Paeds 7A

Question 1

Define infantile colic.

Answer 1

> 3 hours total crying, for > 3 days in any week or > 3 weeks

Question 2

What are some key factors that distinguish Noonan syndrome from Turner syndrome?

Answer 2

Noonan can affect males

Noonan is associated with mental retardation and pulmonary valve stenosis

Question 3

Describe the prognosis for patients with minimal change disease.

Answer 3

1/3 have only a single episode
1/3 have occasional relapses
1/3 have frequent relapses stopping at adulthood

Question 4

Define global developmental delay.

Answer 4

Significant delay in 2 or more developmental domains

Question 5

Which investigations should be requested in suspected global developmental delay?

Answer 5

Chromosomal analysis (Down, Di George, Williams)
Fragile X testing 
Creatine kinase 
U&E 
Lead level 
Urate 
Full blood count 
Ferritin 
TFTs
Biotinidase level

Question 6

Which investigation is important to perform in any child who has had a non-febrile seizure?

Answer 6

ECG

Question 7

List some causes of surfactant deficiency in newborns.

Answer 7

Prematurity male 
Sepsis 
Maternal diabetes 
Second twin 
Elective C-section

Question 8

List some causes of speech delay.

Answer 8

Hearing impairment 
Expressive language disorder 
Late bloomer 
Cerebral palsy 
Autism spectrum disorder

Question 9

List some potential first-line investigations for suspected inherited disorders of metabolism.

Answer 9

Amino acids and acylcarcinitine profile 
Ammonia
Lactate 
Organic acids 
Very long chain fatty acids

Question 10

Which diseases are tested for in the Guthrie test?

Answer 10

Sickle cell anaemia 
Cystic fibrosis
Congenital hypothyroidism
MCAD deficiency 
PKU 
Maple syrup urine disease 
Isovaleric acidaemia 
Homocystinuria
Glutaric aciduria type I

Question 11

Which acid-base features would raise suspicion of an inborn error of metabolism?

Answer 11

Acidosis out of keeping with clinical picture
Abnormalities persist despite standard treatment
Raised anion gap

Question 12

Outline the pathophysiology of lysosomal storage disorders and describe the clinical manifestations.

Answer 12

The lysosome is the recycling centre of the cell
Deficiency of enzymes within the lysosome leads to the accumulation of toxic proteins resulting in hepatosplenomegaly and CNS involvement

This can manifest with developmental regress and seizures

Examples: mucopolysaccharidoses, oligosaccharidoses, mucolipidoses, sphingolypidoses (Fabry disease)

Question 13

What are mucopolysaccharidoses?

Answer 13

Most common of the lysosomal storage disorders
Characterised by defective breakdown of glycosaminoglycans
Causes developmental regression, skeletal abnormalities, coarse facies, cardiomyopathy

Question 14

Briefly outline the pathophysiology of lipid storage disorders.

Answer 14

Enzyme deficiency leads to lipid accumulation in cells and tissues
Excessive fat storage leads to permanent cellular and tissue damage

NOTE: Gaucher disease is the most common

Question 15

What blood glucose level defines hypoglycaemia?

Answer 15

< 2.6 mmol/L

Question 16

What is the inheritance pattern of congenital adrenal hyperplasia?

Answer 16

Autosomal recessive

NOTE: 21a-hydroxylase deficiency is most common

Question 17

Describe the presenting features of an adrenal salt losing crisis.

Answer 17

Vomiting
Weight loss
Hypotonia
Circulatory collapse

Question 18

List some causes of global developmental disorders.

Answer 18

Chromosomal (e.g. Down, fragile X)
Congenital hypothyroidism
Inborn errors of metabolism (e.g. PKU)
Congenital infection (e.g. rubella, CMV) 
Hypoxic brain injury 
Kernicterus
Meningitis

Question 19

List some causes of abnormal motor development.

Answer 19

Central motor deficit (e.g. cerebral palsy)
Congenital myopathy (e.g. DMD)
Neural tube defect 
Global developmental delay

Question 20

Which children are most vulneralbe to periventricular leukomalacia?

Answer 20

Preterm babies

NOTE: periventricular leukomalacia is particularly associated with diplegic cerebral palsy

Question 21

Describe the main features of dyskinetic cerebral palsy.

Answer 21

Characterised by the presence of involuntary, uncontrolled movements that are more obvious on active movement or stress
May feature chorea, athetosis or dystonia
Usually due to damage to the basal ganglia

Question 22

Describe the main features of ataxic (hypotonic) cerebral palsy.

Answer 22

Most are genetically determined
Characterised by trunk and limb hypotonia, poor balance and delayed motor development
Later features include intention tremor and ataxic gait

Question 23

List some tests that may be used to assess language development.

Answer 23

Symbolic toy test (e.g. Kendall or McCormick)

Reynell test

Question 24

What are the three main features of autism spectrum disorders?

Answer 24

Impaired social interaction
Speech and language disorder
Imposition of routines and ritualistic and repetitive behaviours

Question 25

Name some formalised tests that may be used to diagnose autism.

Answer 25

Autism diagnostic interview (ADI)

Autism diagnostic observation schedule (ADOS)