paediatric medicine Flashcards
A baby girl who is 9 days old starts to have seizures lasting around 4-5 minutes, several times per day. She has a port wine stain covering the left side of her face in the distribution of the trigeminal nerve.
Dx?
sturge-weber syndrome
A 6 month old baby is brought in by his mother as he is suffering from a dry cough and is wheezing. She is having difficulty in feeding him. On examination he is tachypnoeic, tachycardic and you notice some subcostal recession.
Dx?
acute bronchiolitis
A worried father brings his 18 month old daughter in as she has not been putting on weight and is pale. Her stools are always very bulky and look greasy and smell foul. Her appetite is good. In the last 6 months she has had 3 bad ‘chest infections’.
Dx?
cystic fibrosis
A 3 year old boy presents after his mother notices he has 7-8 brown pigmented patches on his body, primarily covering his torso and back. She is also surprised that he has freckles in his armpits.
Dx?
neurofibromatosis
A 10 month old infant is brought in with swelling of his fingers on both hands. This is painful when his parents touch his hands. His parents think his skin is yellow. His haemaglobin is 7.2 g/dL.
Dx?
sickle cell disease
