Neuro - Pathology (Neurocutaneous disorders) Flashcards Preview

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Flashcards in Neuro - Pathology (Neurocutaneous disorders) Deck (13)
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1
Q

What are 4 examples of Neurocutaneous disorders?

A

(1) Strurge-Weber syndrome (2) Tuberous sclerosis (3) Neurofibromatosis type I (von Recklinghausen disease) (4) von Hippel-Lindau disease

2
Q

What kind of anomaly is Sturge-Weber syndrome? What is its associated defect?

A

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

3
Q

What are 4 key signs/symptoms associated with Sturge-Weber syndrome?

A

(1) Affects small (capillary-sized) blood vessels –> port-wine staining of the face (non-neoplastic “birthmark in CN V1/V2 distribution) (2) Ipsilateral leptomeningeal angioma –> seizures/epilepsy (3) Intellectual disability (4) Episcleral hemangioma –> high IOP –> early-onset glaucoma

4
Q

What is a mnemonic to remember key associations to make with Sturge-Weber syndrome?

A

STURGE-Weber: Sporadic, port-wine Stain; Tram track Ca2+ (opposite gyri); Unilateral; Retardation; Glaucoma, GNAQ gene; Epilepsy

5
Q

What are 9 key associations to make with Tuberous sclerosis?

A

HAMARTOMAS: (1) Hamartomas in CNS and skin (2) Angiofibromas (3) Mitral regurgitation (4) Ash-leaf spots (5) cardiac Rhabdomyoma… [Tuberous sclerosis]… (6) autosomal dOminant (7) Mental retardation (8) renal Angiomyolipoma (9) Seizures, Shagreen patches

6
Q

What are 2 types of masses that have higher incidence in Tuberous sclerosis patients?

A

Increased incidence of subependymal astrocytomas and ungual fibromas

7
Q

What is another name for Neurofibromatosis type I?

A

Neurofibromatosis type I (von Recklinghausen disease)

8
Q

What are 3 signs/symptoms associated with Neurofibromatosis type I (von Recklinghausen disease)? What are 2 types of masses also associated with this disorder?

A

Cafe-au-lait spots, Lisch nodules (pigmented iris hamartomas), neurofibromas in skin… Optic gliomas, pheochromocytomas

9
Q

What is the genetic defect of Neurofibromatosis type I (von Recklinghausen disease)?

A

Mutated NF1 tumor suppressor gene (neurofibromin, a negative regulator of Ras) on chromosome 17

10
Q

From where are the skin tumors of NF-1 derived?

A

Skin tumors of NF-1 are derived from neural crest cells.

11
Q

What are the 4 types of masses associated with von Hippel-Lindau disease?

A

(1) Cavernous hemangiomas in skin, mucosa, organs; (2) Bilateral renal cell carcinomas; (3) Hemangioblastoma (high vascularity with hyperchromatic nuclei) in retina, brain stem, cerebellum; (4) Pheochromocytomas

12
Q

What is the mode of inheritance for von Hippel-Lindau disease?

A

Autosomal dominant

13
Q

What is the pathogenesis of von Hippel-Lindau disease?

A

Autosomal dominant; mutated VHL tumor suppressor gene on chromosome 3, which results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors

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