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Neurology Boards > Peds Neruo - Neurocutaneous/Phakomatoses > Flashcards

Peds Neruo - Neurocutaneous/Phakomatoses Flashcards

1
Q 
What neurocutaneous syndrome is this? 
Progressive cerebellar ataxia
Oculocutaneous telangiectasia
Recurrent infections 
Increased risk of cancer
A

Ataxia-Telengiectasia

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2
Q

What pattern of inheritance, gene, chromosome, and protein is associated with NF1?

A

AD, NF1-2 gene, Chrom 17, Neurofibromin (GTP-ase activating protein, suppress cell growth under normal conditions)

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3
Q

What pattern of inheritance, gene, and chromosome is associated with Osler-Weber-Rendu?

A

AD, Chrom 9, Endoglin gene

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4
Q

What neurocutaneous disorder is associated with leukemia?

A

Ataxia-telangiectasia

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5
Q

What neurocutaneous syndrome presents with port wine stain, epilepsy, MR, hemiplegia?

A

Sturge Weber Syndrome

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6
Q

What neurocutaneous disorder is facial angiofibromas (adenoma sebaceous) associated with?

A

Tuberous Sclerosis

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7
Q

What neurocutaneous disorder is associated with insulin-resistant diabetes?

A

Ataxia-Telangiectasia

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8
Q

What neurocutaneous disorder is pulmonary lymphangiomyomatosis associated with?

A

Tuberous Sclerosis

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9
Q

What neurocutaneous disorder is associated with eosinophilia?

A

Incontinentia pigmenti

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10
Q

What is the presumed genetic cause for Sturge Weber?

A

mosaic mutation in GNAQ gene

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11
Q

What neurocutaneous disorder is associated with periventricular califications described as train tracks)?

A

Parenchymal Calification

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12
Q

What neurocutaneous disorder is thymine hypoplasia associated with?

A

Ataxia-telangiectasia

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13
Q

What is the pathognomonic finding for NF2?

A

Bilateral CNVIII schwannomas

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14
Q

What neurocutaneous disorder is associated with telangiectasia, AVMs, aneurysms of brain/spinal cord, ataxia?

A

Osler-Weber-Rendu (Hereditary Hemorrhagic Telangiectasia)

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15
Q

What neurocutaneous syndrome is associated with defective pigmentation and peripheral neuropathy?

A

Chediak-Higashi Syndrome (AR)

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16
Q

What neurocutaneous disorder is associated with elevated alpha-fetoprotein and carcinoembryonic antigen?

A

Ataxia Telengiectasia

17
Q

What pattern of inheritance, gene, chrom for Ataxia-telenagiectasia?

A

AR, Chrom 11, ATM gene (detects damaged DNA)

18
Q

What neurocutaneous disorder is associated with linear skin lesions progressing to whorls?

A

Incontinentia pigmenti

19
Q

What neurocutaneous disorder is ash-leaf associated with?

A

Tuberous Sclerosis

20
Q

What neurocutaneous disorder is ungum fibromas associated with?

A

Tuberous Sclerosis

21
Q

What neurocutaneous disorder is shagreen patch associated with?

A

Tuberous Sclerosis

22
Q

What neurocutaneous syndrome is assocaited with white forelock and depigmented patches with spots of hyperpigmentation?

A

Olser Weber Rendu Disease

23
Q

What are the CNS histology findings of tuberous sclerosis?

A
  1. Cortical tubers - found in cortex, ganglia, ventricles
  2. Subependymal hamartomas
  3. Subependymal giant cell astrocytomas
  4. Paraventricular calcifications
24
Q

What neurocutaneous disorder is associated with ovarian agenesis, testicular hypoplasia?

A

Ataxia Telangiectasia

25
Q

What neurocutaneous disorder is associated with Trigeminocranial angiomatosis with cerebral calcifications?

A

Sturge Weber

26
Q

What is the danger of subependymal giant cell astrocytomas?

A

Obstruction of the foramen of Monroe

Treatable with rapamycin

27
Q 
NF1 or NF2: 
Cafe at lait spots 
Neurofibromas 
Acoustic Schwannomas
Lisch nodules 
Axillary Freckling
Optic Glioma
Plexiform neurofibromas 
Meningioma
A 
NF1 or NF2: 
Cafe at lait spots - NF1
Neurofibromas - NF1>NF2
Acoustic Schwannomas- NF2
Lisch nodules (pigmented hamartomas of the iris)- NF1>NF2
Axillary Freckling - NF1
Optic Glioma - NF1
Plexiform neurofibromas - NF1
Meningioma - NF2
28
Q

What neurocutaneous disorder is associated with livedo reticular is and strokes?

A

Sneddon Syndrome

29
Q

What is the pattern of inheritance, gene, chromosome, protein for NF2?

A

NF-2 gene, Chrom 22, Merlin protein (tumor suppressor)

30
Q

What neurocutaneous syndrome is associated with Leptomeningeal angiomatosis?

A

Sturge Weber

31
Q

What pattern of inheritance and chromosome is associated with Von-Hippel Lindau?

A

AD, Chrom 3

32
Q

What is the inheritance pattern for incontinentia pigmenti?

A

X-linked dominant; lethal to males

33
Q

What neurocutaneous disorder is heamngioblastoma of the cerebellum associated with?

A

Von Hippel Lindau Syndrome

*This syndrome has lots of systemic manifestations: renal cell carcinoma, hepatic/pancreatic cysts, polycthemia, pheochromocytoma

34
Q

What pattern of inheritance, genes, chroms, proteins for tuberous sclerosis?

A

AD mutation
TSC1, Chrom 9, Hamartin Protein
TSC2, Chrom 16, Tuberin Protein

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