paeds

Question 1

congenital dislocation of hip ix and rx

Answer 1

• USS
• If more than 4.5 months old then XR
• Leave for 6 weeks
• If still unstable - pavlik harness if <4.5 months old. if older = surgery

Question 2

treatment for whooping cough in a neonate

Answer 2

• azithromycin

Question 3

tinkling bowel sounds and RDS in a neonate - what could be the cause

Answer 3

• cognenital diapragmatic hernia

Question 4

phenylketonuria presentation and what is it and rx

Answer 4

• neuro signs - LD, seizures, microcephaly
• growth failure
• hypopigmentation

what? phenylalanine metabolism impaired

rx - phenylalanine restricted diet

Question 5

homocystinuria presentation

Answer 5

• lens subluxation
• Developmental delay
• presents like marfans
• high risk of cerebrovasc events and VTE

rx

• low protein diet
• pyroxidine
• folic acid supplement

Question 6

what is galctosaemia and what is the screening test for it

Answer 6

• on exposure to lactose

- buetler test

Question 7

Medium chain Acyl CoA dehydrogenase deficiency what and sx and rx

Answer 7

• cant metbaolise FA to acetyl coa so cant make glucose appropriately
• non ketotic hypoglycaemia after fast. encephalopathy

rx
- dont fast

Question 8

Glutaric aciduria type 1 what, sx, rx

Answer 8

• too much glutaric acid due to enzyme deficiency
• sits in basal ganglia
• causes secondary carnitine deficiency as excess glutaric acid is usually mopped up by it.

–> macrocephaly, encephalopathy and dystonic and dyskientic movements at 1yrs old

rx - dont fast and dialy carnitien

Question 9

assessing suicide risk in kids

Answer 9

• PATHOS
• Problems >1/12
• Alone at home
• Three hrs+ planning for OD
• HOpeless about future
• Sad all the time before OD

high risk if score >2