Neurocutaneous Syndromes

Question 1

What is the basis of neurocutaneous syndrome

Answer 1

the common ectodermal embryological origins where disruptions may cause abnormalities in both systems

Question 2

What is NF type 1?

Answer 2

autosomal dominant highly penetrant,with mutation in NF 1 gene.

Question 3

NF 1 diagnostic criteria

Answer 3

2 or more

1. > = 6 cafe au lait spots - >5mm prepubertal or >15mm post pubertal
2. > 1 neurofibroma: overgrowth of nerve
3. axillary freckling
4. optic glioma
5. Lisch nodule: harmatoma of the iris
6. bony lesions of sphenoid dysplasia
7. first degree relative

Question 4

What is NF2?

Answer 4

multiple menigiomas enpendymomas and schwannomas .

Question 5

What is NF 2 inheritance pattern?

Answer 5

autosomal dominant

Question 6

Who gets it?

Answer 6

adolescents

Question 7

How does NF 2 present?

Answer 7

bilateral acoustic neuromata , deafness, cerebellopontine angle syndrome, facial nerve paresis and cerebellar ataxia

Question 8

Associations of NF

Answer 8

MEN syndromes, pheo, pulm htn, renal artery stenosis

Question 9

What is the prevalence of Tuberous Sclerosis?

Answer 9

1 in 9000 live births

Question 10

What is the cause of TS?

Answer 10

autosomal dom mutations in the TSC 1 and 2 genes

Question 11

Cutaneous manifestations of ts

Answer 11

depigmented Ash leaf shaped patches
amelanotic naevi ( fluorescence under UV light)
roughened patches of skin
angiofibromata

Question 12

Ash leaf patches

Answer 12

TS

Question 13

Woods light

Answer 13

TS amelanotic naevi that are flourescent under UV light

Question 14

Shagreen patches

Answer 14

TS roughened patches of skin

Question 15

Adenoma Sebaceum

Answer 15

TS angiofibromata, butterfly distribution

Question 16

Neurological features of TS

Answer 16

infantile spasm and developmental delay
epilepsy
intellectual disability
subependymal nodules ->giant cell astrocytomas
 ->hydrocephslus
and cortical tubers

Question 17

what percentage is the neurological signs seen in?

Answer 17

50%

Question 18

What is port wine stain seen in?

Answer 18

Sturge webber syndrome

Question 19

What is sturge webber syndrome

Answer 19

sporadic disorder with hemagiomatous facial lesions assoc with epilepsy intellectual distubances and contralateral hemiplegia

Question 20

Which nerve does the port wine stain follow in distribution?

Answer 20

trigeminal nerve

Question 21

what is the characteristic finding on XR for Sturge webber?

Answer 21

classic rail road track calcification of gyri

MRI more common now

Question 22

What is a child at risk for with struge webber?

Answer 22

ipsilatera gaucoma in 50%