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Headache, tumors, neurocutaneous Flashcards

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1
Q

Pain information from the trigeminal nerve/nuclei is mediated by neuropeptides like _ , _ , _

A

Pain information from the trigeminal nerve/nuclei is mediated by neuropeptides like calcitonin gene-related peptide , neurokinin , substance P

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2
Q

CGRP and substance P induce mast cells to release _

A

CGRP and substance P induce mast cells to release histamine
* Histamine stimulates more CGRP and substance P release

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3
Q

Name (3) types of primary headaches

A
  1. Tension
  2. Migraine
  3. Cluster (trigeminal autonomic cephalgias)
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4
Q

Name examples of secondary headaches

A

Secondary headaches include:
* Trauma
* Vascular disorders
* Substance use
* Infections

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5
Q

Excruciating unilateral pain in the distribution of V2 and V3 is called _

A

Excruciating unilateral pain in the distribution of V2 and V3 is called trigeminal neuralgia

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6
Q

Trigeminal neuralgia can be exacerbated by _

A

Trigeminal neuralgia can be exacerbated by sensory stimulation (shaving, eating, tooth brushing)

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7
Q

The presumed cause of trigeminal neuralgia is _

A

The presumed cause of trigeminal neuralgia is blood vessel pressing on the trigeminal nerve as it exits the brainstem
* Rarely caused by tumor compression or M.S. demyelination

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8
Q

The most appropriate imaging to assess trigeminal neuralgia is _

A

The most appropriate imaging to assess trigeminal neuralgia is MRI with contrast

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9
Q

First line treatment for trigeminal neuralgia is _

A

First line treatment for trigeminal neuralgia is carbamazepine

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10
Q

Side effects of carbamazepine include:

A

Side effects of carbamazepine include:
* Agranulocytosis
* Hyponatremia
* Liver damage
* Steven Johnson syndrome

In refractory cases can do microvascular decompression to separate the blood vessel from nerve

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11
Q

Familial hemiplegic migraine is an autosomal dominant condition with variable penetrance which involves _

A

Familial hemiplegic migraine is an autosomal dominant condition with variable penetrance which involves ion channelopathy
* Migraines have a strong genetic predisposition
* 3X more likely in first degree relatives

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12
Q

_ branch of the trigeminal nerve is associated with migraines

A

Opthalmic branch (V1) of the trigeminal nerve is associated with migraines

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13
Q

The migraine generator is thought to be in the [brain region]

A

The migraine generator is thought to be in the pons

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14
Q

_ is a wave of depolarization that can trigger the “migraine generator” in the pons

A

Cortical spreading depression (CSD) is a wave of depolarization that can trigger the “migraine generator” in the pons
* Causes the migraine aura

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15
Q

Diagnostic criteria of migraines includes:

A

Diagnostic criteria of migraines includes: POUND
* Pulsatile
* Lasts hours
* Unilateral
* Nausea
* Disabling

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16
Q

Triptans are (abortive/preventative) medications for migraines

A

Triptans are abortive medications for migraines
* Sumatriptan, naratriptan, rizatriptan
* Given PO, SQ, intranasally

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17
Q

Triptan mechanism of action: they target _

A

Triptan mechanism of action: they target 5-HT1B and 5-HT1D receptors
* Serotonin agonist
* CGRP release inhibitor and vasoconstrictor

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18
Q

Triptans have _ side effect and are contraindicated in patients with _

A

Triptans temporarily raise blood pressure and are contraindicated in patients with MI or stroke history

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19
Q

Never mix a triptan with _ or _

A

Never mix a triptan with MAO inhibitor or dihydroergotamine (DHE)

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20
Q

(Vasoconstricting/Vasodilating) drugs are used to treat migraines

A

Vasoconstricting drugs are used to treat migraines

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21
Q

Triptan toxicities include “triptan sensations” ie _ or _

A

Triptan toxicities include “triptan sensations” ie paresthesia or chest tightness

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21
Q

Dihydroergotamine (DHE) is a migraine medication that acts as a [mechanism]

