Paeds - MSK Flashcards
Osteogenesis imperfecta
Genetic condition that results in fracture prone BRITTLE BONES.
Caused by mutations affecting collagen.
8 diff types varying in severity depending on mutations.
Osteogenesis imperfecta Sx
Recurrent/inappropriate fractures
- HYPERMOBILE
- BLU/GREY SCLERA
- Triangular face
- Short stature
- DEAFNESS (early adulthood)
- Dental problems (with forming teeth)
- Bone deform
- JOINT/BONE PAIN
Osteogenesis imperfecta Dx
Clinical
- assisted with x-rays
- sometimes Genetic testing
Osteogenesis imperfecta Mx
Incurable
- Medical
- BISPHOSPHONATES
- VIT D SUPP
- PHYSIO + OCCUPATIONAL THERAPY
+ other MDT (pediatrics, orthopedic surgery, specialist nursing + social/financial support)
Rickets
Softening + deforming of bones caused by defective bone mineralisation, particularly at growth plates -> growth retardation
Only occurs if epiphyses have not fused
Typically caused by vit D def
Common sites of rickets
Sites of rapid bone growth
- Distal forearm
- Knee
- Costochondral joints
Characteristic factors of rickets
- Growth retardation
- Bony Deformaties (spine, bowed legs, dental abnormalities, WIDENING of bones at wrist/knees)
- BONE PAIN
- Muscle weakness
- Delayed achievement of motor milestones
(sometimes hypocalcemic features e.g. paresthesia, seizures, tetany, spasm)
RFx for rickets
- AGE: 6-24 MONTHS
- BREASTFEEDING without any vit D supplementaton
- FHx
- Inadequate sunlight (sometimes potentially due to dark skin needing more sunlight)
- Calcium/Phosphate deficiency (esp while breastfeeding)
- MEDS:
- Antacids (can cause phosphate precipitation in stomach)
- Loop diuretics
- Corticosteroids
- Phenytoin (anticonvulsant - target organ calcitriol def)
Malabsorptive disorders; CKD (kidneys activate vit D) - more common in older so less likely to cause rickets
Can get 2ndry hyperparathyroid if hypocalcaemic -> worse
Rickets Dx
- X-RAY of LONG BONE (WIDE EPIPHYSEAL PLATE, loss of defintion, Looser’s zone/pseudofracture)
-
SERUM:
- calcium (norm = 2.3-2.7)
- inorganic phosphate
- 25-hydroxyvit D (norm in genetic forms)
- parathyroid hormone (high if hypocalcaemic, norm if hypophosphataemia)
- Urea + creatinine (for kidney disease)
- alk phos (can be high)
-
Urinary calcium + phosphate
- can caulculate percent Tubular Reabsorption of Phosphate -> LOW = diagnostic in absence of vit D def
+ others to rule out DDx (FBC, CRP/ESR, LFTs, KFTs, Malabsorption screen, AI tests)
Rickets Mx
Best = Prevention
- Take vit D supps/use formula while feeding (400 IU/day for kids)
- Erdocalciferol treatment if deficient (6000 IU - 8-12 wks)
- Calcium supps
Admit if symptomatic hypocalcaemia
Transient synovitis
Temporary inflam in synovial membrane - in HIP
Transient synovitis presentation
Typically presents few weeks after viral upper resp tract infection
- Limp
- Refusal to weight bear
- Groin/hip PAIN
- Mild temp
- if fever -> SEPTIC Tx
Transient synovitis RFx
- 2-12 y/o
- MALE
- Recent viral infection
Transient synovitis Ix
- FBC
- ESR/CRP
- XRAY
All should be mostly normal - mainly to exclude DDx
Shows raised fluid if USS done
Transient synovitis Tx
- symtomatic: activity restriction + PAIN RELIEF (typically NSAIDs)
- safty net for septic Sx
- follow up 48hrs + 1wk later
Transient synovitis prognosis
typically improves after 24-48 hrs and fully gone after 1-2wks
Can recur (20%)
Legg-Clave-Perthes (Perthes) disease
IDIOPATHIC disruption of blood flow to FEMORAL HEAD -> AVASCULAR NECROSIS
Affects EPIPHYSIS
