Flashcards in CORTEXT: Paeds Deck (119):
what is the colloquial name for osteogenesis imperfecta?
brittle bone disease
What is osteogenesis imperfecta?
defect of the maturation and organisation of type 1 collagen- most of hte organic composition of bone
What is the type of genetic mutation that generally causes osteogenesis imperfect?
How does osteogenesiss imperfecta present?
mulitple fragility fractures of childhood, short stature with multiple deformities, blue sclera and loss of hearing
What is significant by osteogenesis imperfecta caused by an autosomal recessive defect?
either fatal in the peri-natal period or associated with spinal deformity
What do bones in osteogensis imperfecta tend to be like?
thin (gracile) with thin cortices and osteopenic
What is skeletal dysplasia?
short stature (dwarfism is no longer used) caused by abnormal development of bone and connective tissue
What does achondroplasia result in?
disproportionately short limbs with a prominent forehead and widened nose. joints are lax and mental development is normal
What type of collagen is found in bone, tendon and ligaments?
what is marfans syndrom?
a mutation in the fibrillin gene resulting in tall stature with disproportionately long limbs and ligamentous laxity
What are hte associated features with marfans syndrome?
high arched palate, scoliosis, flattening of the chest- pectus excavatum, eye problems, aortic aneurym and cardiac valve incompetence
What are the clinical features of Ehlers-Danlos syndrome?
profound joint hypermobility, vascular fragility with ease of bruising, joint instability, and scoliosis.
What are the MSK features of Down syndrome?
short stature, joint laxity with possible recurrent dislocation and atlanto-axial instability
What is the normal genetic type for muscular dystrophies?
What causes muscle weakness in duchenne muscular dystrophy?
a defect in the dystrophin gene involved in calcium transport
What causes death in boys with DMD?
progressive cardiac and respiratory failure
How is duchennes diagnosed?
raised serum creatinine phosphokinase and abnormalities on muscle biopsy
What is Beckers muscular dystrophy?
similar to DMD but milder and affected boys are able to walk into their teens and survive into their 30s and 40s (compared with early 20s with DMD)
What are the signs of an upper motor neuron lesion?
weakness, spasticity, hyperreflexia and an extensor plantar response
What are the signs of a LMN lesion?
weakness, reduced tone and hypo- or areflexia
What are the causes of cerebral palsy?
genetic problems; brain malformation; intrauterine infection in early pregnancy; prematurity; intra-cranial haemorrhage; hypoxia during birth and meningitis
What are the MSK problems that can develop with CP?
joint contractures, scoliosis and hip dislocation
What are hte non-surgical treatments for cP?
PT; splintage; baclofen and botox- to reduce spasticity
What is spina bifida?
a congential disorder where the two halves of the posterior vertberal arch fail to fuse, probably in the first 6 weeks of gestation
What is the mildest form of spina bifida?
spina bifida occulta
What are the 2 types of spina bifida cystica?
meningocele or myelomeningocele
What is poliomyelitis?
a viral infection which affects motor anterior horn cells in the spinal cord or brainstem resulting a lower motor neurone deficit
How does the polio virus enter the body?
via the GI tract
What are the early signs of polio?
a flu-like illness and a variable degree of paralysis usually affecting a group of muscles of one limb within 2-3days
Is sensation affected with polio?
What is syndactyly?
two digits are fused due to failure of separation fo the skin./soft tissues or phalanges of adjacent digits either partially or along the entire length of the digits
What is polydactyly?
an extra digit is formed
What is fibular hemimelia?
where there is partial or complete absence of the fibular
What does fibular hemimelia lead to?
a shortened limb, bowing of the tibia and ankle deformity
What is tarsal coalition?
a fusion between two of the tarsal bones of hte foot
What can tarsal coalition cause?
painful flat feet in later childhood
Who do obstetric brachial plexus palsy commonly arise in?
large babies; twin deliveries and shoulder dystocia
What is the commonest type of obs brachial plexus palsy?
What happens in Erb's palsy?
injury to the upper (C5 and 6) nerve roots resulting loss of motor innervation of the deltoid; supraspinatus; infraspinatus; biceps and brachialis muscles
Why is there internal rotation of the humerus in Erb's palsy?
unopposed subscapularis action
What is the treatment for Erb's palsy?
What is Klumpke's palsy?
lower brachial plexus injury (C8 and T1)
What causes Klumpke's palsy?
What muscles are affected in Klumpke's palsy?
intrinsic hand muscles +/- finger and wrist flexors and possible Horners syndrom
Why can you get Horner's syndrome with Klumpke's palsy?
disruption of the first sympathitic ganglion from T1
Why ar ethe finger typically flexed with Klumpke's palsy?
due to paralysis of the interossei and lubricals which assist extension at the PIPJ
At what age should a child be sitting alone,crawling?
What age should a child stand?
What age should a child be walking?
What age should a child be able to jump?
what age should a child be able to manage stairs independently?
By what age should a child have head control?
What age should a child be speaking a few words?
What is the alignment of the legs of children at birth?
What is the alignment of children at age 3?
What is the normal alignment of the legs by 7-9 (wich continues into adulthood)?
6 degrees of valgus
What is considered to be pathological varus and valgus
+/- 6 degreees from mean value for the age
What is Blount's disease?
a growth disorder of the medial proximal tibial physis that causes marked and persisting varus deformity
What are other causes of varus?
rickets; tumour; traumatic physeal injury and skeletal dysplasi
What are persistent bow legs at risk of?
early onset medial compartment OA
What are the causes of genu valgum?
rickets; tumours; trauma and neurofibromatosis
How can genu valgum and varum be fixed surgically?
osteotomy or growth plate manipulation surgery
What is in-toeing?
when feet point towards the midline when walking or standing
What are causes of in0toeing?
femoral neck anteversion; internal tibial torsion; forefoot adduction
What test can determine if flat feet are flexible?
