Paeds Passmed Flashcards
(316 cards)
What is the treatment for threadworm?
Single dose mebendazole for whole family (>6 months)
How do you check pulse on infants vs children?
Infants: Brachial + femoral
Children: Femoral
What valvular abnormalities are present in turners syndrome? And how do they present?
- Bicuspid aortic valve (ejection systolic upper right sternal border which radiates to the carotids
- Coarctation of the aorta (Systolic murmur that is loudest in the back below the left scapula)
- aortic root dilatation
What is turners syndrome?
Only affects females. Missing/partially missing x-linked chromosome. XO karyotype
How does turners present?
- Short stature
- Webbed neck + low set ears
- primary amenorrhea + poorly developed secondary characteristics
- High arched palate
- Raised FSH/LH + low oestradiol -> POF
- horseshow kidney
What chromosome is affected in pataus?
Trisomy 13. Not inheritied - nondisjunction or translocation
How does pataus present?
- microcephalic, small eyes
- cleft lip/palate
- polydactyly
- Scalp lesions
- Incompatible with life
What chromosome is affected in Edwards?
Trisomy 18
How does Edwards present?
- IUGR
- Micerognathia
- Overlapping fingers
- Rocker bottom feet
- Incompatible with life
- choroid plexus cysts
How does fragile x present?
- Learning difficulties/autism (lack of protein that causes brain to develop)
- Macrocephaly
- Long face
- Large ears
- Macro-orchidism
- mitral valve prolapse
3 Ms, 3 Ls
Trinucleotide disorder
How does Noonans present?
- Webbed neck
- Pectus excavatum
- short stature
- Pulmonary stenosis
- Wide spaced eyes + deep philtrum
What causes kleinfelters syndrome?
Having an addition X chromosome (not directly inherited). Only affects men.
How does Klinefelter’s present?
- Often asymptomatic till puberty
- infertility (small testes + primary testicular insufficiency)
- Taller, curved pinky, flat feet
- symptoms of low testosterone -> gynecomastia, decreased body hair
How is Klinefelter’s treated pharmacologically?
TRT
What chromosome is affected in prader-willi syndrome?
Loss of function of chromosome 15
How does prader-willi present?
- Excessive appetite/eating
- Hypotonia
- Hypogonadism
- Restricted growth
What chromosome is affected in williams syndrome?
Partial loss of chromosome 7
How does Willams present?
- Supravalvular aortic stenosis (not cyanotic)
- Intellectutal disability
- Friendly
- Broad forehead, strabimus, elfin facies
What are the 3 symptoms of shaken baby syndrome?
- Retinal haemorrhage
- Subdural haemorrhage
- Encephalopathy
Why should aspirin never be given to children?
Reyes syndrome
How does perthes disease present?
- Hip pain
- Limping
- Reduced range of motion
- Widening of joint spaces
- Leg shortening
What does a jittery and hypotonic newborn indicate?
Neonatal hypoglycaemia
What is the gold standard test for hirsphrungs?
Rectal biospy - lack of ganglionic nerve cells
What congential heart condtiion is associated with downs?
- Tetralogy of Fallot (overriding aorta, RVH, VSD, pulmonary stenosis -> Ejection systolic murmur )
- ASD: a systolic murmur is heard at
the upper left sternal edge which radiates to the back. (most common)