Abnormal Clinical Presentations Flashcards
1
Q
Zellweger Syndrome
A
- Mutation in transport proteins of peroxisomes - affects myelin sheath and brain development - is fetal and fatal generally
2
Q
Adrenoleukodystrophy
A
- disruption in oxidation of long chain fatty acids within peroxisomes - X linked - affects myelin, brain, and adrenals - generally survive about ten
3
Q
Primary Ciliary Dyskinesia
A
- genetic defects of ciliary proteins result in malformation of skeleton of cilia - causes uncoordinated or absent beating - consequences: dextrocardia, impaired development of skull air sinuses, no mucous removal (meaning recurrent respiratory infections), infertility
4
Q
Ehler’s Danlos Syndrome (EDS)
A
- Affects 1/5000
- Congenital disorder that is from impaired extracellular modification of collagen, resulting in formation of defective collagen fibers
- Presents with hyperelasticity, loose and unstable joints that dislocate easily, low muscle tone and weakness, various bone abnormalities including vertebra malformations, osteopenia and others.
- Type IV - most serious because of spontaneous ruptures of arteries in the bowel, this reflects abnormal formation of type III collagen
- Type VI - lysl-hydroxylase deficiency (hypermobility and tendency for ocular rupture)
- Type VIIC - due to procollagen N-proteinase deficiency, causing formation of abnoraml thin, irrefular collagen fibrils manifested by marked joint hypermobility
5
Q
Alport Syndrome
A
- both X linked and autosomal
- affects Type IV collagen fibers
- present with hematuria and may eventually develop ESRD due to renal basal membrane abnormality
6
Q
Scurvy
A
- Affects the structure of the collagen and is due to Vitamin C deficiency
- major signs are bleeding gums, subcutaneous hemorrhages and poor wound healing
- reflects impaired synthesis of collagen due to deficiency of prolyl and lysl hydroxylase activity
7
Q
I- Cell Disease
A
- Lysosomal storage disorder
- mutation of mannose-6-phosphate which is the marker tagging a protein to go from trans-Golgi to lysosome.
- Repeated upper respiratory infections, noisy breathing, and a persistent nasaldischarge may also be present. Other symptoms may include growth delays, mental retardation, joint stiffness, deafness, and/or heart disease.
8
Q
Mitochondrial myopathies
A
- mutations in both nuclear and mitochondrial genes
- maternal inheritance
- presents with proximal muscle weakness, neuro symptoms, lactic acidosis, and cardiomyopathy
9
Q
Pemphigus
A
- body makes abnormal antibodies to proteins that form desmosomes
- prevents normal adhesion between cells and causes widespread blistering as intraepidermal desmosomes fall apart
10
Q
Marfan’s Syndrome
A
- autosomal dominant disease affective connective tissue
- due to mutations in the fibrillin gene; missense mutations have been detected in several patients
- most patients are tall and have arachnodactyly (long digits)
- hyperextensibility of the joints
- cardiovascular problems causing weakness of the aortic media, leading to the dilation of the ascening aorta
- concern for mitral valve prolapse
11
Q
chondrosarcoma
A
- malignant proliferation of cartilage
- cancer has a wide range and slight male predominance
- can develop in any cartilage but is predominate in the pelvis, proximal femur, and proximal humerus
- slow growing tumor
- histologically, they are composed of malignant cells with abundant cartilagnous matrix
12
Q
osteosarcoma
A
- characterized by the production of osteoid by malignant cells
- second most common primary malignancy of bone (20% of primary bone cancers)
- occur most commonly in teenagers and occur at the sites of the most rapid growth, including the distal femur, proximal tibia, and proximal humerus
- highly metatstatic
13
Q
osteoid osteoma
A
- small benign tumor that occurs anywhere in the appendicular skeleton or the spine
- causes acute night pains
- histologically, tumors are composed of primary bone with osteoblasts surrounding the osteoid
14
Q
Paget’s disease
A
- enlarged and deformed bones
- occurs in stages
- initally increased activity of osteoclasts that result in bone resorption
- followed by deposition of irrefular patches of primary bone
- new bone is more fragile and prone to fx
- etiology unknown
15
Q
sirenomelia/caudal dysgenesis
A
- aka Mermaid syndrome
- insufficient mesoderm is formed in the caudal most region of the embryo
- absent or fused lower limbs, vertebral abnormalities, renal agenesis, and anomalies of teh genital organs
- condition sometimes associated with maternal diabetes
16
Q
situs inversus
A
left and right organ positons are reversed
17
Q
1) leukocytosis
2) leukopenia
3) normal range of leukocytes
A
1) > 12,000 leukocytes
2) < 5,000 leukocytes
3) 5,000 to 9,000 leukocytes
18
Q
Lack of well developed cadherins can lead to what?
A
Metastitic Cancer
19
Q
plural mesothelioma
A
- aggressive tumor often caused by an exposure to asbestos
20
Q
carcinoma
A
cancer derived from barrier epithelium
21
Q
adenocarcinoma
A
cancer derived from glandular epithelium
22
Q
Trisomy 21 (Down Syndrome)
A
- caused by extra copy of chromosome 21
- growth retardation
- varying degrees of intellectual disability
- craniofacial abnormalities, including upward slanting eyes, epicanthal folds, flat facies, and small ears
- cardic defects
- hypotonia
- increased chance of developing leukemia, infections, thyroid dysfunction, and premature aging
- increased frequency and earlier onset of Alzheimer disease
23
Q
Trisomy 18
A
- intellectual disability
- congenital heart defects
- low-set ears, flexion of fingers and hands
- micrognathia (tiny chin)
- renal anomalies
- syndactyly and malformations of the skeletal system
24
Q
Trisomy 13
A
- intellectual disability
- holoprosencephaly (2 hemispheres of forebrain don’t separate correctly)
- congenital heart defects
- deafness
- cleft lip and palate
- eye defects - microphthalmia, anophthalmia, and coloboma
25
Q
Turner Syndrome
A
- 45, X Karotype
- only monosomy compatible with life
- even then, 98% of all fetuses with the syndrome are spontaneously aborted
- unmistakably female in appearance
- absence of ovaries (gonadal dysgenesis) and short stature
26
Q
Angelman Syndrome
A
- microdeletion of the long arm of maternal chromosome 15
- intellectual disability, cannot speak
- exhibit poor motor development
- prone to unprovoked and prolonged periods of laughter
27
Q
Prader-Willi Syndrome
A
- microdeletion of long arm of paternal chromosome 15
- hypotonia
- obesity
- intellectual disability
- hypogonadism and undescended testes
28
Q
Fragile X Syndrome
A
- FMRI gene on the long arm of the X chromosome
- intellectual disability
- large ears, prominent jaw, and large testes
29
Q
Spina Bifida Occulta
A
Spinal cord and surrounding meninges remain within vertebral canal
30
Q
Spina Bifida Menigocele
A
Spinal cord remains in spinal column but surrounding meninges protrude dorsally
31
Q
Spina Bifida Meningomyelocele
A
Both spinal cord and meninges protrude dorsally
32
Q
Congenital Spondylothesis
A
primary ossification centers in the neural arch fail to fuse with the centrum’s - pedicles don’t develop; this leaves the centrum prone to becoming displaced
33
Q
craniosyntosis
A
- sutures in skull develop abnormally, fusing prematurely making a misshapen skull
- negatively impacts development of the brain
34
Q
Williams Syndrome
A
- deletions in elastin gene
- developmental disorder affecting connective tissue and the CNS
- supravalvular aortic stenosis
