Pathology 2 Flashcards

1
Q

What is the most common aminoacidopathy?

A

phenyketonuria

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2
Q

What is the inheritance of phenylketonuria?

A

AR

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3
Q

What are hallmark exam findings in PKU? How is it treated?

A

fair skinned blue eyed kid with musty odor

limit phenylalanine consumption

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4
Q

The aminoacidopathies are generally inherited in _____ fashion.

A

AR

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5
Q

What is the inheritance of homocystinuria?

A

AR

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6
Q

What is the deficient enzyme in PKU?

A

phenylalanine hydroxylase

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7
Q

What is the deficient enzyme in homocystinuria?

A

cystathionine B-synthase

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8
Q

What is the symptomatology of homocystinuiria?

A

similar to Marfan’s syndrome, but with mental retardation and increased incidence of stroke, lens dislocations, and arachnodactyly

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9
Q

What is a key finding in maple syrup urine disease?

A

burned sugar smell in the urine

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10
Q

What’s the inheritance of maple syrup urine disease?

A

AR

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11
Q

What is the deficient enzyme in maple syrup urine disease?

A

branched chain a-keto acid dehydrogenase

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12
Q

What is Hartnup disease?

A

aminoacidopathy, cannot absorb neutral amino acids

develop Niacin deficiency with pellegra like symptoms

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13
Q

The sphingolipidoses are inherited in ______ fashion except for ____, which is _____.

A

AR

Fabry, XR

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14
Q

What enzyme is deficient and what accumulates:

Nieman Pick

A

Sphingomyelinase

Sphingomyelin

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15
Q

What enzyme is deficient and what accumulates:

Gaucher

A

Glucocerebrosidase

Glucocerebreside

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16
Q

What enzyme is deficient and what accumulates:

Fabry

A

a-galactosidase

ceramides

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17
Q

What enzyme is deficient and what accumulates:

Tay Sachs

A

Hexosaminadase

AGM2 gangliosides

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18
Q

What enzyme is deficient and what accumulates:

Sandhoff

A

Hexosaminidase A

BGM2 gangliosides

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19
Q

What enzyme is deficient and what accumulates:

GM1 gangliosidosis

A

B-galactosidase

GM1 gangliosides

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20
Q

Which sphingolipidoses cause cherry red spots?

A

Niemann Pick
Tay Sachs
GM1 Gangliosidosis
Gaucher

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21
Q

Which sphingolipidoses affect Ashkenazi Jews?

A

Niemann Pick

Tay Sachs

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22
Q

What are key findings in Niemann Pick?

A

cherry red spot, vertical gaze palsy, MR, hepatosplenomegaly

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23
Q

What are Niemann Pick cells?

A

foamy cells; large vacuolated histiocytes and lymphocytes

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24
Q

What is the most frequent sphingolipidosis?

A

Gaucher

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25
Q

What are Gaucher cells?

A

wrinkled tissue paper appearing cells

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26
Q

What are key findings in Gaucher disease?

A

hypersplenism with anemia and thrombocytopenia

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27
Q

What are key findings in Fabry disease?

A

painful dysesthesias, vascular disease (Htn, renal, death by MI or stroke in adulthood)

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28
Q

What are key findings in Tay Sachs disease?

A

MACROcephaly, cherry red spot (NO organomegaly)

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29
Q

What are clinical findings in Sandhoff disease?

A

similar to tay sachs but has visceral storage

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30
Q

Mucopolysaccharidoses are all _______ inheritance except _____ which is _____.

A

AR

Hunter, XR

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31
Q

What is the enzyme deficiency and urine sulfate metabolite for the following: Hurler

A

a-L-iduronidase

Heparan and dermatan

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32
Q

What is the enzyme deficiency and urine sulfate metabolite for the following: Scheie

A

a-L-iduronidase

Heparan and dermatan

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33
Q

What is the enzyme deficiency and urine sulfate metabolite for the following: Hunter

A

iduronidase sulfatase

Heparan and dermatan

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34
Q

What is the enzyme deficiency and urine sulfate metabolite for the following: Morquio

A

B galactosidase

Keratin

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35
Q

What are key features of Hurler’s disease?

A

gargoyle face, MR, dwarfism, corneal clouding, skeletal abnormalities, thick meninges (can cause spinal cord compression)

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36
Q

What are Zebra bodies?

A

seen on electron microscopy with Hurler’s disease

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37
Q

What are key features of Scheie?

A

milder Hurler, no MR

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38
Q

What are key features of Hunter?

A

milder Hurlery, no MR and less corneal clouding; classic skin pebbling and peripheral nerve entrapment (Carpel tunnel)

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39
Q

Which MPS has the most severe skeletal deformities and ligamentous laxity?

A

Morquio

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40
Q

Which MPS can have carpel tunnel syndrome?

A

Hunter, Scheie, Maroteaux Lamy

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41
Q

Which MPS classically has hydrocephalus?

A

Sly

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42
Q

The leukodystrophies are all _____ inheritance except for _____ which are ____ and _____ which is ____.

A

AR

Adrenoleukodystrophy and Pelizaeus-Merzbacher, XR

Alexander, sporadic

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43
Q

Which leukodystrophy is associated with Ashkenazi Jews?

