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3a Child Health > MSK > Flashcards

MSK Flashcards

1
Q

What is osteogenesis imperfecta

A

a group of genetic disorders of collagen metabolism causing bone fragility

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2
Q

What is the most common inheritance pattern in osteogenesis imperfecta

A

Autosomal dominant

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3
Q

What classification is used categorise osteogenesis imperfecta based on phenotypic severity

A

Sillence classification

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4
Q

Describe the 4 types of osteogenesis imperfecta based on phenotypic severity

A
  • Type I: mild, non-deforming (fewer fractures, blue sclera)
  • Type II: severe perinatal (lethal in infantile period, blue sclera)
  • Type III: progressively deforming (multiple fractures, blue sclera)
  • Type IV: moderately deforming (multiple fractures, grey or white sclera)
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5
Q

Most cases of osteogenesis imperfecta are caused by mutation in which 2 genes

A

COL1A1 or COL1A2

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6
Q

Give 5 clinical features of osteogenesis imperfecta

A
  • recurrent fragility fractures
  • blue-grey sclera
  • hypermobility
  • hearing loss
  • dental abnormalities
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7
Q

Give 3 abnormal facial features that may be seen in osteogenesis imperfecta

A
  • triangle face
  • frontal bossing
  • broad forehead
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8
Q

How is osteogenesis imperfecta diagnosed

A
  • skeletal survey - reveal fractures and bone deformities
  • DXA scan - bone density
  • genetic testing
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9
Q

How is osteogenesis imperfecta managed

A
  • MDT: orthopaedics, physio, OT, dentistry etc
  • Vit D/ calcium supplements
  • bisphosphonates - increase bone density
  • lifestyle changes - safe handling techniques, physical activity, avoid smoking/drinking/corticosteroids
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10
Q

What is rickets

A

deficient mineralisation of the growing bone or osteoid tissue

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11
Q

Give 4 causes of rickets

A
  • Nutritional vitamin D deficiency - inadequate intake or insufficient exposure to direct sun
  • calcium deficiency
  • hereditary hypophosphataemic rickets - X linked dominant
  • drugs
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12
Q

Give 2 examples of vitamin D rich foods

A

Eggs
Oily fish

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13
Q

What is the main reason for inadequate vitamin D supply in infants from western countries

A

prolonged breastfeeding without vit D supplementation

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14
Q

Name a drug that can cause rickets

A

phenytoin (anticonvulsant)

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15
Q

Give 4 RFs of rickets

A
  • Malabsorptive conditions - CF, coeliac, pancreatic insufficiency
  • inadequate sun exposure
  • breastfeeding
  • calcium/ phosphate deficiency
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16
Q

Give 4 ways rickets presents

A
  • bone pain
  • poor growth
  • bone deformities
  • muscle weakness
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17
Q

Give 4 bone deformities that may be seen in rickets

A
  • bow legs - toddlers
  • knock knees - older kids
  • rachitic rosary - swelling at the costochondral junction (wrist joints)
  • craniotabes - soft skull bones
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18
Q

How is rickets investigated

A
  • XR of knee and wrists - widened epiphyseal plate
    Bloods tests:
  • serum calcium/ phosphate may be low
  • LFTs - raised ALP
  • serum 25-hydroxyvitamin D <25nmol/L
  • raised PTH
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19
Q

How is rickets managed

A
  • Vit D (ergocalciferol) and Ca supplementation
  • advice on a balanced diet
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20
Q

What is transient synovitis

A

self-limiting inflammatory disorder of the hip
aka irritable hip

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21
Q

What is the typical age group for transient synovitis?

A

3 - 10 years old

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22
Q

What are common features of transient synovitis?

A
  • Limp or refusal to weight bear
  • Groin or hip pain
  • Symptoms usually occur within a few weeks of a viral illness
  • positive log roll - leg rolled gently while child lays flat. +ve test = involuntary muscle guarding
  • Low-grade fever in a minority of patients
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23
Q

How is transient synovitis managed

A
  • self-limiting, requiring only rest and analgesia
  • exclusions of septic arthritis - if child has fever, refer for same-day assessment even if transient synovitis is suspected
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24
Q

What are the most commonly affected joints in septic arthritis?

