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28 Cards in this Set
- Front
- Back
ADEM? |
Acute disseminated encephalomyelitis. Encephalitis, seizure, or acute paralysis that develops after an acute infection or vaccination from an overactive immune system. |
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Diagnosis and treatment for ADEM |
MRI showing multiple areas of demyelination in the brain and spinal cord, white and grey matter. Responds to steroids and IVIG. Most fully recover over months and about 25% will develop MS later on |
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Distinguishing ADEM vs MS |
ADEM affects grey and white matter. MS is just white matter |
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Transverse myelitis |
Basically MS in the spine. Steroids and IVIG do the trick. |
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Ataxia after VZV infx |
Acute cerebellar ataxia. Can occur after any infection. Truncal > extremity. Self limiting. |
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Gullain Barre has 2 findings. High protein and what else? |
MRI of the L spine showing radicular enhancement |
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Miller Fisher variant of guillian Barre |
Opthalmoplegia, areflexia, ataxia. NO WEAKNESS. LP looks like GBS. |
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Bickerstaffs encephalitis |
Brainstem. Looks like progressive CN dysfxn and Miller Fisher but then the patient starts having seizures and losing consciousness. Rapidly fatal if not recognized, likely to fully recover. |
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Types of Chiari malformations |
Chiari 1 - cerebellar tonsillar herniation into the foramen Magnum. Associated with syrinx. Chiari 2 - more severe. Has meningomyelocele and usually hydrocephalus. Can also see lack of corpus callosum. Chiari 3 - Encephalocele |
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Embryology of anencephaly vs meningoceles |
Neural tube forms in first month if life. Closes by day 28. Anterior neuropore closes by 24-25 when there are 13 somites. If no anterior neuropore closure = anencephaly. Posterior neuropore closes by day 28 when there are 25 somites. Mwningoceles occur due to improper posterior closure. |
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Rett Syndrome mutation |
MECP2 mutation. X linked dominant. Boys die in utero or are XXY or mosaic and live. |
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Classic Rett syndrome patient |
Hand wringing and purposeless hand movements. Develop microcephaly. Normal initial development. Then regress. |
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Fragile X syndrome genetics |
Trinucleotide expansion of FMR Gene. If only partial, Fragile X Tremor and Ataxia Syndrome (FXTAS) when they are over 50. Cognitive decline and Ataxia with intention tremor. If full mutation, MR garaunteed in males and probable in females. |
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The childhood equivalent of ALS |
Spinal muscle atrophy. Disorder of the anterior horn cell. |
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Friedrichs Ataxia genetics |
Trinucleotide repeat disease involving the FXN Gene = dysfxn of frataxin protein which localizes to the mitochondria and is important in iron metabolism. |
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Pathology of Friedrich Ataxia |
By 25 years old it presents. Thin spinal cord degeneration of posterior columns and dorsal root ganglion, corticospinal tract, spinocerebellar tracts. May go as high to hit superior cerebellar peduncles and lower cranial nerves. Also issues with myocardium degeneration. |
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Clinical picture of FA |
Gait Ataxia first. Then upper extremity Ataxia. Pes cavys. Hammertoes. Kyphoscoliosis. Cardiomyopathy 50%. DM 10%. PE: DTRs are down. Toes up. No dorsal column stuff. Ataxia. Dysarthria. |
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Inheritance of Duchenne Muscular Dystrophy |
X linked recessive mutation in DMD Gene, largest Gene in the human body. |
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Clinical DMD |
Calf pseudohypertrophy Gowers maneuver Wheelchair bound Cardiac conduction issues later on Death in 20s to 30s. |
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Becker's DMD |
Not as bad. Partial gene affected. Longer drawn out course. |
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SMA types |
1 - No SMA. Birth onset. Werding Hoffman. 2 - Chronic infantile. 6-18mo 3 - Chronic juvenile. > 18 mo 4 - Adult. 30s. All caused by SMN deletions. Higher number = more SMN = healthier. SMN plays critical role in assembly of snRNPs, essential for early pre-mRNA splicing |
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Clinical presentation of SMA |
Hypotonia, proximal weakness and regression, loss of reflexes, fasciculations in tongue. If type 1, dead by 2yo |
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Sturgeon Weber clinical |
Port wine stain. AV malformation if stain affects upper face, cranial nerve V distribution. Glaucoma. Sporadic inheritance. |
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Neurofibromatosis 1 genetics |
Autosomal dominant. 17q. |
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Neurofibromatosis 1 clinic |
Cafe-au-lait, neurofibromas, lisch nodules, optic gluomas. Check for lesions on MRI. 50% with cognitive defects |
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NF 2 |
Super rare. Can have some NF1 findings. Known for bilateral acoustic neuromas. 22q Merlin gene mutation. Not related to NF1 genetically. |
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Tuberous Sclerosis genetics |
AD. Chrom 9 or 16. |
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Tuberous Sclerosis clinical |
Cortical tubers, sub-ependymal nodules, giant cell astrocytoma, seizures, Dev delay. Skin: Ash lead spots (hypomelanotic macules), facial angiofibromas, retinal hamartomas. Other: cardiac rhabdomyoma, renal angiomyolipomas. |