset of:

Limp
Refusal to weight bear
Groin or hip pain
Mild low grade temperature
Children with transient synovitis should be otherwise well. They should have normal paediatric observations and no signs of systemic illness. When other signs are present, consider alternative diagnoses.

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19
Q

Managing transient synovitis

A

General management of transient synovitis is symptomatic, with simple analgesia to help ease the discomfort. The challenge is to establish the correct diagnosis and exclude other significant pathology, particularly septic arthritis.

NICE clinical knowledge summaries provide guidance on managing transient synovitis: Children aged 3 – 9 years with symptoms suggestive of transient synovitis may be managed in primary care if the limp is present for less than 48 hours and they are otherwise well, however they need clear safety net advice to attend A&E immediately if the symptoms worsen or they develop a fever. They should also be followed up at 48 hours and 1 week to ensure symptoms are improving and then fully resolve.

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20
Q

Prognosis of transient synovitis

A

Typically there is a significant improvement in symptoms after 24 – 48 hours. Symptoms fully resolve within 1 – 2 weeks without any lasting problems. Transient synovitis may recur in around 20% of patients.

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21
Q

Perthes disease

A

Perthes disease involves disruption of blood flow to the femoral head, causing avascular necrosis of the bone. This affects the epiphysis of the femur, which is the bone distal to the growth plate (physis). The full name is Legg-Calvé-Perthes disease. It occurs in children aged 4 – 12 years, mostly between 5 – 8 years, 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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22
Q

Presentation of Perthes disease

A

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, particularly in older children.

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23
Q

Investigating Perthes disease

A

The initial investigation of choice in Perthes disease is an xray, however this can be normal.

Other investigations that can be helpful in establishing the diagnosis are:

Blood tests are typically normal, particularly inflammatory markers that are used to exclude other causes
Technetium bone scan
MRI scan

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24
Q

Managing Perthes disease

A

The severity of Perthes disease varies between patients.

Initial management in younger and less severe disease is conservative. The aim of management to maintain a healthy position and alignment in the joint and reduce the risk of damage or deformity to the femoral head. This is with:

Bed rest
Traction
Crutches
Analgesia
Physiotherapy is used to retain the range of movement in the muscles and joints without putting excess stress on the bone.

Regular xrays are used to assess healing.

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.

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25
Q

Slipped upper femoral epiphysis

A

Slipped upper femoral epiphysis (SUFE) is also known as slipped capital femoral epiphysis (SCFE). It is where the head of the femur is displaced (“slips”) along the growth plate.

It is more common in boys and typically presents aged 8 – 15 years, with the average age of 12 in boys. It presents slightly earlier in females, with an average age of 11 years. It is more common in obese children.

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26
Q

Presentation of SUFE

A

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.

Presenting symptoms can be vague. These can be:

Hip, groin, thigh or knee pain
Restricted range of hip movement
Painful limp
Restricted movement in the hip
When examining the patient, they will prefer to keep the hip in external rotation. They will have limited movement of the hip, particularly restricted internal rotation.

27
Q

Diagnosing SUFE

A

The initial investigation of choice in SUFE is xray.

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

28
Q

Managing SUFE

A

Surgery is required to return the femoral head to the correct position and fix it in place to prevent it slipping further.

29
Q

Osteomyelitis

A

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.

30
Q

Risk factors for osteomyelitis

A

Osteomyelitis is more common in boys and children under 10 years. There is often a risk factor that predisposes the child to developing osteomyelitis:

Open bone fracture
Orthopaedic surgery
Immunocompromised
Sickle cell anaemia
HIV
Tuberculosis

31
Q

Presentation of osteomyelitis

A

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.

32
Q

Investigating osteomyelitis

A

Xrays are often the initial investigation, but can be normal in osteomyelitis. MRI is the best imaging investigation for establishing a diagnosis. A bone scan is an alternative.

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.

33
Q

Managing osteomyelitis

A

Treatment requires extensive and prolonged antibiotic therapy. They may require surgery for drainage and debridement of the infected bone.

