Neurocutaneous disorders

1. Neurocutaneous Disorders

2. Neurocutaneous Disorders
Neuro
• seizure
• intracranial tumor
• nerve sheath, root
tumor
• polyneuropathy
• vasculopathy
• macrocephaly
• learning disability
• UBOs
Diagnosis
• 2 or more of:
– 6 or more café au lait
macules
– FHx in 1st degree relative
– 2 or more neurofibromas
OR 1 plexiform neurofib
– optic glioma
– lisch nodules
– osseous lesion
Neurofibromatosis 1/von Recklinghausen disease

3. NF1
Other
• Ocular
– optic gliomas
– lisch nodules
• Skeletal
– scoliosis
– pseudoarthrosis
– sphenoid dysplasia
• HTN, renovascular
café au lait macules
neurofibroma
plexiform neurofibromas
Cutaneous
axillary
freckling

4. Neurofibromatosis 2
Neuro
• acoustic
neuromas
• spinal tumors
• meningiomas
• mononeuropathy
Cutaneous
• café au lait macules
• intracutaneous tumors
• subcutaneous nodules
• skin plaques
Other
• Ocular:
• posterior
subcapsular lens
opacities
• retinal hamartoma
• epiretinal
membrane

5. Tuberous Sclerosis
Neuro
• cortical tubers
• subependymal nodules
• giant cell tumors
• white mater heterotopia
• Seizures (90%)
– infantile spasms
(50%)
• ID, DD
• behavioral concerns
Diagnosis
• TSC1, TSC2
• Major, Minor criteria
• Definite
– 2 major
– 1 major + 2 minor
• Probable
– 1 major + 1 minor
• Possible
– 1 major
– 2 or more minor
Other
• Ocular
• retinal hamartomas
• achromic patches
• Cardiac
• atrial rhabdo
• Renal
• angiomyolipomas
• Lung
• lymphangioleiomyomatosis
(LAM)

6. TS
Shagreen patch
periungual fibroma
hypomelanotic macule
facial angiofibromas
Cutaneous

7. Sturge-Weber Syndrome
Neuro
• Seizures
– focal  generalized tonic
clonic
• Leptomeningeal angioma
– pia mater
– IL to port wine stain
– MC occipital and parietal
areas affected
• Hypoperfusion injury
• ID, DD
• Progressive

8. Sturge-Weber
Other
• Ocular
– visual field defects
– glaucoma
– other vascular
anomalies
– IL heterochromic
iris
• GH deficiency
• central hypothyroidism
Cutaneous
• Port Wine Stain
– 10% incidence of
SWS
– Hemifacial
hemangioma
– CN5
– progressive

9. THANK YOU