Syndromes

Question 1

Kawasaki

Answer 1

> 5 days fever

4 of:
Conjunctival injection
Rash on hands and feed
Adenopathy
Strawberry tongue
Hand and feet swelling

BCG reactivation, cracked lips

Tx:
Admission
Antibiotics
IViG
High dose aspirin
Urgent ECHO

Question 2

NF1

Answer 2

2 or more of:

5 or more Cafe au lait macules > 15mm in post pubertal children

2 or more neurofibromas or 1 plexiform neurofibroma

Axillary or inguinal freckling

Optic nerve glioma

Iris lisch nodule

First degree relative with NF1

Sphenoid wing dysplasia or congenital thinning/bowing of long bone cortex.

Ddx: genetic testing

Question 3

Tuberous sclerosis

Answer 3

Facial angiofibroma
Unfurl fibroma
Shagreen patch (rough ovoid patch)
Cortical tubers
Renal angiomyolipoma

Question 4

Puberty in girls

Answer 4

8-13 years

Question 5

Puberty in boys

Answer 5

9-14 years