Path 1 Block 3 Pt 2

ptheodore's version from 2015-08-02 02:07


Question Answer
Hyponatremia (below below 115 mmol/L) in CNSCerebral edema
Occlusion of the cerebral aqueduct of SylviusHydrocephalus
After infancy, hydrocephalus produces enlargement of theLateral ventricles
Stricture/stenosis of the Aqueduct of Sylvius. This causes paralysis of upward gaze (Parinaud syndrome). Tumor in the 4th ventricle (ependymoma, medulloblastoma)Non-communicating (obstructive) Hydrocephalus
Increased CSF production (choroid plexus papilloma). Problems with reabsorption of CSF (post-meningitic scarring). Hydrocephalus ex vacuo: consequent to cerebral atrophy (Alzheimer disease)Communicating (non-obstructive) Hydrocephalus
Subfalcine (cingulate) herniation may lead to compression of theAnterior cerebral artery
Medial aspect of the temporal lobe is compressed. Third cranial nerve gets compressed (pupillary dilation and eye is deviated down and out)Transtentorial (uncal) herniation
Duret hemorrhagesTranstentorial (uncal) herniation
Posterior fossa masses causesCerebellar Tonsillar herniation
Failure of a portion of the neural tube (from notocord) to closeNeural tube defects
Failure of anterior end of the neural tube to close, leading to polyhydramniosAnencephaly
Folic acid deficiencyAnencephaly (Neural tube defects)
Maternal serum alpha-fetoprotein (MSAFP)Neural tube defects
Defect in closure of the posterior vertebral archSpina bifida
Spina bifida with dimple or a patch of hairSpina bifida occulta
Meningeal outpouching (lumbo-sacral). Only meningeal protrusion is seen through the defectMeningocele (Spina bifida)
Meninges and spinal cord herniate through the defectMeningomyelocele:
Enlarging head circumference. Bulging fontanelles, and gaping cranial sutures. Accumulation of CSF in the ventriclesCerebral Aqueduct stenosis
Partial or complete absence of cerebellar vermis. This results in a hugely dilated 4th ventricle, with absent cerebellumDandy-Walker malformation
Downward displacement of cerebellar vermis, and tonsils through foramen Magnum. Associated with hydrocephalus, meningomyelocele and syringomyeliaArnold-Chiari malformation (Type 2)
Cystic degeneration of the central parts of the spinal cord, cervical portion (C8–T1)Syringomyelia
Loss of pain and temperature (bilateral). Fine touch, and position sense remain unaffected. Painless weakness and wasting of the hands and arms (brachial amyotrophy).Syringomyelia
Horner syndrome (facial hemi-anhydrosis, ptosis, miosis). Cystic degeneration of the central parts of the spinal cordSyringomyelia
Bourneville's diseaseTuberous sclerosis complex
Mutations in either the TSC1 gene (hamartin) or, TSC2 gene (tuberin protein)Tuberous sclerosis complex
Complex that blocks the kinase mTORTuberous sclerosis complex
Angiofibromas on face, hypopigmented lesions referred to as “shagreen patches”, angiomyolipomas in kidneys (benign tumor of kidney), rhabdomyomas in heartTuberous sclerosis complex
Virus that causes flaccid muscle paralysis, muscle atrophy, fasciculations, reduced muscle power, abnormal reflexesPoliomyelitis
Replicates in the motor neurons of the spinal cord. Viral spread to nervous system may be thru’ blood or retrograde transport. Damage to anterior MOTOR horn cells produces' a Lower Motor Neuron (LMNPoliomyelitis
Floppy babyWerdnig-Hoffman disease
SMN1 geneWerdnig-Hoffman disease
This leads to degeneration of the anterior Motor horn cells. Type I (infantile): muscle weakness by 6 months of ageWerdnig-Hoffman disease
Fracture of temporo-parietal bone leading to tearing of middle meningeal arteryEpidural hemorrhage
Lucid interval of several hours may be seen, before the onset of neurologic deterioration. III (third) cranial nerve palsyEpidural hemorrhage
Venous bleeding between the dura and the arachnoid membranes. Crescent shaped bleedSubdural hematoma


