Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
229 Cards in this Set
- Front
- Back
|
What biochemical marker will be elevated in maternal serum or amniotic fluid in association with neural tube defects?
|
alpha-fetoprotein (AFP)
|
|
|
What nutritional deficiency is one of the major underlying etiologies associated with neural tube defects?
|
Maternal folic acid deficiency
|
|
|
What congenital disorder results from the failure of closure of the posterior vertebral arches?
|
Spina bifida
|
|
|
What congenital disorder is characterized by spina bifida with no clinically apparent abnormalities (vertebral arch defect most often limited to one or two vertebrae)?
|
Spina bifida occulta
|
|
|
What congenital disorder is characterized by spina bifida complicated by herniation of meninges through a defect?
|
Spina bifida cystica
|
|
|
What neural tube defect is characterized by herniation of meningeal membranes?
|
Meningocele
|
|
|
What neural tube defect is characterized by herniation of meningeal membranes and a portion of the spinal cord?
|
Meningomyelocele
|
|
|
What neural tube defect is characterized by marked diminution (sometimes absence) of fetal brain tissue; usually associated with the absence of overlying skull?
|
Anencephaly
|
|
|
What group of infections transmitted vertically presents with similar clinical manifestations?
|
TORCH complex
- TOxoplasma - Rubella - Cytomegalovirus - Herpes Simplex Virus (HSV) |
|
|
What organs tend to be affected by TORCH complex infections?
|
- Heart
- Skin - Eye (Chorioretinitis) - CNS Characteristics include microcephaly and focal cerebral calcification |
|
|
What is hydrocephalus?
|
Condition that characterized by increased CSF and sometimes skull enlargement, typically the result of obstruction to CSF ciruclation or increased CSF production (choroid plexus papilloma - rare)
|
|
|
What is hydrocephalus ex vacuo?
|
Hydrocephalus without obstruction or increased CSF production. Seen in disorders with decreased cerebral mass, such as ischemic brain atrophy or Alzheimer's disease (degeneration of caudate nuclei).
|
|
|
What form of hydrocephalus is characterized by having the increased volume of CSF confined entirely within the ventricles?
|
Internal hydrocephalus
|
|
|
What form of hydrocephalus is characterized by having the increased volume of CSF confined to the subarachnoid space?
|
External hydrocephalus
|
|
|
What form of hydrocephalus is characterized by the free flow of CSF between the ventricles and the subarachnoid space?
|
Communicating hydrocephalus
|
|
|
What form of hydrocephalus is characterized by the obstructed flow of CSF from the ventricles to the subarachnoid space?
|
Noncommunicating hydrocephalus
|
|
|
What AD disorder is characterized by nodular proliferation of multinucleated atypical astrocytes forming tubers (small white nodules scattered in the cerebral cortex and periventricular areas), sebaceous adenoma, and angiomyolipoma of the kidney?
|
Tuberous sclerosis syndrome (TSC1 and TSC2 mutations)
|
|
|
What neurological symptoms are associated with Tuberous sclerosis?
|
- Developmental delays
- Mental retardation - Seizures **All neurological symptoms begin in infancy** |
|
|
What pathological abnomality is characterized by the downward displacement of the cerebellar tonsils and medulla through the foramen magnum; resulting in pressure atrophy of displaced brain tissue and hydrocephalus?
|
Arnold-Chiari malformation (presence of a thoracolumnar meningomyelocele is characteristic).
|
|
|
What are the most common sites of thrombotic occlusion?
|
Carotid bifurcation and middle cerebral artery (MCA)
|
|
|
What is the most common site of embolic occlusion?
|
Middle Cerebral Artery (MCA)
|
|
|
What type of stroke is associated with a lacunar infarct in the internal capsule?
|
Pure motor lacunar stroke (focal motor loss)
|
|
|
What type of stroke is associated with a lacunar infarct in the thalamus?
|
Pure sensory lacunar stroke (focal sensory loss)
|
|
|
What is most common site of intracerebral hemorrhage?
|
Basal ganglia/thalamus
|
|
|
What are the predisposing factors for intracerebral hemorrhage (Bleeding into the brain tissue)?
|
- Hypertension
- Coagulation disorders - Hemorrhage within a tumor **Most common cause is HTN** |
|
|
What are the predisposing factors for subarachnoid hemorrhage (Bleeding into the subarachnoid space)?
