Pathoma 9.1-9.2, 17, 18.5 Flashcards by B -

What is the diagnosis? Antibodies against presynaptic Ca channels of the NMJ; Paraneoplastic syndrome, most often of a small cell carcinoma of the lung; Imparied ACh release; Proximal muscle weakness that improves with use

Lambert-Eaton Syndrome Eyes are usually spared; Acetylcholinesterase inhibitors do not improve symptoms; Resolves with resection of cancer

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What is anencephaly?

Anencephaly is a neural tube defect that results in absence of the skull and brain - disruption of the cranial end of the neural tube; “Frog-like” appearance of fetus; Maternal polyhydramnios because fetus can’t swallow amniotic fluid

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Protrusion of the meninges is what form of spina bifida?

Meningocele

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Protrusion of the meninges AND spinal cord is what form of spina bifida?

Meningomyelocele

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What is the diagnosis? Hydrocephalus in a newborn; Enlarging head circumference due to dilation of the ventricles; Accumulation of CSF in the ventricular space

Cerebral Aqueduct Stenosis Congenital stenosis of the channel that drains CSF from the 3rd to the 4th ventricle

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What is the diagnosis? Massively dilated 4th ventricle with an absent cerebellum; Often accompanied by hydrocephalus

Dandy-Walker Malformation Congenital failure of the cerebellar vermis to develop

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What is the diagnosis? Congenital downward displacement of cerebellar vermis and tonsils through the foramen magnum; Obstruction of CSF flow commonly results in hydrocephalus; Often seen with meningomyelocele

Arnold-Chiari Malformation (Type II)

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Where is the most common place for Syringomyelia to occur?

C8 to T1 Syringomyelia is cystic degeneration of the spinal cord Sensory loss of pain and temperature, spares fine touch and position sense (cape-like distribution)

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Poliomyelitis due to poliovirus results in flaccid paralysis and muscle atrophy, fasciculations, impaired reflexes and a negative Babinski sign (lower motor neuron signs). Where is the damage in the spinal cord?

Degeneration of anterior motor horn

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What is the diagnosis? Inherited degeneration of the anterior motor horn; Autosomal recessive; Presents as “floppy baby;” Death occurs within a few years of birth

Werdnig-Hoffman Disease

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Lack of sensory impairment distinguishes ALS from what other diagnosis?

Syringomyelia

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What is the diagnosis? Degenerative disorder of the cerebellum and spinal cord; Subsequent ataxia; Loss of vibratory sense and proprioception, muscle weakness in the lower extremities, loss of deep tendon reflexes; Presents in early childhood; Complication is hypertrophic cardiomyopathy

Friedreich Ataxia Autosomal recessive; expansion of unstable trinucleotide repeat (GAA) in the frataxin gene

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Frataxin is essential for what?

Mitochondrial iron regulation; loss results in iron build-up with free radical damage; this is the gene impaired in Friedreich Ataxia

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Thrombotic stroke is due to:

rupture of an atherosclerotic plaque Atherosclerosis commonly develops at branchpoints, for example the bifurcation of IC and MCA in the circle of willis; results in pale infarct at the periphery of the cortex

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Embolic stroke is due to:

Thromboemboli Most common source of emboli is the left side of the heart (ie a-fib); usually involves MCA; results in hemorrhagic infarct at the periphery of the cortex

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Lacunar stroke is due to:

Hyaline arteriosclerosis Most commonly involves the lenticulostriate vessels, resulting in small, cystic areas of infarction; involvement of the internal capsule = pure motor stroke; involvement of the thalamus = pure sensory stroke

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What is the anatomical (as opposed to clinical) result of an ischemic stroke?

Liquefactive necrosis Eosinophilic change –> Necrosis –> fluid-filled cystic space surrounded by gliosis

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Intracerebral hemorrhage is bleeding into the brain parenchyma. It’s classically due to:

Rupture of Charcot-Bouchard microaneurysms of the lenticulostriate vessels; complication of HTN;

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The most common site for intracerebral hemorrhage is ehre?

Basal ganglia Presents as severe HA, nausea, vomiting and eventual coma

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What is the diagnosis? Sudden onset worst HA of a person’s life; Nuchal rigidity; Lumbar puncture shows xanthochromia (yellow hue from bilirubin);

Subarachnoid hemorrhage Can be due to rupture of a berry aneurysm (most common), AV malformations, anticoagulated state; Most frequently in the anterior circle of willis at branch points of ACA; Can be seen in Marfan syndrome and AD polycystic kidney disease

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Epidural hematoma is blood where?

BEWTEEN dura and skull; trauma; fracture of temporal bone –> rupture of middle meningeal artery; Herniation is a lethal complication

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A lens-shaped lesion on head CT suggests?

Epidural hematoma

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Subdural hematoma is blood where?

UNDER the dura, blood covering surface of brain; presents with progressive neurologic signs; trauma; tearing of bridging veins between dura and arachnoid; Herniation is a lethal complication

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A crescent-shaped lesion on head CT suggests?

Subdural hematoma

Rupture of the paramedian artery leads to what?