A

Canavan

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44
Q

What is the enzyme deficiency and what accumulates: Krabbe

A

galactocerebroside β-galactosidase

galactocerebroside

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45
Q

What is the enzyme deficiency and what accumulates: Metachromatic leukodystrophy

A

arylsulfatase A

sulfatides

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46
Q

What is the enzyme deficiency and what accumulates: Adrenoleukodystrophy?

A

ABCD 1

long chain fatty acids

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47
Q

Leukodystrophies have cavitation or degeneration of ______ but spare _____ except for ______ which preferentially targets them.

A

white matter

subcortical U fibers

Canavan

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48
Q

Which leukodystrophy is associated with adrenal insufficiency and bronze skin?

A

adrenoleukodystrophy

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49
Q

What CT finding is unique to Krabbe disease?

A

hyperdense basal ganglia and thalamus

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50
Q

What is seen on histology for Krabbe disease?

A

Globoid cells; large macrophages around blood vessels

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51
Q

What is the treatment in adrenoleukodystrophy?

A

Lorenzo oil and diet low in long chain fatty acids

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52
Q

Which leukodystrophy has a Tigeroid pattern on MRI?

A

Pelizaeus Merzbacher

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53
Q

Alzheimer type II astrocytes are seen in what leukodystrophy?

A

Canavan

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54
Q

What are the key clinical features of MELAS?

A

encephalopathy, lacitc acidosis, stroke like episodes with cortical blindnesss

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55
Q

What are the key clinical features with MERRF?

A

myoclonic epilepsy with ragged red fibers on muscle biopsy

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56
Q

How is Kearns Sayre syndrome inherited?

A

mitochondrial

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57
Q

Which mitochondrial diseases have ragged red fibers on muscle biopsy?

A

MERRF and Kearns Sayre

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58
Q

What are key clinical findings in Kearns Sayre?

A

cardiomyopathy and ophthalmoplegia/retinal issues

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59
Q

What is the inheritance of Lebers hereditary optic neuropathy?

A

mitochondrial

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60
Q

What are the key clinical findings in levers hereditary optic neuropathy?

A

progressive painless loss of central visiosn

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61
Q

What is the inheritance of Menke Kinky hair disease?

A

XR

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62
Q

Menke kinky hair disease is due to a defect in ____ causing decrease in _____.

A

Copper transporting ATPase

GI absorption of copper

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63
Q

What are the key clinical features of Menke Kinky hair disease?

A

tortuous vessels, metaphysial spurring, brittle colorless hair growth, seizures, MR

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64
Q

What is the inheritance of Leigh disease?

A

AR

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65
Q

What is the deficient enzyme in leigh disease?

A

cytochrome C oxidase

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66
Q

Leigh disease results in ______ leading to diffuse neurologic deficits such as _____.

A

bilateral symmetric spongiform degeneration and necrosis of the thalamus, basal ganglia, brainstem, and spinal cord with peripheral nerve demyelination

decreased muscle tone and head control, seizures, myoclonus, ophthalmoplegia, and respiratory and swallowing problems

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67
Q

What’s another name for Lowe syndrome? How is it inherited?

A

XR

oculocerebrorenal syndrome (cataracts, MR, death by renal failure)

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68
Q

What is the inheritance of Lesch-nyhan syndrome? What is the deficient enzyme? What are its key clinical features?

A

XR

HGPRT

accumulation of uric acid leading to choreoathetosis and self mutilation

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69
Q

What is Zellweger syndrome? What’s another name for it?

A

XR

Cererbrohepatorenal syndrome (cortical dysgensis, hepatorenal failure)

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70
Q

What neurons are affected first in Hungtinton’s disease?

A

medium spiny type 1 neurons

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71
Q

What neurotransmitters are affected in Huntington’s disease?

A

decreased GABA and ACh

increased NE and somatostatin

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72
Q

What is the inheritance of Wilson’s disease?

A

AR

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73
Q

What chromosome is associated with Wilson’s disease?

A

Ch 13

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74
Q

What is seen on histology for Wilson’s disease?

A

Alzheimer type II astrocytes in grey matter, Opalski cells (microglia) in the GP

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75
Q

What is seen on gross pathology of Wilson’s disease?

A

spongy red degeneration and cavitation of the putamen and GP with occasional atrophy of the superior and middle frontal gyri

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76
Q

How is Wilson’s disease treated?

A

limit copper food (liver and chocolate), penicillamine, copper chelate

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77
Q

What two disease have neurofibrillary tangles? What’s the difference?

A

Alzheimers (flamed) and Progressive supranuclear palsy (globose)

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78
Q

What is an key history finding in patients with progressive supranuclear palsy?

A

multiple falls with poor response to L-DOPA

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79
Q

What is seen on gross pathology with striatonigral degeneration?

A

atrophic/brown putamen and depigmented SN

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80
Q

What is Hallorvorden Spatz disease?

A

AR, iron deposition disease atrophic GP and SN leading to extrapyramidal and corticospinal dysfunction

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81
Q

What is the effect of amantadine for Parkinson’s?

A

increases DA release

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82
Q

Benztropine and trihexylphenidyl are both _____.

A

antiholinergics

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83
Q

What medication can be used for tremor in parkinson’s disease?

A

propanolol

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84
Q

______ deep brain stimulation is best for contralateral bradykinesia and tremor.

A

Subthalmic

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85
Q

Shy Drager syndrome has loss of cells in the ______.