A

hip, knee, and ankle.

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25
Q

What are the common causes of septic arthritis in children?

A
  • Staphylococcus aureus
  • Neisseria gonorrhoeae (in sexually active teenagers)
  • Group A Streptococcus (Strep pyogenes)
  • Haemophilus influenzae
  • E. coli
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26
Q

What are the signs and symptoms of septic arthritis in children?

A
  • Hot, red, swollen and painful joint
  • Limp and reduced range of motion
  • Fever
  • lethargy
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27
Q

What investigations are performed for septic arthritis

A
  • Joint aspiration for culture (will show raised WBC)
  • Raised inflammatory markers
    Blood cultures
28
Q

What is the management for septic arthritis in children?

A
  • Admission to hospital - prompt treatment can reduce risk of permanent joint damage
  • Empirical IV antibiotics followed by specific antibiotics based on sensitivities
  • Surgical drainage and washout may be needed
29
Q

Name and describe the criteria that is used to assess the probability of septic arthritis in children

A

Kocher criteria:
* fever >38.5 degrees C
* non-weight bearing
* raised ESR
* raised WCC

30
Q

What is osteomyelitis

A

Infection of the bone and bone marrow - typically in the metaphysis of the long bones

31
Q

What bacteria commonly cause osteomyelitis

A
  • Staph. aureus - mc
  • Salmonella in sickle cell anaemia
  • Pseudomonas aeruginosa (IVDU)
  • Aerobic gram -ve bacilli
32
Q

Give some RFs of osteomyelitis in children

A
  • Males under 10
  • Open bone fractures
  • Orthopaedic surgery
  • Immunocompromised/ HIV
  • Sickle cell anaemia
  • TB
33
Q

How does osteomyelitis present in children

A
  • fever
  • Refusing to use the limb or weight bear
  • Pain
  • Swelling
  • Tenderness
34
Q

How is osteomyelitis investigated in children

A
  • X-rays are first line
  • MRI are gold standard imaging
  • Bloods: raised CRP, ESR and white cells
  • Blood cultures - causative organism
  • Bone marrow aspiration
35
Q

How is osteomyelitis managed in children

A
  • Extensive and prolonged antibiotic therapy (flucloxacillin or clindamycin)
  • Surgery may be needed for drainage and debridement of the infected bone
36
Q

What is Perthes’ disease?

A

Perthes’ disease is a degenerative condition affecting the hip joints in children
(Legg-calve-perthes disease)

37
Q

What is the pathophysiology of Perthes’ disease?

A

avascular necrosis of the femoral head, specifically the femoral epiphysis, due to impaired blood supply, leading to bone infarction
idiopathic cause

38
Q

What age group is most commonly affected by Perthes’ disease, and which gender is more frequently impacted?

A
  • usually affects children between 4-8 years old
  • 5 times more common in boys
39
Q

What are the features of Perthes’ disease?

A
  • Hip pain that develops progressively over a few weeks
  • Limp
  • Stiffness
40
Q

How is Perthes’ disease diagnosed?

A
  • Plain XR - widening of joint space, decreased femoral head size/flattening
  • Technetium bone scan or MRI if X-ray is normal and symptoms persist
  • Blood test to exclude other causes
41
Q

What is the management approach for Perthes’ disease?

A
  • To keep the femoral head within the acetabulum: cast, braces
  • mobilisation with monitoring
  • simple analgesia
  • If less than 6 years: observation
  • Surgery for severe cases, older children, or those not healing
42
Q

What are the complications of Perthes’ disease?

A
  • Osteoarthritis
  • Premature fusion of the growth plates
43
Q

What is slipped upper femoral epiphysis ?

A

aka slipped capital femoral epiphysis, is a condition where the head of the femur is displaced (“slips”) along the growth plate

44
Q

What is the typical age range for presentation of slipped upper femoral epiphysis ?

A

typically presents in children aged 8 to 15 years

45
Q

Give 2 RFs for slipped upper femoral epiphysis

A
  • obese children
  • boys
46
Q

What are the presenting symptoms of slipped upper femoral epiphysis?

A
  • Hip, groin, thigh, or knee pain
  • Restricted range of movement in the hip
  • Painful limp
  • loss of internal rotation of the hip in flexion
  • May present acutely following minor trauma
47
Q

How is slipped upper femoral epiphysis investigated?