|
Rupture of a congenital berry aneurysm; likelihood of rupture is compounded by HTN.
|
|
|
What type of hemorrhage is frequently associated with berry aneurysm of the Circle of Willis?
|
Subarachnoid hemorrhage
|
|
|
What cerebrovascular condition is presents with temporary impaired neurological function as a result of temporary disturbance of cerebral circulation?
|
Transient Ischemic Attack (TIA) - damage is not permanent but is considered a precursor for more serious occlusive events.
|
|
|
What term describes a nonpenetrating brain injury at the site impact?
|
Coup injury
|
|
|
What term describes a nonpenetrating brain injury on the side opposite of impact?
|
Countercoup injury
|
|
|
What type of cerebrovascular condition is most commonly the result of laceration of branches of the middle cerebral artery (MCA); this condition typically the result fracture of the overlying skull at the pteryion?
|
Epidural hematoma
|
|
|
What traumatic injury presents with a short period of consciousness (lucid interval) followed by rapidly developing signs of cerebral compression?
|
Epidural hematoma (skull fracture and subsequent laceration of the middle cerebral artery)
|
|
|
What type of traumatic brain bleed is the result of venous bleeding, most often from bridging veins joining the cerebrum to venous sinuses within the dura?
|
Subdural hematoma
|
|
|
What type of traumatic brain bleed present clinically with gradual signs of cerebral compression occurring hours to days or even weeks after head injury?
|
Subdural hematoma
|
|
|
What are the clinical manifestations associated with pyogenic meningitis?
|
- Fever
- Headache - Prostration - Nuchal rigidity |
|
|
Leptomeningeal venulitis with venous occlusion and hemorrhagic infarcts is a potential complication of what type of infection?
|
Pyogenic meningitis
|
|
|
What the CSF findings of diagnostic significance associated with pyogenic meningitis?
|
- Numerous neutrophils
- Decreased glucose (less than two thirds of the serum glucose concentration) - Increased protein |
|
|
What etiologies are associated with pyogenic meningitis in neonates and infants?
|
- Group B Streptococci (GROUP B = BABIES)
- Escherichia coli - Listeria monocytogenes |
|
|
What etiologies are associated with pyogneic meningitis in children and young adults?
|
- Streptococcus pneumoniae (pneumococcus)
- Neisseria meningitidis |
|
|
What etiology is associated with pyogenic meningitis in older adults?
|
- Streptococcus pneumoniae
- Gram (-) rods |
|
|
What fungal infections are associated with the brain and the meninges
|
- Cryptococcus neoformans
- Coccidioides immitis - Aspergillus - Histoplasma **Often associated with immunocompromised individuals** |
|
|
What parasitic infection of the brain is transmitted transplacentally and by ingestion of foods contaminated by animal urine or feces (cats)?
|
Toxoplasma gondii (Toxoplasmosis)
|
|
|
What characteristic CT finding is observed in Toxoplasmosis?
|
Ring-enhancing lesions (periventricular calcifications) in the cerebral cortex, basal ganglia, and retinae.
|
|
|
What are the clinical findings associated with viral meningitis?
|
- Fever
- Headache - Nuchal rigidity |
|
|
What CSF findings are characteristic of viral meningitis?
|
- Increased lymphocytes
- Moderately increased protein - Normal glucose concentration |
|
|
What are the morphological changes seen in meningoencephalitis and encephalitis?
|
- Perivascular cuffing (inflitrate of mononuclear cells within Virchow-Robin spaces)
- Inclusion bodies in neurons or glial cells - Glial nodules as a result of nonspecific proliferation of microglia |
|
|
What viral infection of the brain is characterized by degeneration and necrosis of the anterior horn cells of the spinal cord?
|
Poliomyelitis
|
|
|
What viral infection of the brain is characterized histologically by neuronal degeneration, perivascular accumulation of mononuclear cells in the brain stem and spinal cord, and characteristic eosinophilic intracytoplasmic inclusions (Negri bodies) in the hippocampus and Purkinje cells of the cerebellum?
|
Rabies
|
|
|
How does a severe CMV infection present in infants?
|
- Mental retardation
- Mircocephaly - Chorioretinitis - Hepatosplenomegaly **Periventricular calcification within the brain is demonstrable** |
|
|
How does HIV gain entry into the nervous system?
|
Via infect monocytes and macrophages
|
|
|
What is the most common etiology associated with Progressive Multifocal Leukoencephalopathy (PML)?
