Pediatric Neurology Flashcards
Inborn Error of Metabolism: Name 3 disease with enlarged brain
Canavan Disease
Alexander
Tay Sach
Gene affected in Lissencephaly with cerebellar hypoplasia
RELN/ humal reelin gene
2 genes that modify microtubular function in Lissencephaly
LIS 1
Doublecortin/DCX
Cerebellar vermian hypoplasia with cystic enlargement of fourth ventricle
Dandy Walker syndrome
Characterized as erythema, blistering, scaling upon exposure to sunlight
Xeroderma pigmetosum
Xeroderma pigmentosum: mechanism of disorder
Faulty repair of DNA
AED associated with dysraphism/ rachischisis
Valproic acid and carbamazepine
greatest risk factor in developing spina bifida
Previous pregnancy with spina bifida (30-fold)
2 common complications of meningomyelocele
Meningitis and hydrocephalus from CHiari malformation
Tethered cord: presentation
urinary incontinence and urgency, numbness of feet and legs, foot drop
Tethered cord: cause
congenital cyst or tumors (lipoma and dermoid) that arise in the film terminal and attach the cord to the sacrum
A congenital abnormality of the occipital bone that invaginated the posterior atlas into the cranial cavity
basilar impression
Abnormality in Fragile X syndrome
unstable CGG repeats in X chromosome which inactivates FMR1 gene that codes for an RNA binding protein
Gray or yellow plaques found in the retina in or near the optic disc
phakoma
What are Angiomyolipomas?
benign tutors of mixed cell type seen in Tuberous Sclerosis
2 abnormal genes in TUberous Sclerosis
TSC 1 (Hamartin): chromosome 9 TSC 2 (Tuberin): chromosome 16
Also known as Burnsville Disease
Tuberous Sclerosis
Gray- white specks of depigmentation seen in irides of patients with Down SYndrome
Brushfield spots
Trisomy 21?
Trisomy 13?
Trisomy 18?
21: Down
13: Patau
18: Edwards
What mutation is associated with Cri-du-chat?
deletion of chromosome 5
what is mTOR: Mammalian target of rapamycin
cell size control pathway activated in tubers of Tuberous Sclerosis
Name 2 mTOR inhibitors
Sirolimus
Everolimus
Which mTOR inihibitor is best used for status epileptics in patients with tuberous sclerosis?
Everolimus
Chromosome and gene affected in NF-1
Chromosome 17
Neurofibromin
Chromosome and gene affected in NF-2
Chromosome 22
Merlin gene or Schwannomin
Small whitish spot/ hamartoma in the iris seen in NF-1
Lisch nodule
How many percent of NF develop malignant degeneration?
2 to 5%
Peripherally become sarcoma
Centrally become astrocytoma or glioblastoma
Also known as Louis Bar SYndrome
Ataxia- Telangiectasia
Pathogenesis of Ataxia Telangiectasia
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
What developmental disorder has a defect in X chromosome presenting with mental regression, appearance of handwringing and other stereotyped hand movements
Rett Syndrome