Question Answer
Abrupt onset of focal or global neurological symptoms due to ischemia or hemorrhage. Last less than 24 hours.Transient Ischemic Attack
Abrupt onset of focal or global neurological symptoms due to ischemia or hemorrhage, last 24 hours or moreStroke
Reduction of cerebral `perfusion/oxygenation~ caused by cardiac arrest, hypovolemic shock (Road Traffic Accidents), hypoglycemia, carbon monoxide poisoning (chronic)Global cerebral ischemia
Border zone infarcts (watershed areas): border zone betweenAnterior and middle cerebral artery (Global cerebral ischemia)
Red Neurons, Liquefactive Necrosis Global & Foal cerebral ischemia
Reduction or complete cessation of blood flow to a localized area of the brainFocal cerebral ischemia
Caused by TIA or Stroke, mainly from mural thrombi from the heartFocal cerebral ischemia
Thrombotic occlusion due to atherosclerosis and plaque rupture leads toPale Infarct (Thrombotic occlusion (Focal cerebral ischemia))
Infarct that affects the Lenticulostriate branches (internal capsule), hyaline arteriolosclerosisLacunar infarct (Focal cerebral ischemia)
Red neurons, neutrophils at the infarct site, microglial reactionFocal cerebral ischemia
Hypertension, cerebral amyloid angiopathy (Alzheimer disease) can lead toIntracerebral Hemorrhage
Pressure on the middle cerebral artery (lenticulostriate branches), associated with chronic hypertension leading to hemorrhageCharcot-Bouchard microaneurysms:
Charcot-Bouchard microaneurysms & HypertensionIntracerebral hemorrhage
Accelerated atherosclerosis in larger arteries, and hyaline arteriolosclerosis in smaller arteriesHypertension (Intracerebral hemorrhage)
rupture of sacular (berry) aneurysm. bleed occur into the subarachnoid spaceSubarachnoid hemorrhage (SAH)
Structural anomaly noted in berry aneurysm; there is absence of smooth muscle and intimal elastic lamina. This can lead toSubarachnoid hemorrhage (SAH)
Autosomal polycystic kidney disease (ADPKD), Ehlers-Danlos synd (type IV), Marfan syndrome, neurofibromatosis (NF-1) with phaeochromocytoma, smoking, hypertension; all these can lead to what kind of hemorrhageSubarachnoid hemorrhage (SAH)
"Worst headache of my life”. Occurs mostly in the Anterior Communicating arterySubarachnoid hemorrhage
Sudden loss of consciousness may be preceded by a brief moment of excruciating headache. Headache is usually generalized, often with neck stiffness, and vomiting is commonSubarachnoid hemorrhage
lysis of the red blood cells and subsequent conversion of hemoglobin to bilirubin stains the spinal fluid yellow (xanthochromic spinal fluid peaks)Subarachnoid hemorrhage


Question Answer
Rapidly progressive, predominant motor signs such as weakness. Normal at birth, develop irritability, spasticity around 3 to 6 months of age. Usually die in two or three years.Krabbe disease
Galactocerebroside β-galactosidase Krabbe disease
Accumulation of galactosylsphingosine, which is cytotoxic. Brain shows loss of myelin and oligodendrocytes presence of ‘globoid ‘ cells in brainKrabbe disease
This enzyme is required for the catabolism of galactocerebroside to ceramide and galactosegalactocerebroside β-galactosidase (Krabbe disease)
Macrophages contain membrane bound vacuoles which shows crystalloid structures these show 'metachromasia’ when stained with Toluidine blueMetachromatic Leukodystrophy
Arylsulfatase A deficiencyMetachromatic Leukodystrophy
Accumulation of sulfatides (cerebroside sulfate). Sulfatides causes white matter injuryMetachromatic Leukodystrophy
Mutation in a member of the ATP-binding cassette transporter family of proteins: ABCD1Adrenoleukodystrophy
Inability to catabolize very long chain fatty acids, leading to these to be elevated in serumAdrenoleukodystrophy
leading to progressive loss of myelin in CNS and peripheral nervesAdrenoleukodystrophy
Adrenal insufficiency associated with adrenal atrophy. Childhood type: muscle spasms, gait abnormality strabismusAdrenoleukodystrophy
Inflammation, demyelination, relapsing-remitting or progressive due to autoimmune destructionMultiple sclerosis
Produces IFN gamma that activates macrophagesTH1 T-cells (MS)
Promote recruitment of leukocytes resulting in demyelinationTH17 T-cells (MS)
Ongoing myelin breakdown, macrophages containing lipid rich PAS positive debris. preservation of the axons. depletion of oligodendrocytes (produces the myelin)Acute plaque (MS)
Little or no myelin found. reduction in oligodendrocytes. astrocyte proliferation, gliosis. axons show depletion of myelinInactive plaque (MS)
Raised IgG in CSF. Raised oligoclonal bands, due to destruction of oligodendrocytesMultiple sclerosis
Eye Findings (important): optic neuritis, visual blurring, internuclear opthalmoplegia (characterized by medial longitudinal fasciculus)-one and a half syndrome, bladder dysfunctionMultiple sclerosis
Cognitive decline, spasticity of limbs, and seizuresSubacute Sclerosing Panencephalitis
Measles virus. Myelin degeneration and gliosisSubacute Sclerosing Panencephalitis
JC polyoma virus infects oligodendrocytes causing demyelination in immunosuppressed patients. White matter injuryProgressive Multifocal Leukoencephalopathy
Occurs after rapid correction of hyponatremiaCentral Pontine Myelinolysis
Loss of myelin in basis pontis and portion of the pontine tegmentumCentral Pontine Myelinolysis
Rapidly evolving quadriplegia; “locked in” syndrome (only eye movement is preserved). Seen in AlcoholicsCentral Pontine Myelinolysis
Epsilon 4 allele & presenilin 1 (familial), Cerebral amyloid angiopathy (CAA)Alzheimer’s disease
Bad secretase acts on APP, leading to improper breakdown (cleavage) with formation of insoluble productβ-secretase (Alzheimer’s disease)
Chromosome 21 houses the Aβ, associated withDown syndrome & Alzheimer’s
Amyloid core (stain positive for Congo Red). Aβ Amyloid is seen as extracellular material.Alzheimer’s
Neurofibrillary tangleshyperphosphorylated tau protein (microtubule)
Hirano bodies & Loss of cholinergic neurons:- nucleus basilis of MeynertAlzheimer’s
Memory impairment, Cognitive problems, language problem (apraxia), loss of judgment, reason, aggression, loss of inhibition, altered sleep-wake cycle, bedriddenAlzheimer’s disease
Rest tremor, rigidity, bradykinesia, and gait impairment (masked facies)Parkinson disease
Degeneration of dopaminergic neurons in the substantia nigra pars compactaParkinson disease
Lewy bodies are composed ofα-synuclein (Parkinson disease)
CAG repeats. Loss of GABAnergic neuronsHuntington disease
therefore with each following generation the disease would manifest at an earlier age than the precedingAnticipation
Atrophy of caudate nucleus. Manifests by 4th decade of life, involuntary jerky movements, chorea, aggression, depression, suicidal, dementiaHuntington disease
Loss of upper and lower motor neurons, leading to muscle atrophy (amyotrophy). the loss of cortical motor neurons results in thinning of the corticospinal tracts that travel via the internal capsuleAmyotrophic lateral sclerosis
Mutation in gene encoding for copper-zinc superoxide dismutase (SOD1). Reduced capacity to detoxify free radicals, leads to neuronal death. Triggers a misfolded protein responseAmyotrophic lateral sclerosis
Asymmetric weakness of hands, spasticity of arms and legs, involuntary contractions: fasciculationAmyotrophic lateral sclerosis
Unstable trinucleotide repeats (GAA) in frataxin. Extremely low levels of frataxin mRNAFriedreich ataxia
Iron accumulation leads to free radical injury (apoptotic cell death)Friedreich ataxia
Nystagmus, dysarthria, pes cavus, hammer toes, hypertrophic cardiomyopathy, kyphoscoliosis in childhoodFriedreich ataxia
Spinal cord atrophyFriedreich ataxia