Typicaly between 5-8 y/o tho can occur from 4-12 years - more commonly in boys
Perthes disease pathophys
It’s ideopathic - could be due to repeated mechanical stress
REVASCULERISATION/
NEOVASCULARISATION occurs over time -> healing + remodelling BUT leaves kid with SOFT/DEFORMED femoral head -> early onset osteoarth of hip (requiring total hip replacement)
Perthes disease Px
Slow onset
- LIMP (esp Trendelenburg)
- hip/groin PAIN
- can refer to knee
- Restricted movement
- can get muscle wasting
NO Hx OF TRAUMA -> DDx = slipped upper femoral epiphysis - more common in older
Associated w/ short stature, hyperactivity + delayed bone age
Perthes disease RFx
- MALE
- AGE: 4-8
- Low socioeconomic
- Hyper-coagulable states (usually genetic e.g. Factor V Leiden)
- joint effusion/transient synovitis
More common in northern latitudes + south asia + inner city populations
Perthes disease Dx
-
1st = BILATERAL HIP XRAY
- femoral head collapse + fragmentation; subchondral frax
- BLOODS (inflam markers to exlude DDx)
- norm or slightly raised
- Technetium bone scan (scintigraphy)
- cold spot in hip in early stage
- MRI (if xrays norm but clinically sx)
Perthes disease Tx
Acute = reduced activity + pain relief (NSAIDs/paracetamol) +/- traction; crutches
Ongoing:
- Physio + monitoring
- Non-surgical containment if lateral extrusion (e.g. brace)
- Surgical containment if: epiphyseal involvement >50% or at stage 1/2 at 7-12 y/o
- Any worse = salvage procedure
- >12 with arthritis = replacement arthroplasty after skeletal maturity
Assess with regular xrays
Causes of Hip Pain
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
DON’T FORGET NEURO/SPINE PROBLEMS
Red flags for hip pain
- Child under 3 years
- Fever
- Weight loss/Anorexia
- Night sweats
- Fatigue
- Persistent pain/Waking at night with pain
- Morning stiffness
- Swollen or red joint
When is urgent referral require for a limping child
- if they are UNDER 3
- > 9 with pain/restricted ROM
- Not able to weight bear
- Evidence of neurovascular compromise
- Severe pain or agitation
- Red flags for serious pathology
- Suspicion of abuse
Slipped Upper Femoral Epiphysis (SUFE)
Head of fenur slips along growth plate - fracture through growth plate
More common in boys aged 8-15 - esp OBESE kids
- girls tend to present a bit younger
SUFE Px
Obese teen male having a GROWTH SPURT - could be triggered by minor trauma but DISPROPORTIONATE PAIN
- PAIN (hip, groin, thigh, knee)
- BILATERAL in hips 60% of time
- Typically KNEE PAIN
- RESTRICTED hip MOVEMENT
- ANTALGIC/TRENDELENBURG GAIT
Pt keeps hip EXTERNALLY ROTATED - restricted int rotation
SUFE RFx
- PUBERTY
- OBESITY
- endocrine disorders
- Male sex
- African-american or Hispanic ancestry
- Prior radiotherapy
SUFE Dx
-
X-RAYS
- Bilateral antero-posterior
- FROG-LEG LATERAL
- Klein lines (drawn along superior cortex of NOF) - doesn’t intersect epiphysis (ABNORMAL)
Consider:
- Metabolic panel
- Serum TFTs
- Serum GH
- Other bloods (to exclude inflam)
- Technitium bone scan
- CT or MRI
SCFE Tx
Unstable:
- Urgent Surgical repair +/- prophylactically fix other hip too
Stable SCFE:
- 1st: IN SITU SCREW FIXATION
- 2nd: Open reduction + internal fixation with surgical hip dislocation
- 3rd: Bone graft epiphysiodesis
+/- porphylactic fixation
Late deformity:
- Corrective surgery
Developmental dysplasia of the Hip (DDH)
Structural abnormality of hips caused by abnormal development of FETAL bones during preg.
Causes instability -> risk of subluxation/dislocation.
