Cystic Fibrosis and Cerebral Palsy

Question 0

Genetic background?

Answer 0

Mutations in CFTR protein gene, most commonly chromosome 7 delta F508

Question 1

Method of inheritance?

Answer 1

Autosomal recessive

Question 2

What is CFTR?

Answer 2

Cystic fibrosis transmembrane conductance regulator protein

A chloride channel protein with a knock on effect on sodium, glycoproteins etc.

Question 3

Common presentation?

Answer 3

Recurrent LRTIs + chronic sputum production

Question 4

Screening methods?

Answer 4

Guthrie card at day 5/6
Immunoreactive trypsinogen (IRT)
If IRT high then do CFTR screening

Question 5

Other childhood presentations?

Answer 5

Diarrhoea/steatorrhoea
FTT
Rectal prolapse
Nasal polyps
Acute pancreatitis
Liver damage
Electrolyte abnormalities, oedema

Question 6

Signs on exam?

Answer 6

Finger clubbing
Purulent sputum
Crackles
Upper lobe wheeze
FEV1 showing obstructive picture

Question 7

Older presentations or complications?

Answer 7

Male infertility (obstructive azoospermia)
Atypical asthma
Bronchiectasis

Question 8

Investigations/diagnosis?

Answer 8

Sweat testing 98% sensitive

Genetic CFTR mutation testing

Question 9

Sweat test criteria?

Answer 9

Chloride > 60mmol/L with Na lower than Cl on 2 separate occasions

Question 10

Respiratory infection with high mortality link?

Answer 10

Pseudomonas aeruginosa

Question 11

Investigating pancreatic insufficiency?

Answer 11

Fecal elastase

Question 12

Helping to maintain nutrition?

Answer 12

Vitamins ADE
Enteric coated enzyme preparations
130% normal caloric intake

Question 13

What is the general pathophysiology/cause of cerebral palsy?

Answer 13

Damage to the immature brain -> non-progressive deficit

Question 14

4 types of movement disorder in cerebral palsy?

Answer 14

Spastic
Athetoid
Ataxic
Mixed

Question 15

What is the characteristic movement in spastic cerebral palsy?

Answer 15

Intermittent hypertonia, hyperreflexia

Question 16

What characterises athetoid cerebral palsy?

Answer 16

Hyperkinesia (stormy)

Question 17

What are the TORCH infections?

Answer 17

Toxoplasmosis
Other
Rubella
CMV
HSV

Question 18

5 RFs for cerebral palsy?

Answer 18

Prematurity
Maternal age > 35
IUGR
Multiple pregnancy
Black ethnicity

Question 19

What is the scoring system used to determine baby wellbeing immediately after birth?

Answer 19

APGAR

Question 20

What are the two key abnormalities in cerebral palsy?

Answer 20

Movement and posture

Question 21

What other major chronic health condition coexists with cerebral palsy in around 1/3?

Answer 21

Epilepsy

Question 22

What nutritional, bladder and bowel problems can occur with cerebral palsy?

Answer 22

FTT/malnourishment
Bladder - incontinence, recurrent UTIs
Bowel - constipation

Question 23

Depending on the presentation, what are some differentials for cerebral palsy?

Answer 23

Acute poliomyelitis
BMD, CMT syndrome, SMA
Brachial plexus injury - shoulder dystocia
Stroke
Trauma

Question 24

What investigation in neonates can indicate neonatal asphyxia?

Answer 24

CSF analysis

Question 25

What two electricity-involving investigations are key in cerebral palsy?

Answer 25

Evoked potentials

EEG

Question 26

What are 2 medications that can be used to relieve muscle spasms in cerebral palsy? Which is for more severe?

Answer 26

Baclofen, diazepam

Dantrolene if severe

Question 27

When is surgery indicated in cerebral palsy?

Answer 27

Severe spasticity or fixed contractures, deformities
Repairing scoliosis, hip dislocations
Tendon lengthening or transfer
Osteotomy (limb realignment)

Question 28

What are 2 injections used in long-term spasticity relief for cerebral palsy?

Answer 28

Botox

Phenol (larger muscle groups)