Peds Neruo - Neurocutaneous/Phakomatoses

Question 1

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

Answer 1

Ataxia-Telengiectasia

Question 2

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

Answer 2

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

Question 3

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

Answer 3

AD, Chrom 9, Endoglin gene

Question 4

What neurocutaneous disorder is associated with leukemia?

Answer 4

Ataxia-telangiectasia

Question 5

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

Answer 5

Sturge Weber Syndrome

Question 6

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

Answer 6

Tuberous Sclerosis

Question 7

What neurocutaneous disorder is associated with insulin-resistant diabetes?

Answer 7

Ataxia-Telangiectasia

Question 8

What neurocutaneous disorder is pulmonary lymphangiomyomatosis associated with?

Answer 8

Tuberous Sclerosis

Question 9

What neurocutaneous disorder is associated with eosinophilia?

Answer 9

Incontinentia pigmenti

Question 10

What is the presumed genetic cause for Sturge Weber?

Answer 10

mosaic mutation in GNAQ gene

Question 11

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

Answer 11

Parenchymal Calification

Question 12

What neurocutaneous disorder is thymine hypoplasia associated with?

Answer 12

Ataxia-telangiectasia

Question 13

What is the pathognomonic finding for NF2?

Answer 13

Bilateral CNVIII schwannomas

Question 14

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

Answer 14

Osler-Weber-Rendu (Hereditary Hemorrhagic Telangiectasia)

Question 15

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

Answer 15

Chediak-Higashi Syndrome (AR)

Question 16

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

Answer 16

Ataxia Telengiectasia

Question 17

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

Answer 17

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

Question 18

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

Answer 18

Incontinentia pigmenti

Question 19

What neurocutaneous disorder is ash-leaf associated with?

Answer 19

Tuberous Sclerosis

Question 20

What neurocutaneous disorder is ungum fibromas associated with?

Answer 20

Tuberous Sclerosis

Question 21

What neurocutaneous disorder is shagreen patch associated with?

Answer 21

Tuberous Sclerosis

Question 22

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

Answer 22

Olser Weber Rendu Disease

Question 23

What are the CNS histology findings of tuberous sclerosis?

Answer 23

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

Question 24

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

Answer 24

Ataxia Telangiectasia

Question 25

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

Answer 25

Sturge Weber

Question 26

What is the danger of subependymal giant cell astrocytomas?

Answer 26

Obstruction of the foramen of Monroe | Treatable with rapamycin

Question 27

``` NF1 or NF2: Cafe at lait spots Neurofibromas Acoustic Schwannomas Lisch nodules Axillary Freckling Optic Glioma Plexiform neurofibromas Meningioma ```

Answer 27

``` 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 ```

Question 28

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

Answer 28

Sneddon Syndrome

Question 29

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

Answer 29

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

Question 30

What neurocutaneous syndrome is associated with Leptomeningeal angiomatosis?

Answer 30

Sturge Weber

Question 31

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

Answer 31

AD, Chrom 3

Question 32

What is the inheritance pattern for incontinentia pigmenti?

Answer 32

X-linked dominant; lethal to males

Question 33

What neurocutaneous disorder is heamngioblastoma of the cerebellum associated with?

Answer 33

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

Question 34

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

Answer 34

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