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CORE Multisystemic > Phakomatosis - NF1 > Flashcards

Phakomatosis - NF1 Flashcards

1
Q

Most common phakomatosis

A

NF1

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2
Q

NF1 chromosome

A

chromosome 17

17q11.2; tumor suppressor of Ras/MAPK pathway is broken

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3
Q

another name for NF1

A

von Recklinghausen

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4
Q
  • Nerve stuff
    • plexiform neurofibroma
    • optic nerve glioma
    • eye hamartomas (lisch nodules)
  • skin stuff
    • > 6 cafe au lait spots in one year
    • intertriginous freckles
  • bone stuff
    • sphenoid wing dysplasia
    • pseudoarthrosis
A

NF1

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5
Q
A

pseudoarthrosis

NF1

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6
Q
A

NF1

progressive bowing fo the anterolateral tibia and

pseudoarthrosis of the fibula (cupping of the bone proximal to the absent section and sharpened narrow appearance of the distal bone)

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7
Q
A

NF1

pseudoarhtrosis

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8
Q

in a patient with NF1, where do Juvenile pilocytic astrocytomas occur?

A

optic pathway

***JPAs in the posterior fossa are NOT associated with NF1

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9
Q

inheritance pattern of NF1

A

50% AD

50% spontaneous mutation

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10
Q
A

NF1 cutaneous nodules

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11
Q
A

NF1 mammo

multiple cutaneous neurofibromas outlines by air

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12
Q
A

NF1 sphenoid wing dysplasia

Sphenoid wing dysplasia is seen in 5-10% of cases of NF1 and is one of the diagnostic criteria of NF1

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13
Q
A

NF1

“bare orbit sign” in the right orbit. Sphenoid bone dysplasia allowing the frontal lobe to herniate.

Arrow on the prior image pointed to a normal left lesser sphenoid wing

https://radiopaedia.org/cases/bare-right-orbit-sphenoid-dysplasia-due-to-neurofibromatosis-type-1?lang=us

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14
Q
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15
Q
A

unidentified bright object - NF1

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16
Q

cause of Focal areas of signal intensity (FASI) in NF1 patients

(previously called “unidentified bright objects”)

A

thought to be caused by spongiform myelinopathy/ myelin vacuolization

no inflammation and NO demyelination

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17
Q

In NF1 patients which FASI is associated with cognitive impairment?

A

thalamic FASIs

18
Q

NF1 patient

A

FASI

19
Q

FASI lesion seen in what age?

A

4-12 year old –> fades over time into adulthood

20
Q

WHO grade of neurofibromas

A

WHO grade 1

21
Q

plexiform neurofibroma risk of malignant degeneration

A

5%

22
Q
A

peripheral nerve sheath tumor - target sign

most commonly associated with a localized neurofibroma

23
Q

optic nerve glioma association

A

NF1

24
Q
A

acute cervical kyphosis in a pt with NF1 and multiple plexiform neurofibromas

25
Q
A

Cervical spine neurofibroma –> cervical kyphosis

https://radiopaedia.org/cases/cervical-spinal-neurofibroma-in-a-patient-with-nf1

26
Q
A
27
Q
A

NF1 ribbon ribs (on the right) and multiple cutaneous nodules (yellow arrows)

https://radiopaedia.org/cases/neurofibromatosis-type-1-ribbon-ribs-2?lang=us

28
Q
A

NF1 vertebral body scalloping

There are exaggerated concavities of almost all of the lumbar vertebral bodies posteriorly (red arrows) in a patient with neurofibromatosis. The scalloping may be due to dural ectasia (more commonly) or neurofibromas themselves.

29
Q
A

NF1 dural ectasia

30
Q

NF1 extracranial neoplasms

A
  • Wilms
  • Rhabdomyosarcoma
  • AML
  • leiomyosarcoma
31
Q

renal artery stenosis in a teenager

A

NF1

32
Q

teenageer with HTN

A

NF1

33
Q
A

Bupthalmos =enlarged eyeball due to increased intraocular pressure from sphenoid dysplasia (absent orbit)

this NF1 or sturge weber

34
Q
A

NF1

plexiform neurofibromas in the sacrum

35
Q
A

NF1 widened neuroforamen

36
Q
A

NF1 plexiform neurofibromas

37
Q

difference between a Schwannoma and a neurofibroma

A

Neurofibromas infiltrate the nerve - resection requires nerve sacrifice

Schwannoma is ECCENTRIC to the nerve - can be scooped out with sparing the nerve

38
Q
A

NF1

lateral thoracic meningocele

39
Q
A

NF1. CT lateral thoracic meningocele

results from herniation of the meninges through a foramen or a defect in the vertebral column.

They are typically associated with neurofibromatosis type I but can rarely occur in isolation. In these patients, they may occur in association with thoracic spine scoliosis.

When scoliosis/kyphosis is present, the meningocele is located at the apex of the convexity.

40
Q

vascular anomalies in NF1

A
  • aortic coarctation
  • renal artery stenosis
  • aneurysms
  • AV fistula
41
Q
A

NF1 optic nerve glioma

42
Q

10 yokid with blurred vision, cafe au lait spots

A

NF1 with FASI in basal ganglia and bilateral optic nerve gliomas

CORE Multisystemic (8 decks)

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