Congenital and neuromuscular conditions

Question 1

What is the aetiology of Osteogenesis imperfecta - Brittle Bone Disease? Other than bone deformities, what sign may be present?

Answer 1

Defect in the synthesis or organisation of Type I collagen

Blue sclera

Question 2

What is the embryological source of all the connective tissue?

Answer 2

mesoderm

Question 3

What is the mutation present in Marfan’s syndrome?

Answer 3

Fibrillin gene mutation

Question 4

What are the features of patients with Marfan’s?

Answer 4

Very tall
long fingers
hypermobile joints
Pectus excavatum (flat chest)
Aortic aneurism
Cardiac valve incompetence
Spontaneous pneumothroax

Question 5

Ehlers-Danlos syndrome is caused by what?

Answer 5

defects of genes for collagen and elastin formation

Question 6

What are the features of the Ehlers-Danlos syndrome?

Answer 6

joint hypermobility and dislocation
flexible skin
osteoarthritis
cardiac abnormalities

Question 7

Duchenne Muscular Dystrophy affects females only (T/F)

Answer 7

Males only

-X-linked recessive

Question 8

What is the gene affected in Duchenne muscular dystrophy?

Answer 8

dystrophin calcium transport gene

Question 9

What are the clinical characteristics of Duchenne muscular dystrophy?

Answer 9

progressive muscle weakness, with age
progressive scoliosis
Gowers sign on rising (stands up from all fours pushing himself up with hands)

Question 10

What bones are abnormally aligned in Talipes Equinovarus? What are the patients at higher risk of?

Answer 10

Clubfoot
talus, calcaneous and navicular

DDH (developmental displasia of hip)

Question 11

What is the treatment for Talipes Equinovarus (clubfoot)?

Answer 11

(Ponseti method

• Manipulation and casting
• alter foot position and set with progressively different casts

Question 12

What is the cause of cerebral palsy?

Answer 12

damage to brain before 3 years of age

Question 13

What are the 4 types of cerebral palsy?

Answer 13

spastic (motor cortex)
athetoid (uncontrolled writhing)
dystonic (repetitive movements)
ataxic (cerebellum)

Question 14

What is spina bifida? What can be a sign noticed on examination?

Answer 14

failure of fusion of posterior vertebral arch

a hairy path or fatty lump on the back

Question 15

What symptoms can be caused by spina bifida?

Answer 15

loss of bowel and bladder control
high arched foot
clawing of toes

Question 16

What is spina bifida Myelomeningocele?

Answer 16

Spinalc cord contents herniates into a skin pouch

Question 17

What is the site affected by Polio?

Answer 17

Viral infection of anterior horn cells in spinal cord or brainstem

Question 18

What is the most common expression of Cerebral palsy? What’s the clinical picture?

Answer 18

Spastic CP

-weakness and spasticity worsening with age

Question 19

Ataxic cerebral palsy reduces _____ and ______

Answer 19

co-ordination and balance

Question 20

Athetoid cerebral palsy is characterised by…

Answer 20

uncontrolled writhing motion, difficulties controlling speech

Question 21

What drugs are used in treatment of cerebral palsy?

Answer 21

Baclofen (reduces spasticity)

Botox (inject into spastic muscles)

Question 22

What are the 3 types of spina bifida (mild to severe)?

Answer 22

Spina bifida occulta

Spina bifida Meningocele (herniation of meninges alone)

Spina bifida Myelomeningocele (spinal cord / cauda equina herniation)

Question 23

What is fibular hemimelia?

Answer 23

partial or complete absence of the fibula

Question 24

What is a common mechanism of Brachial Plexus Palsy development?

Answer 24

Compression of the shoulder on the pubiic symphysis during vaginal delivery

Question 25

What nerve roots are damaged in Erb's brachial plexus palsy? What muscles are affected?

Answer 25

C5 and C6 ``` Supraspinatus Infraspintaus Deltoid Biceps brachii Brachialis ```

Question 26

What is the classic presentation of Erb's palsy?

Answer 26

'waiter's tip posture' - internal rotation of the humerus - action of subscapularis is unopposed

Question 27

What brachial plexus roots are damaged in Klumpke's palsy? What is the classic upper limb position?

Answer 27

C8 and T1 Flexed arm at the elbow Wrist dorsiflexed

Question 28

The mechanism of injury leading to Klumpke's palsy is damage to the brachial plexus caused by forceful abduction of the arm (T/F)

Answer 28

False Forceful adduction

Question 29

``` Developmental milestones. Sits alone - Stands - Walks - Jumps - Climbs stairs - ```

Answer 29

``` Sits alone - 6-9 months Stands - 8-12 months Walks -14-17 months Jumps - 24 months Climbs stairs - age 3 ```

Question 30

Varus knees at birth are abnormal and require correction (T/F)

Answer 30

False | normal

Question 31

Blounts's disease is a disroder in growth at the medial proximal tibial physis, resulting in ____ _____

Answer 31

genu varum

Question 32

How can rigid flat feet be confirmed? What does it indicate?

Answer 32

Stand on toes - flexible flat feet produce a medial arch Tarsal coalition

Question 33

Ortolani and Barlow manoeuvres are both used for detection of DDH (developmental displasia). What are they?

Answer 33

Ortolani manoeuvre - reduces a dislocated hip - abduct and anteriorly displace thigh Barlow manoeuvre - attempt to dislocate - flex and posteriorly displace hip

Question 34

What treatment is used for dislocated or persistently unstable hips in newborns?

Answer 34

Pavlik harness | -flexes and abducts hips, ensuring reduction

Question 35

In Perthes, the femoral head transiently loses its blood supply (T/F)

Answer 35

True | -necrosis and abnormal growth may follow

Question 36

What's a typical presentation of Perthes?

Answer 36

V. active boys, 4-9 years old, with hip pain and a limp -loss of internal rotation may be the first clinical sign

Question 37

What is SUFE? Whom does it normally affect?

Answer 37

slipped upper femoral epiphysis Overweight adolescent boys

Question 38

Other than groin pain, where else can pain present in SUFE? | What is the main clinical sign?

Answer 38

knee -in some cases it's only knee pain Loss of internal rotation

Question 39

What is the treatment of SUFE?

Answer 39

pinning of the femoral head to prevent further slippage | -may need to be performed bilaterally

Question 40

What is the cause of Talipes Equinovarus? How does it present?

Answer 40

-unequal alignment of joints between the calcaneous, talus and navicular. Clubfoot

Question 41

Other than the Ponseti technique (serial casting of the foot), what other procedure may be required in the treatment of Talipes Equinovarus (clubfoot)?

Answer 41

Tenotomy of the Achilles tendon -boots attached with a bar worn during sleep until age 3/4