Pediatric Neurology

Question 1

Inborn Error of Metabolism: Name 3 disease with enlarged brain

Answer 1

Canavan Disease
Alexander
Tay Sach

Question 2

Gene affected in Lissencephaly with cerebellar hypoplasia

Answer 2

RELN/ humal reelin gene

Question 3

2 genes that modify microtubular function in Lissencephaly

Answer 3

LIS 1

Doublecortin/DCX

Question 4

Cerebellar vermian hypoplasia with cystic enlargement of fourth ventricle

Answer 4

Dandy Walker syndrome

Question 5

Characterized as erythema, blistering, scaling upon exposure to sunlight

Answer 5

Xeroderma pigmetosum

Question 6

Xeroderma pigmentosum: mechanism of disorder

Answer 6

Faulty repair of DNA

Question 7

AED associated with dysraphism/ rachischisis

Answer 7

Valproic acid and carbamazepine

Question 8

greatest risk factor in developing spina bifida

Answer 8

Previous pregnancy with spina bifida (30-fold)

Question 9

2 common complications of meningomyelocele

Answer 9

Meningitis and hydrocephalus from CHiari malformation

Question 10

Tethered cord: presentation

Answer 10

urinary incontinence and urgency, numbness of feet and legs, foot drop

Question 11

Tethered cord: cause

Answer 11

congenital cyst or tumors (lipoma and dermoid) that arise in the film terminal and attach the cord to the sacrum

Question 12

A congenital abnormality of the occipital bone that invaginated the posterior atlas into the cranial cavity

Answer 12

basilar impression

Question 13

Abnormality in Fragile X syndrome

Answer 13

unstable CGG repeats in X chromosome which inactivates FMR1 gene that codes for an RNA binding protein

Question 14

Gray or yellow plaques found in the retina in or near the optic disc

Answer 14

phakoma

Question 15

What are Angiomyolipomas?

Answer 15

benign tutors of mixed cell type seen in Tuberous Sclerosis

Question 16

2 abnormal genes in TUberous Sclerosis

Answer 16

TSC 1 (Hamartin): chromosome 9
TSC 2 (Tuberin): chromosome 16

Question 17

Also known as Burnsville Disease

Answer 17

Tuberous Sclerosis

Question 18

Gray- white specks of depigmentation seen in irides of patients with Down SYndrome

Answer 18

Brushfield spots

Question 19

Trisomy 21?
Trisomy 13?
Trisomy 18?

Answer 19

21: Down
13: Patau
18: Edwards

Question 20

What mutation is associated with Cri-du-chat?

Answer 20

deletion of chromosome 5

Question 21

what is mTOR: Mammalian target of rapamycin

Answer 21

cell size control pathway activated in tubers of Tuberous Sclerosis

Question 22

Name 2 mTOR inhibitors

Answer 22

Sirolimus

Everolimus

Question 23

Which mTOR inihibitor is best used for status epileptics in patients with tuberous sclerosis?

Answer 23

Everolimus

Question 24

Chromosome and gene affected in NF-1

Answer 24

Chromosome 17

Neurofibromin

Question 25

Chromosome and gene affected in NF-2

Answer 25

Chromosome 22

Merlin gene or Schwannomin

Question 26

Small whitish spot/ hamartoma in the iris seen in NF-1

Answer 26

Lisch nodule

Question 27

How many percent of NF develop malignant degeneration?

Answer 27

2 to 5%
Peripherally become sarcoma
Centrally become astrocytoma or glioblastoma

Question 28

Also known as Louis Bar SYndrome

Answer 28

Ataxia- Telangiectasia

Question 29

Pathogenesis of Ataxia Telangiectasia

Answer 29

aDefective ATM gene: which is a kinase that is a transducer in the pathway of DNA repair. A defect greatly increases the risk for lymphoma, leukaemia

Question 30

What developmental disorder has a defect in X chromosome presenting with mental regression, appearance of handwringing and other stereotyped hand movements

Answer 30

Rett Syndrome