Paediatric - MSK

Question 1

what is osteoporosis in adults?

Answer 1

a disease characterised by low bone mass and micro architectural deterioration of bone tissue, leading to enhanced bone fragility and a consequent increase in fracture risk

Question 2

osteoporosis definition in children

Answer 2

1 or more vertebral crush fractures (unless in high speed traffic accident or falling from a height of >3 metres)

or

reduced size adjusted bone density

Question 3

what is the most common form of bone fragility in children?

Answer 3

osteogenesis imperfecta

Question 4

symptoms/signs of osteogenesis imperfect

Answer 4

bone fragility, fracture and deformity (constantly breaking and fixing - will not always fix straight/bowing)
:could present as little as 2 weeks old with broken leg with no trauma history

strong positive family history of fractures following trivial trauma

bone pain (high turnover)

impaired mobility

poor growth - the more affected the shorter you are (adults (like grandparents) may be shrinking)

deafness, hernias, valvular prolapse

wormian bones - of the skull on x ray in type 3

Question 5

sillence classification of Osteogenesis imperfecta

Answer 5

type 1 - mild
type 2 - lethal
type 3 - severe
type 4 - everything else (Moderate)

Question 6

how are children with osteogenesis imperfecta managed?

Answer 6

MDT

physician - bone targeted drugs - complications, pain, associated medical problems

surgeon - long bones, spine (rods in to straighten) skull base, hearing, teeth

therapists, nurses:
muscle strength, mobility (aids), social and education, home adaptation, school adaptation

Question 7

what drugs are given in OI?

and what do they do?

Answer 7

bisphosphonate therapy

increased bone mass

also

reduction in fracture frequency
increased vertebral height 
suppressed bone markets 
reduced pain 
increased overall mobility 
no adverse effect on growth

Question 8

causes of rickets

Answer 8

lack of sunlight

poor nutrition

Question 9

what does vitamin D do?

Answer 9

increase calcium absorption from the gut

If calcium is low it:
Reduces calcium loss from kidneys
increases calcium release from bone

roles in immune function/tolerance

maternal vitamin D influences bone size and mass in childhood

Question 10

what level of vitamin D is classed as deficient in the UK?

Answer 10

25

Question 11

what can maternal vitamin D deficiency do?

Answer 11

low vit D stores in the newborn
if they are exclusively breastfed can lead to (especially in prolonged unsupplemented breast feeding)

severe and life threatening

• cardiomyopathy
• hypocalcaemia
• convulsions

severe

• clinically apparent rickets- metaphysical swelling
• bony deformity

moderate
- radiological or biochem appearances

Question 12

what are the presentations of symptomatic vit D deficiency

Answer 12

bowed legs

Question 13

rickets presentations

Answer 13

rickets is due to under mineralised bones

clinically: 
metaphyseal swellings 
bowing deformities 
slowing of linear growth 
motor delay 
hypotonia 
fractures 
resp distress if extreme - multiple rib fractures leading to flail chest 

radiologically - cupping, splaying and flaying of the metaphyses

pathologically: failure to mineralise new bone

Question 14

what is the main biochemical result in rickets?

Answer 14

low fasting phosphate

also
raised serum alkaline phosphatase

if vit D deficient: raised PTH, low 25 OH-D

Question 15

how to treat vitamin D/hypocalcaemia?

Answer 15

replace!
oral vit D and calcium

unless they are fitting from hypocalcaemia you give it via IV - BUT must do this slowly

but if you worry about compliance by the family not giving them the vit D supplement
- give stoss therapy - massive amount of it D all in one go, which won’t lead to adverse calcium reaction

Question 16

if concerned about NAI in a child presenting with a fracture, what other things might you look for on examination?

Answer 16

Bruises- particular site of bruises for NAI eg. middle of cheek (where soft)

mouth- frenulum burst eg. if punched face,

bruising middle of back, face,

eye injury- subconjunctival haemorrhages eg. from shaking.

Patterned bruising eg. grab marks, belt mark, bruising on genitalia.

Question 17

what tests might you do if you suspected NAI?

Answer 17

tests:
• Skeletal survey= do arms and legs and everywhere to see if any fractures if think NAI
• CT head if <2 and think its NAI- subdurals

Question 18

how is osteogenesis imperfecta normally inherited?

Answer 18

autosomal dominant

Question 19

what is the defect in osteogenesis imperfecta?

Answer 19

defects in t1 collagen gene - makes bone more brittle

Question 20

what is a classic presentation of systemic onset JIA in children?

Answer 20

• Fever, high swinging, early evening temp for >2 week
• Rash – pink, maculopapular rash associated with the fever
• MSK pain
• Generalised lymphadenopathy
• Hepatosplenomegaly
• Normally ESR/CRP raised, raised neutrophils and platelets?

Question 21

what drugs can be used to manage JIA?

Answer 21

• NSAIDS/paracetamol acutely
• Later:
• Corticosteroids and immunosuppressants (DMARDS) (methotrexate) often used for systemic disease
• Monoclonal abx may be used – biologics

Question 22

what professionals would be involved in JIA cases?

Answer 22

Paediatrician, Physio, paed rhuematology, nurses, OPTHALMOLOGIST BECAUSE OF UVEITIS, and the GP as they might prescribe the treatment long term

school, maybe social service if difficulty in getting to appointments,

Question 23

What is rickets?

Answer 23

a disease of children caused by vitamin D deficiency, characterized by imperfect calcification, softening, and distortion of the bones typically resulting in bow legs.