A

intermediolateral column of the spinal cord and putamen

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86
Q

What is the inheritance of friedreich’s ataxia?

A

AR

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87
Q

What is the genetics of friedreich’s ataxia?

A

Ch 9 trinucelotide repeat, Frataxin gene

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88
Q

What is the inheritance of Lafora body disease?

A

AR

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89
Q

What are the symptoms of Lafora body disease?

A

myoclonic seizures and dementia

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90
Q

What is seen with Baltic myoclonus? What is the inheritance?

A

AR

myoclonic seizures with purkinje cell atrophy

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91
Q

Spinal muscular atrophy is defined by degeneration of _____ and sparing of _____.

A

anterior horn and hypoglossal nuclei

corticospinal and bulbar nuclei

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92
Q

What is the most common SMA?

A

SMA type 1 (Werdnig Hoffman)

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93
Q

What is the genetics of SMA type 1? What is the inheritance?

A

AR

Ch 5

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94
Q

Floppy infant syndrome is a result of ____.

A

SMA type 1

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95
Q

All SMA types have _____ weakness with sparing of the _____.

A

proximal muscle

eyes

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96
Q

Most ALS cases are sporadic but ____ percent are____ on Ch ____ due to mutation in ______.

A

10%

AD

Ch 21

superoxide dismutase

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97
Q

What are Bunina bodies?

A

intracytoplasmic inclusions in ALS in anterior horn cells

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98
Q

How does diphtheria affect myelin?

A

inhibits Schwann cell myelin synthesis

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99
Q

MS is associated with HLA ___.

A

DR 2 and DR 4

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100
Q

What is Charcot’s triad? Where is it seen?

A

nystagmus, scanning speech, intention tremor

MS

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101
Q

B/l intranuclear ophthalmoplegia is pathognomonic for ______.

A

MS

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102
Q

MS plaques on gross pathology are ____ if older and _____ if acute.

A

grey

pink

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103
Q

Lymphocytes that are seen in MS are predominantly _____.

A

T cells

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104
Q

In MS, steroids decrease ______, B-interferon decreases _____, and Copaxone decreases _____.

A

steroids - attack duration

B-interferon - attack rate

Copaxone - frequency of relapses

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105
Q

What is Margburg variant (acute) MS?

A

rapidly fatal variant with diffuse large plaques

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106
Q

What microscopic changes are seen at different time intervals in ischemic stroke?

A

Under 6 hrs: cell swelling and edema
6-12 hrs: shrinking of the cell, incrustations
24 hrs: PMNs accumulate
48 hrs: PMNs peak
3-5 days: macrophages arrive
2 weeks: vessels form around the periphery and enhancement begins

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107
Q

Ischemic penumbra is associated with blood flow between ______.

A

8-23 mL/100g/minute

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108
Q

What cerebral areas are most susceptible to ischemia?

A

hippocampus, cortex (parietooccipital deep sulci third, fifth, and sixth layers), basal ganglia (caudate and putamen), and cerebellum (Purkinje cells)

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109
Q

What areas of the hippocampus are most susceptible to ischemia? Most resistant?

A

CA1 (somner) and CA3 (endplate)

CA2

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110
Q

What is hypoxic ischemic encephalopathy?

A

due to global hypoperfusion or hypoxia; watershed strokes especially parietooccpital area

symptoms are “man in barrel” syndrome with proximal limb weakness

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111
Q

What is seen on pathology for hypoxic ischemic encephalopathy?

A

laminar necrosis of cortical layers 3,5,6 and putamen

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112
Q

What neurotransmitter has been associated with cellular necrosis after ischemia and with blockage can increase neuronal survival?

A

glutamate

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113
Q

<p>Atherosclerotic plaques form most commonly at the \_\_\_\_\_\_.</p>

A

<p>ICA bifurcation and distal basilar artery</p>

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114
Q

<p>The formation of an atherosclerotic plaque is usually initiated by \_\_\_\_\_ leading to increase in \_\_\_\_.</p>

A

<p>subtle intimal injury

permeability of lipoproteins</p>

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115
Q

<p>What percent of the population has a complete circle of willis?</p>

A

<p>20%</p>

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116
Q

<p>What is the most common cause of TIA?</p>

A

<p>platelet–fibrin embolus from an ulcerative atherosclerotic plaque</p>

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117
Q

<p>What is the most cause of death in stroke patients?</p>

A

<p>MI</p>

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118
Q

<p>What are Gitter cells?</p>

A

<p>lipid laden macrophages seen on day 5-7 following ischemic stroke</p>

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119
Q

<p>What is pseudolaminar cortical necrosis?</p>

A

<p>caused by generalized hypoxia; middle cortical layers are affected (layers 3, 5, and 6)</p>

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120
Q

<p>Lacunar strokes count for \_\_\_\_\_\_ percent of strokes.</p>

A

<p>20</p>

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121
Q

<p>Moyamoya in children usually presents with \_\_\_\_\_ and in adults with \_\_\_\_\_.</p>

