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MRCP Neurology > Tuberous sclerosis > Flashcards

Tuberous sclerosis Flashcards

1
Q

Inheritance

A

Autosomal dominant

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2
Q

Cutaneous features of Tuberous Sclerosis

A
  • ‘ash-leaf’ spots
  • Shagreen patches (lumbar spine)
  • angiofibromas (butterfly distribution over nose)
  • subungual fibromata
  • café-au-lait spots
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3
Q

Neurological features of Tuberous Sclerosis

A
  • developmental delay
  • epilepsy
  • intellectual impairment
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4
Q

Describe the appearance of retinal hamartomas which are seen in Tuberous sclerosis

A

dense white areas on retina (phakomata)

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5
Q

Renal involvement in tuberous sclerosis

A

Polycystic kidneys
renal angiomyolipomata

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6
Q

Lung involvement in tuberous sclerosis

A

lymphangioleiomyomatosis: multiple lung cysts

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7
Q

Cardiac lesion in tuberous sclerosis

A

rhabdomyomas of the heart

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8
Q
A
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MRCP Neurology (62 decks)

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