context week 3 Flashcards
what is osteogenesis imperfecta
brittle bone disease, defect in maturation and organisation of Type 1 collagen.
what are the two types of osteogenesis imperfecta
autosomal dominant- mutliple fractures in childhood, short stature with deformity, blue sclera, loss of hearing
autosomal recessive - rarer, fatal prenatal or associated spinal deformity
(many genetic changes de novo)
what is osteogenesis imperfecta sometimes mistaken for
child abuse
what is shown on X-rays of osteogenesis imperfecta
mild cases have relatively normal X-rays with Hx of low energy fractures. [sometimes “psuedofractures”]
healing ability of osteogenesis imperfecta
fractures tend to heal with abundance but poor quality callus formation
treatment for osteogenesis imperfecta
splintage, traction or surgical stabilisation.
some cases can develop progressive deformity which may require multiple osteotomies and intramedullary stabilisation for correction.
what is skeletal dysplasia?
medical term for short stature (Dwarfism not used anymore).
why does skeletal dysplasia occur?
genetic error, abnormal connective tissue/ bone occurs.
what are proportionate and disproportionate statures in skeletal dysplasia?
proportionate - limb same size/proportional to spine
disproportionate - limbs and spine not proportional.
what is the commonest skeletal dysplasia? give some features of it.
achondroplasia.
autosomal dominant (80% spontaneous disease). lax ligaments and normal mental development. disproportionately short limbs to spine. wide nose, prominent forehead.
know that there are many other types of skeletal dysplasia each with their own features. (mild/severe signs/consequences/symptoms)
-
treatment for skeletal dysplasia
genetic testing of child and family.
correct deformities and lengthen limbs.
GH therapy may be appropriate
where is type 1 and 2 collagen found
1-bone, tendon, ligaments, skin
2-cartilage
what are CTDs due to?
genetic disorders of collagen synthesis
what is generalised (familial) joint laxity
CTD. double-jointed people, 5% population, more prone to ankle sprains (soft tissue injury) and painful dislocations (rucurrent shoulder/patellar)
medical name for double jointedness
generalised (familial) joint laxity
what is marfan’s?
CTD. tall, long limbs, ligamentous laxity.
what genetic abnormality occurs in Marfan’s
autosomal dominant/sporadic mutation of fibrillin gene
what are some common signs/consquences of Marfan’s
lens dislocation, retinal detachment, glaucoma,
high arched palate,
spontaneous pnuemothroax, apical blebs,
pectus excavatum/carinatum.
aortic dissction/aneurysm/regurgitation. mitral valve prolapse/regurgitation.
long arms/legs, scoliosis, arachnodactyly.
what does EDS stand for and what causes it?
Ehlers-Danlos syndrome, heterogenous condition autosomal dominantly inherited with abnormal elastin/collagen formation.
features of EDS
profound joint hyper mobility, vascular fragility, easy bruising, scoliosis, joint instability
treatment of EDS
bone surgery (wound dehiscence common as abnormal connective tissues)
Down’s syndrome is caused by what genetic problem?
trisomy 21.
features of Downs relating to CTD
short stature, joint laxity, possible recurrent dislocation (may require stabilisation), atlanto-axial instability may occur in C-spine
general background about muscular dystrophies
Duchenne muscular dystrophy
rare, X-linked, progressive muscle weakness + wasting
DMD cause
defect in dystrophin gene involved in calcium transport
DMD presentation
initially difficulty standing/climbing stairs; Gower’s sign
age 10 can’t walk, age 20 cardiac/resp failure, dead by early 20’s
investigtions for DMD
inc serum creatinine phosphokinase, abnormalities on muscle biopsy.
treatment for DMD
physio, splintage, deformity correction may inc mobility. correct severe scoliosis by surgery
Becker’s MD vs DMD
similar to DMD but less severe. able to walk until teens and die 30/40’s
upper motor neurone problem causes what?
spasticity and hyperreflexia
lower motor neurone problem causes what?
reduced tone and reflexes
name some neuromuscular disorders
cerebral palsy, spina bifida, polio.
why does Cerebral palsy occur?
onset before 2-3 years, due to insult to immature brain (before during or after birth)
causes of cerebral palsy
genetic problem, intrauterine infection in pregnancy, brain malformation, intra-cranial haemorrhage, hypoxia at birth, meningitis, premature birth.
types of cerebral palsy
hemi/di/quadratplegic;
also spastic, ataxic and athetoid(dyskinetic)
management of cerebral palsy
physio, splintage, diazepam, baclofen, botox (botolinem toxin), surgery to correct
((((also SALT’s and carers etc…))))
spina bifida cause
congenital, two halves of posterior vertebral arch fail to fuse
spina bifida types
spina bifida OCCULTA (mild) and cystica (severe)
what is spina bifida occulta?
