Phakomatoses

Question 1

Sturge-Webber (non eye findings)

Answer 1

• leptomeningeal vascular malformations
• central calcifications
• mental retardation
• pheochromocytoma

Question 2

klippel trenaunay webber

Answer 2

Variant of Sturge weber with cutaneous nevus flammeus, hemangiomas, varicosities, intracranial angiomas, and hemihypertrophy of limbs

Question 3

Von Hippel Lindau

Answer 3

AD, incomplete penetrance

Hamartomas: eye, brain, kidney/adrenals

Eye: retinal angioma (fed by dilated vessel). Vessel can leak. Treat the leak, not the lesion. May be multi focal, bilateral.

Brain: CNS tumors (hemangioblastoma of cerebellum, pons, medulla, spinal cord)

Kidney: tumor of kidney, pancreas, liver, adrenals. 25% RCC, 5% pheochromocytoma

Question 4

Tuberous sclerosis

Answer 4

AD or sporadic

Triad: adenoma sebaceum, MR, epilepsy

Astrocytoma of retina or optic nerve (giant drusen)

Facial adenoma sebaceum
Ash leaf spots (fluoresce under woods light)
Shagreen patches
Periungal fibromas

CNS: subependymal hamartomas, MR, Sz

Other: cardiac rhabdomyoma, spontaneous pneumothorax from pleural cysts, renal angiomyolipomas, pheo

Question 5

Inheritance pattern of the phakomatoses?

Answer 5

All are AD with incomplete penetrance except:

• Sturge weber (sporadic)
• ataxia telangiectasia (AR)
• wyburn mason (non-hereditary)

Question 6

Wyburn Mason

Answer 6

Aka racemose hemangiomatosis

• racemose hemangioma of retina (AV malformation with markedly dilated and tortuous shunt vessels)
• may have intraocular Hx or glaucoma
• may have brain AV malformations, of orbit and facial bones, and small facial hemangiomas

Question 7

Ataxia Telangectasia

Answer 7

AR

• prominent, dilated conj vessels. Impaired convergence, nystagmus, oculomotor apraxia
• cutaneous telangiectasia in butterfly pattern
• MR
• cerebellar ataxia (cerebellar atrophy)
• defective T cells and IgA deficiency (infections)
• blood malignancy (leukemia, lymphoma)

Question 8

NF1: 7 diagnostic criteria

Answer 8

Need 2:

• first degree relative
• freckling of intertifinous areas
• 2 lisch nodules
• optic nerve glioma
• 2 neurofibromas or 1 plexiform neurofibroma
• osseous lesion
• 6 cafe au lait spots (5 mm pre-pubescent, 15 mm post pubescent)

Question 9

What is a lisch nodule

Answer 9

Glial or melanocytic iris hamartoma

Question 10

Which condition gives you pulsating exophthalmos

Answer 10

NF1, absence of sphenoid wing

Question 11

Which phakomatosis gives you prominent corneal nerves

Answer 11

NF1

Question 12

Which phakomatoses can give you pheochromocytoma

Answer 12

• Sturge weber
• Von Hippel Lindau
• tuberous sclerosis
• NF2

Question 13

Can you have Lisch nodules in Nf2

Answer 13

No

You have:

• bilateral CPA tumors (acoustic neuroma)
• 1st degree relative with NF2 and either a unilateral acoustic neuroma or 2 of: meningioma, schwannoma, neurofibroma, glioma, PSC cataract

Think about pheo and other malignant tumors

Question 14

Describe Sturge-Webber (eye findings)

Answer 14

Non hereditary

Port wine stain (nevus flammeus)

• dilated conj and episcleral vessels
• cong or juvenile glaucoma (25%, esp if upper lid involved)
• iris heterochromia (iris angiomas)
• cb angiomas
• diffuse cavernous choroidal hemangioma (tomato ketchup)