34
Q

Osteosarcoma

A

Osteosarcoma is a type of bone cancer. This usually presents in adolescents and younger adults aged 10 – 20 years. The most common bone to be affected is the femur. Other common sites are the tibia and humerus.

35
Q

Presentation of osteosarcoma

A

The main presenting feature is persistent bone pain, particularly worse at night time. This may disturb or wake them from sleep.

Other symptoms that may be present include bone swelling, a palpable mass and restricted joint movements.

36
Q

Diagnosing osteosarcoma

A

NICE guidelines recommend a very urgent direct access xray within 48 hours for children presenting with unexplained bone pain or swelling. If the xray suggests a possible sarcoma they need very urgent specialist assessment within 48 hours.

Xrays show a poorly defined lesion in the bone, with destruction of the normal bone and a “fluffy” appearance. There will be a periosteal reaction (irritation of the lining of the bone) that is classically described as a “sun-burst” appearance. There can be an associated soft tissue mass.

Blood tests may show a raised alkaline phosphatase (ALP).

Further investigations is used to better define the lesion and stage the cancer:

CT scan
MRI scan
Bone scan
PET scan
Bone biopsy

37
Q

Managing osteosarcoma

A

Management involves surgical resection of the lesion, often with a limb amputation. Adjuvant chemotherapy is used alongside surgery to improve outcomes.

They will require support and input from the multidisciplinary team in addition to treatment of the tumour:

Paediatric oncologists and surgeons
Specialist nurses
Physiotherapy
Occupational therapy
Psychology
Dietician
Prosthetics and orthotics
Social services
The main complications are pathological bone fractures and metastasis.

38
Q

Talipes, clubfoot

A

Talipes is a fixed abnormal ankle position that presents at birth. It is also known as clubfoot. It can occur spontaneously or be associated with other syndromes. It is usually identified at birth or during the newborn examination.

Talipes equinovarus describes the ankle in plantar flexion and supination.

Talipes calcaneovalgus describes the ankle in dorsiflexion and pronation.

Talipes is treated with the “Ponseti method” with good results. Surgery may be required if the Ponseti method fails or cannot be used.

39
Q

Ponseti Method

A

The Ponseti method is a way of treating talipes without surgery. It is usually very successful. Treatment is started almost immediately after birth. It is performed by a properly trained therapist.

The foot is manipulated towards a normal position and a cast is applied to hold it in position. This is repeated over and over until the foot is in the correct position. At some point an achilles tenotomy to release tension in the achilles tendon is performed, often in clinic.

After treatment with the cast is finished a brace is used to hold the feet in the correct position when not walking until the child is around 4 years old. This brace is sometimes referred to as “boots and bars”.

40
Q

Positional Talipes

A

Positional talipes is a common condition where the resting position of the ankle is in plantar flexion and supination, however it is not fixed in this position and there is no structural boney issue in the ankle.

The muscles are slightly tight around the ankle but the bones are unaffected. The foot can still be moved into the normal position. This requires referral to a physiotherapist for some simple exercises to help the foot return to a normal position. Positional talipes will resolve with time.

41
Q

Developmental dysplasia of the hip

A

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.

DDH is either picked up during the newborn examinations or later when the child presents with hip asymmetry, reduced range of movement in the hip or a limp.

42
Q

Risk factors for developmental dysplasia of the hip

A

First degree family history
Breech presentation from 36 weeks onwards
Breech presentation at birth if 28 weeks onwards
Multiple pregnancy

43
Q

Screening for DDH

A

DDH is screened for on the neonatal examination at birth and 6-8 week old. Public Health England provides newborn and infant physical examination (NIPE) guidance on picking up DDH. When examining, look for symmetry in the hips, leg length, skin folds and hip movements. 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
Barlow test
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.

44
Q

Diagnosing DDH

A

Where children are suspected of having DDH, ultrasound of the hips is the investigation of choice and can establish the diagnosis. All children with risk factors or examination findings suggestive of DDH should have an ultrasound.