A

<p>ischemia/transient weakness

hemorrhage</p>

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122
Q

<p>Which NF is associated with multi-vascular abnormalities?</p>

A

<p>NF 1</p>

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123
Q

<p>Klippel Traneuy Weber is associated with what vascular abnormality?</p>

A

<p>spinal AVMs and carotid aplasia</p>

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124
Q

<p>What is seen on angiogram in fibromuscular dysplasia?</p>

A

<p>string of beads appearance</p>

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125
Q

<p>FMD most commonly affects which vessels?</p>

A

<p>cervical ICA (75%), vertebral artery (25%), and renal arteries</p>

126
Q

<p>What does CADASIL stand for?</p>

A

<p>Cerebral autosomal dominant inherited arteriopathy with subcortical infarcts and leukoencephalopathy</p>

127
Q

<p>What mutation is associated with CADASIL?</p>

A

<p>notch 3 gene on Ch 19</p>

128
Q

<p>Where is the most common place for carotid dissection?</p>

A

<p>2 cm above the carotid bulb</p>

129
Q

<p>What is the most common place for vertebral artery dissection?</p>

A

<p>between C2 and occiput</p>

130
Q

<p>What is Raeder's syndrome?</p>

A

<p>Unilateral headache and face pain of the V1 and V2 distributions and Horner’s syndrome

ICA may be narrowed by sinusitis, arteritis, or dissection</p>

131
Q

<p>What is the most common necrotic vasculitis with CNS lesions?</p>

A

<p>polyarteritis nodosa</p>

132
Q

<p>What is polyarteritis nodosa?</p>

A

<p>necrotic vasculitis; affects small and medium sized arteries

causes polyneuropathy by obliteration of vaso nervosum, microaneurysms (70%), skin purpura, renal dysfunction</p>

133
Q

<p>What is seen on pathology for temporal arteritis?</p>

A

<p>mononuclear cell inflammation of all three layers with multinucleated giant cells and resorption of the internal elastic lamina</p>

134
Q

<p>Steroids in temporal arteritis has what outcome?</p>

A

<p>decreases risk of blindness</p>

135
Q

<p>What is takayasu arteritis?</p>

A

<p>occlusive thromboaortopathy with giant cell arteritis affecting the aortaand its branches and the pulmonary arteries causing stenosis and aneurysms

decreased peripheral pulses (pulseless disease)</p>

136
Q

<p>How do you treat Wegner's granulomatosus?</p>

A

<p>cyclophosphamide</p>

137
Q

<p>Which vasculitis is closely linked with smoking?</p>

A

<p>Buerger disease</p>

138
Q

<p>What is Behcet disease?</p>

A

<p>recurrent inflammatory disease with male predominance that affects arteries and veins

characterized by oral and genital ulcers, UC, aneurysm thrombophlebitis, erythema nodosum, polyarthritis</p>

139
Q

<p>What is the triad of TTP? Pentad?</p>

A

<p>severe thrombocytopenia, microangiopathic hemolytic anemia, and neurologic dysfunction

fever and renal dysfunction</p>

140
Q

<p>What causes TTP?</p>

A

<p>deficiency in ADAMTS13, von-Willibrand factor protease</p>

141
Q

<p>What are Charcot Bouchard aneurysms?</p>

A

<p>form on the lenticulostriate arteriesdilated perivascular spaces, état lacunaire (in the centrum semiovale), and état criblé (in the basal ganglia), which form lacunae with gliosis but no symptomscan cause hypertensive ICH</p>

142
Q

<p>What is Binswanger disease?</p>

A

<p>form on the lenticulostriate arteries. There are dilated perivascular spaces, état lacunaire (in the centrum semiovale), and état criblé (in the basal ganglia), whichform lacunae with gliosis but no symptoms</p>

143
Q

<p>What are the five most common areas for hypertensive hemorrhages?</p>

A

<p>putamen (60%), thalamus (20%), pons (10%), cerebellum (near the dentate, 5%), and subcortical white matter (2%)</p>

144
Q

<p>Amyloid is \_\_\_\_\_\_ on birefringence when stained with \_\_\_\_\_.</p>

A

<p>yellow-green</p>

<p></p>

<p>congo red dye</p>

145
Q

<p>What is seen on pathology for amyloid angiopathy?</p>

A

<p>Blood vessels become dilated with thick walls containing pink amorphous material</p>

146
Q

<p>What percent of MI patients treated with thrombolytics develop intracranial hemorrhage? What's the mortality?</p>

A

<p>1%</p>

<p></p>

<p>60% mortality</p>

147
Q

<p>Why does the germinal matrix hemorrhage in premature infactns?</p>

A

<p>involutes by week 36 usually,. hemorrhage from hypoxia/ischemia of the deep border zone that supplies the germinal matrix</p>

148
Q

<p>What is the grading for germinal matrix hemorrhages?</p>

A

<p>Grade 1: limited to the germinal matrix.</p>

<p></p>

<p>Grade 2: blood in the ventricles, but no increase in ventricular size.</p>

<p></p>

<p>Grade 3: blood in the ventricles with hydrocephalus.</p>

<p></p>

<p>Grade 4: intraparenchymal extension of the hemorrhage</p>

149
Q

<p>What is seen on pathology with capillary telangiectasias?</p>

A

<p>multiple normal sized thin vascular spaces, without muscle in the wall, with normal brain in between</p>

150
Q

<p>In HHT, the mucocutaenous lesions are \_\_\_\_\_\_ and the brain lesions are \_\_\_\_\_.</p>

A

<p>telangiectasia</p>

<p></p>

<p>AVM</p>

151
Q

<p>What is the most common vasculature malformation?</p>

A

<p>venous malformations</p>

152
Q

<p>What is the most common location for a venous malformation?</p>

A

<p>at the angle of the ventricle</p>

153
Q

<p>Multiple vascular malformations are associated with what syndrome?</p>

A

<p>blue rubber nevus syndrome</p>

154
Q

<p>Venous varixes are associated with \_\_\_\_\_.</p>

A

<p>AVMs</p>

155
Q

<p>What is a sinus pericranii?</p>

A

<p>A large communication between intracranial and extracranial veins;congenital or traumatic</p>

<p></p>

<p>soft mass that changes with head position</p>

156
Q

What is McCune Albright syndrome?

