Paeds definitions

Question 1

Growth

a) FTT
b) Macrosomia
c) Low birth weight
d) Short stature. Must consider what normal cause?
e) 4 categories of causes of short stature
f) SGA
g) IUGR and the two types
h) CDGP

If in doubt - constitutional, chronic disease, genetic syndromes, etc.

Answer 1

a) Failure of normal growth. Usually below 3rd centile or dropping two major percentile lines on growth chart
b) > 4kg
c) < 2.5kg
d) Below 3rd centile (> 2SDs below mean) height for age and sex; Constitutional - look at mum and dad
e) Reduced intake, reduced absorption, increased requirement, appetite dysregulation
f) Below 10th centile for birth weight (severe SGA: below 3rd centile) - most are constitutionally small
g) Ceasing/slowing of growth in utero - features of malnutrition at birth. May not be SGA (but likely are).
Symmetrical - proportionately small, caused in early pregnancy, poor prognosis
Asymmetrical - larger head and femur length, more marked malnutrition signs, later pregnancy cause, better prognosis
h) CDGP - constitutional delays in growth and puberty

Question 2

TORCH infection

Answer 2

Toxoplasmosis, Other (HIV), Rubella, Cytomegalovirus, Herpes Simplex Virus
Risk of IUGR and foetal malformations

Question 3

Heel prick test

a) Conditions screened for (3 main, 4 wacky)

Answer 3

CF, CH, SCD; PKU,

MCADD, MSUD, GA1, IVA, HCU

Question 4

Increased WOB signs

Answer 4

Tachypnoea, subcostal recession, intercostal recession, nasal flaring, head bobbing, tracheal tug, cyanosis, grunting in babies, accessory muscle use

Question 5

Imprinting

• Give 2 conditions that arise due to this phenomena
• Give 3 features of each

Answer 5

The turning off of either the maternal or paternal alleles, due to DNA methylation.

• Angelman: (loss of maternal allele) happy demeanour, seizures, ataxia, hypermotoric behaviour, learning disabilities, global developmental delay, affinity for water
• Prader-Willi syndrome: (loss of Paternal allele) hyperphagia and obesity, hypotonia (poor sucking), learning disabilities, global developmental delay,

Prader = paternal

Question 6

Volvulus

Midgut malrotation

Answer 6

Volvulus = complete twisting of a loop of intestine around its mesenteric attachment site

Midgut malrotation = twisting of the entire midgut about the axis of the superior mesenteric artery (SMA)