Paediatric

Question 1

What are the causes of short stature? (height below second centile) (failure to thrive)

Answer 1

• IUGR
• Constitutional delay
• Endocrine - GH low, IGF-1 low, excess steroid(cushing syndrome), hypothyroidism, craniopharyngioma, Laron syndrome - GH receptor issue, nutritional - coeliac, crohn, renal failure, not eating, psychosocial deprivation, chromosome disorder (downs, turner, noonan, russell-silver), achondroplasia

Question 2

What investigations can you do for a child with short stature?

Answer 2

Bedside test/simple tests - food diary, growth chart,
Bloods - FBC, U+E, IGF-1,anti-ttg IgA(coeliac), cortisol/dex supp test, TSH, sweat test (CF), calcium/phos/alp(bone profile), CRP/ESR(crohn)
Imaging - DEXA, scan(bone age), X ray of bone - look for delay, MRI head for pit tumour
Special - skeletal survey, karyotype

Question 3

Status epilepticus definition

Answer 3

> 5 minutes or it has been 2 or more distinct seizures within a 5-minute period.

Question 4

Management of status epilepticus in secondary care

Answer 4

A - E
4mg IV lorazepam
IV phenytoin
General anaesthesia - last line

Question 5

Importance of aborting seizures?

Answer 5

Prolonged seizure = permanent brain damage and mechanical trauma due to involuntary movement. Prevent fractures

Question 6

What are the causes of chronic diarrhoea in a child?

Answer 6

• Coeliac disease, IBD (crohn/UC), gastritis, diet - food intolerance (lactose, gluten), hyperthyroidism, cystic fibrosis, antibiotic use, e.coli (traveller diarrhea), parasites - schistosomiasis (very unlikely)

Question 7

What are the clinical features of coeliac in children?

Answer 7

Failure to thrive (stunted growth, growth chart faltering)

Chronic diarrhoea

Constipation (coeliac disease should be considered whenever diagnosing idiopathic constipation)

Abdominal bloating
Irritability

Features of anaemia (adolescents)

Failure to thrive (although less common due to increased calorific diets in modern western diet)
Abdominal distension
Abdominal pain
Muscle wasting (usually the buttocks are predominantly affected)
Features of anaemia (adolescents) e.g. angular cheilitis, fatigue and pallor
Arthritis
Dermatitis herpetiformis
Osteoporosis/osteopenia, Infertility
Ataxia
Epilepsy
Anxiety
Depression

Question 8

What conditions are associated with coeliac

Answer 8

‘I dont take apples, i take oranges)

IgA deficiency
Down’s syndrome
Turner’s syndrome
Autoimmune thyroid disease and autoimmune hepatitis
IgA nephropathy
Type 1 diabetes mellitus
Other autoimmune conditions (e.g. Sjögren’s, myasthenia gravis, Addison’s disease)

Question 9

How do you investigate for coeliac

Answer 9

duodenal biopsy - histology (villus atophy, crypt cell hyperplasia, intraepithelial cell lymphocytosis, inflammatory cell infiltration of the lamina propria)
Anti-tissue transglutaminase and total IgA
IgG endomyseal antibiodies(EMA), IgG deamidated gliadin peptide (DGP),
Genetic HLA DQ2 and DQ8

Question 10

Coeliac differentials?

Answer 10

Anorexia nervosa
Bacterial overgrowth of the small bowel
Crohn’s disease
Irritable bowel syndrome
Lactose intolerance
Autoimmune enteropathy

Question 11

management of coeliac disease

Answer 11

Lifelong gluten-free diet: foods containing gluten include rye, wheat, barley and oats. Dietetic input may be required and should be considered case by case.
Immunisation: individuals with coeliac disease often have functional hyposplenism (defective immune response) and therefore require pneumococcal vaccines every 5 years. Yearly influenza vaccines may be given to patients, however, this is on a case by case basis
Follow-up
Patients with coeliac disease should be followed up annually reviewing weight, height, ongoing symptoms and the need for dietetic input.9

In those with ongoing symptoms, IgA tTG measurements can be carried out to check for compliance with a gluten-free diet. Adults with well-controlled disease may be followed up less frequently.14

Question 12

What are features in Down’s syndrome

Answer 12

• Flat face
• small low set ears
• lack of nose bridge
• single epicanthal fold
• Single palmar crease

Question 13

What pregnancy screening test are available for Down’s Syndrome

Answer 13

Combined Test - screening
USS - 11 - 13 weeks test for Down’s, Patau and Edwards
- Nucal traslucency
- Thickened in down’s
Beta HCG up and PAPP-A - down

Quadruple Test - screening >14weeks for downs

Alpha-fetoprotein
Unconjugated Oestriol
beta-hCG
inhibin A

NIPT - screening
- maternal blood test for foetal DNA - test for 13, 18, 21 issues

Question 14

What is the diagnostic test for down’s

Answer 14

amniocentesis and chorionic villus sampling
- 1% risk of miscarriage