|
JC polyoma type of papovarius (preferentially infects oligodendrocytes, thus causing demyelination)
|
|
|
What viral infection of the brain is characterized by rapidly progressive multiple foci of demyelination in the brain, associated with abnormal oligodendrocytes and astrocytes?
|
Progressive Multifocal Leukoencephalopathy (PML)
|
|
|
What condition results in benign intracranial hypertension without evidence of tumor or obstruction?
|
Pseudotumor cerebri
|
|
|
Normal CT and MRI, Increased CSF pressure (> 300 mm H20) and decreased CSF protein are diagnostic indicators of which condition?
|
Pseudotumor cerebri
|
|
|
What type of herniation results in the herniation of the cingulate gyrus under the falx cerebri causing compression of the anterior cerebral artery?
|
Subfalcine herniation
|
|
|
What type of herniation results in the herniation of the medial portion of temporal lobe through the tentorium cerebelli?
|
Uncal herniation
|
|
|
What type of herniation can present with midbrain hemorrhages (Duret's hemorrhages), oculomotor nerve palsy (eye deviated down and out), and mydriasis (dilated pupil)?
|
Uncal herniation
|
|
|
What type of herniation can result in cardiorespiratory arrest?
|
Tonsillar herniation
|
|
|
What type of herniation is characterized by the herniation of the cerebellar tonsils into the foramen magnum?
|
Tonsillar herniation
|
|
|
What is the most common cause of hydrocephalus in newborns?
|
Stricture of the aqueduct of Sylvius
|
|
|
What syndrome is associated with hydrocephalus as a result of stricture of the aqueduct of Sylvius?
|
Parinaud's syndrome (paralysis of upward gaze also known as dorsal midbrain syndrome)
|
|
|
What condition results from the caudal extension of medulla and cerebellar vermis through foramen magnum?
|
Arnold-Chiari malformation
|
|
|
What physical finding of the skull is associated with Arnold-Chiari malformation?
|
Platybasia (flattening of base of skull)
|
|
|
What type of CNS malformation is characterized by hypoplasia of the cerebellar vermis and cystic dilation of the 4th ventricle?
|
Dandy-Walker malformation
|
|
|
What condition is characterized by the degeneration of spinal tracts as a result of cervical cord enlargement due to an expanding fluid-filled cavity?
|
Syringomyelia
|
|
|
What are the clinical findings associated with Syringomyelia?
|
Loss of pain and temperature sensation in the hands.
|
|
|
What type of CNS vascular disorder is characterized by laminar necrosis and watershed infarcts?
|
Diffuse/Global hypoxia injury
|
|
|
What type of stroke result in a pale infarction extending to periphery of cerebral cortex?
|
Atherosclerotic (thrombotic) stroke
|
|
|
How will a thrombotic stroke involving the MCA present?
|
- Contralateral hemiparesis and sensory loss of the upper extremity
- Visual field defects - Head and eyes deviating toward the side of the lesion (ipsilaterally) |
|
|
How will a thrombotic stroke involving the vertebrobasilar arterial system present?
|
- Vertigo, ataxia
- Ipsilateral sensory loss in face - Contralateral hemiparesis and sensory loss in the trunk and limbs |
|
|
What type of stroke results in a hemorrhagic infarction extending to periphery of cerebral cortex?
|
Embolic stroke
|
|
|
What are the most common site associated with intracerebral hemorrhage?
|
1. Basal ganglia
2. Thalamus 3. Pons and cerebellar hemispheres |
|
|
What is the most common cause of intracerebral hemorrhage?
|
Hypertension
|
|
|
What is the most common etiology associated with subarachnoid hemorrhage?
|
Congenital Berry aneurysm
|
|
|
What is the yellowish color of CSF that is seen in subarachnoid hemorrhage called?
|
Xanthochromia
|
|
|
What type of CNS vascular disorder presents and the "worst headache of my life?"
|
Subarachnoid hemorrhage (may also present with nuchal rigidity)
|
|
|
What type of stroke is characterized by cystic areas of microinfarction less than 1 cm in diameter?
|
Lacunar infarcts?
|
|
|
What type of infarct is caused by hyaline arteriosclerosis secondary to either hypertension or diabetes?
|
Lacunar infarct
|
|
|
What is the most common route of CNS infection?
