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Flashcards in multisystem disorders Deck (26)
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1

what is NF1

neurofibromatosis type 1
autosomal dominant disease

2

what is the genetic problem in NF1

problem with 17q (tumour suppression gene)

3

what are the diagnostic criteria for NF1

2 of CRABBING
CAL spots
Relative with NF1
Axillary/inguinal freckles
Bony dysplasia
Bowing of long bones
Iris hamartomas
Neurofibromas/plexiform neurofibroma
Glioma of optic nerve

4

what are cafe au lait spots

coffee coloured patches
have smooth edges in NF1
2+ cm
6+ in NF1
also found in general population - have wrinkled edges

5

what are neurofibromas

tumours in the nerve sheath cells
seen as raised red lumps
can be felt under skin surface

6

what are plexiform neurofibromas

more severe neurofibromas
can be large and disfiguring
infiltrating lesions

7

what are iris hamartomas

known as lisch nodules
brown specks in iris
one of the earliest features

8

what is optic neuroma

slow growing tumour on optic nerve
can cause blindness

9

what are other features of NF1

ME N SDR PLS
macrocephaly
epilepsy
neoplasia
short stature
dysmorphic features
raised BP
pseudoarthritis of tibia
learning difficulties
scoliosis

10

what investigations could you do in NF1

genetic testing
X-ray bones
CT/MRI for brain lesions

11

how do you manage NF1

no cure
manage symptoms
annual testing of:
BP
spine for scoliosis
tibia for unusual angulation
visual acuity/fields
educational assessment

12

what is NF2

neurofibromatosis type 2
rarer than type 1
autosomal dominant

13

where is the genetic problem in NF2

NF2 gene is on chromosome 22

14

what are symptoms/features of NF2

acoustic neuromas
CNS tumours
schwannomas
cataracts

15

what is tuberous sclerosis

autosomal dominant genetic condition

16

what genes cause TS

TSC1 and TSC2
problems with these genes cause formation of hamartomas

17

what are hamartomas

benign neoplastic tissue growths
commonly effect brain, lungs, heart, kidneys

18

what is the classic triad in TS

epilepsy - usually early onset + hard to treat
learning difficulties
skin lesions

19

what skin lesions can occur in TS

ash leaf spots
shagreen patches
angiofibroma
sugungual fibromata
CAL spots

20

what are other features of TS

PKD
phakoma of eye (small grey tumour)
rhabdomyomas
sub-ependymal nodules
poliosis

21

what investigations could you do for TS

screen at risk relatives
MRI
renal US
echo

22

what would you look for in clinical exam of TS

skin signs
woods lamp to show ashy patches on skin
retinal exam
nails for angiofibroma

23

how do you manage TS

supportive management
monitor
treat epilepsy

23

how do you manage TS

supportive management
monitor
treat epilepsy

24

what is myotonic dystophy

autosomal dominant genetic condition

25

what are features of myotonic dystrophy

muscle weakness/stiffness/myotonia - face, neck, diaphragm. forearms, shins
bilateral late onset cataract
heart block
low motivation
ptosis
DM