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Clinical neuro > Neuromuscular disorders > Flashcards

Neuromuscular disorders Flashcards

1
Q

Myasthenia Gravis

A

Upper extremity weakness

● Ocular muscle weakness

● Diploplia and/or ptosis

● Pt improve with rest

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2
Q

hallmark sign of myasthenia gravis

A

● Hallmark is fluctuating or fatigable weakness that is worse at end of day and during/after

exercise

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3
Q

myasthenia gravis etiology

A

Postsynaptic neuromuscular junction (NMJ) autoimmune disease

ACh antibodies disrupt NMJ in 3 ways

Complement-mediated activation leading to destruction of postsynaptic membrane

Endocytosis of AChR

Direct blockage of ACh binding site

○ Thymus gland

Thymoma= tumor of thymus gland

Removal= rapid relief

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4
Q

how to treat myasthenia gravis

A

● Tx with ACh esterase inhibitors

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5
Q

Lambert-Eaton Myasthenic Syndrome (LEMS)

A

50% will have underlying malignancy→ small cell lung cancer (SCLC)

  • This type is called paraneoplastic
  • Type without malignancy is called non-paraneoplastic

- Both paraneoplastic and non-paraneoplastic forms are associated with P/Q type voltage-gated CA channel (VGCC) antibodies

  • Paraneoplastic onset at age 60
  • Difficulty climbing stairs or rising out of chair
  • Lack of muscle reflex

LEMS often precede tumor detection in the paraneoplastic form

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6
Q

what disease is associated with small cell lung cancer

A

lambert eaton myasthenic syndrome

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7
Q

Lambert-Eaton Myasthenic Syndrome (LEMS) paraneoplastic onset vs non-paraneoplastic onset

A
  • Paraneoplastic onset at age 60

Non-paraneoplastic has 2 peaks

  • First peak at 35 years
  • Second peak at 60 years
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8
Q

Botulism

A

■ Type A or B toxin

○ Hypotonia, dysphagia, loose stool ○ Most numerous cases in Alaska

■ Old canned food

INFANTILE

○ Etiology

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9
Q

where is botulism common?

A

alaska

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10
Q

Neurofibromatosis Type I (NF1)

A

Aka von Recklinghausen Disease

- Genetic mutation in NF1 gene encoding neurofibromin

- Neurofibromin

  • tumor suppressor
  • downregulates p21-RAS oncoprotein

Neurofibroma: benign tumor of schwann cell

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11
Q

what diesease is from a genetic mutation in NF1 gene

A

neurofibromatosis type 1

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12
Q

what does neurofibromin downregulate?

A

NF1

it is a tumor suppressor that downregulates p21-RAS oncoprotein

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13
Q

what are cafe au lai spots

A

Neurofibromatosis Type I (NF1)

  • Cafe-au-lai-spots: well demarcated cutaneous hyperpigmentations
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14
Q

what is iris hamartoma

A

Neurofibromatosis Type I (NF1)

Iris hamartoma (Lisch nodule): pigmented aggregate of dendritic melanocytes affecting

the eye

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15
Q

complications of neurofibromatosis type 1

A

Glioma (tumor) of optic nerve, increased risk for meningioma

  • Most severe is neurofibrosarcoma
  • The fibrosarcomas go from benign growths to malignant
  • Ex: plexiform neurofibroma
  • Affects cervical nerve root and brachial plexus - Ex: MPNST (malignant peripheral sheath tumor)
  • Large mass originating in flank region
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16
Q

Neurofibromatosis Type 2 (NF2)

A

Aka central neurofibromatosis

  • Autosomal dominant
  • Bilateral tumors of CN8 (acoustic)

- Most vestibular schwannomas are unilateral and not associated with NF

- **bilateral vestibular schwannomas are pathognomonic of NF2

- Unilateral acoustic neuromas are also characteristic of NF2

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17
Q

what is disease is called central neurofibromatosis

A

Neurofibromatosis Type 2 (NF2)

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18
Q

what CN is associated with Neurofibromatosis Type 2 (NF2)