|
Hematogenous (other routes include traumatic implantation, local extension from nearby infection, and ascent of peripheral nerves) - most CNS infections are due to sepsis
|
|
|
What are the clinical findings associated with meningitis?
|
- Fever
- Nuchal rigidity - Headache |
|
|
What are the clinical findings associated with encephalitis?
|
- Fever
- Headache - Impaired mental status - Drowsiness - |
|
|
What type of meningitis will present with decreased CSF glucose, increased CSF protein, and increased CSF leukocytes?
|
Bacterial and fungal meningitis
|
|
|
Bilateral intranuclear opthalmoplegia is pathognomonic for what demyelinating disease?
|
Multiple Sclerosis
|
|
|
What is a useful mnemonic to remember the clinic presenting features associated with MS?
|
SIN:
- Scanning speech - Intention tremor - Incontinence - Intranuclear opthalmoplegia (bilateral) - Nystagmus |
|
|
What non-glial tumor is characterized by intracortical, multinodular cystic lesions that are comprised of oligodendroglia-like cells and "floating neurons (mixture of glial cells and neurons)?"
|
Dysembryoplastic neuroepithelial tumor (pts. may be young presenting with intractable epilepsy and temporal lobe lesions).
|
|
|
What type of cystic-mural nodular tumor composed of glial cells and dysplastic neuronal cells is seen in a young adult pt. with intractable epilepsy?
|
Ganglioglioma
|
|
|
What grade of tumor (high or low) is associated with a cystic-mural nodular tumor?
|
Low grade (i.e. benign)
|
|
|
What non-glial tumor is typically seen in the lateral ventricle, near the foramen of Monro in adult patients?
|
Central neurocytoma (resemble oligodendrogliomas but stain positive with synaptophysin)
|
|
|
What small round blue cell tumor typically results in a cerebellar lesion in children that is characterized by Homer-Wright pseudorosettes?
|
Medulloblastoma
|
|
|
What mutation is linked with a dismal prognosis for a pt. with medulloblastoma?
|
sPNET
|
|
|
What mutation is associated with atypical teratoid/rhabdoid tumors?
|
Loss of hSNF5/INI1 gene on chromosome 22
|
|
|
What is the most common type of primary CNS lymphoma?
|
Diffuse large B-cell lymphomas (will stain positive with B-cell markers such as CD20)
|
|
|
What pineal tumor is characterized by round, regular cells surrounding islands of neuropil?
|
Pineocytoma
|
|
|
What pineal tumor is characterized as a small round blue cell tumor?
|
Pineoblastoma
|
|
|
What non-glial tumor is more common in adult women and presents typically with dural attachment?
|
Meningioma (most often occurs in convexities and parasagital region)
|
|
|
What non-glial tumor is characterized histologically by spindled cells arranged in a whorled pattern and psammoma bodies?
|
Meningioma (2nd most common primary brain tumor)
|
|
|
What cyst-mural nodular tumor most commonly occurs in the cerebellum and is associated with AD VHL disease?
|
Hemangioblastoma (consists of vessels of varying caliber and lipidized stromal cells)
|
|
|
What tumors are associated with AD VHL disease?
|
- Hemangioblastomas of brain and retina
- Pheochromocytomas - Microcytic adenomas of pancreas - Cystic lesions of epididymis - Endolymphatic sac tumors |
|
|
What type of tumors tend to present as multiple, well-demarcated lesions located at gray-white junctions?
|
Metastatic Tumors (account for 50% of CNS lesion; lung cancer commonly metastasizes to gray-white junctions)
|
|
|
What tumor is usually found at the cerebellopontine angle arising from Schwann cells?
|
Schwannoma (often localized to CN VIII)
|
|
|
What are the two patterns of cellular structure associated with Schwannoma?
|
Antoni A - more densely cellular with a palasading structure know as Verocay bodies.
