Neurology > Tuberous sclerosis > Flashcards

Tuberous sclerosis Flashcards

(8 cards)

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1
Q

What iWs the inheritance pattern

A

Autosomal dominant

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2
Q

What is the characteristic feature?

A

Hamartomas - benign tissue growths

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3
Q

What organs does it tend to affect?

A

Skin
brain
lung
heart
kidney
eyes

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4
Q

What mutations occur?

A

TSC1 gene on chromosome 9
or
TSC2 gene on chromosome 16

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5
Q

What are skin features?

A

Ash leaf spots - dipigmented areas of skin shaped like ash leaves
Shagreen patches
Angiofibromas
Ungual fibromas - circular painless lumps that grow from the nail bed
Cafe-au lait spots
Poliosis - isolated patch of white hair

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6
Q

What are neurological features?

A

epilepsy
learning disability
brain tumourW

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7
Q

What is management?

A

Supportive
mTOR inhibitors - evrolimus can suppress growth of brain lung or kidney tumours

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8
Q
A
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