A

Dihydroergotamine (DHE) is a migraine medication that acts as an alpha-adrenergic blocker & CGRP release inhibitor
* Directly stimulates vascular smooth muscle and agonizes serotonin
* Usually given intravenously

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22
Q

Side effects of DHE:

A

Side effects of DHE:
* Temporary rise in BP
* Myocardial ischemia (MI)
* Stroke
* Category X for pregnancy

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23
Q

Beta blockers like _ and calcium blockers like _ can be used for migraine prophylaxis

A

Beta blockers like metoprolol, propranolol and calcium blockers like verapamil, nifedipine can be used for migraine prophylaxis

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24
_ and _ are two anti-epileptic drugs that can be use for migraine prophylaxis
**Valproic acid** and **topiramate** are two anti-epileptic drugs that can be use for migraine prophylaxis * *Recall that valproic acid can cause neural tube defects*
25
_ is a CGRP receptor antibody that can be used for migraine prophylaxis
**Erenumab** is a CGRP receptor antibody that can be used for migraine prophylaxis * These block the vasodilation, inflammation, and transmission of the seizure
26
Beta-blockers and SNRIs are helpful for migraine prophylaxis by _
Beta-blockers and SNRIs are helpful for migraine prophylaxis by **blocking migraine initiation at the migraine generator**
27
Diffuse pain that is "like a tight head band" describes _ type headache
Diffuse pain that is "like a tight head band" describes **tension headache** * Trigemino-vascular system plays an important role
28
Unilateral _ and _ is classic for a cluster headache
Unilateral **ptosis** and **miosis (anisocoria)** is classic for a cluster headache * Partial horner's syndrome caused by failure of the sympathetics * Occur in clusters, at the same time every day
29
Treatment for cluster headache includes triptans, prednisone, avoiding alcohol, and _
Treatment for cluster headache includes triptans, prednisone, avoiding alcohol, and **oxygen (100% FiO2 by non-rebreather mask)**
30
Giant cell (temporal) arteritis is caused by _
Giant cell (temporal) arteritis is caused by **granulomatous inflammation of the external carotid artery branches** * Sometimes internal carotid branches are affected like opthalmic artery * Need temporal artery biopsy to confirm- intimal thickening, lamina fragmentation, multinucleated giant cells
31
Giant cell arteritis will present with [signs] and needs to be treated right away with [medication]
Giant cell arteritis will present with **unilateral headache, jaw claudication, visual disturbance** and needs to be treated right away with **prednisone** * *ESR will also be elevated*
32
Name three adult-type, diffuse gliomas
Name three adult-type, diffuse gliomas 1. **Astrocytoma** 2. **Oligodendroglioma** 3. **Glioblastoma**
33
_ is a circumscribed astrocytic glioma
**Pilocytic astrocytic glioma** is a circumscribed astrocytic glioma
34
Diagnosis?
Oligodendroglioma
35
Oligodendroglioma most commonly occurs in [patient demographics]
Oligodendroglioma most commonly occurs in **adults, 30s-40s**
36
Oligodendroglioma is most common in [brain region]
Oligodendroglioma is most common in **cerebral hemispheres, especially frontal**
37
The classic histology feature of oligodendroglioma is _ and _
The classic histology feature of oligodendroglioma is **fried egg appearance** and **chicken wire capillaries**
38
The molecular hallmark of oligodendroglioma is _
The molecular hallmark of oligodendroglioma is **1p/19q codeletion**
39
Astrocytomas are most common in [patient demographic]
Astrocytomas are most common in **adults, 30s-40s**
40
Astrocytomas are most common in [brain region]
Astrocytomas are most common in **cerebral hemispheres**
41
Diagnosis?
**Astrocytoma**: lack a fried egg appearance (no perinuclear appearance); look similar to oligodendrocytes but astrocytes have more variable nuclei shape
42
Grade 1 astrocytoma means the tumor is _
