pyloric stenosis

Question 1

hypertrophy of what

Answer 1

Pyloric stenosis is a condition resulting from the hypertrophy of the pyloric sphincter.
Typically occurs in babies aged 6-8 weeks old
More common in males

Question 2

sx

Answer 2

This leads to vomiting after feeds, which can be projectile (i.e. hitting walls)
The vomiting may increase with intensity as the obstruction becomes more severe
On examination, especially during feeding, the hypertrophic pyloric sphincter might be palpable as a smooth olive-sized mass
Severe vomiting in pyloric stenosis may lead to an acid base abnormality of hypochloremic hypokalemic metabolic alkalosis
Dehydration

Question 3

dx and gold standard imaging

Answer 3

abdominal ultrasound to visualise the hypertrophic sphincter

Question 4

tx

Answer 4

Management of pyloric stenosis is surgical with a pyloromyotomy to cut the pyloric sphincter to widen the outlet
Until the procedure, the baby should be nil-by-mouth and kept on IV fluids
Severely dehydrated babies may require acute fluid resuscitation

Question 5

A 2-year-old girl presents to the GP with her parents as they are concerned about their daughters growth. For six months, her appetite has been poor. She is not vomiting, but her stools are very loose, pale and smelly. There is no blood or mucous in her stool. On examination, she is pale. Her abdomen is distended with an everted umbilicus but no masses are palpable. Her weight and height are measured to be in the 25th percentile.

Which of the following is the most likely underlying diagnosis?

Answer 5

coealiac disease

General appearance: check for pallor (secondary to anaemia), short stature and wasted buttocks (secondary to malnutrition), and features of vitamin deficiency secondary to malabsorption (e.g. bruising due to vitamin K deficiency).

Dermatological manifestations: dermatitis herpetiformis (pruritic papulovesicular lesions over the buttocks and extensor surfaces of the arms, legs, and trunk).

Abdominal examination: there may be abdominal distension.

Question 6

blood tests for coeliac

Answer 6

anti-TTG IgA antibody is measured first line.
An IgA level should be measured in conjunction (2% of coeliac disease patients are IgA deficient so will have a false negative anti-TTG IgA).
Anti-TTG IgG can be measured if the patient is IgA deficient.

Question 7

A 2-year-old boy presents to the GP with his mother. She is worried that he is not growing like the other children in his pre-school. She reports he has had diarrhoea for the past two weeks, and occasional abdominal pain. On examination the child has conjunctival pallor and the abdomen is slightly distended. Observations are normal. He is up to date with his immunisations. His growth charts show he has dropped 2 centile lines in weight over the past month.

What is the most likely diagnosis?

Answer 7

coealiac disease

Question 8

Turner’s syndrome is a condition that affects only females and results when one of the X chromosomes is missing or partially missing.

what symtpoms and cardiac symtpoms

Answer 8

Short stature
Lymphoedema of hands and feet in neonate, may persist
Spoon-shaped nails
Webbed neck
Widely space nipples
Wide carrying angle
Congenital heart defects - bicuspid aortic valve (most common), coarctation of the aorta
Delayed puberty
Ovarian dysgenesis causing infertility
Hypothyroidism
Recurrent otitis media
Normal intellect

give growth hormone and oestrogen replacement to allow development of secondary sexual characteristics