Clinical 5 (long case bits and bobs)

Question 1

Cystic Fibrosis plan:

Answer 1

Team approach - including GP

Hope - life expectancy steadily improving, novel therapies (lumacaftor/ivacaftor or tezacaftor/ivacaftor for delf508, ivacaftor alone for other mutations)
Educational status - need information from reliable sources

Compliance/prevent and screen for Complications: diabetes, reflex, Cor pulmonale, pneumothorax, bronchiectasis, asthma, intestinal obstruction, arthritis, osteoporosis, jaundice, nasal polyps and sinusitis
Family and sibling
Emotional status

Prognosis (life limiting disorder)
Long term infections and resistance
Asospermia with delayed puberty (males infertile)
Nutrition - often have growth failure and vit def (DEKA)

Question 2

Adolescent vegan diet risk of deficiency in…

Answer 2

B12

Question 3

Anorexia part of brain affected

Answer 3

Insula

Question 4

GMFCS

Answer 4

1: mobilise no limits (stairs)
2: mobilise limits (stairs with rail)
3: sit and mobilise with device
4: sit need wheelchair (power chair)
5: severe, no independent mobility (truncal instability)

Question 5

Drugs that have weight loss side effects:

Answer 5

Stimulants (methylphenidate, dexamphetamine)
SSRI
Topiramate

Question 6

Tic disorder treatment:

Answer 6

Clonidine

Risperidone

Question 7

Strongest predictors of outcome in autism

Answer 7

Language level and IQ

Question 8

Examine for complications of inflammatory bowel disease:

Answer 8

Ocular changes/signs of anaemia
Clubbing
Liver disease e.g cirrhosis/sclerosing cholangitis
Gallstones and renal stones
Arthritis
Skin manifestations

Complications of treatment: mega colon, bleed or perforation, cancer, scarring from operation

Question 9

Kearns-Sayre syndrome:

Answer 9

Kearns-Sayre syndrome: onset<20 years
Chronic, progressive, external ophthalmoplegia, Pigmentary degeneration of the retina
Cardiac problems

Question 10

Think of atlantoaxial subluxation if:

Answer 10

Down syndrome (20%)
Morquio syndrome (lysosomal storage disorder)
Spondyloepiphyseal dysplasia
Osteogenesis imperfecta
Marfan disease
Neurofibromatosis type 1 (NF1)
Arthritis - RA/JIA, psoriatic, reiter syndrome (reactive arthritis), ank spond
Systemic lupus erythematosus (SLE)
Trauma
Retropharyngeal abscess / Grisel syndrome
Achondroplasia

Question 11

CF complications:

Answer 11

Psychological
Nasal polyps
Respiratory infections and bronchiectasis
Pancreatic failure and diabetes
Bowel obstruction
Liver (focal biliary)
Reproductive fertility issues
Pubertal delay
Bone health (osteoporosis)
Electrolyte imbalance

Question 12

L lateral chest wall scar

Answer 12

Coarctation repair
PDA ligation
BT shunt
PA banding
Thoracotomy

Question 13

Complications of Noonan:

Answer 13

Eightfold increased risk of developing leukemia or other cancers over age-matched peers.
Bleeding tendency
Pubertal delay
Short
AD

Question 14

Spina bifida associations:

Answer 14

Hydrocephalus or Arnold-Chiari II malformations (90%)