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2. Genetics > Neurocutaneous > Flashcards

Neurocutaneous Flashcards

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1
Q

[Gen/Neurocutaneous/NF1]

Clinical criteria for neurofibromatosis 1? (7)

A
  1. ≥ 6 cafe au lait spots
  2. ≥ 2 neurofibromas of any type or ≥ 1 plexiform neurofibroma
  3. Freckling in the axillary or inguinal areas
  4. Optic glioma
  5. ≥ 2 Lisch nodules
  6. Sphenoid dysplasia or thinning of the long bone cortex, with or without pseudoarthrosis
  7. first decree relative with NF1
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2
Q

[Gen/Neurocutaneous/NF1]

Positive cafe au lait spot sizes?

A

> 5 mm in greatest diameter in prepubertal children
15 mm in postpubertal children

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3
Q

[Gen/Neurocutaneous/NF1]

Bony changes of neurofibromatosis 1? (3)

A
  1. Sphenoid wing dysplasia
  2. Long bone bowing - m/c tibia
  3. Dysplastic scoliosis
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4
Q

[Gen/Neurocutaneous/NF1]

Percentage of de novo AD mutation in neurofibromatosis 1?

A

50%

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5
Q

[Gen/Neurocutaneous/NF2]

Symptoms of vestibular shwannomas? (4)

A
  1. Sensorineural hearing loss
  2. Tinnitus
  3. Imbalance
  4. Facial weakness
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6
Q

[Gen/Neurocutaneous/NF2]

Diagnostic criteria for neurofibromatosis 2? (2)

A
  1. bilateral vestibular schwannomas or
  2. unilateral vestibular schwannoma accompanied
    by 2 of the following
    meningioma,
    schwannoma,
    neurofibroma,
    glioma,
    cataract in the form of subcapsular lenticular opacities,
    cortical wedge cataract.
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7
Q

[Gen/Neurocutaneous/NF2]

Other benign tumors associated with neurofibromatosis 2? (5)

A
  1. meningioma
  2. schwannoma
  3. pheochromocytoma
  4. glioma
  5. cataract, subcapsular lenticular opacities, cortical wedge
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8
Q

[Gen/Neurocutaneous/TS]

Skin/nail features of tuberous sclerosis? (5)

A
  1. Hypopigmented macules (ash-leaf spots)
  2. Shagreen patches
  3. Facial angiofibromas
  4. Forehead plaques
  5. Ungal and gingival fibromas
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9
Q

[Gen/Neurocutaneous/TS]

Other features than skin/nail of tuberous sclerosis? (4)

A
  1. Cortical tubers and subependymal nodules
  2. Rhabdomyomas
  3. Renal angiomyolipomas or renal cysts
  4. Polycystic kidney disease associated with TSC 2
  5. Neuro: seizures, infantile spasm
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10
Q

[Gen/Neurocutaneous/TS]

___ % infant with tuberous sclerosis has cardiac rhabdomyomas?
And it regress in the first ___ years

A

50% infant with tuberous sclerosis has cardiac rhabdomyomas?
And it regress in the first 3 years

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11
Q

[Gen/Neurocutaneous/NF1]

Distinctive osseous lesions for neurofibromatosis type 1? (2)

A
  1. Sphenoid dysplasia
  2. Thinning (bowing) of the long bone cortex
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12
Q

[Gen/Neurocutaneous]

Diagnosis?
Cause?

Port-wine stain
Seizures, infantile spams, intellectual disability
Glaucoma, choroidal vascular anomalies

A

Sturge-Weber syndrome

  • Cause:
    Somatic mosaic mutation in GNAQ
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2. Genetics (19 decks)

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