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