Fa: Neurology - Pathology - 2

Front 1

What is the sensation of spinning while actually stationary?

Back 1

Vertigo
- Subtype of "dizziness" but distinct from "lightheadedness"

Front 2

What are the types of vertigo? Which is more common?

Back 2

- Peripheral vertigo (more common)
- Central vertigo

Front 3

What causes peripheral vertigo?

Back 3

Inner ear etiology (eg, semicircular canal debris, vestibular nerve infection, Ménière disease

Front 4

What causes central vertigo?

Back 4

Brain stem or cerebellar lesion (eg, stroke affecting vestibular nuclei or posterior fossa tumor)

Front 5

What are the findings in peripheral vertigo?

Back 5

Positional testing → delayed horizontal nystagmus

Front 6

What are the findings in central vertigo?

Back 6

- Directional change of nystagmus
- Skew deviation
- Diplopia
- Dysmetria
- Postional testing → immediate nystagmus in any direction; may change directions
- Focal neurological findings

Front 7

What disease is characterized by a port-wine stain of the face, seizures/epilepsy, intellectual disability, and early-onset glaucoma?

Back 7

Sturge-Weber Syndrome

STURGE:
- Sporadic port-wine Stain
- Tram track Ca2+ (opposing gyri)
- Unilateral
- Retardation
- Glaucoma and GNAQ gene
- Epilepsy

Front 8

What is the cause of Sturge-Weber Syndrome?

Back 8

- Congenital, non-inherited (somatic), developmental anomaly of neural crest derivatives (mesoderm/ectoderm)
- Due to activating mutation of GNAQ gene

Front 9

What causes the port-wine stain seen in Sturge-Weber Syndrome?

Back 9

Small (capillary-sized) blood vessels have developmental anomalies → port-wine stain of face (non-neoplastic "birthmark" in CN V1/V2 distribution)

Front 10

What causes the seizures/epilepsy seen in Sturge-Weber Syndrome?

Back 10

Ipsilateral leptomeningeal angioma → seizures / epilepsy

Front 11

What causes the glaucoma in Sturge-Weber Syndrome?

Back 11

Episcleral hemangioma → ↑ intraocular pressure → early onset glaucoma

Front 12

What genetic change causes Sturge-Weber Syndrome?

Back 12

Activating mutation of GNAQ gene

Front 13

What disease causes hamartomas in the CNS and skin, angiofribromas, mitral regurgitation, ash-leaf spots, cardiac rhabdomyoma, mental retardation, renal angiomyolipoma, seizures, and Shagreen patches?

Back 13

Tuberous Sclerosis

Front 14

What mnemonic helps you remember the characteristics of Turberous Sclerosis?

Back 14

HAMARTOMAS:
- Hamartomas in CNS and skin
- Angiofibromas (C)
- Mitral regurgitation
- Ash-leaf spots
- Rhabdomyoma (cardiac)
- Tuberous sclerosis
- autosomal dOminant
- Mental retardation
- Angiomyolipoma (renal) (D)
- Seizures and Shagreen patches

Front 15

What is there increased incidence of in Turberous Sclerosis?

Back 15

- Subependymal astrocytomas
- Ungual fibromas

Front 16

Which disease is associated with café-au-lait spots, Lisch nodules, neurofibromas in the skin, optic gliomas, and pheochromocytomas?

Back 16

Neurofibromatosis Type 1 (von Recklinghausen disease)

Front 17

What is the cause of Neurofibromatosis Type 1 (von Recklinghausen disease)?

Back 17

- Mutated NF1 tumor suppressor gene (neurofibromin - a negative regulator of Ras)
- On chromosome 17

Front 18

What does a mutated NF1 tumor suppressor gene (chr 17) cause? Clinical symptoms?

Back 18

Neurofibromatosis Type 1 (von Recklinghausen disease)
- Café-au-lait spots (E)
- Lisch nodules (pigmented iris hamartomas) (F)
- Neurofibromas in skin
- Optic gliomas
- Pheochromocytoma

Front 19

What are skin tumors of NF-1 derived from?

Back 19

Neural crest cells

Front 20

What disease is associated with cavernous hemangiomas in skin, mucosa, and organs; bilateral renal cell carcinomas; hemangioblastoma in retina, brain stem, cerebellum; and pheochromocytoma?

Back 20

von Hippel-Lindau Disease

Front 21

What is the cause of von Hippel-Lindau Disease?

Back 21

- Autosomal dominant mutation in VHL tumor suppressor gene on chr 3
- Results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors

Front 22

What disease is caused by the autosomal dominant mutation in the VHL tumor suppressor gene on chr 3? What does this mutation cause?

Back 22

von Hippel-Lindau Disease
- Mutation results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors
- Cavernous hemangiomas in skin, mucosa, and organs
- Bilateral renal cell carcinoma
- Hemangioblastoma (high vascularity with hyperchromatic nuclei (G)) in retina, brainstem, and cerebellum (H)
- Pheochromocytoma

Front 23

Where are there cavernous hemangiomas in von Hippel-Lindau Disease?

Back 23

- Skin
- Mucosa
- Organs

Front 24

Where are there hemangioblastomas in von Hippel-Lindau Disease?

Back 24

- Retina
- Brainstem
- Cerebellum

Front 25

What is wrong with this little girl? Associated with what disease?

Back 25

Port-wine stain on face
- Caused by Sturge Weber Syndrome

Front 26

What is wrong with this brain? Associated with what disease?

Back 26

Ipsilateral leptomeningeal angioma → seizures / epilepsy
- Caused by Sturge Weber Syndrome

Front 27

What is wrong with this little boy? Associated with what disease?

Back 27

Angiofibromas of the face
- Caused by Tuberous Sclerosis

Front 28

What aspect of Tuberous Sclerosis has this histology?

Back 28

Renal Angiomyolipoma

Front 29

What is this skin finding? Associated with what disease?

Back 29

Café-au-lait spot
- Caused by Neurofibromatosis type I (von Recklinghausen disease)

Front 30

What is this eye finding? Associated with what disease?

Back 30

Lisch nodule (pigmented iris hamartoma)
- Caused by Neurofibromatosis type I (von Recklinghausen disease)

Front 31

What aspect of von Hippel Lindau disease has this histology?

Back 31

Hemangioblastomas (high vascularity with hyperchromatic nuclei)

Front 32

What is this brain finding? Associated with what disease?

Back 32

Hemangioblastoma in cerebellum
- Caused by von Hippel Lindau disease

Front 33

What are the adult primary brain tumors?

Back 33

- Glioblastoma multiforme (grade IV astrocytoma)
- Meningioma
- Hemangioblastoma
- Schwannoma
- Oligodendroglioma
- Pituitary adenoma

Front 34

What tumor is found in the cerebral hemispheres and is known for crossing the corpus callosum?

Back 34

Glioblastoma Multiforme (grade IV astrocytoma)

Front 35

What is the prognosis of Glioblastoma Multiforme (grade IV astrocytoma)? How common?

Back 35

- Common, in adults
- Highly malignant with ~1 year median survival

Front 36

What is the appearance of a Glioblastoma Multiforme (grade IV astrocytoma)?

Back 36

- Found in cerebral hemispheres
- Can cross corpus callosum ("butterfly glioma")

Front 37

What adult primary brain tumor will stain positively for GFAP? Why?

Back 37

Glioblastoma Multiforme (grade IV astrocytoma) - astrocytes are stained with GFAP

Front 38

What is the histologic appearance of Glioblastoma Multiforme (grade IV astrocytoma)?

Back 38

"Pseudopalisading" pleomorphic tumor cells - border central areas of necrosis and hemorrhage