Week 3 Paeds - Neuromuscular and Congenital MSK disorders Flashcards
what type of collagen is involved in osteogenesis imperfecta? what is wrong?
type 1 collegen - defect in maturization and organisation
4 year old jenna comes in with a low impact fracture. she is ginger, very short, with very blue eyes. she struggles to hear what you say. what do you think she has ?
osteogenesis imperfecta
two ways to inherit brittle bones…
most commonly - autosomal dominant
less commonly - auto recessive. this is way more severe = these children normally die within weeks, and have spinal deformities
what is the most likely way to inherit skeletal dysplasia?
sporadically - 8/10 cases have no FMH
Otherwise are auto dom though
steven can dislocate his shoulder easily, bruises like a peach and has scoliosis. what is abnormal?
steven’s production of elastin and collagen
he has ehlers danlos
grace has downs syndrome. what 2 sites may she get recurrent dislocations?
patella
C1 and 2 (atlano axial)
what type of CP is caused by damage to the motor cortex, upper motor neurons and the corticospinal tract?
spastic CP
what type of CP is caused by damaged basal ganglia, pyramidal tract and extra pyramidal motor system?
athetoid CP
what type of CP is caused by damage to the cerebellum?
Ataxic CP
what are the characteristics of Athetoid CP?
speech control problems
sudden changes in tone
uncontrolled writhing
what are the characteristics of ataxic CP?
problems with coordination and balance
what 3 medications may be injected to help spacticity in CP?
all start with b….
baclofen
botox
benzodiazepines
they act on neuron firing!!
what are 4 potential symptoms of spina bifida occulta?
a hair tuft / dimple
pes cavus and claw toes
neurological symptoms (may occur any time)
what is a “neural tube defect”
a birth defect affecting the brain, the spine and the spinal cord - spina bifida. failure to fuse the two halfs of the posterior vertebral arch
what is the brain effect of Spina bifida cystica?? how is it reversed?
high intracranial pressure caused by excess Cerebro Spinal Fluid (CSF). put in a SHUNT within few weeks of life
2 bones affected by Spinda bifida cystica?
spine (scoliosis) and hip problems
a myelomeningocele is the most severe potential aspect of spina bifida cystica — what is the effect?
severe herniation of the vertebral canal. Result is loss of motor + sensory neural control at all levels below the lesion. Disability varies on level, most are very severe
describe the typical presentation of polio
have the flu for a few days
suddenly one limb gets paralysed and weak
recovery - normally good but residual paralysis, joint deformities/ growth defects may —> shorter limb
can CP be idiopathic?
is it often caused by labour problems? (eg hypoxia)
yes, sometimes no cause is identified
only 10% of the cases due to labour
name 5 causes of CP if you can :L
Genetic problems, brain malformation, intrauterine infection in early pregnancy, prematurity, intra‐cranial haemorrhage, hypoxia during birth and meningitis
treatment of skeletal dysplasia…
2 orthopaedic actions -
1 potential therapy –
scoliosis correction
limb lengthening
growth hormone therapy
Thomas has a round plantar surface on the bottom of his feet. His talus dislocates onto the navicular bone, and this cant be reversed. what does he have?
rocker bottom foot
Susie has 6 brown spots on her skin, freckles in her armpit, scoliosis, and eye lesion and cortical thinning of her bones … what does she have?
Neurofibromatosis type 1
she probably has at least 2 blobby lesions
10% have scoliosis
what is the “clasp knife” resistance?
in CP spasticity — limbs can resist..resist.. resist.. then give way.
pathogenesis of duchennes ?
muscle is replaced by fatty tissue!!
x linked dystrophin defect
how do you diagnose muscular dystrophy? (2)
muscle biopsy
raised CK !!
is marfans auto recessive, auto dom, x linked or sporadic?
sporadic or auto dominant !!
what problem in the brain can occur in spina bifida cystica?
Hydrocephalus - excess CSF raising the intrcranial pressure
describe shunting of excess CSF fluid for hydrocephalus
shunting device takes fluid from the brain ventricles –> right atrium / peritoneal cavity
4 other defects in spina befinda spine hip muscle feet skin
spinal deformity hip dislocation muscle contractures foot deformities pressure sores / foot ulcers
what causes polio? (what does it target?)
Polio virus (poliomyelitis) affects motor anterior horn cells in the spinal cord / brainstem
what kind of deficit does polio cause?
lower motor neurone
is sensation present in polio neuron attack?
yes
weakness and hyporeflexia are caused by which type of neuromuscular disorder?
LOWER motor neuron
what is classified as LOWER motor neuron?
anterior horn cells, nerve roots, peripheral nerves
spasticity and hyperreflexia is caused by which type of neuromuscular disorder?
UPPER motor neuron
what is injured in Erb’s palsy?
C5 and C6
treatment of erbs palsy?
- physio (good outcomes)
2. surgical release / tendon transfers if needed