mild = spina bifida OCCULTA. maybe no associated problems but may get tethering of spinal cord and roots.
get high arches feet and clawed tons; some have dimple of hair on back
what is spina bifida cystica?
severe, herniated contents of spinal canal.
meninges only = meningocele
meninges + spinal cord = myelomeningocele.
may be associated with hydrocelphalus (excess CSF fluid causing inc ICP).
treating spina bifida cystica
close within 48 hours surgically (prevent infection/damage). no treatment for neurological consequences.
pathogenesis of polio/poliomyelitis
viral (poliovirus by faecal-oral route), causing lower motor neurone deficit.
polio PC
systemically unwell then 3-4 days later muscle weakness and inability to move limb/paralysis, recovery possible while some stay damaged
preventable due to vaccine
polio features and treatment
paralysis, joint deformity, growth defects, can still feel/sensory neurones fine
splintage and inc mobility.
name two developmental disorders
limb malformations, obstetric brachial plexus palsy.
examples of limb malformations
extra/absent bones, short bones, fused bones, skin/soft tissue issues.
what is syndactyly?
commonest congenital malformation (failure in apoptosis). leave or may require surgery
what is polydactyly and how to treat?
extra digit,
amputate
what is fibular hemimelia, signs and treatment
partial/complete absence of fibula
shortened limb, bowing of tibia, ankle deformity
mild= limb lengthening severe= through ankle amputation + prothesis
give examples of other limb shortening deformities
deficiency in proximal femur and tibia; radial absence/hypoplasia.
where does congenital fusion occur commonly and what treatment needed
commonest between two of the tarsal bones of the foot, may be painful in childhood indicating surgery.
who does obstetric brachial plexus palsy occur in?
0.2%, large babies/twins/shoulder dystocia
what is Erb’s palsy and common features
commonest obstetric brachial plexus palsy.
injury to C5-C6, reduced innervation in deltoid, supraspinatus, infraspinatus, biceps and brachialis.
leads to internal rotation (unopposed subscapularis) giving “waiter’s tip posture”.
treating Erb’s palsy
physic give good prognosis (90% recovery).
surgical release of contractures and tendon transfers if not recovering.
what is Klumpke’s palsy
rarer, C8-T1 affected.
forceful adduction which results in paralysis of intrinsic hand muscles +/- fingers and wrist flexors.
Klumpke’s palsy association, treatment and prgonosis
possible Horner’s syndrome (disrupt of first sympathetic ganglia from T1).
no specific treatment, 50% recovery
what is TBP ( total brachial palsy) prognosis
TBP after birth carries poorest prognosis of obstetric brachial plexus palsy’s
what are some normal physical developmental milestones?
sits alone/crawls - 6-9moths stands - 8-12 months walks - 14-17 months jumps - 2 years managed stairs independently - 3 years
(note there is massive variation; missing one milestone is fine)
what are some normal near developmental milestones?
loss of primitive reflexes - 1-6 months head control - 2 months speaking - 9-12 months eating with fingers/spoon - 14 months stacks 4 blocks - 18months understand 200 words (10 a day) - 18/20months potty trained - 2/3years
what is the pattern of normal limb development (lower limb)
children go varus to valgus to neutral usually (variation is familial).
what is considered pathological variation in lower limb development? how to manage?
pathological if considered 6 degrees +/- normal mean value for that age; X-ray and chart monitoring.
majority resolve before age 10, after may require surgery.
check for underlying pathology EG: skeletal dysplasia, Blount’s, rickets…
genu varum is what condition and may be caused by what disease?
bow-legged
sometimes due to Blount’s disease
what is Blount’s disease and how to treat
growth disorder of medal proximal tibial physics.
osteotomy
what are other (except from Blounts) pathological causes of Genu varum? what can occur as complication of these
ricket’s, tumour (osteochondroma), traumatic physis injury, skeletal dysplasia. (non-patholigcal = FHx)
early onset OA can occur
What is Genu Valgum and what can it be caused by?
knock-kneed.
rickets, tumour (enchondromatosis), trauma, neurofibromatosis or idiopathic
what is in-toeing?
toes point to the midline, accentuated when running.