A

unilateral polyostotic disease with endocrinopathy

157
Q

What is the McGregor Line?

A

line from the hard palate to the most caudal portion of the occipital curve, odontoid tip should be < 4 mm above the line

158
Q

What is the McRae line?

A

foramen magnum diameter 35 ± 4 mm

159
Q

What is the Chamberlin line?

A

diagonal line from the hard palate to the posterior foramen magnum, the odontoid should not have ⅓one third of its length above it

160
Q

What is platybasia?

A

Flattened skull base with an increased angle of the clivus to the spine or clivus to the anterior fossa > 135 degreesassociated with basilar invagination and Chiari malformation

161
Q

What are wormian bones? When are they seen?

A

Small intrasutural bones, usually in the lambdoid sutureseen with cleidocranial dysostosis, cretinism, osteogenesis imperfecta, chronic hydrocephalus, and as a normal variant

162
Q

Foramen magnum lesions typically cause weakness in what pattern?

A

ipsilateral UE -> ipsilateral LE -> contralateral LE -> contralateral UE

163
Q

Honeycomb pattern with radiating spicules in the skull is associated with ____.

A

hemangioma

164
Q

What is the most common cause of tethered cord?

A

spinal lipoma

165
Q

What percent of spinal lipomas are lipomyelomeningoceles?

A

85%

166
Q

Intradural lipoma is most commonly found in the _____.

A

cervical and thoracic spine

167
Q

What filum thickness suggests possible tethered cord?

A

Filum > 1.5 mm in diameter

168
Q

What constitutes caudal regression syndrome?

A

consists of lumbosacral agensis, imperforate anus, genital malformations, renal dysplasia, and fused legs (sirenomelia)

169
Q

Anterior sacral meningocele is associated with what syndromes?

A

NF1 and marfan’s syndrome

170
Q

What is the most common presacral mass in children?

A

sacrococcygeal teratoma

171
Q

What is split notochord syndrome?

A

persistent connection exists between the gut and the dorsal ectoderm; may be caused by an adhesion between the endoderm and ectoderm

172
Q

What is diastematomyelia?

A

split cord with fibrous, bony (50%), or cartilaginous septum

173
Q

What percent of patients with diastematomyelia have a single dural tube?

A

50%

174
Q

What causes enterogenous cysts?

A

failure of the notochord and foregut to separate

175
Q

What is the most common location for enterogenous cysts? Where within the spinal canal are they located?

A

Thoracic followed by cervicalintradural, extramedullary

176
Q

<p>Spinal bone marrow before the age of 7 contains more \_\_\_\_\_ marrow and therefore \_\_\_\_ on MRI.</p>

A

<p>redenhances</p>

177
Q

<p>Osteoid osteomas are most commonly found in the spine at \_\_\_\_\_\_\_.</p>

A

<p>lumbar neural arch (rarely in the bodies)</p>

178
Q

<p>What is usually seen on CT with osteoid osteomas?</p>

A

<p>dense sclerotic bone around a lytic lesion with a central calcified nidus of osteoid and woven boneless than 2 cm (if bigger, think osteoblastoma)</p>

179
Q

<p>Which bone tumor pain responds to ASA?</p>

A

<p>osteoid osteoma</p>

180
Q

<p>What is the most common location for an osteoblastoma in the spine?</p>

A

<p>cervical spine, posterior elements</p>

181
Q

<p>Giant cell tumors are rare in the spine but if present, the most common location is the \_\_\_\_.</p>

A

<p>Sacrum</p>

182
Q

<p>Where is the most common location for osteochondroma in the spine?</p>

A

<p>C2 spinous process or transverse processes at other levels</p>

183
Q

<p>Where do osteochondromas arise from and how do the appear on imaging?</p>

A

<p>lateral displacement of the epiphyseal growth cartilage and have a bony projection with a medullary cavity contiguous with the parent bone and covered with cartilage</p>

184
Q

<p>Where is the most common location for aneurysmal bone cysts in the spine?</p>

A

<p>posterior elements of cervical and thoracic spine</p>

185
Q

<p>When is seen on imaging of aneurysmal bone cysts?</p>

A

<p>multiloculated, expansile, lytic, vascular, and surrounded by eggshell cortical bone and no calcifications</p>

186
Q

<p>What is seen on microscopic evaluation of aneurysmal bone cysts?</p>

A

<p>reveals thin-walled blood cavities without endothelium or elastic lamina and frequent multinucleated giant cells</p>

187
Q

<p>Eosinophilic granuloma is in the \_\_\_\_\_\_\_ group of diseases and classically is a cause of \_\_\_\_\_\_ in the spine.</p>

