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Lecom pathology year 2 > Chapter 27- PNS > Flashcards

Chapter 27- PNS Flashcards

1
Q

What disorder should be thought of with heliotrope rash and malar rash

A

Dermatomyositis

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2
Q

What disorder can appear very similar to SLE with a positive ANA and hallmark of anti-jo-1 antibody

A

Dermatomyositis

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3
Q

What is the major characteristic of X-linked muscular dystrophy

A

Replacement of skeletal muscle by adipose tissue

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4
Q

What is the typically first presentation of X-linked muscular dystrophy

A

Proximal muscle weakness at 1 year of age

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5
Q

What disorder should be thought of with pseudohypertrophy, especially in calves

A

X-linked muscular dystrophy

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6
Q

What disorder is characterized as autoantibodies against postsynaptic Ach receptor at NMJ

A

Myasthenia gravis

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7
Q

What disorder is characterized by muscle weakness that worsens with use and improves with rest

A

Myasthenia gravis

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8
Q

What NMJ disorder is associated with thymic issues

A

Myasthenia gravis

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9
Q

What disorder is characterized by antibodies against presynaptic calcium channels at NMJ

A

Lambert-seton syndrome

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10
Q

What paraneoplastic syndrome is lambert-Eaton syndrome most commonly due to

A

Small cell carcinoma

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11
Q

How does lambert-Eaton syndrome resolve

A

Resection of the cancer

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12
Q

What axonal neuropathy is associated with myelin ovoids

A

Wallerian degeneration

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13
Q

What type of axonal neurodegeneration can produce the pseudotumor called traumatic neuroma

A

Wallerian degeneration

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14
Q

What is the term for non-neoplasticism haphazard whirled proliferation of axonal processes and associated schwann cells that results in painful nodules

A

Traumatic neuroma

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15
Q

What is a common cause of mononeuritis multiplex

A

Vasculitis

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16
Q

What are some common causes of neuronopathies

A

Infections like HSV and toxins like platinum compounds

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17
Q

What level is neuronopathy damage at

A

Level fo cell body

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18
Q

What do peripheral axonopathies preferentially affect

A

Distal extremities

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19
Q

What are the majority of Guillain-Barré syndrome preceded by

A

Flu-like illness

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20
Q

What disorder has the clinical presentation of weakness beginning in distal limbs that rapidly advances to affect proximal muscle function (ascending paralysis)

A

Gullain-barre syndrome

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21
Q

What is the major characteristic of chronic inflammatory demyelination for polyradiculoneuropathy

A

Symmetrical mixed sensorimotor polyneuropathy that persists for 2+ months

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22
Q

What distinguishes chronic inflammatory demyelination from polyradiculoneuropathy from guillain-barre

A

Time course and response to steroids

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23
Q

What inflammatory neuropathy is associated with onion bulbs

A

Chronic inflammatory demyelination polyradiculoneuropathy

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24
Q

Where is the symmetric polyneuropathy with lepromatous leprosy most severe

A

In relatively cool distal extremities and in face because lower temperature favors mycobacterial growth

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25
Q

Where does lepromatous leprosy predominate (like what cells)

A

Pain fibers

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26
Q

What dysfunction is prominent with diptheria

A

Prominent bulbar and respiratory muscle dysfunction

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27
Q

What is the most common cause of peripheral neuropathy

A

Diabetes

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28
Q

What dysfunctions of the ANS are common with diabetic neuropathy

A

Postural hypotension, incomplete emptying of bladder, sexual dysfunction

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29
Q

What is the primary event in uremic neuropathy

A

Axonal degeneration

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30
Q

What tumors often lead to brachial plexopathy

A

Neoplasms of lung

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31
Q

What neoplasms often lead to obturator palsy

A

Pelvic malignant neoplasms

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32
Q

Polyradiculopathy involving LE may develop when the cauda equina is involved by _______

A

Meningeal carcinomatosis

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33
Q

What is the most common paraneoplastic form of paraneoplastic neuropathies

A

Sensorimotor neuronopathy

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34
Q

What is sensorimotor neuronopathy most commonly associated with

A

Small cell lung cancer

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35
Q

What is Charcot-Marie-tooth disease clinical manifested as

A

Distal muscle atrophy, sensory loss and foot deformities

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36
Q

What are some morphological changes that occur with the demyelination groom forms of Charcot-Marie-tooth disease