Duret (brainstem) hemorrhage A complication of uncal herniation

What is the diagnosis? Most common leukodystrophy; Deficiency in arylsulfatase; Autosomal recessive

Metachromatic Leukodystrophy, a lysosomal storage disease

What is the diagnosis? Galactocerebroside accumulates in macrophages

Krabbe disease Autosomal recessive deficiency of galactocerebrosidase

What is the diagnosis? Impaired addition of Co-A to long chain fatty acids; X-linked

Adrenoleukodystrophy Accumulation of fatty acids damages adrenal glands and white matter of the brain.

Multiple sclerosis is associated with what HLA?

HLA-DR2

Lumbar puncture in the diagnosis of MA would reveal?

Increased lymphocytes; Myelin basic protein; Increased immunoglobulins with oligoclonal IgG bands on high resolution electrophoresis

Subacute Sclerosing Panencephalitis is a progressive encephalitis leading to death, and is a complication of:

Measles virus

JC virus infection of oligodendrocytes is called:

PML - Progressive Multifocal Leukoencephalopathy can happen as the result of immunosuppression; rapidly progressive neurologic signs and death

What is the diagnosis? Focal demyelination of the pons; Can result in "locked-in" syndrome (bilateral paralysis); Can be due to rapid correction of hyponatremia;

Central Pontine Myelinolysis

What Apo allele is associated with DECREASED risk for Alzheimer's Disease?

E2 E4 - increased risk

What is the diagnosis? Degenerative disease of the frontal and temporal cortex; Spares the parietal and occipital lobes

Pick Disease

What is the diagnosis? Degeneration of GABAergic neurons in the caudate nucleus of the basal ganglia

Huntington Disease

What is a common cause of death in HD?

Suicide

What is the diagnosis? Increased CSF in dilated ventricles; Can cause dementia in adults - wet, wobbly, wacky

Normal Pressure Hydrocephalus

Familial Fatal Insomnia is what kind of disease?

Spongiform Encephalopathy Inherited form of prion disease

T/F: In children, primary tumors are usually infratentorial.

True In adults, primary tumors are usually supratentorial

What is the diagnosis? Malignant, high-grade astrocyte tumor; "Butterfly" lesion because tumor arises in the cerebrum and crosses corpus callosum; tumor cells are GFAP positive

Glioblastoma Multiforme

What is the diagnosis? Benign tumor of arachnoid cells; More common in women; May present as seizures; Histology shows a whorled pattern; Psammoma bodies may be present

Meningioma

What is the diagnosis? Benign tumor of Schwann cells; Involves cranial or spinal nerves most commonly CN VIII at the cerebellopontine angle (loss of hearing or tinnitus); Tumor cells are S-100 positive; Bilateral tumors are seen in Neurofibromatosis Type II

Schwannoma

What is the diagnosis? Malignant tumor of oligodendrocytes; Calcified tumor of white matter usually in frontal lobe; "Fried egg" appearance of cells on biopsy

Oligodendroglioma

What is the diagnosis? Benign tumor of astrocytes; Usually arises in the cerebellum; Imaging reveals a cystic lesion with a mural nodule; Biopsy shows Rosenthal fibers; Cells are GFAP positive

Pilocytic astrocytoma

What is the diagnosis? Malignant tumor derived from granular cells of the cerebellum; Usually seen in children; Small round blue cells on histology; Homer-Wright rosettes may be present; Poor prognosis

Medulloblastoma Metastasis to the cauda equina = "drop metastasis"

What is the Diagnosis? Malignant tumor of ependymal cells; Usually seen in children; Commonly arises in the 4th ventricle --\> can present with hydrocephalus; Perivascular Pseudorosettes on biopsy

Ependymoma

What is the diagnosis? Tumor that arises from epithelial remnants of Rathke's pouch; Presents as a supratentorial mass in a child or young adult; May compress optic chiasm --\> bitemporal hemianopsia; Calcifications seen on imaging (derived from "tooth-like" tissue); Benign but recurs after resection

Craniopharyngioma

What cells are seen in the inflammatory infiltrate of rhinitis?

Eosinophils

What is a complication of repeated bouts of rhinitis?

Nasal polyps

What is the diagnosis? Triad of asthma, aspirin-induced bronchospasms, nasal polyps

Aspirin-intolerant asthma

What is the diagnosis? Benign tumor of nasal mucosa composed of large blood vessels and fibrous tissue; Classically seen in adolescent males; Presents with profuse epistaxis

Angiofibroma

What is the diagnosis? Malignant tumor of nasopharyngeal epithelium; Association with EBV; Classicallt seen in African children and Chinese adults; Pleomorphic keratin + epithelial cells in a background of lymphcytes

Nasopharyngeal carcinoma

How does nasopharyngeal carcinoma often present?

Involvement of cervical lymph nodes

What is the most common cause of acute epiglottitis , especially in nonimmunized children?

H. influenzae type B

What is the diagnosis? Inflammation of the upper airway; Most common cause is parainfluenza virus; Barking cough and inspiratory stridor

Croup aka Laryngotracheobronchitis

What is the diagnosis? Nodule that arises on the true vocal cord; Often due to excessive use of vocal cords, usually bilateral

Singer's nodule aka Vocal Cord Nodule

What is the diagnosis? Benign papillary tumor of the vocal cord; Due to HPV 6 and 11; Presents with hoarseness

Laryngeal Papilloma

What is the diagnosis? Squamous cell carcinoma, usually arises from the epithelial lining of the vocal cord; Risk factors are alcohol and tobacco

Laryngeal Carcinoma