MSK: Rickets, Talipes, Osteogenesis Imperfecta & Osgood-Schlatter

Question 1

What is rickets?

Answer 1

Conditoon in children where eficiency in vitamin D, calcium or phosphorus leads to defective bone mineralisation.

This leads to “soft” and deformed bones.

Question 2

What is ‘rickets’ called in adults?

Answer 2

In adults the same process leads to a condition called osteomalacia

Question 3

What is deficient in rickets?

Answer 3

Vitamin D, calcium or phosphorus.

Question 4

What are the most common symptoms of rickets?

Answer 4

• Bone pain
• Muscle weakness
• Delayed growth
• Skeletal deformities such as bowed legs or a curved spine
• Swollen wrists
• Lethargy
• Dental problems
• Pathological or abnormal fractures

Question 5

There is a rare form of rickets caused by genetic defects that result in low phosphate in the blood.

What is this called?

Answer 5

Hereditary hypophosphataemic rickets

Question 6

How is vitamin D created?

Answer 6

Created from cholesterol by the skin in response to UV radiation.

Question 7

Why is vitamin D often deficient in CKD?

Answer 7

As kidneys required to metabolise vitamin D to its active form.

Question 8

Vitamin D is essential for the absorption of which 2 minerals?

Answer 8

Calcium & phosphorus

Question 9

One of the most prominent features of rickets is skeletal deformities resulting from undermineralised and weakened bones.

What are some deformities?

Answer 9

• Craniotabes
• Frontal bossing
• Rachitic rosary
• Bowing deformities e.g. bowlegs (genu varum) or knock-knees (genu valgum)
• Pectus carinatum (pigeon chest) or pectus excavatum (funnel chest)

Question 10

What is craniotabes?

Answer 10

Softening and thinning of the SKULL bones that may present as a palpable depression.

Question 11

What is frontal bossing?

Answer 11

Prominent forehead with an exaggerated curvature.

Question 12

What is rachitic rosary?

Answer 12

Swelling at the costochondral junctions resembling beads along the rib cage.

Question 13

What are some dental problems seen in rickets?

Answer 13

Delayed dentition, enamel hypoplasia, and increased susceptibility to dental caries are commonly observed in children with rickets.

Question 14

What are some risk factors for rickets?

Answer 14

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.

Question 15

What is the laboratory investigation for vitamin D?

Answer 15

Serum 25-hydroxyvitamin D

Question 16

What serum 25-hydroxyvitamin D establishes a diagnosis of vitamin D deficiency?

Answer 16

<25 nmol/L

Question 17

What imaging is required to diagnose rickets?

Answer 17

Xray

Question 18

Investigations in rickets?

Answer 18

1) Serum 25-hydroxyvitamin D –> low

2) Serum calcium –> reduced (hypocalcaemia may cause symptoms)

3) Serum phosphate –> low

4) Serum ALP –> raised

5) PTH –> may be high (in response to low calcium)

Question 19

Which babies are at higher risk of vitamin D deficiency?

Answer 19

Breastfed babies are at higher risk than formula fed babies –> as formula feed is fortified with vitamin D.

Question 20

Prevention of rickets?

Answer 20

Breastfeeding women and all children should take a vitamin D supplement: 400 IU (10 micrograms) per day for children and young people.

Question 21

Management of children with vitamin D deficiency?

Answer 21

vitamin D (ergocalciferol)

Question 22

What is talipes?

Answer 22

A fixed abnormal ankle position that presents at birth.
AKA clubfoot.

Question 23

When is talipes usually diagnosed?

Answer 23

On newborn exam

Question 24

Is talipes more common in males or females?

Answer 24

Males (2x)

Question 25

Is talipes bilateral or unilateral?

Answer 25

Around 50% of cases are bilateral.

Question 26

Talipes equinovarus vs talipes calcaneovalgus?