A

Schwann cell hyperplasia and onion bulb formation

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37
Q

What is CMT1A caused by

A

Duplication of a region of chromosome 17 that includes PMP22 gene

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38
Q

How does CMT1A prevention

A

In 2nd decade of life as slowly progressive distal demyelinating motor and sensory neuropathy

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39
Q

What is CMT1B caused by

A

Mutations in myelin protein zero gene

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40
Q

What is CMTX linked to mutations in

A

GJB1 gene which encodes connexin 32

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41
Q

What type of injury occurs in CMT2

A

Axonal rather than demyelinating injury

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42
Q

What is CMT2A caused by

A

Mutation in MFN2 gene (which is required for normal mitochondrial fusion)

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43
Q

What is hereditary neuropathy with pressure palsy caused by

A

Deletion of gene encoding PMP22

44
Q

What are tomaculi characteristic of

A

Hereditary neuropathy with pressure palsy

45
Q

What gene is involved in familial amyloid polyneuropathies

A

Transthyretin gene

46
Q

What is the mutated gene in familial amyloid polyneuropathies prone too

A

Deposit as amyloid fibrils

47
Q

What nerve is compressed with saturday night palsy

A

Radial nerve

48
Q

How do disorders that impair function of NMJ as a general statement present

A

With painless weakness

49
Q

What disorders should be considered with ragged red fibers and parking lot inclusions

A

Myopathies associated with inborn errors of metabolism

50
Q

What disease of skeletal muscle is associated with telangiectasias and dropout of capillary vessels

A

Dermatomyositis

51
Q

What are the anti Mi2 antibodies involved in dermatomyositis directed against

A

Helicase implicated in nucleosome remodeling

52
Q

What are the anti-jo1 antibodies involved in dermatomyositis directed against

A

Enzyme histidyl t-RNA synthetase

53
Q

What other things is anti-jo1 antibodies associated with besides dermatomyositis

A

Interstitial lying disease, nonerosive arthritis, skin rash (mechanics hands)

54
Q

What cases of dermatomyositis are anti-p155/p140 autoantibodies associated with

A

Paraneoplastic and juvenile cases

55
Q

What muscles does dermatomyositis typically affect first

A

Proximal muscles

56
Q

What is the name for the characteristic lilac colored discoloration of upper eyelids associated with dermatomyositis

A

Heliotrope rash

57
Q

What is the name for the scaling erythematous eruption or dusky red patches over the knuckles, elbows and knees associated with dermatomyositis

A

Gotten papules

58
Q

What cells are a prominent part of the inflammatory infiltrate in affected muscles of polymyositis

A

CD8+ T cells

59
Q

What characteristics of dermatomyositis is absent in polymyositis

A

Perifascicular pattern of atrophy

60
Q

What is the most common inflammatory myopathy in patients 65yo+

A

Inclusion body myositis

61
Q

What disease presents as slowly progressive muscle weakness that tends to be more severe in quads and distal upper extremity muscles

A

Inclusion body myositis

62
Q

What disease of skeletal muscle is associated with cN1A

A

Inclusion body myositis

63
Q

What disease is rimmed vacuoles, tubulofilamentous inclusions and cytoplasmic inclusions associated with

A

Inclusion body myositis

64
Q

What are the leading culprit for toxin myopathies

A

Statins

65
Q

What gene is involved in central-core disease (autosomal dominant)

A

Ryanodine receptor 1 (RYR1)

66
Q

What disease goes along with the pathological finding of cytoplasmic cores represented by demarcated central zones in which the normal arrangement of sarcomeres is disrupted and mitochondria are decreased in number

A

Central core disease

67
Q

What disorder should be thought of with nemaline rods

A

Nemaline myopathy (NEM)