DDH RFx
- FIRST DEGREE FHx
- BREECH PRESENTATION (from 36wks or at birth from 28wks)
- Multiple preg
- more common in females
- postural deform
- Having 1st baby
- Packaging disorder
DDH Px:
Oft picked up during NEWBORN EXAMINATIONS:
-
Diff leg lengths/Difference in the knee level when the hips are flexed
- Galliazi test
- RESTRICTED hip abduction on one side; Trendelenburg gait
- Significant BILATERAL RESTRICTED ABDUCTION
-
CLUNKING of the hips on special tests (basically testing dislocation)
- Ortolani test
- Barlow test
Otherwise:
- LIMP, Pain, Leg length deform
- Unilateral toe-walking
- Abnormal positioning of leg
- Delayed crawling/walking
DDH Dx
1st: USS - everyone with RFx/exam findings
X-rays in older babies
- Abnormal relationship between femoral head + acetabulam
DDH Tx
PAVLIK HARNESS if LESS THAN 6 MONTHS
- fitted harness which holds femoral head in right place to allow development of normal acetabulum shape - kept on permanently
- usually removed after 6-8wks (once more stable)
- May use more ridgid abduction brace 2nd line
Surg required if older/harness fails
-> HIP SPICA CAST (immobolises for a while)
Hip reconstruction or salvage osteotomies if >6 y/o
Juvenile Idiopathic Artritis (JIA)
Group of chronic pediatric inflam arthritides
- characterised by ONSET BEFORE 16 YEARS + Objective arthritis (infalm Sx) in at least one joint for AT LEAST 6 WEEKS
JIA RFx
- FEMALE
- HLA polymorphism
- FHx of AI CONDITIONS
Potential relation to Antibiotic exposure in childhood
OFt associated with/2ndry to other chronic conditions - IBD. coeliacs
JIA Sx
- Joint PAIN, SWELLING
- FEVER
-
>6 WEEKS duration
- otherwise just transient synovitis - Morning stiffness
- Limp
- Limited movement (e.g. can’t fully straighten)
- RASH; ENTHESITIS, uveitis, rheumatoid nodules
JIA Dx
- BLOODS:
- FBC,
- ESR/CRP
- ANA (positive in oligoarticular JIA)
- RF (2 positive test required)
- anti-CCP (possitive in RF-positive polyarticular JIA)
- USS (synovitis - good for idenifying joints which need corticosteroid injection)
Chlamydia serology (rule out Reactive)
Ferritin (if systemic onset JIA is suspected)
MRI to rule out (synovial fluid/thickening)
JIA Tx
1st line for inflam in general = steroids
(methyl/prednisolone; IV; Joint injections)
- 1st: DMARD for polyarticular with 5 or more involved (at any point)
-
METHOTREXATE (not well tolerated)
- IM
- Nausea
-
METHOTREXATE (not well tolerated)
- 1st: Intrasrticular corticosteroid injections for OLIGOARTICLUAR (4 or less involved ever)
- 1st: NSAIDs for everything else
Escalate to biologics (TNF-a inhib):
- Adalimumab
- Etanercept
If they have systemic onset JIA with macrophage activation syndrome (life threatening complication) - need to start with biologics (IL-1 or IL-6 typically)
Criteria for Macrophage activation syndrome (MAS aka HLH)
- FEBRILE
- Known/suspected systemic onset JIA
-
ferritin >684 micrograms/L (>684 ng/mL) and any two of:
- platelet count ≤181 x 10⁹/L,
- aspartate aminotransferase >48 U/L,
- triglycerides >1.76 mmol/L (>156 mg/dL),
- fibrinogen ≤3.6 g/L (≤360 mg/dL)
CRP and ESR can go down due to prolonged inflam
Osgood-Schlatter disease (OSD)
Knee pain caused by inflam at TIBIAL TUBEROSITY at INSERTION OF PATELLA LIGAMENT. An overuse syndrome.
Usually UNILATERAL but can be bilateral.
More common in males. TYpically ages 10-15.
Osgood-Schlatter disease pathophys
Tibial tuberosity/patella tendon insertion is AT THE EPIPHYSEAL PLATE. Mechanical stress combined with growth ain epiphyseal plate = INFLAM of TIBIAL EPIPHYSEAL PLATE
Multiple small avulsion fractures occur (patella ligament pulls away tiny pieces of bone from tibial epiphyseal plate) FORMING TIBIAL TUBEROSITY.
- Initially tender from infalm but hard + non-tender.
OSD RFx
- Teen males
- ATHLETIC PARTICIPATION
- Hx of OSD in other knee
High position of patella; more proximal tendon insertion; Increased external tibial torsion
OSD Sx
- LOCALISED PAIN/Tenderness; swelling, warmth
- Activity limitation
- Prominence of tibial tubercule
- Pain at tubercule with resisted knee extension
OSD Dx
- PLAIN X-RAYS
USS/MRI
OSD Mx
Acute -> symtomatic relief
- reduce physical activity
- ICE
- NSAIDs
After:
- stretching + physio
potential compilcation of OSD
Full avulsion fracture - tibial tuberosity seperated from rest of tibia
- surgical intervention
Investigations for limping child
- Bloods: FBC, ESR/CRP, cultures if infection suspected
- Xrays (look at joint above + below) - 2 views
- USS - better for soft tissue + infection
MRI requires sedation for young kids
Red flags for limping child
Unable to weight bear
Fever
Systemic illness
Severe pain
Limp or pain - worsening
Pain- waking the child at night
Redness, swelling and stiffness
Weight loss, anorexia
Most common cause of limp in kids
Transient synovitis
Septic arthritis spread
Direct, Haematogenous, Extension from adjacent bone/soft tissue
