Neuro - Weird diseases Flashcards

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1
Q

Sturge Weber

A

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

Affects small capillary sized vessels leading to port wine stain on the face.
Seizures and epilepsy.
Intellectual disability.

Remember STURGE-Weber
Sporadic / Port wine STAIN
Tram track Ca2+
Unilateral
Retardation
Glaucoma /GNAQ
Epilepsy
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2
Q

Tuberous sclerosis

A
HAMARTOMAS
Hamartomas in CNS and skin
Angiofibromas
Mitral regurgitation
Ash-leaf spots
Cardiac rhabdomyoma
Tuberous sclerosis
Autosomal dominant
Mental retardation
Renal angiomiolipoma
Seizure
Shagreen patches

Incidence subendymal astrocytoma and ungual fibroma

Remember nature theme: tubers, ash trees, rhubarb

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3
Q

Neurofibromatosis Type I

A

Von Recklinghausen Disease
Remember that there are 17 letters in Von Recklinghousen and this is on chromosome 17.

Cafe au lait spots. Lisch nodules / pigmented iris hamartomas. Neurofibromas in skin, optic gliomas, pheochromocytomas.

Mutated NF1 tumor suppresor gene / neurofibromin, a negative regulator of Ras

Skin tumors of NF1 are derived from neural crest cells.

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4
Q

Von Hippel Lindau disease

A

Cavernous hemangiomas in skin, mucosa, organs
Bilateral renal cell carcinomas
Hemangioblastoma - high vascularity with hyperchromatic nuclei - in retina, brain stem, cerebellum
Pheochromocytoma

Picture an agitated hippo with bleeding eyes eating kidney beans.

Autosomal dominant.
Mutated VH tumor suppressor gene on chromosome 3 (VHL has 3 words).

This results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors.

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