Grade 1 astrocytoma means the tumor is **well circumscribed, potentially cured by resection** * Grade 1 and 2 are low grade * Grade 2-4 are infiltrating and need treatment beyond resection
43
Grade 2 astrocytoma features [histologic feature]
Grade 2 astrocytoma features **atypia** * Grade 2 = diffuse astrocytoma
44
Grade 3 astrocytoma features [histologic feature]
Grade 3 astrocytoma features **mitoses** * Grade 3 = anaplastic
45
Grade 4 astrocytoma features [histologic feature]
Grade 4 astrocytoma features **endothelial proliferation +/- necrosis** * Grade 4 = glioblastoma
46
_ tumors are classically in older adults > 55yo and are found in the cerebral hemispheres, often crossing midline
**Glioblastoma** tumors are classically in older adults > 55yo and are found in the cerebral hemispheres, often crossing midline * "Butterfly glioma" crosses midline
47
The classic histologic feature of glioblastoma is _
The classic histologic feature of glioblastoma is **pseudopalisading necrosis** * Histology can also show microvascular/endothelial proliferation
48
**Hemangioblastoma**
49
**Metastatic melanoma**
50
Angiomatous meningioma
51
What phenomenon is shown here?
**Microvascular proliferation** (ie endothelial cell proliferation)
52
Diagnosis?
Oligodendroglioma * Note that oligodendrogliomas and ependymomas max out at grade 3
53
Glioblastoma with _ mutation actually has a better prognosis
Glioblastoma with **IDH mutation** actually has a better prognosis
54
Diagnosis?
Pilocytic astrocytoma *Posterior fossa mass in child could be pilocytic astrocytoma, medulloblastoma, ependymoma, hemangioblastoma*
55
"Cyst with a mural nodule" is classic for [brain tumor]
"Cyst with a mural nodule" is classic for **pilocytic astrocytoma**
56
Diagnosis?
Pilocytic astrocytoma
57
The classic histologic feature of pilocytic astrocytoma is _
The classic histologic feature of pilocytic astrocytoma is **rosenthal fibers** * *They are often biphasic, meaning they have areas that are compact and areas that are loose*
58
The most common primary brain tumor in children is _
The most common primary brain tumor in children is **pilocytic astrocytoma** * Occur in the cerebellum of kids but cerebrum in adults
59
Kids with NF1 often get optic pathway gliomas, specifically [type]
Kids with NF1 often get optic pathway gliomas, specifically **pilocytic astrocytoma**
60
_ are childhood tumors that classically sit at the floor of the 4th ventricle
**Ependymoma** are childhood tumors that classically sit at the floor of the 4th ventricle * *Because of this they can cause hydrocephalus*
61
Patients with NF2 can get glial tumors in the spinal cord, specifically [type]
Patients with NF2 can get glial tumors in the spinal cord, specifically **ependymoma**
62
The histological hallmark associated with ependymomas is _
The histological hallmark associated with ependymomas is **perivascular pseudorosettes** * Also see hyalinized vessels and sometimes true rosettes
63
The most important prognostic predictor for a child with ependymoma is _
The most important prognostic predictor for a child with ependymoma is **extent of resection**
64
The most common malignant peds brain tumor is _
The most common malignant peds brain tumor is **medulloblastoma** * Occur in the cerebellum
65
"drop metastasis to the spinal cord" should make you think [tumor]
"drop metastasis to the spinal cord" should make you think **medulloblastoma**
66
Medulloblastomas feature [histologic feature]
Medulloblastomas feature **homer-wright rosettes** * Have a central neuropil of axons, glial products, etc
67
_ molecular associations have the best medulloblastoma prognosis while _ have the worst
**WNT** molecular associations have the best medulloblastoma prognosis while **SHH with TP53 mutation or MYCN amplification** have the worst
68
Diagnosis?
**Ganglioglioma**: glial and neural components (mixed) * Features abnormal neurons and eosinophilic granular bodies * These occur in kids and young adults and have excellent prognosis
69
Name the (5) most common sources of brain metastases in adults
Name the (5) most common sources of brain metastases in adults 1. **Lung** 2. **Breast** 3. **Kidney** 4. Melanoma 5. Colon