Answer 26

Equinovarus –> ankle in plantar flexion and supination (i.e. inward turning)

Calcaneovalgus –> dorsiflexion and pronation (foot lies on outer border or leg)

Question 27

What is talipes treated with?

Answer 27

The Ponseti method

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.

Question 28

What is the Ponseti method?

Answer 28

A way of treating talipes without surgery. It is usually very successful.

1) The foot is manipulated towards a normal position and a cast is applied to hold it in position.

2) This is repeated over and over until the foot is in the correct position.

3) At some point an achilles tenotomy to release tension in the achilles tendon is performed, often in clinic.

4) 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.

Question 29

What is positional talipes?

Answer 29

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.

Question 30

What are some associations with talipes equinovarus?

Answer 30

• spina bifida
• cerebral palsy
• Edward’s syndrome (trisomy 18)
• oligohydramnios

Question 31

What is osteogenesis imperfecta?

Answer 31

A genetic condition that results in brittle bones that are prone to fractures.

It is caused by a range of genetic mutations that affect the formation of collagen.

Question 32

What is collagen?

Answer 32

A protein that is essential is maintaining the structure and function of bone, as well as skin, tendons and other connective tissues

Question 33

How many types of osteogenesis imperfecta are there?

Answer 33

8 - depending on the underlying genetic mutation, and they vary in their severity.

Question 34

What is the most common type of osteogenesis imperfecta?

Answer 34

Type 1 (this is also the mildest)

Question 35

When does osteogenesis imperfecta typically present?

Answer 35

In childhood with fractures following minor trauma.

Question 36

Clinical features of osteogenesis imperfecta?

Answer 36

• Recurrent and inappropriate fractures
• Hypermobility
• Blue/grey sclera
• Short stature
• Triangular face
• Dental problems, particularly with formation of teeth
• Deafness from early adulthood due to otosclerosis

Question 37

Why does osteogenesis imperfecta cause blue sclera?

Answer 37

Caused by thin scleral collagen allowing the underlying darker choroid vasculature to be seen.

Question 38

Osteogenesis imperfecta cannot be cured.

What are 2 medical treatments involved in the management of it?

Answer 38

1) Bisphosphonates –> to increase bone density

2) Vit D supplementation –> to prevent deficiency

Question 39

How are calcium, phosphate, parathyroid hormone and ALP affected in osteogenesis imperfecta?

Answer 39

Usually normal

Question 40

What is Osgood-Schlatter disease?

Answer 40

Caused by inflammation at the TIBIAL TUBEROSITY where the patella ligament inserts.

It is a common cause of anterior knee pain in adolescents.

Question 41

Who does Osgood-Schlatter disease usually affect?

Answer 41

It typically occurs in patients aged 10 – 15 years, and is more common in males.

Question 42

Is Osgood-Schlatter disease bilateral or unilateral?

Answer 42

Usually unilateral, but it can be bilateral.

Question 43

Pathophysiology in Osgood-Schlatter disease?

Answer 43

The patella tendon inserts into the tibial tuberosity. The tibial tuberosity is at the epiphyseal plate.

Stress from running, jumping and other movements at the same time as growth in the epiphyseal plate result 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 growth of the tibial tuberosity, causing a VISIBLE LUMP below the knee.

Initially this bump is tender due to the inflammation, but has the bone heals and the inflammation settles it becomes hard and non-tender.

Question 44

Clinical features of Osgood-Schlatter disease?

Answer 44

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

Question 45

What certain high impact sports are more likely to cause Osgood-Schlatter disease?

Answer 45

Running
Jumping
Football
Gymnastics

Question 46

Management of Osgood-Schlatter disease?

Answer 46

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.

Question 47

Prognosis of Osgood-Schlatter disease?

Answer 47

Symptoms will fully resolve over time. The patient is usually left with a hard boney lump on their knee.

Question 48

What is a rare complication of Osgood-Schlatter disease?

Answer 48

A full avulsion fracture.

This is where the tibial tuberosity is separated from the rest of the tibia.