Child health

Question 1

Achondroplasia

Answer 1

autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene

Question 2

Signs and symptoms of achondroplasia

Answer 2

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

Question 3

What type of mutation causes achondroplasia

Answer 3

• sporadic mutation
• autosomal dominant inherited

Question 4

Treatment of achondroplasia

Answer 4

There is no specific treatment
Some patients may benefit from lengthening procedure (e.g lizards frames)

Question 5

Features of epiglottis

Answer 5

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

Question 6

Epiglottis

Answer 6

Acute epiglottitis is rare but serious infection caused by Haemophilus influenzae type B.

Question 7

What are the imagining findings of epiglottis

Answer 7

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’

Question 8

Management of epiglottis

Answer 8

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

Question 9

Acute lymphoblastic Leukaemia

Answer 9

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

Question 10

Features of ALL

Answer 10

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

Question 11

Types of ALL common ALL

Answer 11

common ALL (75%), CD10 present, pre-B phenotype
T-cell ALL (20%)
B-cell ALL (5%)

Question 12

Poor prognostic factors of ALL

Answer 12

age < 2 years or > 10 years
WBC > 20 * 109/l at diagnosis
T or B cell surface markers
non-Caucasian
male sex

Question 13

Alpha- thalassaemia

Answer 13

Alpha-thalassaemia is due to a deficiency of alpha chains in haemoglobin

2 separate alpha-globulin genes are located on each chromosome 16

Question 14

When are Apgar scores taken?

Answer 14

1, and 5 minutes of age. If the score is low then it is again repeated at 10 minutes.

Question 15

Score of 2 (Apgar)

Answer 15

Pulse > 100
Resp effort Strong, crying
Colour. Pink
Muscle tone Active movement
Reflex irritability Cries on stimulation/sneezes, coughs

Question 16

Score of 1 (Apgar)

Answer 16

Pulse <100
Resp effort- weak, irregular
Colour- body pink and blue extremities
Muscle tone limb flexi on
Reflex irritability grimace

Question 17

Score of 1 (apgar)

Answer 17

Pulse absent
Resp effort Nil
Colour blue all over
Muscle tone Flaccid
Reflex irritability nil

Question 18

What is the interpretation of Apgar score

Answer 18

A score of 0-3 is very low score, between 4-6 is moderate low and between 7 - 10 means the baby is in a good state

Question 19

Fluid maintenance in children

Answer 19

100ml/kg for the first 10kg, 50ml/kg for the next 10kg and 20ml/kg for every subsequent kg.