A

<p>Langerhans cell histiocytosis</p>

<p></p>

<p>vertebrae plana</p>

188
Q

<p>What is the key phrase for chordoma on pathology?</p>

A

<p>physaliphorous cells</p>

189
Q

<p>What is the most common primary sacral tumor?</p>

A

<p>chordoma</p>

190
Q

<p>What is seen on CT with osteosarcoma?</p>

A

<p>matrix calcifications with a sunburst pattern</p>

191
Q

<p>What are the three most common metastatic tumors to the epidrual space in the spine in adults? In children?</p>

A

<p>breast, lung, prostate</p>

<p></p>

<p>Ewing's sarcoma, neuroblastoma</p>

192
Q

<p>Which mets to the spine can be sclerotic/blastic?</p>

A

<p>breast and prostate</p>

193
Q

<p>Epidural lipmatosis is associated with \_\_\_\_\_.</p>

A

<p>obesity and steroid use</p>

194
Q

<p>What is the most common spinal tumor?</p>

A

<p>Nerve sheath tumors, particularly schwannomas</p>

195
Q

<p>What percent of patients with nerve sheath tumors have NF?</p>

A

<p>40%</p>

196
Q

<p>Within the spinal canal, which compartment do nerve sheath tumors lie in?</p>

A

<p>intradural/extramedullary (70%), extradural (15%), dumbbell (15%), and intramedullary (1%)</p>

197
Q

<p>Meningiomas account for what percent of spinal tumors?</p>

A

<p>25%</p>

198
Q

<p>In what compartment do meningiomas lie within the spine?</p>

A

<p>intradural (90%), extradural (5%), and dumbbell (5%)</p>

199
Q

<p>Paragangliomas in the spine are rare but if found, are most commonly in \_\_\_\_.</p>

A

<p>cauda equina</p>

200
Q

<p>Neurenteric cysts in the spine are generally located in the \_\_\_\_\_ spine and are \_\_\_\_ to the cord.</p>

A

<p>throacic</p>

<p></p>

<p>ventral</p>

201
Q

<p>Intradural metastatic spinal cord tumors (including primary CNS tumors) have a mortality rate of \_\_\_\_ in \_\_\_\_\_.</p>

A

<p>80% in 4 months</p>

202
Q

<p>What is the most common intramedullary tumor in adults?</p>

A

<p>ependymoma (60%)</p>

203
Q

<p>In the spnie, cellular ependymomas are most commonly in the \_\_\_\_\_ while myxopapillary are most commonly in the \_\_\_\_.</p>

A

<p>cervical</p>

<p></p>

<p>conus/filum</p>

204
Q

<p>What is the most common intramedullary spinal tumor in children?</p>

A

<p>astrocytoma</p>

205
Q

<p>What subtype of astrocytoma is most commonly in the spine?</p>

A

<p>fibrillary</p>

206
Q

What is the most common location for aneurysms in the spine?

A

ASA in the cervical or thoracic spine

207
Q

What is the difference between an AVM and an AVF?

A

AVM has true nidus, AVF does not

208
Q

What is the most frequent spinal AVM?

A

AVF

209
Q

Where is the most common location for type 1 spinal AVMs?

A

dorsal lower thoracic or upper lumbar spine

210
Q

What defines a type 1 spinal AVM?

A

actually a dural AVF; single transdural arterial feeder that goes to an intradural arterialized vein over multiplesegmentsusually rostral venous drainagenidus is in or adjacent to the dura around a nerve root

211
Q

Symptoms from type 1 spinal AVMs are generally caused by _____.

A

venous hypertension

212
Q

A good surgical outcomes is achieved in _____ percent of type 1 spinal AVMs.

A

88%

213
Q

What are the pressures and flows for all types of spinal AVMs?

A

Type 1: low pressure, low flowType 2: high flow, high pressureType 3: high flow, high pressureType 4: low pressure, high flow

214
Q

Which type of spinal AVM is associated with aneurysm?

A

type 3 juvenile

215
Q

What defines a type 2 (glomus) spinal AVM?

A

congenital; intramedullary with multiple feeders draining into a venous plexus around the cord

216
Q

Where are type 2 (glomus) spinal AVMs usually located?

A

dorsal cervicomedullary

217
Q

What defines a type 3 (juvenile) spinal AVM?

A

congenital; involves entire cross section of the cordlarge intramedullary and extramedullary malformation with multiple extrapinal feeders; bidirectional venous drainage

218
Q

A good surgical outcomes is obtain in _____ perfect of type 3 (juvenile) spinal AVMs.

A

50%

219
Q

What defines a type 4 spinal AVM?

A

intradural/extramedullary AVF; congenitalanterior to spinal cord fed by ASA

220
Q

Where are type 4 spinal AVMs usually located?

A

near the conus

221
Q

Which spinal AVMs are acquired? Which are congential?

A

Acquired: type 1Congenital: types 2, 3, 4

222
Q

What is Foix Alajouanine syndrome?

A

Subacute necrotizing myelitis, especially in the gray matter, usually with a type 1 AVM, and caused by venous hypertensionpresents as spastic and then flaccid paraplegiawith an ascending sensory loss and loss of sphincter control

223
Q

What is Klippel Trenaunay Weber syndrome?

A

spinal cord AVM with a cutaneous vascular nevus and an enlarged finger or upper limb (if cervical)

224
Q

Cav mal in the spine is usually located in the _____ spine.