Question Answer
High grade 4 brain tumor, seen in patients 40-60 years oldGlioblastoma Multiforme
Atypia, Mitosis, Endothelial proliferation, NecrosisGlioblastoma Multiforme
GFAP+ stainGlioblastoma
Headache, seizures, and focal neurologic deficit, Tumor that crosses the midlineGlioblastoma
CNS tumors with alterations in BRAF signaling pathwayPilocytic astrocytoma
benign childhood tumor seen in the cerebellumPilocytic astrocytoma
Bipolar cells, with hair-like processes, Rosenthal fibers, eosinophilic granular bodies GFAP+Pilocytic astrocytoma
Mostly adults (40 to 60 yrs). Low-grade glioma resembling oligodendrocytes. Gelatinous with cystic spaces. CalcificationOligodendroglioma
‘chicken-wire’ capillary pattern, “fried egg” cells seen on microscopyOligodendroglioma
Tumor associated with Neurofibromatosis 2 (NF2)Ependymoma
Tumor in the 4th ventricleEpendymoma
Typically originates from wall of cerebral ventricles (i.e., the cells lining the ventricles of the brain and the central canal of the spinal cord)Ependymoma
Tumor seen in Adults located in the spinal cord (myxopapillary)Ependymoma
Tumor in the midline of cerebellum. May occlude CSF flow. Seeding of the CSF is common. Homer-Wright rosettesMedulloblastoma
High grade 4 brain tumor, seen in patients 3 - 10 years oldMedulloblastoma
Benign tumors (majority) arising from meningothelial cell of arachnoidMeningiomas
Benign tumor associated with Neurofibromatosis 2 (NF2). Seen in FemalesMeningiomas
Psammoma bodies may be seen in which brain tumorsMeningiomas
Brain tumor assoicated with diffuse large B cell lymphoma (DLBCL), B-cell markers are positive (CD20, CD19), EBV markers positive, in setting of immunosuppressionPrimary CNS Lymphoma (PCNSL)
Epstein-Barr virus (EBV) frequently plays an important role in the pathogenesis of HIV-relatedPrimary CNS Lymphoma (PCNSL)
Hypothalamic suprasellar/Sella turcica tumorCraniopharyngioma
Tumor derived from vestigial remnants of Rathke pouchCraniopharyngioma
Symptoms result from compression of adjacent structures, especially the optic chiasm. Bitemporal hemianopia. Diabetes insipidus. Risk of recurrence associated with larger tumorsCraniopharyngioma
Children are born with one defective (first hit: germ cells) and one normal copy of RB gene. Normal copy is lost thru’ somatic mutationRetinoblastoma (Familial)
Children are born with 2 normal copies of RB gene, these copies are lost thru’ somatic mutation occurring in one of the retinoblasts (both hits: somatic cells)Retinoblastoma (Sporadic )