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63 Cards in this Set

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The mutation in TSC1 is on which chromosome? What does it encode?
1. 9q
2. Hamartin
The mutation in TSC2 is on which chromosome? What does it encode?
1. 16p
2. Tuberin - GTPase
Are most TSC new mutations of inherited mutations?
New
TSC problems are involved in a mutation involving the function of what kind of genes?
Tumor suppressor genes
What is the clinical triad of TSC?
1. Mental retardation
2. Epilepsy
3. Adenoma sebaceum
What would be a better term to describe a adenoma sebaceum?
Angiofibroma - mixed up population of cells which are vascular smooth muscle cells and skin cells that become confused and causing little bumps.
How many TSC patients exhibit the classical triad?
1/3
What are seven other features of TSC that are the most important ones?
1. Subependymal calcifications
2. Sz
3. Olfactory hamartomas
4. Ashleaf spots/confetti nodule - need a Wood's lamp - hypopigmented
5. Adenoma sebaceum
6. Shawgreen patches
7. Ungral fibromas
Adenoma sebaceum is often confused with what?
acne
Subependymal lesions are often described as...
Candle gutterings
What are TSC symptoms usually seen in kids?
1. Cardiac rhabdomyomas
2. Renal angiomyolipoma
3. Renal cysts
4. Pulmonay cysts
5. Liver hamartomas
6. Fibromas on their gumline
7. Renal hamartomas
Under histological examination of a rhabdomyoma, how is it described?
Spiderlike appearance
A retinal exam of someone with TSC is described as....
Mullberry-like flat lesion
What are the three common characteristics of OI?
1. Osteopenia
2. Osteoporosis
3. Skeletal deformities
What is the MOI for OI?
Autosomal dominant mutation affecting Type I collagen.
What is the most common type of OI? When is its onset?
1. Type 1
2. Childhood or adulthood
What are the clinical features of OI?
1. Excessive bone fragility
2. Easy bruising, bone deformity
3. Hearing loss
What is characteristic of OI (I and II)?
Blue to grey sclera
Which OI type leads to infant death?
OI II
Is the MOI of OI II usually AD or AR?
AD
What is the hallmark of OI II?
Extreme bone fragility - in utero fractures
Which disorder can you see ballotable brains?
OI II - almost non-existant skulls
What features are most common to most variants of Ehlers-Danlos Syndrome?
1. Marked skin hyperextensibility
2. Poor wound healing
3. Very stretchy skin
4. Excessive vulnerbility to trauma and bruising
5. Joint hyperlaxity
What is the MOI of Vascular EDS?
AD
What is the usual cause of death in Vascular EDS?
Ruptured abdominal aneurysm
How do you tell an aneurysm from vascular EDS from arteriosclerosis??
The vessels with arteriosclerosis usually are hard unlike vessels in vascular EDS.
The mutation in vascular EDS is in what gene?
Type III collagen: COL3A1
Where can you find type III collagen?
Blood vessels and intestine
What are the common mutations involving Type III collagen in vascular EDS?
1. Decreased rate of synthesis of pro alpha-1 chains for Type III
2. Decreased rate of secretion of Type III procollagen
3. Synthesis of abnormal type III collagen
What is the MOI for kyphoscoliosis EDS?
AR
What is mutated in kyphoscoliosis EDS?
Lysyl hydroxylase
What is the MOI for arthrochalasia EDS?
AD
What is the MOI for dermatosparaxis EDS?
AR
What type of collagen is affected in arthrochalasia and dermatosparaxis EDS?
Type I collagen
What is defective in arthrochalasia EDS?
COL1A1 and COL1A2 which makes them resistant to peptidase cleavages.
What is defective in dermatosparaxis EDS?
The enzyme procollagen-N-peptidase - necessary for COL1A1 and COL1A2 cleavage.
What is the MOI for classic EDS?
AD
What is defective in classic EDS?
Type V collagen: COL5A1 and COL5A2 (30% to 50%)
Which two EDS are AR?
1. Kyphoscoliosis
2. Dermatosparaxis
What is the defect in Marfan Syndrome?
Fibrillin (FBN 1)
Most of the gene mutations in Marfan's are of what type?
Missense mutations
What is Marfan's until proven otherwise.
Bilateral ectopic lentis
Dolichocephaly
Marfan's Syndrome
Supraorbital prominence
Marfan's Syndrome
Ectasia of the dural sac
Marfan's Syndrome
Arachnodactyly
Marfan's Syndrome
High arched palates
Marfan's Syndrome
Aortic root disection and aortic disection
Marfan's Syndrome
Tay Sachs predominantly affects...
CNS neurons
Neimann-Pick predominantly affects....
CNS neurons and macrophages (50/50)
Gaucher predominantly affects...
Macrophages
What is the defective enzyme in Tay-Sachs?
Hexosaminidase A alpha
What is the defective enzyme in Sandoff?
Hexosaminidase A beta
What accumulates in Tay-Sachs?
GM2 gangliosides
What accumulates in Sandoff
GM2 gangliosides
What is defective in Niemann-Pick disease?
Sphingomyelinase
What type of Niemann-Pick disease is most prominent?
A
What accumulates in Niemann-Pick disease?
Sphingomeylin
What is the defect in Gaucher disease?
Glucocerebrosidase
What accumulates in Gaucher disease?
Glucocerebroside
What is the age of death in Tay-Sachs?
2-5 years
What is the age of death in Niemann Pick disease?
Less than 3 years
Hypotonia is an important symptom in which lysosomal storage disorder?
Niemann Pick disease