Antoni B - loose or myxoid cellularity |
|
|
Bilateral acoustic neuromas (i.e. CNVIII Schwannomas) are pathognomonic for what AD disease?
|
Neurofibromatosis Type II (loss of tumor suppressor gene or chromosome 22q12)
|
|
|
What AD neurocutaneous disorder presents with Cafe-au-lait spots, Lisch nodules, neurofibromas in skin, optic gliomas, and pheochromocytomas?
|
Neurofibromatosis Type I (von Recklinghausen's disease = 17 letters = loss of chromosome 17)
|
|
|
What type of tumor is intimately involved with and expands involved nerve?
|
Neurofibroma
|
|
|
What supersellar tumor most often occurs in children and occurs in two types (adamantinomatous and papillary types)?
|
Craniopharyngioma (most common childhood supratentorial tumor)
|
|
|
Which type of craniopharyngioma is more common in adults?
|
Papillary Craniopharyngioma
|
|
|
What type of supratentorial astrocytoma will present without contrast enhancement with CT imaging?
|
Diffuse astrocytoma (pathologically presents as a poorly demarcated and infiltrative lesion)
|
|
|
What type of astrocytoma presents in male pts. older than 40 with partial enhancement on CT imaging?
|
Anaplastic astrocytoma (mitotic activity distinguishes anaplastic astrocytoma from other low grade astrocytomas)
|
|
|
What proliferation marker is used to stain for anaplastic astrocytoma?
|
MIB-1 immunostain
|
|
|
What type of astrocytoma presents clinically in males > 50 with a ring-like zone of contrast enhancement upon CT imaging?
|
Glioblastoma (poor prognosis, most common primary brain tumor, AKA glioblastoma multiforme)
|
|
|
What are the pathological features associated with glioblastoma?
|
- Mitotic activity
- Vascular endothelial proliferation - Necrosis with "pseudopalisading" pleomorphic tumor cells |
|
|
What tumor is often found in the cerebral hemispheres and can cross the corpus callosum ("butterfly glioma")?
|
Glioblastoma
|
|
|
What genetic alterations are associated with primary glioblastoma?
|
EGFR amplification, loss of PTEN, and amplification of MDM2.
|
|
|
What genetic alterations are associated with secondary glioblastoma?
|
TP53 mutations and PDGF receptor overexpression.
|
|
|
What type of tumor will be seen in a child w/ a cerebellar tumor in which a biopsy shows Rosenthal fibers histologically?
|
Pilocytic astrocytoma (cyst-mural nodule)
|
|
|
What are Rosenthal fibers?
|
Eosinophilic, corkscrew fibers that are characteristic of pilocytic astrocytoma.
|
|
|
What type of tumor that is a cystic lesion w/ mural nodule will present in a young pt. w/ a long hx of recurrent seizures?
|
Pleomorphic xanthoastrocytoma
|
|
|
What pathological features are associated with pleomorphic xanthoastrocytoma?
|
Tumor that is a cystic lesion w/ mural nodule that originates from subpial astrocytes, that are pleomorphic appearing and sometimes lipidized.
|
|
|
What type of astrocytoma will be found in the lateral ventricles of a pt. with worsening epilepsy or signs of increased intracranial pressure?
|
Subependymal giant cell astrocytoma
|
|
|
What are the pathological features of oligodendroglioma?
|
- Fried-egg cell appearance
- Chicken-wire capillary appearance (network of anastomosing blood vessels) - Calcification on CT |
|
|
What genetic alterations are diagnostic of oligodendroglioma?
|
Loss of chromosome 1p and 19q
|
|
|
What genetic alteration is associated with anaplastic oligodendroglioma?
|
Loss of chromosome 9p
|
|
|
What type of tumor is characterized by ependymal rosettes and canals as well as perivascular pseudorosettes?
|
Ependymoma
|
|
|
Ependymomas of the spinal cord are more common in what age group?
|
Adults
|
|
|
Ependymomas of the 4th ventricle are more common in what age group?
|
Children
|
|
|
What genetic alteration has been linked to ependymoma?
|
Monosomy 22 (also ependymoma may be associated with neurofibromatosis type II; NF-2)
|
|
|
What type of ependymal tumor occurs almost exclusively in the region of the filum terminale?
|
Myxopapillary ependymoma (papillary elements in a myxoid background)
|
|
|
What is the most common location for a choroid plexus papilloma in children?
|
Lateral ventricles
|
|
|
What is the most common location for a choroid plexus papilloma in adults?
|
4th ventricle (pts. will probably present with signs of hydrocephalus)
|
|
|
What is the leading cause of death in patients with serious trauma?
|
Head injury
|
|
|
What term refers to a superficial injury produced when blunt impact scrapes away a portion of skin?
|
Abrasion
|
|
|
What term refers to a bruise resulting from blunt force causing vessels beneath the surface to break?
|
Contusion
|
|
|
What term refers to the splitting open/tearing of the skin in response to blunt trauma?