A
  • XR : AP and lateral (frog leg view) - will show the femoral head displaced and falling inferolaterally
  • inflammatory markers may be used to exclude other causes
48
Q

How is slipped upper femoral epiphysis managed?

A
  • surgery: internal fixation
  • bed rest and non-weight bearing
49
Q

Give 3 complications of slipped upper femoral epiphysis

A
  • avascular necrosis of the femoral head
  • chondrolysis
  • leg length discrepancy
50
Q

What is developmental dysplasia of the hip

A

a structural abnormality in the hips caused by abnormal development of the fetal bones during pregnancy

51
Q

How is developmental dysplasia of the hip typically detected?

A

DDH is often picked up during newborn examinations or later when the child presents with:
* Hip asymmetry
* Reduced range of movement in the hip
* A limp

52
Q

What are some risk factors for developmental dysplasia of the hip?

A
  • First-degree family history of DDH
  • female
  • Breech presentation
  • oligohydramnios
  • birth weight > 5 kg
53
Q

Which infants require a routine ultrasound examination for DDH?

A
  • First-degree family history of hip problems in early life
  • all breech babies at or after 36 weeks gestation, regardless of birth presentation or mode of delivery
  • Multiple pregnancy
54
Q

all infants are screened at both the newborn check and also the six-week baby check for DDH using which two tests?

A

Barlow and Ortolani tests

55
Q

What are some positive findings of DDH on the NIPE examination?

A
  • Different leg lengths
  • Restricted hip abduction on one side
  • Difference in knee level when hips are flexed
  • Clunking of the hips during special tests (Ortolani and Barlow tests)
56
Q

How may missed DDH present in an older child

A
  • Trendelenburg gait
  • leg length discrepancy
57
Q

Describe the Barlow and Ortolani tests

A

Barlow: attempted dislocation of a newborn’s articulated femoral head
Ortolani test: attempts to relocate a dislocated femoral head

58
Q

What imaging technique is used to confirm the diagnosis of DDH?

A
  • Ultrasound is generally used to confirm the diagnosis if clinically suspected
  • If the infant is > 4.5 months, X-ray is the first-line investigation.
59
Q

What is the management for developmental dysplasia of the hip

A
  • most unstable hips will spontaneously stabilise by 3-6 weeks of age
  • Pavlik harness in children younger than 4-5 months
  • older children may require surgery
60
Q

What is Juvenile idiopathic arthritis

A

arthritis (without any other cause) occurring in someone who is less than 16 years old that lasts for more than 6 weeks

61
Q

Name 3 subtypes of Juvenile idiopathic arthritis

A
  • Systemic JIA (still’s disease)
  • Polyarticular JIA
  • Oligoarticular JIA (pauciarticular) - most common
62
Q

Give some features of systemic JIA

A
  • Subtle salmon-pink rash
  • High swinging fevers
  • Enlarged lymph nodes
  • weight loss
  • Joint inflammation and pain
63
Q

What are the typical lab findings in systemic JIA?

A
  • Antinuclear antibodies (ANAs) and rheumatoid factors are typically negative.
  • raised CRP, ESR, platelets and serum ferritin
64
Q

What is oligoarticular juvenile idiopathic arthritis

A

involves 4 joints or less and usually affects a single joint (monoarthritis)

65
Q

How does oligoarticular JIA typically present

A
  • joint pain and swelling: usually medium sized joints e.g. knees, ankles, elbows
  • limp
  • associated with anterior uveitis
66
Q

What are the typical laboratory findings in oligoarticular JIA?

A
  • Inflammatory markers are usually normal or mildly elevated
  • Antinuclear antibodies (ANAs) are often positive
  • rheumatoid factor is usually negative
67
Q

How is juvenile idiopathic arthritis managed

A
  • NSAIDs, e.g. ibuprofen
  • Steroids, either oral, IM or intra-artricular in oligoarthritis
  • DMARDs e.g. methotrexate, sulfasalazine and leflunomide
  • Biologics, e.g. tumour necrosis factor inhibitors etanercept, infliximab and adalimuma

3a Child Health (19 decks)

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