Syndromes

Question 1

Diagnostic criteria of following syndromes:

NF1
NF2
TS
VHL
Sturge Weber

Answer 1

NF1: 2 of NFBLOCA
NF2:
TS: 2 major, or 1 major and 2 minor criteria
VHL
Sturge Weber: 2/3 of 1. facial port wine birth mark, 2. increased intraocular pressure, 3. leptomeningeal angiomatosis

Question 2

Schwannomin

Answer 2

On chromosome 22

Cytoskeleton protein, TSG by inhibiting growth

Question 3

VHL tumours

Answer 3

HIPPEL

Haemangioblastoma
I = eye. Retinal haemangioblastoma
P = phaeo, RCC
P= pancreatic cysts
E= endolymphatic sac tumours
L = liver cysts

Question 4

VHL screening (x5)

Answer 4

Annual eye tests
Annual BP monitoring, and urine catecholamines
Mri neuraxis every 2 years
Audiology every 2 years
Abdo mri and USS every 2 years for RCC

Question 5

Diagnostic criteria for VHL

Answer 5

First deg relative plus one of the tumours.

At least 2 of the tumours if no positive FH

Question 6

HHT

Answer 6

Autosomal dominant
5 genetic types, mutations in ENG, ACVRL1

Nose bleeds
GIT bleeds
Perioral telangiectasia
Varies and portal hypertension

Question 7

Triad of klippel feil

Answer 7

Short neck
Low lying hair line
Limited range of neck movements

Question 8

What do VHL patients die from

Answer 8

RCC

Question 9

Screenings for VHL

Answer 9

Annual:
BP and pulse rate, with 24hr metanephrines. From 2y/o
Ophthalmology review from birth

2 yearly:
MRI head and whole spine (from 11 y/o)
Audiogram (from 11y/o)
MRI abdomen pre and post contrast (RCC, phaeo, paraganglioma, pancreatic neuroendocrine tumour)