A

thoracic

225
Q

Which region of the spinal cord is most often affected in spinal cord stroke?

A

mid thoracic

226
Q

What is decompression sickness? What is the classic neurologic spinal presentation?

A

Intravascular accumulation of N2 with vessel obstructionfrequently causes spinal cord dysfunction in the posterior columns of the thoracic cord

227
Q

What are the most common causes of pyogenic spinal infections?

A

Staph aureus (60%) and Enterobacter (30%)

228
Q

What is the most common route of spread of infection to the spine?

A

hematogenous

229
Q

The spine is involved in ____ of TB cases.

A

6%

230
Q

In the acute stage of transverse myelitis, the MRI is normal in _____ of patients.

A

50%

231
Q

Radiation myelopathy usually occurs following radiation to ______.

A

nasopharyngeal carcinoma in the cervical spine

232
Q

What is pathologically seen in radiation myelopathy?

A

coagulative necrosis affecting the white matter more than the gray matter and thrombosed hyalinized vessels

233
Q

On MRI, what do post radiation changes to vertebral bodies look like? Why?

A

T1 hyperintensityincreased fat content

234
Q

What’s another name for ankylosing spondylitis?

A

Marie-Strumpell disease

235
Q

Ankylosing spondylitis is associated with HLA ___.

A

B27

236
Q

The bamboo spine in AS is due to ______.

A

syndesmophytes and zygapophyseal joint fusion

237
Q

Thoracic discs account for ____ percent of herniated discs and ____ percent are assymptomatic.

A

1%15%

238
Q

What percent of herniated discs are foraminal? Far lateral?

A

3%4%

239
Q

What is a Schmorl’s node?

A

disc herniation through the endplate; seen in 75% of normal population

240
Q

Spondylosis is present in ____ percent of the population over 50 years old.

A

70%

241
Q

What are Sharpey fibers?

A

where the annulus is connected to the bone

242
Q

Lumbar stenosis is most commonly due to hypertrophy of _____.

A

Superior articulating process

243
Q

What is the normal cervical spine diameter?

A

18 mm

244
Q

Congenital spinal stenosis is seen in what two syndromes?

A

achondorplasia and Morquio syndrome

245
Q

What are the most common places for degenerative spondylolisthesis?

A

L4-L5 (66%) and L5-S1 (30%)

246
Q

What are tarlov cysts?

A

nerve root cysts most common in sacral spine along dorsal nerve roots

247
Q

A Charcot shoulder joint is highly suspicious for what neurologic finding?

A

cervical syrinx

248
Q

Cord compression in Morquio syndrome is often do to a ______.

A

hypoplastic dens

249
Q

In trauma, anterior cord syndrome is secondary to ____.

A

hyperflexion injury

250
Q

In trauma, central cord syndrome is generally secondary to ______.

A

hyperextension injury

251
Q

What is the role for steroids in nonpenetrating spinal cord injury?

A

methylprednisolone 30 mg/kg over 1 hour, followed by 5.4 mg/kg/hour for 23 hours if started within 3 hours of the injury or for 47 hours if started between 3 and 8 hours of injury to help decrease secondary injury

252
Q

In AO dislocation, what is the Power’s ration? Dens-basion distance?

A

> 112 mm

253
Q

What is the Power ratio?

A

distance of the basion (B) to the posterior arch of the atlas (C) divided by the distance of the anterior arch of the atlas (A) to the opisthion (O)

254
Q

What is a Jefferson’s fracture? Stable or unstable?

A

b/l fx through the anterior and posterior arches of C1stable unless transverse ligament disrupted

255
Q

Rotary atlantosubluxation is when ______ and is associated with _______.

A

C1 rotated over 45 degrees over C2flexion injuries, RA, Tonsilitis/pharyngitis (Grisel’s syndrome)

256
Q

Hangman’s fracture is _____ and is caused by ______.

A

C2 traumatic spondylolisthesis with b/l pars fxshyperextension

257
Q

Wallerian degeneration occurs (proximal/distal) to the site of injury.

A

distal

258
Q

What are the Bands of Bungner?

A

proliferation of Schwann cells under the old basal lamina of a nerve with axons growing inside

259
Q

What is segmental demyelination?

A

Scattered demyelination with replacement by thinner myelin and shorter variable internodes (normally the nodes of Ranvier have a set internodal length)relative axonal sparing

260
Q

What kind of demyelination is seen with diptheria?

A

segmental

261
Q

Porphyria causes what type of neuropathy?

A

Rapid, severe, symmetric, motor > sensory loss, bilateral brachial weakness

262
Q

Uremia causes what type of neuropathy?

A

painless, symmetric, sensorimotor, lower > upper limbs

263
Q

In GBS, pathologic examination reveals _____.

A

perivascular mononuclear infiltrates and segmental demyelination

264
Q

When is the protein peak seen in GBS on CSF?

A

5 weeks

265
Q

What do nerve conduction studies show in GBS?

A

decreased velocity and amplitude

266
Q

What percent of GBS patients have severe/permanent weakness?

A

10%

267
Q

Experimental allergic neuritis is caused by _____.

A

T cell mediated attack of P2 protein

268
Q

What is the inheritance of Dejerine Sottas? What type of disease is it?

A

ARhereditary/hypertrophic (onion bulb) neuropathy

269
Q

What is the inheritance of Refsum’s disease?

A

AR

270
Q

What is Refsum’s disease?

