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