A

CN8 acoustic

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19
Q

what is Neurofibromatosis Type 2 (NF2) etiology

A

Mutation in NF2 gene at 22a12

  • Problem with encoded protein Merlin (schwannomin)
  • Fxns as tumor suppressor
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20
Q

Neurofibromatosis Type 2 (NF2) mutation causes

A

Mutation in NF2 gene at 22a12

  • Problem with encoded protein Merlin (schwannomin)
  • Fxns as tumor suppressor
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21
Q

Vestibular Schwannoma

A

Benign and slow growing

  • Unilateral
  • Not associated with NF!
  • Originate from vestibular branch of CN8
  • Hearing loss, tinnitus, headache
  • Hydrocephalus
  • Increased intracranial pressure
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22
Q

Spinal and Peripheral Schwannoma

A

schwannoma→ mass arising from nerve sheath of schwann cell

Spinal

  • Originate from dorsal spine root
  • Radicular pain
  • Spinal cord compression

Peripheral

  • Originate on nerves of head, neck, extremities
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23
Q

○ Down syndrome (Trisomy 21)

A

Nondisjunction in 1st meiotic division

T21

Myeloid proliferations

Epicanthic fold (eyelid)

Small nasal bridge

Transverse (Simian) crease - palm of hands

24
Q

○ Edwards Syndrome (Trisomy 18 aka Patau Syndrome)

A

Mental retardation

Congenital heart disease

Die in 3 months

Rocker bottom foot

Spine anomalies

Hand clenched with overlapping fingers

25
Q

○ Patau Syndrome (Trisomy 13)

A

Cardiac defects

Hallmark: Holoprosencephaly

● Alobar

● Facial abnormalities

● Hypotelorism or cyclopia

● Midline or bilateral cleft lip/palate

26
Q

what disease has holoprosencephaly

A

patau syndrome trisomy 13

27
Q

5P-Syndrome (Cri Du Chat):

A

Baby cries - sounds like a kitten (high pitched)

● Microcephaly

● Facial Dysmorphology

○ Hypertelorism (separation between organs or body parts):

Low set ears

Small jaw

Rounded face

● Deleted gene CTNND2 (chromosome 5)

○ Intellectual disability

28
Q

Types of imprinting

A

● Genomic - some genes get inactivated

● Maternal - transcriptional silencing of maternal allele

● Paternal - paternal allele inactived

● “Imprinting” - methylation of gene to turn it off

29
Q

Multifactorial inheritance

A

● Polydactyly - extra digits

● Syndactyly - fusion of digits

● Cleft lip and palate

30
Q

Errors/Morphogenesis

A

● Malformations - primary errors of morphogenesis

● Teratogens - chemicals that cause developmental anomalies

● Polytopic effect - when noxious stimulus affects several organs in critical stages of

development

● Monotopic effects - single localized anomaly that results in cascade of pathogenetic

effects

● Potter complex - developmental sequence anomaly

31
Q

● TORCH Complex

A

Maternal infections

○ Toxoplasma, Others, Rubella, Cytomegalovirus, Herpes simplex virus

32
Q

neural tube defects

A

● Meningocele - only CSF

● Myelomeningoceles - Neural elements

● Myeloschisis - spinal cord + nerve roots

● Anencephaly - brain is missing

33
Q

vestibular schwannoma/acoustic schwannoma

A

origin is vesticular branch of CN 8

at cerebellopontine angle tumor

unilateral

most vestibular schwannomas are unilateral and not associated with neurofibromatosis

34
Q

meiningocels vs myelomeningoceles

A

Meningoceles (white solid arrow) contain only cerebrospinal fluid, while myelomeningoceles (white curved arrow) also contain neural elements

35
Q

typical location of a myelomeningocele

A

within the lumbosacral region

36
Q

The most common location for spina bifida

A

lumbar, followed by sacrum

37
Q

Maternal infections- TORCH Complex

A

CMV infection is associated with abnormal erythropoiesis and hemolytic anemia

numerous periventricular (black solid arrow) and basal ganglia (black curved arrow) calcifications

38
Q

Anencephaly

A
  • Dysraphic defect of neural tube closure
  • Congenital absence of cranial vault
  • Cerebral hemispheres completely missing or reduced to small masses attached to the base of the skull
39
Q

