Neurocutaneous Disorders

Question 1

3 neurocutaneous disorders related to embryonic development

Answer 1

1. tuberous sclerosis
2. neurofibromatosis
3. Sturge-Weber Syndrome

Question 2

Tuberous Sclerosis

causes

Answer 2

• sporadic
• autosomal dominant inheritance

Question 3

Tuberous Sclerosis

characterized by

Answer 3

• seziures
• slow, progressive psychomotor deterioration
• begin in early childhood

Question 4

Tuberous Sclerosis

when does skin manifestation begin? describe it?

Answer 4

• between 5-10 y/o
• red nodules on the face

Question 5

Tuberous Sclerosis

additional sx?

3

Answer 5

1. subungual fibromas
2. shagreen patches
3. leaf-shaped hypopigmented spots

Question 6

Neurofibromatosis

describe Type 1 (recklinghausen dz)

Answer 6

• multiple hyperpigmented macules
• lisch nodules
• neurofibromas

Question 7

Neurofibromatosis

where is genetic mutation for Type 1

Answer 7

NF1 gene on chromosome 17

Question 8

Neurofibromatosis

describe type 2

Answer 8

• bilateral 8th nerve tumors and other tumors

Question 9

Neurofibromatosis

genetic mutation for Type 2

Answer 9

NF2 on chromosome 22

Question 10

Neurofibromatosis

sx non-specific to type

2

Answer 10

• palpale, mobile nodules on cutaneous nerves
• cafe au lait spots

Question 11

Sturge-Weber Syndrome

describe

Answer 11

• congenital, usually unilateral cutaneous capillary angioma on the face

Question 12

Sturge-Weber Syndrome

sx

5

Answer 12

1. “tramline” calcifications
2. vascular headache
3. port wine stain/nevus flammeus
4. glaucome
5. seizures

Question 13

Sturge-Weber Syndrome

skull XR findings

Answer 13

abnormal mineral deposits (only seen after age 2)