‘pigeon toes’
what are three causes of in-toeing and their treatments?
femoral neck anteversion - normally occurs slightly, excessive less to intoning and Genu Valgum. (no surgery)
internal tibial torsion - bone rotation inward on vertical axis, normal variation (ignore)
forefoot adduction - majority resolve, surgery considered after 7-8years
medical name for flat feet?
pes planus
background information on pes planus
20% population, usually no underlying pathology, is normal variation (arch doesn’t form in childhood)
development of flat feet to normal arched feet
born flat foot, as we walk muscles and arches develop
what are the two types of flat feet/pes planus?
fixed and mobile/flexible.
how to test if fixed and mobile/flexible flat feet?
dorsiflexion of big toe to tell difference
fixed flat foot may indicate what?
pathology (e.g.: underlying inflammatory disorder, neurological disorder or bony abnormality)
what are curly toes?
minor overlapping of toes with curling (commonly 5th toe).
treating curly toes
most self-correct, if pain or discomfort in shoes or continuation into adolescents then surgery
give examples of paediatric hip problems
DDH, SUFE, perthes, transient synovitis of the hip.
what does DDH stands for?
developmental dysplasia of the hip
what is DDH?
dislocation/subluxation of the femoral head (0.5% babies, 80% male)
commoner in left hip but 20% bilateral
risk factors for DDH
FHx, breech position, Down’s, 1st born babies, presence of congenital disorders
what happens if left untreated
shortened limb, early-onset OA, gait/mobility affected
investigations of DDH
examine babies shortly after birth; look for shortening, extra skin fold,
click/clunk on Ortoloni/Barlow manoeuvres
US if positive (X-ray cannot be used)
what does US of DDH show?
dislocated hip, unstable hip or shallow acetabulum.
why can x-rays not be used to diagnoses DDH
X-rays cannot be used in sound babies as until 4-6months femoral head is unossified.
treatment of DDH
mild → monitor
severe → palvik harness (95% fix).
older children (18months) → surgery → open education and osteotomy
what is transient synovitis of the hip
self-limiting inflammation of synovium of the joint (commonest in hip). it is the commonest cause of childhood hip pain
what can often precede transient synovitis of the hip
URTI (viral)
who does transient synovitis of the hip often affect and how?
2-10 year-old boys, present with limp and unable to bear weight.
PC of transient synovitis of the hip
limp and unable to bear weight.
ROM may be resiricted, low grade fever but not septically unwell
investigation of transient synovitis of the hip
- radiographs to exclude perches
- normal CRP may exclude septic arthritis → if doubt aspirate.
- MRI is proximal femur osteomyelitis is possible.
treatment of transient synovitis of the hip
once serious pathology excluded → NSAID and rest → resolves in a week
PC of perthes disease (or Legg-Calve-Perthes disease)
age 4-8 boys, very active boys of short stature.
pain and a limp; most cases unilateral
what does bilateral perthes suggest
thrombophilia or skeletal dysplasia.
why does perthes cause a limp?
most cases unilateral → loss of internal rotation then loss of abduction → develop positive Trendleberg test from gluteal weakness
pathogenesis of Perthes
idiopathic osteochondrosis of femoral head → femoral head transiently loses its blood supply resulting in necrosis (AVN) and subsequent growth abnormalities → subsequent remodelling may lead to collapse → OA → hip replacement in adolescents.
investigating and treating Perthes
Xray and avoid physical activity, 50% do well, occasionally femoral bone head sublease → osteotomy of acetabulum/femur
SUFE stands for what?
slipped upper femoral epiphysis
Who does SUFE normally affect?
overweight pre-pubecent adolescent boys,
what is SUFE
femoral head slips inferiorly in relation to femoral neck
risk factors for SUFE
hypothyroidism, renal disease, obesity
why does SUFE occur?
growth plate is not strong enough to support body weight and femoral epiphysis slips due to strain.
cases can be acute, chronic or acute-on-chronic.
PC of SUFE
pain in groin or only pain in knees (due to obturator nerve in hip and knee joint)
treatment of SUFE
urgent surgery to pin femoral head and prevent further slippage. bigger the slip the worse prognosis.
may require THR in late teens.
severe acute = risks AVN.
severe chronic may require osteotomy
investigation and findings in SUFE
loss of internal rotation of hip is predominant clinical sign.
X-ray changes subtly, lateral view may show slip.
what you need to remember in paediatric and adolscent knee problems?
examine hip
common examples of paediatric and adolscent knee problems
extensor mechanism problems, adolescent knee pain, patellar instability, Osteochondritis dissecans, meniscal problems.
who gets extensor mechanism problems?
common in adolescents (inc body weight and excersise).
patellar tendonitis overview and treatment
patellar tendonitis (jumpers knee) is self-limiting → rest and physio
what is apophysitis?
inflammation of growing tubercle when tendon attaches, occurs at either end of tendon.
what are the two types of apophysitis?