68
Q

What fibers does nemaline myopathy primarily occur

A

Type 1 fibers

69
Q

What is the mean age of death in duchenne MD

A

25-30 yrs

70
Q

What chromosome are dystrophin mutations on

A

X chromosome

71
Q

What is the first indication of muscle weakness with Muscular dystrophy

A

Clumsiness and inability to keep up with peers

72
Q

Where does the weakness begin that is associated with muscular dystrophy

A

Pelvic girdle muscles and extends to shoulder girdle

73
Q

What is myotonic dystrophy caused by

A

Expansion of CTG triplet repeats in 3’ non-coding region of DMPK gene

74
Q

What muscle dystrophy has characteristic pattern of muscle involvement that includes prominent weakness of facial muscles and muscles of shoulder girdle

A

Fascioscapulohumeral dystrophy

75
Q

What is overexpressed with fascioscapulohumeral dystrophy

A

DUX4 on chromosome 4

76
Q

What does carnitine palmitoyltransferase II deficiency cause

A

Episodic muscle damage with exercise and fasting

77
Q

What does carnitine palmitoyltransferase 2 deficiency impair the transport of

A

Free fatty acids into mitochondria

78
Q

What is the glycogen storage disease affecting skeletal muscle that results in episodic muscle damage with exercise

A

Myophosphorylase deficiency (McArdle disease)

79
Q

What does acid Maltese deficiency result in

A

Impaired lysosomal conversion of glycogen to glucose, causing glycogen to accumulate within lysosomes

80
Q

What clinical features are associated with the mitochondrial myopathy of Kearns-Sayre syndrome

A

Ophthalmologist, pigmentary degeneration of retina, complete heart block

81
Q

What does mutations in KCNJ2 cause

A

Andersen-Twail syndrome

82
Q

What is Andersen-Twail syndrome associated with (clinical)

A

Periodic paralysis, heart arrhythmias, and skeletal abnormalities

83
Q

What are mutations in SCN4A associated with causing

A

Several auto disorders with presentation ranging from myotonia to period paralysis

84
Q

What is the most common cause of hypokalemia paralysis

A

Missense mutations in CACNA1S

85
Q

What do mutations in CLC1 cause

A

Myotonia congenita (decrease in myotonia dysotrophy)

86
Q

What ion channel mutation can lead to malignant hyperthermia

A

RYR1

87
Q

What type of channel is KCNJ2

A

K+ channel

88
Q

What type of channel is SCN4A

A

Na+ channel

89
Q

What does Merlin usually do

A

Normally restricts cell-surface expression of growth factor receptor

90
Q

What is the term for dense eosinophilic areas containing spindle cells arranged into cellular intersecting fascicles

A

Antonio A

91
Q

What should you think of when you see antoni A and Verocay bodies

A

Schwannomas

92
Q

Where do most schwannomas occur

A

Cerebellopontine angle

93
Q

What cranial nerve is most often affected by schwannomas

A

CN VIII

94
Q

What is the term for benign, neoplasticism schwann cells admired with perineurial-like cells, fibroblasts, mast cells and CD34+ spindle cells

A

Neurofibromas

95
Q

How do neurofibromas often present

A

As pedunculated nodules

96
Q

What should you associate tactile-like bodies with

A

Diffuse neurofibromas

97
Q

What type of neurofibromas are found in deep or superficial locations in associated with nerve roots or large nerves and is uniformly NF1-associated

A

Plexiform type

98
Q

What type of neurofibromas should be considered with a shredded carrot appearance of collagen

A

Plexiform type

99
Q

What is neurofibromin

A

Tumor suppressor that inhibits RAS activity but stimulating activity of GTPase

100
Q

Are most malignant peripheral nerve sheath tumors high or low grade

A

High grade

101
Q

What do most malignant peripheral nerve sheath tumors result from

A

Malignant transformation of plexiform neurofibromas

102
Q

How do malignant peripheral nerve sheath tumors appear at low power

A

Appears marbilized due to variations in cellularity

103
Q

What type of tumor is a triton tumor

A

Malignant peripheral nerve sheath tumor

104
Q

What should you think of with Lisch nodules and cafe au lait spots

A

Type 1 neurofibromatoses

105
Q

What is the most common tumor with type 1 neurofibromatoses

A

B/L 8th nerve schwannomas and multiple meningiomas

106
Q

What chromosome is NF2 gene located on

A

Chromosome 22

Lecom pathology year 2 (18 decks)

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