Neuro

Question 1

Tuberous Sclerosis

Answer 1

• Auto dominant
• Neuro - seizures, developmental delay
• CNS - subependymal nodules or subependymal giant cell tumors, glioneuronal hamartomas
• Derm - ash leaf spots (hypopigmented macules), facial angiofibromas (red papules esp on face), fibrous brown plaques on forehead, shagreen patches on lower back/torso (connective tissue nevus)
• Ungal fibromas (in nail bed)
• Cardiac hamartomas - benign
• Also renal, optic and pulmonary manifestations

Question 2

NF-1

Answer 2

• Auto dominant (NF1 gene on chromosome 17)
• Cafe-au-lait spots, allay freckling, peripheral neurofibromas (peripheral nerve sheath tumors - benign), optic gliomas, Lisch nodules in iris
• Inc risk soft tissue sarcomas, inc risk astrocytomas and gliomas too
• Associated w/ cognitive impairment - 60% have learning disability, 5% w/ sz

Question 3

NF-2

Answer 3

• Auto dominant
• Bilateral hearing loss/ bilateral acoustic neuromas,
  Schwanomas (may be in SC), other CNS tumors
• Less likely to have cafe au lait spots, no Lisch nodules
• Not associated with cognitive impairment

Question 4

Sturge-Weber

Answer 4

• Port wine stain (in ophthalmic branch of trigeminal distribution) + angiofibromas of CNS and eyes (AKA vascular anomalies in brain)
• May have glaucoma or neuro sx
• Tx - laser for face, anti-convulsants if sz, ASA to prevent stroke