|
Laceration
|
|
|
What term refers to swelling and discoloration of the upper and lower eyelids; usually due to fractures of the orbital plates?
|
Periorbital ecchymosis ("raccoon eyes")
|
|
|
What term refers to discoloration overlying the mastoid area behind the ear; usually due to fracture of the petrous portion of the temporal bone?
|
Retromastoid ecchymosis (Battle sign)
|
|
|
What term refers to a simple fracture line that tends to originate from point of impact; usually results from broad-based forces?
|
Linear fracture
|
|
|
What are the two types of basilar fractures?
|
- Hinge fracture
- Ring fracture **Both types of basilar fractures (i.e. at the base of the skull) require significant forces** |
|
|
What term describes a fracture that extends into and opens a suture?
|
Diastatic fracture (commmon in children)
|
|
|
What term refers to wedge-shaped bruises of the cortical surface consisting of hemorrhages resulting from torn vessels?
|
Contusions (subpial layer is affected)
|
|
|
What type of brain injury though to result from angular acceleration with shearing of axons is most common seen in motor vehicle accidents and shaken infants?
|
Diffuse axonal injury
|
|
|
What are the pathological findings associated with diffuse axonal injury?
|
Hemorrhagic lesions in subcortical white matter, corpus callosum, and dorsolateral quadrants of rostral brainstem?
|
|
|
What histological stain is useful in diagnosing diffuse axonal injury?
|
Amyloid precursor protein
|
|
|
What terms describes a blunt force injury that results in the separation of pons from medulla?
|
Brainstem avulsion
|
|
|
What are the complications of CNS trauma?
|
- Brain swelling and increased intracranial pressure
- Hypoxic/ischemic brain damage |
|
|
What type of intracranial hemorrhage is most commonly located over the convexity in the frontoparietal region and is often crescent-shaped?
|
Subdural hematoma
|
|
|
What histochemical stain is used to stain myelin of peripheral nerves?
|
Toluidine blue
|
|
|
What is the most commonly biopsied nerve in clinical practice?
|
Sural nerve (pure sensory nerve, in which the unmyelinated axons and small myelinated axons outnumber larger myelinated axons)
|
|
|
What histological and EM finding is indicative of a chronic demyelination process?
|
Onion bulb (concentric layers of Schwann cell cytoplasm and basement membrane surrounding the thinly myelinated axon)
|
|
|
What pathological process is indicated by large axons with thin myelin sheaths?
|
Demyelination disease
|
|
|
What term describes when a focal lesion (transection) leads to degeneration of the nerve fiber distal to the site of injury?
|
Wallerian degeneration
|
|
|
What condition presents with inflammation and demyelination of nerve and motor fibers of ventral nerve roots, causing symmetrical ascending muscle weakness beginning in the lower extremities?
|
Guillain-Barre Syndrome (usually follows and antecedent flu-like illness)
|
|
|
What demyelinating disease is characterized pathologically by segmental demyelination as well as perivenular and endoneurial lymphocytes and macrophages localized to spinal and cranial motor nerve roots?
|
Guillain-Barre Syndrome
|
|
|
What immunostain is used to highlight lymphocytic cells in a nerve root ganglion in Guillain-Barre syndrome?
|
CD45 immunostain
|
|
|
What condition is characterized by recurrent demyelination and remyelination with onion bulb formation?
|
Chronic Inflammatory Demyelinating Polyradiculopathy
|
|
|
What type of infectious neuropathy results in localized peripheral nerve involvement with granulomatous inflammation and a few organisms?
|
Tuberculoid leprosy
|
|
|
What autsomal dominant disease presents a progressive muscular atrophy of the calf beginning in childhood or early adulthood?
|
Charcot-Marie-Tooth Disease (Hereditary Motor and Sensory Neuropathy I)
|
|
|
What genetic alteration is associated with HMSN I (Charcot-Marie-Tooth Disease)?
|
Duplication of part of chromosome 17 (including the region encoding peripheral myelin protein 22)
|
|
|
What is the most common cause of peripheral neuropathy seen in clinical practice?
|
Diabetes mellitus
|
|
|
What type of ischemic brain damages may be the result of cardiac arrest, shock, or severe hypotension?
|
Global cerebral ischemia (diffuse/hypoxic ischemia)
|
|
|
What are the most common sites for thrombosis in cerebral vessels?
