Neurocutaneous Syndromes Flashcards
What is the basis of neurocutaneous syndrome
the common ectodermal embryological origins where disruptions may cause abnormalities in both systems
What is NF type 1?
autosomal dominant highly penetrant,with mutation in NF 1 gene.
NF 1 diagnostic criteria
2 or more
- > = 6 cafe au lait spots - >5mm prepubertal or >15mm post pubertal
- > 1 neurofibroma: overgrowth of nerve
- axillary freckling
- optic glioma
- Lisch nodule: harmatoma of the iris
- bony lesions of sphenoid dysplasia
- first degree relative
What is NF2?
multiple menigiomas enpendymomas and schwannomas .
What is NF 2 inheritance pattern?
autosomal dominant
Who gets it?
adolescents
How does NF 2 present?
bilateral acoustic neuromata , deafness, cerebellopontine angle syndrome, facial nerve paresis and cerebellar ataxia
Associations of NF
MEN syndromes, pheo, pulm htn, renal artery stenosis
What is the prevalence of Tuberous Sclerosis?
1 in 9000 live births
What is the cause of TS?
autosomal dom mutations in the TSC 1 and 2 genes
Cutaneous manifestations of ts
depigmented Ash leaf shaped patches
amelanotic naevi ( fluorescence under UV light)
roughened patches of skin
angiofibromata
Ash leaf patches
TS
Woods light
TS amelanotic naevi that are flourescent under UV light
Shagreen patches
TS roughened patches of skin
Adenoma Sebaceum
TS angiofibromata, butterfly distribution
Neurological features of TS
infantile spasm and developmental delay epilepsy intellectual disability subependymal nodules ->giant cell astrocytomas ->hydrocephslus and cortical tubers
what percentage is the neurological signs seen in?
50%
What is port wine stain seen in?
Sturge webber syndrome
What is sturge webber syndrome
sporadic disorder with hemagiomatous facial lesions assoc with epilepsy intellectual distubances and contralateral hemiplegia
Which nerve does the port wine stain follow in distribution?
trigeminal nerve
what is the characteristic finding on XR for Sturge webber?
classic rail road track calcification of gyri
MRI more common now
What is a child at risk for with struge webber?
ipsilatera gaucoma in 50%
