Blueprints

Question 1

Xanthochromia

Answer 1

Typical in SAH, hemorrhagic encephalitis

Question 2

Positive EBV PCR in CSF

Answer 2

Suggestive of CNS Lymphoma

Question 3

Peripheral nystagmus

Answer 3

Peripheral nystagmus is often unidirectional, with
the fast phase away from the lesion; it combines
horizontal and torsional movements and is inhibited
by fixation.

Question 4

Central nystagmus

Answer 4

Central nystagmus is normally bidirectional; often
purely horizontal, vertical, or torsional; and not inhibited
by fixation.

Question 5

Vertical Saccades

Answer 5

Vertical saccades originate from bilateral frontal

eye fields or the superior colliculus.

Question 6

Ménière disease

Answer 6

Ménière disease is characterized by episodic
vertigo with nausea and vomiting; fluctuating, but
progressive hearing loss; tinnitus; and a sensation of
fullness or pressure in the ear. It is caused by an
intermittent increase in endolymphatic volume.

Question 7

benign positional paroxysmal vertigo

BPPV

Answer 7

BPPV results from freely moving crystals of calcium
carbonate within one of the semicircular canals.
When the head is stationary, these crystals settle in
the most dependent part of the canal (usually posterior).
With head movements, the crystals move more
slowly than the endolymph within which they lie;
once the head comes to rest, their inertia causes
ongoing stimulation of the hair cells, resulting in the
illusion of movement (vertigo). Diagnosis is established
by demonstrating the characteristic downbeating
and torsional nystagmus with the Dix-Hallpike
test

Question 8

perilymph fistula

Answer 8

A perilymph fistula results from disruption of the
lining of the endolymphatic system. Typically, the
patient reports hearing a “pop” at the time of a sudden
increase in middle ear pressure, with sneezing,
nose-blowing, coughing, or straining. This is followed
by the abrupt onset of vertigo.

Question 9

Vestibular neuronitis

Answer 9

Vestibular neuronitis presents as an acute unilateral
(complete or incomplete) peripheral vestibulopathy.
The designation neuronitis is inaccurate
because there is no evidence of inflammation, but
the term is retained here because of its common
usage. Patients develop a sudden and spontaneous
onset of vertigo, nausea, and vomiting. The onset is
usually over minutes to hours; symptoms peak
within 24 hours and then improve gradually over
several days or weeks. Complete recovery may not
occur for months. Nystagmus is strictly unilateral
and may be suppressed by visual fixation. Recovery
represents central compensation for the loss of peripheral
vestibular function

Question 10

episodic ataxia

Answer 10

The episodic ataxia (EA) syndromes are characterized
by brief episodes of ataxia, vertigo, nausea, and vomiting caused by mutations
in calcium and potassium channel genes.

Question 11

spinocerebellar ataxias (SCAs).

Answer 11

The typical presentation is the
insidious onset of progressive impairment of gait and
dysarthria in early adult life.The autosomal dominant SCAs are a group of
degenerative disorders caused by trinucleotide
expansions. CAG

Question 12

Miller Fischer syndrome

Answer 12

The Miller Fisher syndrome (MFS) is a disorder
characterized by the triad of ataxia, areflexia, opthalmoplegia. The ataxia is due to proprioceptive
loss rather than to cerebellar dysfunction.

Question 13

Lennox-Gastaut

Answer 13

Tonic, atonic, myoclonic, generalized tonic clonic, absence. mental retardation. slow (1-2 Hz) spike and wave
valproic acid and lamotrigine treatment

Question 14

Benign rolandic epilepsy

Answer 14

Simple partial involving mouth and face, generalized toni-clonic
Nocturnal preponderance of seizures
Centrotemporal spikes
Carbamazepine treatment

Question 15

Absence

Answer 15

Hyperventilation as trigger
3-hz spike and wave
Ethosuximide, valproic acid

Question 16

Juvenile myoclonic epilepsy

Answer 16

Myoclonic absence, generlaized tonic-clonic
Early morning preponderance of seizures
4 to 6 polyspike-and-wave
Valproic acid, lamotrigine

Question 17

Parkinson

Answer 17

mutations: alpha synuclein, parkin, DJ-1, PINK1, UCH-L1, LRRK2
The tremor is slow (3-5 Hz) and most prominent when the limb is at rest

Question 18

Stiff-person syndrome

Answer 18

Characterized by chronic axial muscle rigidity and stiffness with superimposed painful muscle spasms. Stiff-person syndrome may be associated with anti-GAD antibodies. Benzodiazepines and baclofen are the most useful antispasticity agents

Question 19

Sarcoidosis

Answer 19

Cranial neuropathy
due to chronic basal meningitis is the most
common presentation of neurosarcoidosis, with the
facial and optic nerves most frequently affected.
steroids. Visual changes are common and may
be due to direct involvement of the optic nerve or its
meningeal covering or to uveitis. Raised intracranial
pressure with papilledema may result from a spaceoccupying
lesion, diffuse meningeal involvement, or
hydrocephalus.

