Paeds MCQ

Question 1

Achondroplasia

Answer 1

Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene. This results in abnormal cartilage giving rise to:

• 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 2

Perthes Disease

Answer 2

Perthes’ disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction.

Perthes’ disease is 5 times more common in boys. Around 10% of cases are bilateral

Question 3

Perthes disease symptoms

Answer 3

-hip pain: develops progressively over a few weeks
limp
-stiffness and reduced range of hip movement
-x-ray: early changes include widening of joint space,
-later changes include decreased femoral head size/flattening

Question 4

Perthes disease management

Answer 4

To keep the femoral head within the acetabulum: cast, braces
If less than 6 years: observation
Older: surgical management with moderate results
Operate on severe deformities

Question 5

Nappy rashes causes

Answer 5

Candida dermatitis: Typically an erythematous rash which involve the flexures and has characteristic satellite lesions
Seborrhoeic dermatitis: Erythematous rash with flakes. May be coexistent scalp rash
Psoriasis: A less common cause characterised by an erythematous scaly rash also present elsewhere on the skin
Atopic eczema: Other areas of the skin will also be affected

Question 6

Wilms Tumour

Answer 6

Wilms’ nephroblastoma is one of the most common childhood malignancies. It typically presents in children under 5 years of age, with a median age of 3 years old.

Features
abdominal mass (most common presenting feature)
painless haematuria
flank pain
other features: anorexia, fever
unilateral in 95% of cases
metastases are found in 20% of patients (most commonly lung)

Question 7

Wilms tumour management

Answer 7

nephrectomy
chemotherapy
radiotherapy if advanced disease
prognosis: good, 80% cure rate

Question 8

Cystic fibrosis presentation

Answer 8

Presenting features
neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
recurrent chest infections (40%)
malabsorption (30%): steatorrhoea, failure to thrive
other features (10%): liver disease

Other features of cystic fibrosis
short stature
diabetes mellitus
delayed puberty
rectal prolapse (due to bulky stools)
nasal polyps
male infertility, female subfertility