Child health Flashcards
Presentation and conditions
Achondroplasia
autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene
Signs and symptoms of achondroplasia
short limbs (rhizomelia) with shortened fingers (brachydactyly)
large head with frontal bossing and narrow foramen magnum
midface hypoplasia with a flattened nasal bridge
‘trident’ hands
lumbar lordosis
What type of mutation causes achondroplasia
- sporadic mutation
- autosomal dominant inherited
Treatment of achondroplasia
There is no specific treatment
Some patients may benefit from lengthening procedure (e.g lizards frames)
Features of epiglottis
rapid onset
high temperature, generally unwell
stridor
drooling of saliva
‘tripod’ position: the patient finds it easier to breathe if they are leaning forward and extending their neck in a seated position
Epiglottis
Acute epiglottitis is rare but serious infection caused by Haemophilus influenzae type B.
What are the imagining findings of epiglottis
a lateral view in acute epiglottis will show swelling of the epiglottis - the ‘thumb sign’
in contrast, a posterior-anterior view in croup will show subglottic narrowing, commonly called the ‘steeple sign’
Management of epiglottis
immediate senior involvement, including those able to provide emergency airway support (e.g. anaesthetics, ENT)
* endotracheal intubation may be necessary to protect the airway
DO NOT examine the throat due to the risk of acute airway obstruction
- oxygen
- intravenous antibiotics
Acute lymphoblastic Leukaemia
most common malignancy affecting children and accounts for 80% of childhood leukaemias
Peak incidence is around 2-5 years
- boys are affected more than girls
Features of ALL
anaemia: lethargy and pallor
neutropaenia: frequent or severe infections
thrombocytopenia: easy bruising, petechiae
bone pain (secondary to bone marrow infiltration)
splenomegaly
hepatomegaly
fever is present in up to 50% of new cases (representing infection or constitutional symptom)
testicular swelling
Types of ALL common ALL
common ALL (75%), CD10 present, pre-B phenotype
T-cell ALL (20%)
B-cell ALL (5%)
Poor prognostic factors of ALL
age < 2 years or > 10 years
WBC > 20 * 109/l at diagnosis
T or B cell surface markers
non-Caucasian
male sex
Alpha- thalassaemia
Alpha-thalassaemia is due to a deficiency of alpha chains in haemoglobin
2 separate alpha-globulin genes are located on each chromosome 16
When are Apgar scores taken?
1, and 5 minutes of age. If the score is low then it is again repeated at 10 minutes.
Score of 2 (Apgar)
Pulse > 100
Resp effort Strong, crying
Colour. Pink
Muscle tone Active movement
Reflex irritability Cries on stimulation/sneezes, coughs
Score of 1 (Apgar)
Pulse <100
Resp effort- weak, irregular
Colour- body pink and blue extremities
Muscle tone limb flexi on
Reflex irritability grimace
preseptal cellulitis