70
Immunohistochemical marker for glial neoplasms is _
Immunohistochemical marker for glial neoplasms is **glial fibrillary acid protein (GFAP)**
71
Immunohistochemical marker for carcinomas is _
Immunohistochemical marker for carcinomas is **cytokeratin (CK)**
72
Immunohistochemical marker for hematologic neoplasms (ie leukemia, lymphoma) is _ ; or for B-cell neoplasms _
Immunohistochemical marker for hematologic neoplasms (ie leukemia, lymphoma) is **CD45** ; or for B-cell neoplasms **CD20**
73
This shows metastatic carcinoma which has metastasized to _
This shows metastatic carcinoma which has metastasized to **cerebellum**
74
This is a glioma (GFAP positive) that features _ (green circle)
This is a glioma (GFAP positive) that features **endothelial/ microvascular proliferation** (green circle)
75
The most common CNS neoplasm in adults is _
The most common CNS neoplasm in adults is **metastasis** * Lung, breast, melanoma, renal cell, colorectal * Most occur as multiple lesions
76
The most common primary CNS lymphoma is _
The most common primary CNS lymphoma is **diffuse large B-cell lymphoma** * Positive for CD20 * If EBV+ think of immunodeficiency (HIV) * Look for fever, weight loss, night sweats, mass effect signs
77
The most common germ cell tumor of the CNS is _
The most common germ cell tumor of the CNS is **germinoma** * Same histology as testicular seminoma and ovarian dysgerminoma * Most commonly occur in the midline and in the pineal region
78
Compression of the dorsal midbrain/ pineal region (ie germinoma) can cause _ syndrome; a triad of upward gaze palsy, convergence-retraction nystagmus, light-near dissociation
Compression of the dorsal midbrain/ pineal region (ie germinoma) can cause **Parinaud syndrome**; a triad of upward gaze palsy, convergence-retraction nystagmus, light-near dissociation
79
_ is the mcc supratentorial brain tumor in kids (suprasellar region); it is usually cystic with *motor oil like fluid*
**Craniopharyngioma** is the mcc supratentorial brain tumor in kids (suprasellar region); it is usually cystic with *motor oil like fluid* * Squamous neoplasm derived from rathke pouch remnants; wet keratin, calcifications
80
Neurofibromatosis type 1 is [inheritance pattern]
Neurofibromatosis type 1 is **autosomal dominant** * It has 100% penetrance, but variable expressivity * 50% of people with NF1 are de-novo mutations
81
To make a clinical diagnosis for NF1, at least 2 features must be present:
To make a clinical diagnosis for NF1, at least 2 features must be present: * Multiple cafe-au-lait macules * Skinfold freckling * Iris hamartomas (lisch nodules) * Optic pathway glioma * Multiple neurofibromas * Osseous lesions (severe scoliosis) * An affected first degree relative
82
What is the typical presentation of NF1?
For the majority of people with NF1... * Skin fold freckling and lisch nodules present by puberty * Cutaneous neurofibromas common * Children have learning disabilities and ADHD * Epilepsy more common, sometimes vision loss from optic nerve glioma
83
The pathogenesis of NF1 involves a mutation in [gene] which encodes [protein] which results in _
The pathogenesis of NF1 involves a mutation in ***NF1*** which encodes **neurofibromin** which results in **Ras hyperactivation --> proto-oncogene involved in cell growth in differentiation** * Neurofibromin is a tumor suppressor gene/ negative regulator of Ras
84
Identify the skin pathology
**Cutaneous neurofibroma**: polypoid, well circumscribed skin lesions
85
Identify the skin pathology
**Plexiform neurofibroma**: likely congenital
86
_ neurofibromas are more likely to transform into malignant peripheral nerve sheath tumors
**Plexiform neurofibromas** are more likely to transform into malignant peripheral nerve sheath tumors
87
Benign or malignant neurofibroma?
Benign
88
Benign or malignant neurofibroma?
Malignant- malignant peripheral nerve sheath tumor
89
The most common nerve sheath tumor is _
The most common nerve sheath tumor is **schwannoma (acoustic neuroma)** * Often found incidentally in the 4th-5th decade of life
90