Osgood-schlatter disease - inflamed tibial tubercle
Sinding-larsen-johansson disease - inflamed inferior pole of patella
treatment = rest and physiotherapy, may be left with bony prominence (not require surgery)
adolescent knee pain overview and treatment
common esp in girls, self-limiting. physic and rarely surgery.
anterior knee pain due to patellofemoral dysfunction (due to muscle imbalance, ligament laxity, subtle skeletal deposition)
what is patellar instability?
dislocation and subluxation of patellar commonest in adolescents. related to trauma or predisposed by lax ligaments/bony abnormality.
what complications might patellar dislocations cause?
osteochondral fracture with a fragment of hyaline cartilage with/without subcentral bone breaking off:
small fragments = remove and big = fix by surgery
recurrent dislocations can occur, stabilises with inc age and physio. recurrent dislocation may require surgery to reconstruct
what is Osteochondritis dissecans (OCD)?
Osteochondritis where a fragment of hyaline cartilage and variable amounts of bone fragments break off the surface of the joint, the knee is commonest affected joint with medial femoral condyle most affected site.
who does Osteochondritis dissecans occur in usually + PC?
adolescent but may occur later,
PC = poorly localised pain, effusion and occasionally locking
investigating Osteochondritis dissecans
x-ray difficult to see,
MRI to diagnoses, bilateral (25%).
complications of Osteochondritis dissecans
can result in loose bodies in knee joint or “pothole”; predisposes to OA.
fragment may be fixed or removed surgically
meniscal tears background info
meniscal tears occur in kids/teens, younger have higher chance of healing with surgical meniscal repair.
treating meniscal tears
NSAID, physio, bracing, corticosteoird IA
meniscal problems
meniscal tears and discoid meniscus
basic info for discoid meniscus
some children have abnormally-shaped (variant) discoid meniscus. [usually lateral meniscus]
circular rather than C-shaped can be asymptomatic or cause pain/popping. arthroscopic partial meniscectomy may help pain/popping.
what are some paediatric foot and ankle problems?
talus Equinovarus, tarsal coalition, hallus valgus,
what is talus Equinovarus?
clubfoot, 0.2% of births, 50% bilateral, abnormal alignment of joints between talus, calcaneus and navicular. >boys
what occurs in talus Equinovarus?
plantar flexion, supination of forefoot and varus alignment of the forefoot, no immediate treatment.
risk factors for talus Equinovarus
FHx, breech position,
treatment of talus Equinovarus
eminently treatable with splint age and diagnosis obvious (early presentation).
extensive surgery and results less satisfactory (late presentation )
what method is used to treat talus Equinovarus
Ponseti technique, commode ASAP, 5/6 weekly cast changes
80% require achilles tenotomy (minor procedure) for full correction.
then bracing in boots until 3/4years old to stop recurrence
what is tarsal coalition?
abnormal bridge (bony, fiberous, cartilagenous) between calcaneus and navicular or calcaneus and talus.
PC and treatment of tarsal coalition.
painful flat feet. symptoms may improve or require corrective surgery
hallux valgus (bunion)
occurs in late adolescents and strong FHx.
surgical correction carries risk of recurrence in later life. usually NSAID, good footwear, orthotics, pain relief and rest = conservative treatment.
what are some common paediatric/adolescent spine problems.
scoliosis and spondylolisthesis.
BACK PAIN IN CHILD ALWAYS A RED FLAG
what are causes of back pain in children?
BACK PAIN IN CHILD ALWAYS A RED FLAG
infection (discitis). tumours (osteoid ostema) in children and spondylolisthesis may require prompt surgery
define scoliosis
lateral curvature of the spine (also rotational deformity).
presents > female adolescents (child = more severe.)
is scoliosis mainly idiopathic and what causes secondary scoliosis?
mostly idiopathic but can be secondary to neuromuscular disease, tumour, skeletal dysplasia or infection.
what to do with painful scoliosis?
MRI urgently
what to do with mild- non-progressive scoliosis? (majority)
doesn’t require surgery
why would surgery be considered?
large unsightly curvature fixed for cosmetic aims
to improve wheelchair posture.
scoliosis causing restrictive lung disease
what does surgery for scoliosis involve?
complex; requires vertebral fusions and long rods correcting the postural laments of the spine.
correcting larger curves carries risk of spinal cord injury.
define spondylolisthesis
slipping of one vertebrae of another
where does spondylolisthesis usually occur?
L4/L5 or L5/S1
why does spondylolisthesis occur?
due to a developmental defect or a recurrent stress fracture of the posterior element which fails to heal
risk factors for spondylolisthesis.
adolescent, inc body weight, sporty.
PC of spondylolisthesis.
low back pain and radiculopathy (if severe).
may have paradoxial “flat back” due to muscle spasm and can have “waddling gait”
what is radiculopathy?
Radiculopathy is a condition due to a compressed nerve in the spine that can cause pain, numbness, tingling, or weakness along the course of the nerve.
treatment of spondylolisthesis.
minor slip - observe + rest/physio
severe slip - stabilisation + possible reduction (risks nerve injury)
