1. What is the diagnosis?

A. Von Hippel Lindau

B. NF-1

C. NF-2

D. Tuberous Sclerosis

2. Unlike NF-1, NF-2 is NOT associated with?

A. Schwannomas

B. Meningiomas

C. Ependymomas

D. Neurofibromas

3. Which of the following is associated with NF-1?

A. Bilateral Vestibular Schwannomas

B. Giant Cell Tumors of the Humerus

C. Lateral Thoracic Meningocele

D. Cardiac Rhabdomyomas

4. NF-1 Patients get Optic Nerve Gliomas, these are typically’

A. Higher Grade than those that occur sporadically

B. Lower Grade than those that occur sporadically

C. Equal Grade compared to those that occur sporadically

D. NF-1 Patients never get optic nerve gliomas

Answers:

1. What is the diagnosis?

A. Von Hippel Lindau

B. NF-1

C. NF-2

D. Tuberous Sclerosis

2. Unlike NF-1, NF-2 is NOT associated with?

A. Schwannomas

B. Meningiomas

C. Ependymomas

D. Neurofibromas

3. Which of the following is associated with NF-1?

A. Bilateral Vestibular Schwannomas

B. Giant Cell Tumors of the Humerus

C. Lateral Thoracic Meningocele

D. Cardiac Rhabdomyomas

4. NF-1 Patients get Optic Nerve Gliomas, these are typically______?

A. Higher Grade than those that occur sporadically

B. Lower Grade than those that occur sporadically

C. Equal Grade compared to those that occur sporadically

D. NF-1 Patients never get optic nerve gliomas

Neurofibromatosis type 2

  • Rare Autosomal Dominant
  • Neurocutaneous Disorder.

Key features

“MISME” – Multiple inherited Schwannomas Meningiomas and Ependymomas

– Neurofibromas are NOT part of the NF-2 spectrum, making the name a misnomer.

– The finding of a meningioma in a child should raise the question of NF-2.

– Ependymomas associated with NF-2 are typically spinal (not intracranial).

– Schwannomas associated with the NF-2 usually involve the vestibular branch of CN8.

THE OTHER PHAKOMATOSES – Key features

NF-1

There are multiple associations that are testable including:

– Sphenoid Wing Dsyplasia

– Plexiform Neurofibromas

– Bad Scoliosis

– Renal Vascular Hypertension

– Lateral Thoracic Meningoceles***

– Pseudoarthrosis of the Fibula

The optic nerve gliomas seen with NF-1 are typically WHO Grade 1 JPAs. The optic nerve gliomas seen in the wild are typically WHO Grade 4 GBMs (which fucking destroy you).

Tuberous Sclerosis

– In the Brain – Think Cortical Tubers, Subependymal Tubers, and Subependymal Giant Cell Astrocytomas (SGCA).

– Renal AMLs – Tend to be large, multiple and bilateral

– Lungs – Lymphangioleiomyomatosis (LAM). Thin walled cysts + Chylous Pleural Effusions.

– Cardiac Rhabdomyomas – Typically involve the ventricular septum, and nearly all occur before l year of age.

Von Hippel Lindau

– In the Brain – Think Hemangioblastomas (cyst and nodule), and Endolymphatic sac tumors (temporal bone thing, more on this later).

– In the Abdomen –

– Think “Lots of Cysts. ” Cysts in the kidneys, cysts in the liver, simple cysts in the pancreas, Serous “Cyst”adenomas in Pancreas.

– Then some tumors too: Pheochromocytomas, and Bilateral Clear Cell RCCs.

Cowden Syndrome

  • Bowel Hamartoma + BREAST CANCER + Lhermitte Duclos (Dysplastic Cerebellar Gangliocytoma).
  • Lhermitte Dulcos – Striated nonenhancing cerebellar tumor, that does NOT cross the midline.

Gorlin Syndrome

  • This one has tons of features, but the ones I would remember are:
    • Multiple Odontogenic Cysts + Massive Falx Cerebri
    • Calcifications + Medulloblastoma
  • The reason there is any clinical utility to knowing this at all is that when they get radiation for their medulloblastoma they develop LOTS OF BASAL CELLS