PAEDIATRICS 3 Flashcards
How might an older child present with DDH?
Trendelenberg gait and leg length discrepancy
How is duchennes diagnosed?
Raised CK
Genetic testing is the diagnostic tool of choice now rather than muscle biopsy
School exclusion for rubella?
5 days from the onset of the rash
School exclusion for measles?
4 days from the onset of the rash
School exclusion for mumps ?
5 days from the onset of swollen glands
Investigations to diagnose infantile spasms?
EEG will shows hypsarrhythmia
CT or MRI as 70% with have abnormalities e.g. tuberous sclerosis which is the most common cause
What is the likely cyanotic congenital heart disease that presents in the first days of life? What about in the first 1-2 months of life?
Days - Transpoistion of the great arteries
Months - tetralogy of fallot
What is enuresis?
Involuntary discharge of urine by day/night/both in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract
Possible underlying causes of enuresis in children?
Constipation
Diabetes mellitus
UTI if recent onset
Location of cystic hygroma and branchial cyst?
Cystic hygroma is usually behind the sternocleidomastoid muscle
Banchial cyst is usually anterior to this
Outline scoring system for APGAR?
Appearance- pink (2), extremities blue (1), blue all over (0)
Pulse >100 (2), <100 (1), absent (0)
Grimace - cries in stimulation/coughs/sneezes (2), grimaces (1), nil (0)
Activity - active movement (2), limb flexion (1), flaccid (0)
Resp effort - strong crying (2), weak irregular crying (1), nil (0)
0-3 low
4-6 moderate lo1
7-10 good
What does it mean if there is raised immunoreactive trypsinogen on heel prick testing?
It can indicate cystic fibrosis so a sweat test is indicated
How much more likely are children with Down’s syndrome to get leukaemia?
> 30x more likely to get ALL
100x more likely to get AML
Features of congenital rubella syndrome?
Sensorineural deafness
Congenital cataracts
Congenital heart disease
Growth retardation
Hepatosplenomegaly
Purpuric skin lesions
Salt and pepper chorioretinitis
Microphthalmia
CP
Features of congenital CMV?
Growth retardation
Blueberry muffin skin lesions - pinpoint petechiae
Microcephaly
Sensorineural deafness
Encephalitis/seizures
Hepatosplenomegaly
Features of congenital toxoplasmosis syndrome?
Neuro - cerebral calcification, hydrocephalus, chorioretinitis
Ophthalmic - retinopathy & cataracts
Features of foetal varicella syndrome?
Skin scarring
Microphthalmia (small eyes)
Limb hypoplasia
Microcephaly
LD
What does variable expressivity mean in genetics?
Expressivity is the degree to which a genotype is expressed as a phenotype within an individual
Variable expressivity is when individuals with a shared genotype exhibit varying phenotypes
From what age can a transcutaneous bilirubinometer be used in babies to measure the bilirubin level?
From 24 hours old
When is puberty considered delayed?
In boys when there are no signs of testicular development by age 14
In girls when there is no sign of breast development by 13 or no periods by age 15