A

a type of hereditary/hypertrophic (onion bulb) neuropathydeficiency in phytanic acid oxidase

271
Q

What is neuropraxia?

A

functional but no structural damage (nerve concussion) with temporary loss of function that may last 6–8 weeks

272
Q

What is axonotemesis?

A

interruption of axons and myelin with intact perineurium and epineuriumspontaneous regeneration may occur at 1–2 mm/day

273
Q

What is neurotemesis?

A

transection of the nerve and nerve sheathaxonal regeneration may lead to neuroma formation

274
Q

Acute ophthalmoplegia can be seen in what metabolic disease? What is the mechanism?

A

diabetesischemia of the vaso nervosum

275
Q

What is a Morton neuroma?

A

traumatic neuroma that forms on the digital nerve between the toes

276
Q

What is Brachial Plexitis?

A

Idiopathic onset of upper limb pain and weakness that usually resolves in 6 to 12 weeks; there is no fever, leukocytosis, or elevated ESR

277
Q

In carpal tunnel syndrome, what causes the compression?

A

transverse carpal ligament

278
Q

What causes cubital tunnel syndrome?

A

caused by compression of the ulnar nerve under the two heads of the flexor carpi ulnaris

279
Q

What is posterior interosseous syndrome?

A

Causes weakness of the radial-innervated forearm and hand muscles (supinator, extensor digitorum, extensor carpi ulnaris, and abductor pollicis longus). No sensory loss. It causes a finger drop without a wrist drop because of sparing of the extensor carpi radialis longus

280
Q

What is anterior interosseous syndrome?

A

Pure weakness without sensory loss caused by compression of the anterior interosseous branch of the median nerve in the deep forearm. It involves the pronator quadratus, flexor pollicis longus, and flexor digitorum profundus 2 and 3 (FDP 4 and 5 are innervated by the ulnar nerve). Patients are unable to form the “okay” sign and demonstrate the “pinched” sign

281
Q

What is meralgia paresthetica?

A

Compression of the lateral femoral cutaneous nerve (L2, 3) under the inguinal ligament. It causes anterolateral thigh numbness and dysesthesia. It is associated with obesity, pregnancy, and diabetes.

282
Q

What is tarsal tunnel syndrome?

A

Compression of the tibial nerve with paresthesias of the sole of the foot without motor changes

283
Q

Patients with b/l CN VII nerve palsies are suspicious for ______.

A

GBS and Lyme disease

284
Q

On clinical exam, what distinguishes botulism from Myesthenia gravis?

A

botulism has unreactive pupils, MG has reactive

285
Q

What are the differences between type 1 and type 2 muscle fibers?

A

type 1: red, slow, aerobic metabolismtype 2: white, fast, anaerobic

286
Q

In the sarcomere unit, which bands shorten with contraction?

A

H and I bands

287
Q

Steroids cause atrophy of what muscle fibers?

A

type 2

288
Q

What is the inheritance of Duchenne and Becker’s MD?

A

XR

289
Q

What is seen on biopsy for Duchenne MD?

A

muscle fiber necrosis and regeneration

290
Q

What is the inheritance of Facioscapulohumeral dystrophy? What chromosome is affected?

A

ADCh 4

291
Q

What is the only MD with chronic inflammatory cells in the muscle?

A

Facioscapulohumeral dystrophy

292
Q

What is the most common MD in adults? Whats the inferitance?

A

Myotonic MDAD

293
Q

What is the genetics of myotonic MD?

A

trinucleotide repeat on Ch 19

294
Q

What is the treatment for myotonic MD?

A

quinine or procainamide or phenytoin

295
Q

What are some key clinical characteristics of myotonic MD?

A

muscles are unable to relax after contraction (myotonia), dysrhythmias, decreased intelligence, cataracts (90%), endocrine dysfunction (with testicular atrophy), temporalis and masseter atrophy, and frontal balding in both sexes

296
Q

The inheritance of the glycogen storage diseases is _____.

A

AR

297
Q

What is Pompe disease?

A

infantile form of acid maltase deficiency

298
Q

What is the deficiency in McArdle’s disease?

A

myophophorylase deficiency

299
Q

What are the symptoms of McArdle’s disease?

A

muscle cramps with activity

300
Q

Phosphofructokinase is similar to what disease?

A

McArdle’s disease

301
Q

What type of disease is Lafora’s disease?

A

glycogen storage disease

302
Q

Which two diseases have lipid storage in vacuoles?

A

carnitine deficiency and Fabry disease

303
Q

What is the inheritance of malignant hyperthermia?

A

AD

304
Q

What is the mechanism of action of dantrolene?

A

reducing the Ca2+ release from the sarcoplasmic reticulum

305
Q

What is the defect in malignant hyperthermia?

A

defect in a Ca2+ release channel (ryanodine receptor) with increased Ca2+ release from the sarcoplasmic reticulum

306
Q

What is the cause for bacterial myositis?

A

staph aureus

307
Q

What is the most frequent acquired inflammatory myopathy in adults?

A

polymyositis

308
Q

What is seen on biopsy in polymyositis?

A

T cells and macrophages in the muscle fibers; inflammation in the endomysium

309
Q

What percent of dermatomyositis is associated with cancer?

A

15%

310
Q

Inclusion body myositis has what type of inclusion?

A

intranuclear inclusion