Neurocutaneous

Question 1

[Gen/Neurocutaneous/NF1]

Clinical criteria for neurofibromatosis 1? (7)

Answer 1

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

Question 2

[Gen/Neurocutaneous/NF1]

Positive cafe au lait spot sizes?

Answer 2

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

Question 3

[Gen/Neurocutaneous/NF1]

Bony changes of neurofibromatosis 1? (3)

Answer 3

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

Question 4

[Gen/Neurocutaneous/NF1]

Percentage of de novo AD mutation in neurofibromatosis 1?

Answer 4

50%

Question 5

[Gen/Neurocutaneous/NF2]

Symptoms of vestibular shwannomas? (4)

Answer 5

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

Question 6

[Gen/Neurocutaneous/NF2]

Diagnostic criteria for neurofibromatosis 2? (2)

Answer 6

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.

Question 7

[Gen/Neurocutaneous/NF2]

Other benign tumors associated with neurofibromatosis 2? (5)

Answer 7

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

Question 8

[Gen/Neurocutaneous/TS]

Skin/nail features of tuberous sclerosis? (5)

Answer 8

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

Question 9

[Gen/Neurocutaneous/TS]

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

Answer 9

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

Question 10

[Gen/Neurocutaneous/TS]

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

Answer 10

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

Question 11

[Gen/Neurocutaneous/NF1]

Distinctive osseous lesions for neurofibromatosis type 1? (2)

Answer 11

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

Question 12

[Gen/Neurocutaneous]

Diagnosis?
Cause?

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

Answer 12

Sturge-Weber syndrome

• Cause:
  Somatic mosaic mutation in GNAQ