Week 3 Paeds - Neuromuscular and Congenital MSK disorders

Question 1

what type of collagen is involved in osteogenesis imperfecta? what is wrong?

Answer 1

type 1 collegen - defect in maturization and organisation

Question 2

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 ?

Answer 2

osteogenesis imperfecta

Question 3

two ways to inherit brittle bones…

Answer 3

most commonly - autosomal dominant
less commonly - auto recessive. this is way more severe = these children normally die within weeks, and have spinal deformities

Question 4

what is the most likely way to inherit skeletal dysplasia?

Answer 4

sporadically - 8/10 cases have no FMH

Otherwise are auto dom though

Question 5

steven can dislocate his shoulder easily, bruises like a peach and has scoliosis. what is abnormal?

Answer 5

steven’s production of elastin and collagen

he has ehlers danlos

Question 6

grace has downs syndrome. what 2 sites may she get recurrent dislocations?

Answer 6

patella

C1 and 2 (atlano axial)

Question 7

what type of CP is caused by damage to the motor cortex, upper motor neurons and the corticospinal tract?

Answer 7

spastic CP

Question 8

what type of CP is caused by damaged basal ganglia, pyramidal tract and extra pyramidal motor system?

Answer 8

athetoid CP

Question 9

what type of CP is caused by damage to the cerebellum?

Answer 9

Ataxic CP

Question 10

what are the characteristics of Athetoid CP?

Answer 10

speech control problems
sudden changes in tone
uncontrolled writhing

Question 11

what are the characteristics of ataxic CP?

Answer 11

problems with coordination and balance

Question 12

what 3 medications may be injected to help spacticity in CP?

all start with b….

Answer 12

baclofen
botox
benzodiazepines
they act on neuron firing!!

Question 13

what are 4 potential symptoms of spina bifida occulta?

Answer 13

a hair tuft / dimple
pes cavus and claw toes
neurological symptoms (may occur any time)

Question 14

what is a “neural tube defect”

Answer 14

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

Question 15

what is the brain effect of Spina bifida cystica?? how is it reversed?

Answer 15

high intracranial pressure caused by excess Cerebro Spinal Fluid (CSF). put in a SHUNT within few weeks of life

Question 16

2 bones affected by Spinda bifida cystica?

Answer 16

spine (scoliosis) and hip problems

Question 17

a myelomeningocele is the most severe potential aspect of spina bifida cystica — what is the effect?

Answer 17

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

Question 18

describe the typical presentation of polio

Answer 18

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

Question 19

can CP be idiopathic?

is it often caused by labour problems? (eg hypoxia)

Answer 19

yes, sometimes no cause is identified

only 10% of the cases due to labour

Question 20

name 5 causes of CP if you can :L

Answer 20

Genetic problems, brain malformation, intrauterine infection in early pregnancy, prematurity, intra‐cranial haemorrhage, hypoxia during birth and meningitis

Question 21

treatment of skeletal dysplasia…
2 orthopaedic actions -
1 potential therapy –

Answer 21

scoliosis correction
limb lengthening
growth hormone therapy

Question 22

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?

Answer 22

rocker bottom foot

Question 23

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?

Answer 23

Neurofibromatosis type 1
she probably has at least 2 blobby lesions
10% have scoliosis

Question 24

what is the “clasp knife” resistance?

Answer 24

in CP spasticity — limbs can resist..resist.. resist.. then give way.

Question 25

pathogenesis of duchennes ?

Answer 25

muscle is replaced by fatty tissue!! | x linked dystrophin defect

Question 26

how do you diagnose muscular dystrophy? (2)

Answer 26

muscle biopsy | raised CK !!

Question 27

is marfans auto recessive, auto dom, x linked or sporadic?

Answer 27

sporadic or auto dominant !!

Question 28

what problem in the brain can occur in spina bifida cystica?

Answer 28

Hydrocephalus - excess CSF raising the intrcranial pressure

Question 29

describe shunting of excess CSF fluid for hydrocephalus

Answer 29

shunting device takes fluid from the brain ventricles --> right atrium / peritoneal cavity

Question 30

``` 4 other defects in spina befinda spine hip muscle feet skin ```

Answer 30

``` spinal deformity hip dislocation muscle contractures foot deformities pressure sores / foot ulcers ```

Question 31

what causes polio? (what does it target?)

Answer 31

Polio virus (poliomyelitis) affects motor anterior horn cells in the spinal cord / brainstem

Question 32

what kind of deficit does polio cause?

Answer 32

lower motor neurone

Question 33

is sensation present in polio neuron attack?

Answer 33

yes

Question 34

weakness and hyporeflexia are caused by which type of neuromuscular disorder?

Answer 34

LOWER motor neuron

Question 35

what is classified as LOWER motor neuron?

Answer 35

anterior horn cells, nerve roots, peripheral nerves

Question 36

spasticity and hyperreflexia is caused by which type of neuromuscular disorder?

Answer 36

UPPER motor neuron

Question 37

what is injured in Erb's palsy?

Answer 37

C5 and C6

Question 38

treatment of erbs palsy?

Answer 38

1. physio (good outcomes) | 2. surgical release / tendon transfers if needed