Paeds

Question 0

10 month milestones

Answer 0

GM: cruises
FM: pincer grip
Hearing: consonant babble, use noise discriminately to parents
Social: peek-a-boo, hides from stranger

Question 1

Developmental milestones at 7months old

Answer 1

Gross motor(GM): sits up straight
Fine motor: transfers objects
Social: puts food in mouth (ie. mouthing)
Hearing: turns to soft sounds

Question 2

1y/o milestone

Answer 2

GM: walks with broad based gait
FM: pincer grip (upper limit)
Hearing & speech: 2-3words excl. mama papa
Social: drinks from cup by self

Question 3

18 month milestone

Answer 3

GM: walks independently (upper limit)
FM: crayon to draw big things
Hearing: almost speak 20 words
Social: uses spoon to feed self

Question 4

2y/o milestone

Answer 4

GM: walk upstairs, kick a ball
FM: build tower of 8
Hearing &speech: simple phrases of 2-3 words per sentence
Social: symbolic play (upper limit)

Question 5

Di-George Syndrome

Aetiology of disease

Answer 5

“CATCH-22”
Cardiac anomalies- VSD, TOF, interrupted aortic arch
Abnormal facies - downward pointing eyes, big ears
Thymic hypoplasia (&Ig deficiencies)
Cleft lip and palate
Hypocalcaemia

On chromosome 22, DELETION of no.22

Mothers who are DIABETIC & Foetal alcohol exposure

Question 6

Ebsteins anomaly clinical features

Answer 6

1. Tricuspid valve septal leaflet is DISPLACED towards the RV.

Tricuspid regurgitation murmur
Right ventricular condition defects
Wolf-Parkinson white
RA looks bigger -> balloon shaped heart on CXR.

Most die in infancy

Question 7

Edwards Syndrome

Answer 7

Chromosome 18 trisomy

Big back of head
Small chin
ROCKER BOTTOM FEET (ie. prominent heel)
Short sternum
Heart and renal problems.
OVERLAPPING FINGERS

Most die in infancy

Question 8

Patau syndrome

Answer 8

Chromosome 13 trisomy

Undescended or abnormal testes
Polydactyly

(Think the neurosurgeon, with undescended testes and lots of fingers)

Question 9

Fragile X syndrome

1. Aetiology
2. Clinical features

Answer 9

1. Gap somewhere in X-chromosome, females have mild learning disability. Triple repeat, and can worsen with generations.
2. Boys have Big everything:
   Huge testes
   Huge head
   Huge forehead

Question 10

Kleinfelter syndrome

1. Aetiology
2. Clinical features

Answer 10

1. XXY - she-male

2. Basically need more testosterone
Gynaecomastia
Small testes
Infertile
Tall

Normal pubertal development, and can give some testosterone supplements

Question 11

McArdles glycogen storage disease clinical features

Answer 11

Autosomal recessive

Muscle weakness and cramps with exercise, lose myoglobin due to metabolic disorder. Raised lactic acid,

Second wind phenomenon = muscles start using other sources, eg FAs for metabolism after a while, and they get a second burst of energy.

Question 12

Conditions associated with Coarctation of the aorta

Answer 12

Neurofibromatosis 1

Turner syndrome

Question 13

Neonatal meningitis

Answer 13

Usually group B strep, can also be listeria.

Listeria usually causes pneumonia and septicaemia too

Question 14

Neonatal HIV infection

Answer 14

Usually present ~8months?

Diarrhoea, fever, FTT, Generalised Lymphadenopathy

Question 15

Neonatal HSV infection

Answer 15

Blistering rashes on face
Hepatosplenomegaly
Jaundice

Question 16

Chlamydiae infection of neonate

Answer 16

Bilateral conjunctivitis, can eventually lead to blindness