Jack test- when the medial arch orms with dorsiflecion of the great toe
What may cause flexible flat footedness?
ligamentous laxity; idiopathic or familial
What does rigid flat footedness indicate?
there ris underlying bony abnormality
What bony abnormality can cause rigid flat footedness?
What is tarsal coalition?
where the bones of the hindfoot have an abnormal bony or cartilaginous connection
What is DDH?
dislocation or subluxation of the femoral head during hte perinatal period which affects the subsequent development of the hip joint
What are the risk factors for DDH?
positive family histroy of DDH; breech presentation; first born babies; Down's syndrome and presence of other congenital disorders
What are the clinical signs of DDH?
shortening, asymmetric groin/thigh skin creases and click or clunk on the Ortolani or Barlow manoeuvries
What is the investigation done for DDH?
Why can xrays not be used for early diagnosis of DDH?
the femoral head epiphysis is unossified until around 4-6 months
What harness is used to treat DDH?
What is the purpose of the Pavlik harness?
keeps the hips in comfortable flexion and abduction and mainting reduction and reducing the chance of AVN
What are the consequences of a late diagnosis at 18 months?
open redduction is much more likely and the acetabluum is likely to eb very shallow- has much poorer prognosis
What is transient synovitis?
self-limiting inflammation of the synovium of a joint, most commonly the hip
What commonly precedes transient synovitis?
an upper respiratory tract infection- usually viral
What is the presentation of transient synovitis?
limp or reluctance to weight bear on the affected side, range of motion may be restricted- not as much pain or loss of motion as septic arthritis, low grade fever but is not systemically unwell or septic
What is the management for transiet synovitis?
short course of NSAIDs and rest- usually resolves within a few weeks
What is Perthes?
idiopathic osteochondritis of the gemoral head
Who gets Perthes?
active kids between 4 and 9 and boy 5:1
What is the pathophysiology of Perhtes?
the femoral head tranisently loses its blood supply resulting innecrosis with subsequent abnormal growth, the femoral head may collapse of tracture and subsequent remodelling occurs
What is the prognosis of perthes?
an incongruent joint will lead to early onset arthritis and may require hip replacement in adolescent or early adulthood
What is the main determinant in prognosis?
age of onset- older children fare worse- changes the shape of femoral head and congruence of hte joint and the amoutn of collapse
What may be underlying bilateral Perthes?
skeletal dysplasia or thrombophilia
What are the clinical signs of Perhtes?
pina and a limp; los of internal rotation follwed by loss of abduction and a positive trendelenberg
What is the treatment for Perthes?
xray observation and avoidance of physical activity
Who gets SUFE?
overweight pre-pubescent adolescent boys
What may predispose to SUFE?
hypothyroidsim or renal disease
What causes SUFE?
the physis is not strong enough to support body weight ad the femoral epiphysis slips due to the strain- slips inferiorly in realtion to the femoral neck
What are the clinical signs of SUFE?
pain and a limp; pain may be flet in the groin or knee. loss of iternal rotation of the hip
What is the treatment for SUFE?
urgent surgery to pin the femoral head to prevent further slippage; some may require hip replacement in adolscene of early adulthood; osteotomy
Why do you need to be careful when attempting gentle manipulation?
What is jumpers knee?
What is apophysitis?
inflammation of a growing tubercle where a tendon attaches
What is Osgood-Schlatter's disease?
inflammation of the tibial tubercle apophysis
What is Sinding-Larden-Johansson disease?
inflammation of hte inferior pole of hte patella
What may cause anterior adolescent knee pain?
muscle imbalance; ligamentous laxity and subtle skeletal predisposition (genu valgum, wide hips, femoral neck anteversion); softening of the hyaline cartilage of the patella
What is chondromalacia patellae?
softening of the hyaline cartilage of the patella
What is osteochondritis dissecans?
an osteochondritis where a fragment of hyaline cartilage with varaible amount of bone fragments breaks off the surface of hte joint
What is the presentation of osteochondritis dissecans?
poorly localised pain, effusion and locking
What shape is an abnormally shaped discoid meniscus?
circular rather than C-shaped
What symptoms does an abdnoramlly shaped discoid meniscus cause?
can be a source of pain and a "popping" sensation
What causes talipes equinovarus?
abnormal alignment of the joints between the talus, calcaneus and navicular hwhich results in contracrues of the soft tissues resulting in deformity
What is ankle equinus?
What are the deformities in talipes equinovarus?
plantarflexion; supination fo the forefoot and varus alignment of the forefoot
What are hte risk factors for talipes equinovarus?
low amniotic fluid content; breech presentaion; familt histroy; boys 2:1
What are the treatments for talipes equinovarus?
early splintage and surgery for those resistant to splinatge or with late diagnosis
What is the splintage technique for clubfoot?
What tenotomy do 80% of children with clubfoot require to maintain full correction?
of the Achilles tendon
Is idiopathic scoliosis more common in males or females?
What is the surgery for scoliosis?
vertebral fusions and long rods connectin the posterior elements of hte spine
What is spondylolisthesis?
slippage of one vertebra over another- often happens after spondylolysis
What is the presentation of spondylolisthesis?
low back apin; radiculopathy- if slippage is severe; "flat back" due to muscles spasm and a characteristic waddling gait
What have been implicated in the causes of spondylolisthesis?
increased body weight and increased sporting activity in adolescents
What is spondylolysis?
defect or stress fracture in the pars articularis of the vertebral arch