Essential information for Primary Central Nervous System (CNS) Tumors

A

Patient age and gender

Anatomic location and compartment of the lesion

Neuroimaging (computed tomography, magnetic resonance imaging) features

Nature and time course of presenting signs and symptoms

Relevant clinical history

40
Q

two most common brain tumors of childhood are

A

medulloblastoma and Pilocytic Astrocytoma

41
Q

•Anatomic localization of brain lesions includes two components:

A
  • Region of the CNS involved
  • Cerebrum, Cerebellum or Spinal cord
  • Compartment(s)
  • Intraparenchymal (e.g., within the brain substance), intraventricular or intradural–extra-axial (within the spinal subarachnoid space)
42
Q

Most Common Central Nervous System Tumors

A

Meningiomas

43
Q

Meningioma definition

A

•Neoplasm arising from meningothelial (arachnoid) cells, that form the outer boundary of the Subarachnoid space

44
Q

where do meningiomas arise

A

•Can arise at any CNS site where arachnoid cells are present

45
Q

meningioma arises in what 3 settings

A
  • Most Sporadic
  • Partial deletion or mutation of the NF2 locus (22q12)
  • Iatrogenic
  • Generally, involves a latent period of a decade or more and is directly related to radiation dosage
  • With higher radiation doses, such as are used for head and neck cancers, the interval may be as short as 5 year
  • Tumor predisposition syndromes
  • Neurofibromatosis 2 (NF2)
  • Multiple, potentially innumerable
  • Early onset, childhood
  • Schwannomatosis
  • 5% of patients
  • SMARCB1 germline mutation
46
Q

Most Common Primary Brain Tumors

A

Astrocytomas

47
Q

how are astrocytomas divided

A

on how diffusely they infiltrate the brain parenchyma

48
Q

diffuse vse non-infliltrating astrocytomas

A
  • Diffuse Astrocytomas
  • Low-grade fibrillary astrocytoma
  • Anaplastic astrocytoma

•Glioblastoma (Most malignant astrocytic tumor)

•Non-infiltrating/Diffuse Astrocytomas

•Pilocytic astrocytoma

  • Pleomorphic xanthoastrocytoma
  • Subependymal giant cell astrocytomas
49
Q

Most malignant astrocytic tumor

A

Glioblastoma

50
Q

Diffuse Astrocytomas – Clinicopathologic Features

A
  • Ability of individual tumor cells to infiltrate widely through brain and spinal cord parenchyma
  • This property reaches its extreme in gliomatosis cerebri (WHO grade III)
51
Q

Glioblastoma – Clinicopathologic Features

A
  • Terminology
  • Highly malignant (grade IV) Astrocytic neoplasm
  • Synonyms
  • Glioblastoma (spongioblastoma) Multiforme (GBM)
  • High-grade (malignant) astrocytoma (WHO grade IV)
  • Etiology/Pathogenesis
  • Primary GBM (90%): No evidence of precursor lesion
  • Short history; older patients; EGFR amplification
  • Secondary GBM: From lower grade astrocytoma
  • In 4-5 years; women, children; TP53 mutation
52
Q

primary vs secondary GBM

A

Primary GBM (90%): No evidence of precursor lesion

  • Short history; older patients; EGFR amplification
  • Secondary GBM: From lower grade astrocytoma
  • In 4-5 years; women, children; TP53 mutation
53
Q

age group that glioblastomas affect

A

•Older patients; represents most GBMs (90%)

54
Q

characteristic signs of glioblastomas

A

Central necrosis (white open arrow) surrounded by hemorrhage, edema, and infiltrating tumor

55
Q

what is a common gliobastoma mtation

A
  • Pediatric High-Grade Astrocytomas
  • Common TP53 mutation, rare EGFR amplification
  • Especially brainstem lesions: Diffuse Pontine Astrocytoma
56
Q

Diffuse Pontine Astrocytoma

A

Diffuse astrocytomas of childhood, diffuse pontine astrocytomas infiltrate and expand the brainstem pons, often to the point of encircling the basilar artery.

57
Q
A

Clinical neuro (3 decks)

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