Question 20

Glioblastoma
multiforme (grade IV
astrocytoma)

Answer 20

Common, highly malignant 1° brain tumor with ~ 1-year median survival. Found in cerebral
hemispheres A . Can cross corpus callosum (“butterfly glioma”). Stain astrocytes for GFAP.
Histology: “pseudopalisading” B pleomorphic tumor cells—border central areas of necrosis and
hemorrhage.

Question 21

Meningioma

Answer 21

Common, typically benign 1° brain tumor. Most often occurs in convexities of hemispheres (near
surfaces of brain) and parasagittal region. Arises from arachnoid cells, is extra-axial (external
to brain parenchyma), and may have a dural attachment (“tail” C ). Often asymptomatic; may
present with seizures or focal neurologic signs. Resection and/or radiosurgery.
Histology: spindle cells concentrically arranged in a whorled pattern; psammoma bodies (laminated
calcifications D).

Question 22

Hemangioblastoma

Answer 22

Most often cerebellar E . Associated with von Hippel-Lindau syndrome when found with retinal
angiomas. Can produce erythropoietin 􀁰 2° polycythemia.
Histology: closely arranged, thin-walled capillaries with minimal intervening parenchyma F .

Question 23

Schwannoma

Answer 23

Classically at the cerebellopontine angle, but can be along any peripheral nerve G. Schwann cell
origin H, S-100 ⊕; often localized to CN VIII 􀁰 vestibular schwannoma. Resectable or treated
with stereotactic radiosurgery.
Bilateral vestibular schwannomas found in NF-2.

Question 24

Oligodendroglioma

Answer 24

Relatively rare, slow growing. Most often in frontal lobes I . “Chicken-wire” capillary pattern.
Histology: oligodendrocytes = “fried egg” cells—round nuclei with clear cytoplasm J . Often
calcified in oligodendroglioma.

Question 25

Pilocytic (low-grade)

astrocytoma

Answer 25

Usually well circumscribed. In children,
most often found in posterior fossa A (e.g.,
cerebellum). May be supratentorial. GFAP ⊕.
Benign; good prognosis.
Rosenthal fibers—eosinophilic, corkscrew
fibers B .
Cystic + solid (gross).

Question 26

Medulloblastoma

Answer 26

Highly malignant cerebellar tumor C . A form
of primitive neuroectodermal tumor. Can
compress 4th ventricle, causing hydrocephalus.
Can send “drop metastases” to spinal cord.
Homer-Wright rosettes. Solid (gross), small blue
cells D (histology).

Question 27

Ependymoma

Answer 27

Ependymal cell tumors most commonly found
in 4th ventricle E . Can cause hydrocephalus.
Poor prognosis.
Characteristic perivascular rosettes F . Rodshaped
blepharoplasts (basal ciliary bodies)
found near nucleus.

Question 28

Canavan’s disease

Answer 28

Canavan’s disease may produce developmental regression at about 6 months of age. The infant develops extensor posturing and rigidity. Myoclonic seizures may develop.
Underlying the disease is a defect in N-acetylaspartic acid metabolism. Elevated levels of this material can be detected in the blood and urine, but elevated levels in the brain establish the diagnosis. Changes in brain white matter are widespread and may result in a spongiform appearance.

Question 29

Neuromyelitis optica

Answer 29

Neuromyelitis optica produces signs and symptoms of bilateral optic neuritis in association with a transverse myelitis. The paraparesis, bladder and bowel dysfunction, and sensory deficit signal a transverse myelitis—that is, an inflammatory demyelinating lesion that transects much of the spinal cord.

Question 30

Hereditary Leber’s optic atrophy

Answer 30

This condition is caused by one of several possible
mutations in mitochondrial DNA.
A 24-year-old man has progressive loss of vision over the course of 5 years. A visual field examination reveals a centrocecal scotoma.

Question 31

X-linked adrenoleukodystrophy

Answer 31

The underlying defect in this X-linked disorder is an ATP-binding transporter in the peroxisomal
system responsible for long-chain fatty acid metabolism. Long-chain fatty acids accumulate in adrenal cortical and other cells.

Two brothers, 4 and 7 years of age, exhibit limb ataxia, nystagmus, and mental retardation. MRI of their brains reveals areas of abnormal signal in the white matter. Cerebellar involvement is substantial. Both boys also
have abnormally low serum cortisol levels.

Question 32

Pelizaeus-Merzbacher disease

Answer 32

A 3-month-old boy exhibits nystagmus and limb tremors unassociated with seizures. Over the next few years, he develops optic atrophy, choreoathetotic limb movements, seizures, and gait ataxia. He dies during status epilepticus and at autopsy is found to have widespread myelin breakdown with myelin preservation in islands about the blood vessels.
The pathologist diagnoses a sudanophilic leukodystrophy to describe the pattern of staining observed on slides prepared to look for myelin breakdown products.

Question 33

Abetalipoproteinemia

Answer 33

At age 5, a child is noted to have the loss of ankle jerks. At age 10, limb ataxia develops, followed by a peripheral neuropathy. During adolescence, retinitis pigmentosa develops. Acanthocytosis is present