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NeuroPhakomatoses

Roberta W. Dalley, M.D.University of Washington

PHAKOMATOSIS

• Neurocutaneous disorders

• Neuro-oculo-cutaneous syndromes• Neurofibromatosis Type 1

• Neurofibromatosis Type 2

• Sturge-Weber

• Tuberous Sclerosis

• Von Hippel-Lindau

• Ataxia Telangiectasia

• Wyburn-Mason

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Case #

30 yo male with hearing loss

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Diagnosis?

1. NF 1

2. NF 2

3. VHL

4. Sturge-Weber

5. Tuberous sclerosis

NF 2: Bilat. Schwannomas / Mult. Meningiomas

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NF 2: Bilateral Vestibular & CN V Schwannomas

Case #

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50 yo F with left arm pain

Diagnosis?

1. Neurofibroma

2. Breast CA mets

3. Traumatic neuroma

4. Schwannoma

5. Pseudomeningoceles

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Schwannomas

Case #

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25 yo male with spasticity in limbs

Diagnosis?

1. NF 1

2. Hemangioblastomas

3. VHL

4. Ependymomas

5. Neurosarcoidosis

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NF 2: String of Pearls Ependymomas

Case #

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37 yo female with headache

Diagnosis?

1. Tuberous sclerosis

2. Meningioma

3. Neurocytoma

4. Choroid plexus papilloma

5. VHL

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NF 2: IAC Schwannoma & Intraventricular Meningioma

NF 2: Scwannomas CN 5/8, Intraventricular Meningioma

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NEUROFIBROMATOSIS TYPE 2

• Loss of suppressor gene chrom 22• 1:50,000 prevalence

• MISME: Multiple Inherited Schwannomas, Meningiomas & Ependymomas

• No neurofibromas

Case #

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Diagnosis?

1. ?

Case #

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6 yo F with proptosis

Diagnosis?

1. Optic Glioma

2. Hemangioma

3. Optic Meningioma

4. Schwannoma

5. Hemangioblastoma

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NF1: Optic Nerve Glioma

NF 1: Optic Glioma with Hydrops Optic Sheath

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Reference

Dx

Case #

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1 yo male with proptosis

Diagnosis?

1. Buphthalmos

2. Plexiformneurofibroma

3. Sphenoid wing dysplasia

4. Myopia

5. All of the above

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NF1: Buphthalmos & Plexiform Neurofibroma

Reference

NF 1

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NEUROFIBROMATOSIS TYPE 1

• Long arm chrom 17 mutation: Neurofibromin 1 gene

• Autosomal dominant; 50% spontaneous

• Optic glioma

• Lisch Nodules

• Cutaneous neurofibromas

• Café au Lait spots

• Plexiform neurofibromas

Case #

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Reference

21 yo F with supraclavicular mass

Diagnosis?

1. Plexiform neurofibroma

2. Rhabdomyosarcoma

3. Breast metastasis

4. Liposarcoma

5. Fibromatosis

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Reference

NF 1: Brachial Plexus Plexiform Neurofibroma

NF 1: Plexiform Neurofibroma

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Reference

Brachial Plexus Neurofibroma

Reference

NF1: Plexiform Neurofibromas

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Diagnosis?

1. ?

Case #

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18 yo male with proptosis

Diagnosis?

1. Schwannomas

2. Pseudotumor

3. Venous malformation

4. Plexiformneurofibroma

5. Metastases

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NF 1: Plexiform Neurofibroma

Case #

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30 yo F with headaches

Diagnosis?

1. Platybasia

2. Epidermoid tumor

3. Dural ectasia

4. Arnold-Chiari II

5. Arachnoid cysts

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NF 1: Dural Ectasia

Case #

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Reference

40 yo male with neck mass and weight loss

Diagnosis?

1. Giant schwannoma

2. Neurofibromas

3. Neurofibrosarcoma

4. Rhabdomyosarcoma

5. Malignant fibrous histiocytoma

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Reference

NF 1: Neurofibrosarcoma

Reference

Plexiform Neurofibroma

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Reference

Plexiform Neurofibroma

Plexiform Neurofibroma

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TUBEROUS SCLEROSIS

• Bourneville’s Dz

• Skin: Adenoma sebacium• Papillary angiofibromas

• Renal: Angiomyolipomas-AML

• Lungs: Lymphangioleiomyomatosis-LAM

• Heart: Rhabdomyomas

Reference

Dx

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Case #

20 yo M with seizures

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Diagnosis?

1. Gray matter heterotopia

2. Tuberous sclerosis

3. Gliomatosis

4. NF 1

5. Racimose cystercercosis

Tuberous Sclerosis

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Tuberous Sclerosis

Case #

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Reference

46 yo m with chronic headaches

Diagnosis?

1. Giant cell astrocytoma

2. Choroid plexus papilloma

3. Neurocytoma

4. Ependymoma

5. Meningioma

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Reference

Tuberous Sclerosis: Giant Cell Atrocytoma

Tuberous Sclerosis: Giant Cell Atrocytoma

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Case #

31 yo F with ataxia

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Diagnosis?

1. Cystic metastasis

2. Hemangioblastoma

3. Cystic cerebellar astrocytoma

4. Cystercercosis

5. Neuroepithelial cyst

VHL: Hemangioblastoma with Cyst

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Reference

Dx

Case #

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Reference

28 yo F with ear ache

Diagnosis?

1. Vestibular schwanoma

2. Petrous ridge meningioma

3. Giant cell tumor

4. Aneuysmal bone cyst

5. Endolymphatic sac tumor

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Reference

VHL: Endolymphatic Sac Tumor

Case #

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Diagnosis?

1. ?

Reference

Dx

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Case #

Reference

40 yo male with leg & arm weakness

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Diagnosis?

1. Hemangioblastoma

2. Ependymoma

3. AVM

4. Meningioma

5. Paraganglioma

Reference

VHL Hemangioblastoma of Cord

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VHL: Hemangioblatoma of Cord

VHL: Hemangioblastomas and Syrinx

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VON HIPPEL-LINDAU DZ

Hemangioblastoma Pathology

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Case #

16 yo male with mental deficiency

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Diagnosis?

1. Leptomeningeal tumor

2. TB meningitis

3. Subarchnoid hemorrhage

4. CNS Lymphoma

5. Venous malformation

Sturge-Weber

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Reference

Sturge-Weber: Conjunctival Venous Malformation

Case #

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Reference

20 yo female with seizures

Diagnosis?

1. Laminar necrosis

2. Sturge-Weber

3. TORCH syndrome

4. XRT & Methotrexate

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Reference

Sturge-Weber

Sturge-Weber: Glaucoma & Retinal Detachment

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STURGE-WEBER SYNDROME

• Encephalotrigeminal angiomatosis

• Not hereditary

• Port-wine stain in trigeminal distribution

• Gyriform cortical calcification

• Leptomeningeal angioma

STURGE-WEBER SYNDROME

• Port-wine stain

• Mental retardation

• Seizures

• Glaucoma