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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
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