Xrays can also be helpful, particularly in older infants.

45
Q

Managing DDH

A

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.

46
Q

Rickets

A

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.

47
Q

Causes of rickets

A

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.

There is a rare form of rickets caused by genetic defects that result in low phosphate in the blood. This is called hereditary hypophosphataemic rickets. The most common form is x-linked dominant, however it also has other modes of inheritance.

Simplified Pathophysiology

Vitamin D is a hormone (not technically a vitamin) created from cholesterol by the skin in response to UV radiation. Patients with darker skin require a longer period of sun exposure to generate the same quantity of vitamin D. A standard diet contains inadequate levels of vitamin D to compensate for a lack of sun exposure. Reduced sun exposure without vitamin D supplementation leads to vitamin D deficiency.

Patients with malabsorption disorders (such as inflammatory bowel disease) are more likely to have vitamin D deficiency. The kidneys are essential in metabolising vitamin D to its active form, therefore vitamin D deficiency is common in chronic kidney disease.

Vitamin D is essential in calcium and phosphate absorption from the intestines and kidneys. Vitamin D is also responsible for regulating bone turnover and promoting bone reabsorption to boost the serum calcium level.

Inadequate vitamin D leads to a lack of calcium and phosphate in the blood. Since calcium and phosphate are required for the construction of bone, low levels result in defective bone mineralisation. Low calcium causes a secondary hyperparathyroidism as the parathyroid gland tries to raise the calcium level by secreting parathyroid hormone. Parathyroid hormone stimulates increased reabsorption of calcium from the bones. This causes further problems with bone mineralisation.

48
Q

Presentation of rickets

A

Patients with vitamin D deficiency and rickets may not have any symptoms. Potential symptoms are:

Lethargy
Bone pain
Swollen wrists
Bone deformity
Poor growth
Dental problems
Muscle weakness
Pathological or abnormal 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
TOM TIP: Think about the risk factors for vitamin D deficiency in your exams and clinical practice. Patients with rickets are likely to have risk factors such as darker skin, low exposure to sunlight, live in colder climates and spend the majority of their time indoors.

49
Q

Investigating rickets

A

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

50
Q

Managing rickets

A

Prevention is the best management for rickets. Breastfed babies are at higher risk of vitamin D deficiency compared with formula fed babies, as formula feed is fortified with vitamin D. Breastfeeding women and all children should take a vitamin D supplement. NICE clinical knowledge summaries recommend supplements containing 400 IU (10 micrograms) per day for children and young people.

Children with vitamin D deficiency can be treated with vitamin D (ergocalciferol). The doses for treatment of vitamin D deficiency depend on the age (see the BNF). The dose for children between 6 months and 12 years is 6,000 IU per day for 8 – 12 weeks.

Children with features of rickets should be referred to a paediatrician. Vitamin D and calcium supplementation is used to treat rickets.

51
Q

Achondroplasia

A

Achondroplasia is the most common cause of disproportionate short stature (dwarfism). It is a type of skeletal dysplasia.

52
Q

Genetics of Achondroplasia

A

The achondroplasia gene, fibroblast growth factor receptor 3 (FGFR3), is on chromosome 4. Achondroplasia results from either a sporadic mutation or inheritance of an abnormal copy of this gene. The condition is inherited in an autosomal dominant pattern. Homozygous gene mutations, meaning two abnormal gene copies with one from each parent, is fatal in the neonatal period. Therefore, patients with achondroplasia have one normal gene and one abnormal gene.

Mutations in the FGFR3 gene causes abnormal function of the epiphyseal plates (growth plates). This restricts the bone growth in length, leading to short bones and short stature.

53
Q

Features of Achondroplasia

A

Patients with achondroplasia have disproportionate short stature. The average height is around 4 feet. The limbs are most affected by reduce bone length. The femur and humerus (proximal limbs) are affected more than the bones of the forearm and lower leg. The spine length is less affected and patients have a normal trunk length. Intelligence and life expectancy are not affected by the condition.

