Neurocutaneous Disorders Flashcards
1
Q
Describe Tuberous Sclerosis Complex (TSC) (3)
A
- affects cell differentiation, proliferation, migration early in dvp’ment
- variety of hamartomatous lesions
- every organ sys
2
Q
TSC triad?
A
- Intractable epilepsy
- Mental retardation
- Adenoma sebaceum (red papules on face)
3
Q
Genetic foci of TSC? (2)
A
- chromo 9q34 (TSC 1)
- chromo 16p13 (TSC 2)
4
Q
Proteins implicated in TSC? (2)
A
- TSC 1 = hamartin (tumor suppressor)
- TSC 2 = tuberin (tumor suppressor)
- cooperate to regulate cell growth and differentiation
5
Q
Phenotypic variability assoc w/ TSC?
A
- 2nd hit phenomenon
- flawed copy of a TSC gene by mutation, not enough to –> phenotype
- normal allele gets 2nd hit
6
Q
Biological hallmarks of TSC? (3)
A
- cortical tubers (abnormal glial/neural elements)
- subependymal nodules (SEN – obstruction/hydrocephalus)
- subependymal giant cell astrocytomas (SEGA)
7
Q
Skin lesions assoc w/ most TSC cases? (4)
A
- hypomelanotic (Ash leaf) macules
- thick subcutaneous tissue (shagreen patch)
- periungual or gingival fibromas
- adenoma sebaceum (face)
8
Q
Heart defects assoc w/ TSC? (3)
A
- rhabdomyomas
- cardiac conducting sys
- intracardiac mass @ birth
9
Q
Other organ system defects assoc w/ TSC? (3)
A
- renal cysts and angiomyolipomas
- retinal astrocytomas
- pulmonary cysts and lymphangioleiomyomatosis
10
Q
Cognitive impairments assoc w/ TSC? (3)
A
- earlier seizure onset
- intractable seizures
- infantile spasms
11
Q
Hallmark feature of Neurofibromatosis 1 (NF1)?
A
- cafe au lait spots
- macular, regular border
- usually 1st 2 yrs of life
12
Q
Dermal assoc’s of NF1? (3)
A
- skinfold freckling in 1st 5 yrs of life
- cutaneous neurofibromas (not pre-malignant)
- plexiform neurofibromas (could become malignant)
13
Q
What are Lisch nodules pathognomonic of and where are they?
A
- NF1
- found in iris
14
Q
Describe optic pathway gliomas? What disease?
A
- NF1
- CNS tumor
- astrocytomas
- dx before age 6
- decreased visual acuity, visual field defects
15
Q
MRI lesions from NF1? (2)
A
- UBOs = unID’d bright objects = hamartomas
- better seen on T2 images
- also sphenoid dysplasia or thinning of long bone cortex w/w/o pseudarthrosis