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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.

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

Distinguishing ADEM vs MS

ADEM affects grey and white matter. MS is just white matter

Transverse myelitis

Basically MS in the spine. Steroids and IVIG do the trick.

Ataxia after VZV infx

Acute cerebellar ataxia. Can occur after any infection. Truncal > extremity. Self limiting.

Gullain Barre has 2 findings. High protein and what else?

MRI of the L spine showing radicular enhancement

Miller Fisher variant of guillian Barre

Opthalmoplegia, areflexia, ataxia. NO WEAKNESS. LP looks like GBS.

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.

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

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.

Rett Syndrome mutation

MECP2 mutation. X linked dominant. Boys die in utero or are XXY or mosaic and live.

Classic Rett syndrome patient

Hand wringing and purposeless hand movements. Develop microcephaly. Normal initial development. Then regress.

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.

The childhood equivalent of ALS

Spinal muscle atrophy. Disorder of the anterior horn cell.

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.

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.

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.

Inheritance of Duchenne Muscular Dystrophy

X linked recessive mutation in DMD Gene, largest Gene in the human body.

Clinical DMD

Calf pseudohypertrophy


Gowers maneuver


Wheelchair bound


Cardiac conduction issues later on


Death in 20s to 30s.

Becker's DMD

Not as bad. Partial gene affected. Longer drawn out course.

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

Clinical presentation of SMA

Hypotonia, proximal weakness and regression, loss of reflexes, fasciculations in tongue. If type 1, dead by 2yo

Sturgeon Weber clinical

Port wine stain. AV malformation if stain affects upper face, cranial nerve V distribution. Glaucoma.



Sporadic inheritance.

Neurofibromatosis 1 genetics

Autosomal dominant. 17q.

Neurofibromatosis 1 clinic

Cafe-au-lait, neurofibromas, lisch nodules, optic gluomas. Check for lesions on MRI. 50% with cognitive defects

NF 2

Super rare. Can have some NF1 findings. Known for bilateral acoustic neuromas. 22q Merlin gene mutation. Not related to NF1 genetically.

Tuberous Sclerosis genetics

AD. Chrom 9 or 16.

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.