Paeds 7 Flashcards
Define infantile colic.
> 3 hours total crying, for > 3 days in any week or > 3 weeks
What are some key factors that distinguish Noonan syndrome from Turner syndrome?
Noonan can affect males
Noonan is associated with mental retardation and pulmonary valve stenosis
Describe the prognosis for patients with minimal change disease.
1/3 have only a single episode
1/3 have occasional relapses
1/3 have frequent relapses stopping at adulthood
Define global developmental delay.
Significant delay in 2 or more developmental domains
Which investigations should be requested in suspected global developmental delay?
Chromosomal analysis (Down, Di George, Williams) Fragile X testing Creatine kinase U&E Lead level Urate Full blood count Ferritin TFTs Biotinidase level
Which investigation is important to perform in any child who has had a non-febrile seizure?
ECG
List some causes of surfactant deficiency in newborns.
Prematurity male Sepsis Maternal diabetes Second twin Elective C-section
List some causes of speech delay.
Hearing impairment Expressive language disorder Late bloomer Cerebral palsy Autism spectrum disorder
List some potential first-line investigations for suspected inherited disorders of metabolism.
Amino acids and acylcarcinitine profile Ammonia Lactate Organic acids Very long chain fatty acids
Which diseases are tested for in the Guthrie test?
Sickle cell anaemia Cystic fibrosis Congenital hypothyroidism MCAD deficiency PKU Maple syrup urine disease Isovaleric acidaemia Homocystinuria Glutaric aciduria type I
Which acid-base features would raise suspicion of an inborn error of metabolism?
Acidosis out of keeping with clinical picture
Abnormalities persist despite standard treatment
Raised anion gap
Outline the pathophysiology of lysosomal storage disorders and describe the clinical manifestations.
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)
What are mucopolysaccharidoses?
Most common of the lysosomal storage disorders
Characterised by defective breakdown of glycosaminoglycans
Causes developmental regression, skeletal abnormalities, coarse facies, cardiomyopathy
Briefly outline the pathophysiology of lipid storage disorders.
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
What blood glucose level defines hypoglycaemia?
< 2.6 mmol/L
What is the inheritance pattern of congenital adrenal hyperplasia?
Autosomal recessive
NOTE: 21a-hydroxylase deficiency is most common
Describe the presenting features of an adrenal salt losing crisis.
Vomiting
Weight loss
Hypotonia
Circulatory collapse
List some causes of global developmental disorders.
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
List some causes of abnormal motor development.
Central motor deficit (e.g. cerebral palsy) Congenital myopathy (e.g. DMD) Neural tube defect Global developmental delay
Which children are most vulneralbe to periventricular leukomalacia?
Preterm babies
NOTE: periventricular leukomalacia is particularly associated with diplegic cerebral palsy
