patient presentations

Question 1

newborn has frog-like appearance, mother had increased alpha-FP, polyhydramnios

Answer 1

anencephaly

Question 2

newborn determined to have a dimple/tuft of hair on skin in lumbosacral area

Answer 2

spina bifida occulta –> occurs due to failure of closure of posterior vertebral arch

Question 3

newborn is determined to have cystic mass containing meninges in lumbosacral area

Answer 3

meningocele

Question 4

newborn is determined to have cystic mass containing meninges and spinal cord tissue in it

Answer 4

meningomyelocele

Question 5

caudal extension of medulla and cerebellar vermis through foramen magnum

Answer 5

arnold-chiari malformation

Question 6

newborn is noted to have platybasia, meningomyelocele, syringomyelia, and noncommunicating hydrocephalus

Answer 6

arnold-chiari malformation

Question 7

treatment of arnold chiari malformation

Answer 7

decompression surgery

Question 8

partial or complete absence of cerebellar vermis

Answer 8

dandy-walker malformation

Question 9

cystic dilatation of 4th ventricle, noncommunicating hydrocephalus

Answer 9

dandy-walker formation

Question 10

treatment for dandy walker

Answer 10

shunt to treat hydrocephalus

Question 11

30-40 year old person presents to ED with a loss of pain/temperature sensation in the hands although tactile sensation was preserved as well as atrophy of intrinsic muscles in hand

Answer 11

Syringomyelia

Question 12

patient is noted to have fluid-filled cavity in the cervical spinal cord, expanding to disrupt the anterior horns of the spinal cord

Answer 12

syringomyelia

Question 13

MRI shows cystic cavity in cervical spinal cord as well as cervical spine enlargement

Answer 13

syringomyelia

Question 14

meningitis with CSF culture that is positive with hippurate test

Answer 14

group B strep

Question 15

meningitis with CSF culture that is bacitracin resistant

Answer 15

group B strep

Question 16

meningitis with CSF culture that has K capsule

Answer 16

e coli

Question 17

meningitis with CSF culture that is beta-hemolytic

Answer 17

listeria monocytogenes

Question 18

meningitis with CSF culture that appears to have lancet-shaped organism

Answer 18

s. pneumoniae

Question 19

meningitis with CSF culture that appears to have IgA protease and is gram negative diplococci

Answer 19

neisseria meningitidis

Question 20

meningitis with CSF culture that has maltose and glucose fermentation

Answer 20

neisseria meningitids

Question 21

meningitis with CSF culture that appears to have gram negative coccobaccilus organisms

Answer 21

h. influenzae type B

Question 22

meningitis with CSF culture that ferments lactose and is a gram negative rod

Answer 22

e. coli

Question 23

meningitis with CSF culture that has an organism that usually colonizes the vagina

Answer 23

group B strep

Question 24

meningitis with CSF culture that has facultative intracellular microbe

Answer 24

listeria monocytogenes

Question 25

meningitis with CSF culture that shows gram + cocci

Answer 25

group B strep

Question 26

meningitis with CSF culture that with rocket tails

Answer 26

listeria monocytogenes

Question 27

meningitis with CSF culture that appears to have gram positive rods

Answer 27

listeria monocytogenes

Question 28

meningitis with CSF culture that appears to have gram positive diplococci

Answer 28

strep pneumoniae

Question 29

severe headache, nausea, vomiting, and eventual coma

Answer 29

intracerebral hemorrhage, most commonly due to rupture of charcot-bouchard microorganism, secondary to chronic hypertension at basal ganglia

Question 30

"worst headache of my life"

Answer 30

subarachnoid hemorrhage

Question 31

xanthochromia upon CSF

Answer 31

yellow hue due to breakdown of bilirubin - subarachnoid hemorrhage

Question 32

lens shape lesion upon CT

Answer 32

epidural hematoma

Question 33

pt is in hospital after fracture to temporal lobe. what is ddx?

Answer 33

epidural hematoma

Question 34

crescent shaped lesion upon cT

Answer 34

subdural hematoma

Question 35

demyelinating plaques found in spinal cord and brain

Answer 35

MS

Question 36

patient is found to have HLA-DR2, putting them at higher risk for this disease

Answer 36

MS

Question 37

Patient had CMV a few weeks ago, now is developing parasthesias, loss of pain/temp sensation, and has babinski reflex, scanning speech, and blurry vision/sudden loss of vision

Answer 37

MS

Question 38

child has progressive neurological problems and was known to have measles as an infant

Answer 38

subacute sclerosing panencephalitis

Question 39

viral inclusions within neurons (gray matter) and oligodentdrocytes (white matter)

Answer 39

subacute sclerosing panencephalitis

Question 40

patient is found to have large multinucleated histiocyte cells

Answer 40

krabbe

Question 41

patient is found to have deficiency of galactocerebrosidase

Answer 41

krabbe disease

Question 42

patient is found to have an x-linked leukodystrophy

Answer 42

adrenoleukodystrophy

Question 43

patient is found to have accumulation of fatty acid in white matter of brain and adrenals

Answer 43

adrenoleukodystrophy

Question 44

patient is found to have impaired addition of CoA to long chain fatty acids in peroxisome

Answer 44

adrenoleukodystrophy

Question 45

patient is found to have deficiency of arylsulfatase

Answer 45

metachromatic leukodystrophy

Question 46

patient cannot break down myelin and is found to have increased sulfatides

Answer 46

metachromatic leukodystrophy

Question 47

patient has JC virus recurrence due to immunosupression because of AIDS and has progressive neurological problems

Answer 47

progressive multifocal leukoencephalopathy

Question 48

alcoholic patient comes in, given IV and promptly has locked in syndrome

Answer 48

central pontine myelinolysis

Question 49

patient comes in with internuclear opthalmoplegia

Answer 49

MS

Question 50

symmetric ascending weakness beginning in the lower extremities, recently had CMV

Answer 50

guillian barre

Question 51

scanning speech, intention tremor, nystagmus

Answer 51

MS

Question 52

confusion, ataxia, ophthalmoplegia

Answer 52

Wernicke's encephalopathy

Question 53

incontinence, balance problems, and dementia

Answer 53

normal pressure hydrocephalus (communicating hydrocephalus)

Question 54

weakness, hypotonia, flaccid paralysis with headache, fever, and nausea

Answer 54

LMN lesions + signs of infection --> poliomyelitis

Question 55

infant with tongue fasiculations

Answer 55

infant with LMN lesion --> Werdnig Hoffman

Question 56

genetic test shows GAA repeats

Answer 56

freidrichs ataxia

Question 57

child presents with staggering gait, frequent falling, loss of vibratory sense and proprioception, muscle weakness in lower extremities, and loss of DTR

Answer 57

freirich ataxia

Question 58

ptosis, anhidrosis, and miosis of face

Answer 58

horner's syndrome