Classic positioning of leg in septic arth of hip
bent and externally rotated
Score for septic arth
Kocher Criteria (4/4 = 99% chance of septic arthritis)
septic arth vs osteomyelitis aetiology
septic arth = most common <2 y/o
osteomyelitis most common <10 y/o
osteomyelitis pathophys
Suspected to be due to slow, rich blood flow to metaphysis with less immune cells available in area
septic arthritis vs osteomyelitis Px
septic arthritis is more likely to have systemic symptoms + swollen joint
Which imaging is best for infection
USS (including in bone infection)
What to do for febrile child
Just give Abx if suspected sepsis
Common traumas causing limp
- Fracture
- small kids tend to keep walking due to thick periosteum
- look for bruising, seelling, tendernedd
- Toddler’s fracture
- Foreign bodies
- Non-accidental injury
Red flags for non-accidental injury
Any brusing <4-6 months
Injury location
Any fracture in non-ambulatory child
What to do if worried about non-accidental injury
All usual stuff but just admit if very concerned
Red flags for bone cancer
Nigh tpain
Pain doesn’t go after treatment
Lump in soft tissues/bone
Can also get systemic Sx
Bone tumour on x-ray
Bony destruction/hole
Soft tissue swelling
New bone formation
good resourse is good for neuro exam
asia chart
most likely location of septic arthritis
hip
Define chronic illness
Long term illness that impact an individuals functioning (lasting more than 6 months/1 year)
Complications of JIA
- Wheelchair bound
- Jaw stiffness
- Enthesitis
- Ank spond -> spinal stiffness
- Uveitis -> loss of vision
Types of JIA
- Oligoarticular: 1-4 joints
- Increases to >4 joints within a month = oligoarticular extended
- Particularly prone to uveitis
Oligoarticular = ANA +VE
-
Polyarticular: >5 joints; usually small joints
- Rheumatoid factor +ve
- RF -ve
Esp in teen girls - more likely to get rheumatoid later on
-
Psoriatic arthritis (large joints/fingers esp)
- if child or 1st degree relative has psoriasis -
Enthesitis related arthritis (places where tendons attach)
- closely related to Ank spond + HLA B27 -
System onset JIA (oft starts with pyrexia of unknown origin but the fevers follow a pattern)
- salmon pink rash; worse during fever
Juvenile SLE common features
- Skin, kidneys + joints = most common sites of presentation
- thrombocytopenia common
- High ds-DNA
- or High ANA
Juvenile Dermatomyositis
- Inflamed nailbeds
- Gottron’s capsules on extensor surfaces
- Heliotrope rash on cheeks
- Muscle weakness
- Oft have swallowing problems which can lead to aspiration
Ab +ve tends to have worse prognosis + need biologics
Biopsychosocial impact of JIA + the Tx
Biologics can delay growth/puberty
Psychological:
- Sick role, regression, mental health, body image
Social:
- Reduced independance
- Lack of peer relationship
- Poor school attendance
Scoliosis
Abnormal lateral curvature of the spine
- most commonly initially presents in kids 10-15 y/o
Scoliosis Px
- visibly curved spine
- leaning to 1 side
- uneven shoulders
- 1 shoulder or hip sticking out
- the ribs sticking out on 1 side
- clothes not fitting well
Causes of scoliosis
8 in 10 cases idiopathic
- some genetic predisposition (can run in families)
- congenital scoliosis
- NEUROMUSCULAR scoliosis (cerebral palsey, muscular dystrophy)
(- Degenerative scoliosis in older adults)
Tx for scoliosis
- May improve over time in infants
- plaster cast / plastic brace to prevent deterioration
- Back brace (older kids while still growing)
- Surgery:
- Younger kids:
- minor procedure - rods inserted into back
- remotely activates magnets in rods to lengthen
- Younger kids:
- Surgical straightening aka SPINAL FUSION is an option once growth has stopped (major operation)
- may need:
- Analgesia, intrathecal analgesia + surgery as adults
Risks of spinal surgery for scoliosis
- Bleeding
- Infection
- Rods moving or grafts not attaching
- Rarely - nerve damage (-> leg paralysis + incontinence)
Torticollis
Painful, dystonia of neck -> abnormal head / neck position
Causes of torticollis
Mainly idiopathic
- pain usually self-resoles after a few days
- Muscular fibrosis
- Congenital spinal abnormalities
- Brain injuries / tumours
- Trauma
- Drugs - esp antipsychotics + some antiemetics
- Infection e.g. esp in post-pharynx OR tetanus
Torticollis Sx
Visible shape:
- Laterocollis
- Rotational torticollis
- Anterocolis
- Retrocollis
Other:
- Pain
- Occasional mass formation
- Thickened / tight sternocleidomastoid muscle
- Tenderness on c-spine
- Head tremor
- Unequal shoulder heights
- Decreased neck movements
Torticollis Dx:
Find underlying cause
- US muscle tissue
- opthalmologic evaluation to ensure it is not caused by vision problems
Torticollis Tx
- Physio
- Sometimes use TOT collar
- Microcurrent therapy (experimental)
- Surgicla release of seternocleidomastoid heads
- Analgesia
- Muscle relaxents e.g. diazepam
- Botulinum toxin
- US diathermy
