Congenital and neuromuscular conditions Flashcards
What is the aetiology of Osteogenesis imperfecta - Brittle Bone Disease? Other than bone deformities, what sign may be present?
Defect in the synthesis or organisation of Type I collagen
Blue sclera
What is the embryological source of all the connective tissue?
mesoderm
What is the mutation present in Marfan’s syndrome?
Fibrillin gene mutation
What are the features of patients with Marfan’s?
Very tall long fingers hypermobile joints Pectus excavatum (flat chest) Aortic aneurism Cardiac valve incompetence Spontaneous pneumothroax
Ehlers-Danlos syndrome is caused by what?
defects of genes for collagen and elastin formation
What are the features of the Ehlers-Danlos syndrome?
joint hypermobility and dislocation
flexible skin
osteoarthritis
cardiac abnormalities
Duchenne Muscular Dystrophy affects females only (T/F)
Males only
-X-linked recessive
What is the gene affected in Duchenne muscular dystrophy?
dystrophin calcium transport gene
What are the clinical characteristics of Duchenne muscular dystrophy?
progressive muscle weakness, with age
progressive scoliosis
Gowers sign on rising (stands up from all fours pushing himself up with hands)
What bones are abnormally aligned in Talipes Equinovarus? What are the patients at higher risk of?
Clubfoot
talus, calcaneous and navicular
DDH (developmental displasia of hip)
What is the treatment for Talipes Equinovarus (clubfoot)?
(Ponseti method
- Manipulation and casting
- alter foot position and set with progressively different casts
What is the cause of cerebral palsy?
damage to brain before 3 years of age
What are the 4 types of cerebral palsy?
spastic (motor cortex)
athetoid (uncontrolled writhing)
dystonic (repetitive movements)
ataxic (cerebellum)
What is spina bifida? What can be a sign noticed on examination?
failure of fusion of posterior vertebral arch
a hairy path or fatty lump on the back
What symptoms can be caused by spina bifida?
loss of bowel and bladder control
high arched foot
clawing of toes
What is spina bifida Myelomeningocele?
Spinalc cord contents herniates into a skin pouch
What is the site affected by Polio?
Viral infection of anterior horn cells in spinal cord or brainstem
What is the most common expression of Cerebral palsy? What’s the clinical picture?
Spastic CP
-weakness and spasticity worsening with age
Ataxic cerebral palsy reduces _____ and ______
co-ordination and balance
Athetoid cerebral palsy is characterised by…
uncontrolled writhing motion, difficulties controlling speech
What drugs are used in treatment of cerebral palsy?
Baclofen (reduces spasticity)
Botox (inject into spastic muscles)
What are the 3 types of spina bifida (mild to severe)?
Spina bifida occulta
Spina bifida Meningocele (herniation of meninges alone)
Spina bifida Myelomeningocele (spinal cord / cauda equina herniation)
What is fibular hemimelia?
partial or complete absence of the fibula
What is a common mechanism of Brachial Plexus Palsy development?
Compression of the shoulder on the pubiic symphysis during vaginal delivery
What nerve roots are damaged in Erb’s brachial plexus palsy? What muscles are affected?
C5 and C6
Supraspinatus Infraspintaus Deltoid Biceps brachii Brachialis
What is the classic presentation of Erb’s palsy?
‘waiter’s tip posture’
- internal rotation of the humerus
- action of subscapularis is unopposed
What brachial plexus roots are damaged in Klumpke’s palsy? What is the classic upper limb position?
C8 and T1
Flexed arm at the elbow
Wrist dorsiflexed
The mechanism of injury leading to Klumpke’s palsy is damage to the brachial plexus caused by forceful abduction of the arm (T/F)
False
Forceful adduction
Developmental milestones. Sits alone - Stands - Walks - Jumps - Climbs stairs -
Sits alone - 6-9 months Stands - 8-12 months Walks -14-17 months Jumps - 24 months Climbs stairs - age 3
Varus knees at birth are abnormal and require correction (T/F)
False
normal
Blounts’s disease is a disroder in growth at the medial proximal tibial physis, resulting in ____ _____
genu varum
How can rigid flat feet be confirmed? What does it indicate?
Stand on toes - flexible flat feet produce a medial arch
Tarsal coalition
Ortolani and Barlow manoeuvres are both used for detection of DDH (developmental displasia). What are they?
Ortolani manoeuvre
- reduces a dislocated hip
- abduct and anteriorly displace thigh
Barlow manoeuvre
- attempt to dislocate
- flex and posteriorly displace hip
What treatment is used for dislocated or persistently unstable hips in newborns?
Pavlik harness
-flexes and abducts hips, ensuring reduction
In Perthes, the femoral head transiently loses its blood supply (T/F)
True
-necrosis and abnormal growth may follow
What’s a typical presentation of Perthes?
V. active boys, 4-9 years old, with hip pain and a limp
-loss of internal rotation may be the first clinical sign
What is SUFE? Whom does it normally affect?
slipped upper femoral epiphysis
Overweight adolescent boys
Other than groin pain, where else can pain present in SUFE?
What is the main clinical sign?
knee
-in some cases it’s only knee pain
Loss of internal rotation
What is the treatment of SUFE?
pinning of the femoral head to prevent further slippage
-may need to be performed bilaterally
What is the cause of Talipes Equinovarus? How does it present?
-unequal alignment of joints between the calcaneous, talus and navicular.
Clubfoot
Other than the Ponseti technique (serial casting of the foot), what other procedure may be required in the treatment of Talipes Equinovarus (clubfoot)?
Tenotomy of the Achilles tendon
-boots attached with a bar worn during sleep until age 3/4