Other features of the condition:

Short digits
Bow legs (genu varum)
Disproportionate skull
Foramen magnum stenosis
Different areas of the skull grow by different methods, some of which are affected more than others. This leads to a disproportionate skull. The skull base grows and fuses via endochondral ossification, which is affected by achondroplasia and leads to a flattened mid-face and nasal bridge and foramen magnum stenosis. The cranial vault grows and fuses via membranous ossification, which is unaffected by achondroplasia and leads to a normal sized vault and frontal bossing (prominent forehead).

54
Q

Conditions associated with Achondroplasia

A

Recurrent otitis media, due to cranial abnormalities
Kyphoscoliosis
Spinal stenosis
Obstructive sleep apnoea
Obesity
Foramen magnum stenosis can lead to cervical cord compression and hydrocephalus

55
Q

Managing Achondroplasia

A

There is no cure for the underlying genetic condition. Management will involve the multidisciplinary team to support the patient with development and maximise functioning:

Paediatricians
Specialist nurses
Physiotherapists
Occupational therapists
Dieticians
Orthopaedic surgeons
ENT surgeons
Geneticists
Leg lengthening surgery can add height, but requires extensive surgery and recovery. It involves cutting the bone (osteotomy) and separating the two parts, creating a gap between them (distraction). Over a long period of time bone will form between the two parts, creating a longer bone. This is controversial and has the potential to lead to significant problems, including chronic pain and reduced function.

56
Q

Prognosis of Achondroplasia

A

Patients have a normal life expectancy if they are not affected by complications. Patients have a tendency to become relatively overweight due to small stature. There are psychosocial implications to the disproportionate short stature.

57
Q

Osgood-Schlatter disease

A

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.

58
Q

Pathophysiology of Osgood-Schlatter disease

A

The patella tendon inserts into the tibial tuberosity. The tibial tuberosity is at the epiphyseal plate. Stress from running, jumping and other movements simultaneously as growth in the epiphyseal plate results 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 the growth of the tibial tuberosity, causing a visible lump below the knee. Initially, this bump is tender due to the inflammation, but as the bone heals and the inflammation settles it becomes hard and non-tender.

59
Q

Presentation of Osgood-Schlatter disease

A

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
The pain is exacerbated by physical activity, kneeling and on extension of the knee

60
Q

Managing Osgood-Schlatter disease

A

Initial management focuses on reducing the pain and inflammation.

Reduction in physical activity
Ice
NSAIDS (ibuprofen) for symptomatic relief
Once symptoms settle, stretching and physiotherapy can be used to strengthen the joint and improve function.

61
Q

Prognosis of Osgood-Schlatter disease

A

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.

62
Q

Osteogenesis imperfecta

A

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.

63
Q

Presentation of osteogenesis imperfecta

A

Osteogenesis imperfecta presents with recurrent and inappropriate fractures. There are several associated features:

Hypermobility
Blue / grey sclera (the “whites” of the eyes)
Triangular face
Short stature
Deafness from early adulthood
Dental problems, particularly with formation of teeth
Bone deformities, such as bowed legs and scoliosis
Joint and bone pain
TOM TIP: The key feature that often appears in exams that should make you think about osteogenesis imperfecta is the blue sclera. This is a unique feature that examiners love to drop in. The exam patient may be a young child with unusual and recurrent fractures that would normally make you consider safeguarding, however “you notice a blue discolouration to the sclera”.

64
Q

Managing Osteogenesis Imperfecta

A

Osteogenesis imperfecta is a clinical diagnosis. Xrays can be helpful in diagnosing fractures and bone deformities. Genetic testing is possible but not always done routinely.

The underlying genetic condition cannot be cured. Medical treatments include:

Bisphosphates to increase bone density
Vitamin D supplementation to prevent deficiency
Management is done by the multidisciplinary team, with:

Physiotherapy and occupational therapy to maximise strength and function
Paediatricians for medial treatment and follow up
Orthopaedic surgeons to manage fractures
Specialist nurses for advice and support
Social workers for social and financial support