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neurological_neurocutaneous syndromes (associations (epilepsy, learning…
neurological_neurocutaneous syndromes
neurofibromatosis type 1
(automsomal dominant)
diagnostic criteria (2/6)
axillary freckles
(iris) Lisch nodule
first-degree relative
(eye protrusion) sphenoid dysplasia
2 neurofibroma, optic glioma
6 café-au lait spots
(before puberty >5 mm, after puberty >15 mm)
associations
epilepsy, learning difficulties
MEN multiple endocrine neoplasia syndromes
renal artery stenosis
associations
austic spectrum disorder
epilepsy, learning difficulties
infantile spasm, developmental delay
tuberous sclerosis (autosomal dominant)
diagnostic criteria (2/6)
rhabdomyoma (heart)
subungal fibroma
phakoma (retina)
(face) adenoma sebaceum
(depigmented) ash-leaf patches
(rough) shagreen patches
Sturge-Weber syndrome
clinical features
port-wine stain (trigeminal nerve: opthalmic nerve)
rail-road track calcifications of gyri
associations
glaucoma
hemiplegia
epilepsy, learning difficulties
neuro & cutan: ectoderm