Bilateral schwannomas are a feature of [condition]
Bilateral schwannomas are a feature of **neurofibromatosis type 2**
91
Schwannomas are well-circumscribed masses attached to the nerve found in the _
Schwannomas are well-circumscribed masses attached to the nerve found in the **soft tissue, cranial nerves, peripheral nerves, internal organs**
92
Schwannomas will exhibit biphasic nature on histology; dense areas with nuclear palisading are called _ while more hypocellular areas with perinuclear clearing are called _
Schwannomas will exhibit biphasic nature on histology; dense areas with nuclear palisading are called **Antoni A** while more hypocellular areas with perinuclear clearing are called **Antoni B**
93
In addition to vestibular schwannoma, individuals with NF2 can have multiple [tumors]
In addition to vestibular schwannoma, individuals with NF2 can have multiple **meningiomas**
94
NF2 is [inheritance]
NF2 is **autosomal dominant** * Half of cases are sporadic/ newly acquired germline mutations
95
NF2 is associated with the protein _ , which is coded by *NF2*
NF2 is associated with the protein **merlin** , which is coded by *NF2*
96
NF2 is on chromosome _
NF2 is on chromosome **22q12.2**
97
The loss of merlin in NF2 causes _
The loss of merlin in NF2 causes **loss of tumor suppression; merlin normally acts via E-cadherin-mediated contact inhibition of proliferation** * No merlin = no contact inhibition = schwann cells proliferate
97
Von Hippel Lindau (VHL) disease is an autosomal dominant condition that involves _
Von Hippel Lindau (VHL) disease is an autosomal dominant condition that involves **tumors in multiple organ systems**
98
Common tumors in VHL include:
Common tumors in VHL include: * **Hemangioblastomas** * **Renal cysts and renal cell carcinoma** * **Adrenal pheochromocytoma** (VHL type 2) * **Pancreatic neuroendocrine tumors**
99
The VHL gene is a [type] found on chromosome _
The VHL gene is a **tumor suppressor gene** found on chromosome **3p25.3**
100
VHL protein is important for the degradation of _ ; without it, we end up with hyper-vascular tumors
VHL protein is important for the *degradation* of **hypoxia-inducing factor (HIL)** ; without it, we end up with hyper-vascular tumors
101
Tuberous sclerosis is an autosomal dominant disorder that arises from mutations at two loci; TSC1 on [chromosome] and TSC2 on [chromosome]
Tuberous sclerosis is an autosomal dominant disorder that arises from mutations at two loci; **TSC1** on **9q** and **TSC2** on **16p** * The majority of cases are caused by TSC2 (more severe phenotype) * TSC1 = *harmartin* * TSC2 = *tuberin*
102
Common clinical manifestations of tuberous sclerosis:
Common clinical manifestations of tuberous sclerosis: * Subependymal giant cell astrocytoma (SEGA) * Epilepsy, intellectual disorder, autism * Neuropsychiatric disorders * Cardiac rhabdomyoma, kidney issues, lung issues, angiofibroma (skin)
103
_ are cerebral cortical tubers ; aka distorted "normal" tissue extending from grey matter into white matter
**Glioneuronal hamartomas** are cerebral cortical tubers ; aka distorted "normal" tissue extending from grey matter into white matter
104
Diagnosis?
Subependymal giant cell astrocytoma (SEGA)
105
Port-wine birthmark, leptomeningeal vascular malformations, glaucoma, and neurologic deficits (stroke, seizures, atrophy) are characteristic of _
Port-wine birthmark, leptomeningeal vascular malformations, glaucoma, and neurologic deficits (stroke, seizures, atrophy) are characteristic of **Sturge-Weber syndrome**
106
Sturge-weber is **NOT** inherited; and involves somatic mosaic variants in [gene] or [gene]
Sturge-weber is **NOT** inherited; and involves somatic mosaic variants in **GNAQ** or **GNA11**
107
Sturge weber involves a _ mutation in GNAQ which alters the normal signaling between G protein coupled receptors and downstream effector proteins
Sturge weber involves a **point mutation** in GNAQ which alters the normal signaling between G protein coupled receptors and downstream effector proteins

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