|
- Carotid bifurcation
- Origin of the MCA - Ends of the basilar artery |
|
|
What cerebral vessel is most commonly affected by emboli?
|
Middle cerebral artery (MCA)
|
|
|
What are the predisposing factors for saccular (berry) aneurysms?
|
HTN, AD polycystic kidney disease, Connective tissue diseases (Ehlers-Danlos, Marfan, neurofibromatosis, fibromuscular dysplasia)
|
|
|
What type of small microaneurysms are associated with intracerebral hemorrhage?
|
Charcot-Bouchard
|
|
|
What type of hemorrhage typically occur most frequently in the basal ganglia, thalamus, pons, and cerebellum?
|
Hypertensive hemorrhage
|
|
|
What vascular disorder of the CNS is characterized by granulomatous inflammation of blood vessels only in the CNS?
|
Primary angiitis of CNS
|
|
|
What vascular abnormality of the CNS is characterized by a tangled mass of abnormal vessels separated by gliotic brain tissue?
|
Arteriovenous malformation (AVM) - typicaly presents in males 10-30 yrs old.
|
|
|
What is suspected in a young patient presenting with recurrent strokes, free of any risk factors for stroke, with a strong FH of stroke?
|
CADASIL - Cerebral Autosomal-Dominant Arteriopathy w/ subcortical infarcts and leukoencephalopathy.
|
|
|
Mutation of which gene is associated with CADASIL?
|
Notch3
|
|
|
What disease is characterized pathologically by concentric thickening of media and adventitia, as well as basophilic, PAS highlighted granular deposits?
|
CADASIL
|
|
|
What low grade astrocytoma is typically associated with Tuberous sclerosis and tends to located in the lateral ventricle?
|
Subependymal giant cell astrocytoma
|
|
|
What type of astrocytoma looks like a glioblastoma histologically but does not have mitoses, vascular proliferation, or necrosis?
|
Pleomorphic xanthoastrocytoma
|
|
|
Which type of ependymoma commonly occurs in the ventricles?
|
Clear cell ependymoma
|
|
|
What type of tumor is likely present in a 20 year old patient with long history of seizures unresponsive to all AEDs, scan shows superficial temporal lesion, and biopsy show oligodendroglioma-like cells but also shows neurons?
|
Dysembryoplastic neuroepithelial tumor
|
|
|
What tumor is a malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation?
|
Triton tumor
|
|
|
What is the malignant counterpart to neurofibroma?
|
Malignant peripheral nerve sheath tumors (are sarcomas and tend to occur in patients with NF-1).
|
|
|
What head finding indicates fracture of the orbital plate?
|
Periorbital ecchymosis ("raccoon eyes")
|
|
|
What type of injury is seen in angular acceleration (e.g. sudden stopping of vehicle)?
|
Diffuse axonal injury: shearing of axons - also occurs with shaken infants, can immediately lead to unconsciousness and death, but brain usually looks unremarkable on gross section.
|
|
|
What stain is used to visualize myelinated peripheral nerves?
|
Toluidine blue and Luxol Fast Blue
|
|
|
What are the common types of peripheral nerve injuries?
|
Segmental demyelination (10%) and axonal degeneration (90%)
|
|
|
What is the most common hereditary neuropathy?
|
Charcot-Marie-Tooth-disease(HMSN I) - AD duplication of 17p at peripheral myelin protein 22 gene).
|
|
|
What is classically seen in neurogenic atrophy of skeletal muscles?
|
- Angular atophic, esterase positive myofibers
- Fiber type grouping: type I fibers group together in one location, type II fibers group together elsewhere (instead of alternating fiber distribution seen in normal males). - Target fiber (hole in muscle fiber): stained with NADH |
|
|
What is the underlying etiology associated with myasthenia gravis?
|
- AChR Abs
- MuSK Abs ** Associated with thymic hyperplasia/thymoma** |
|
|
What is the underlying etiology associated with Lambert-Eaton syndrome?
|
Ab against presynaptic calcium channels, 50% associated with small cell lung cancer (older patients) and 50% associated with autoimmune (younger patients).
|
|
|
What is an effective screen test for Multiple Sclerosis?
|
CSF evaluation: looking for oligoclonal bands in CSF.
|
|
|
What is the primary lesion seen in MS?
|
Plaques of demyelination: periventricular white (classical site), gray-white junctions, optic nerves/tract/chiasm, brainstem ascending/descending tracts, subpial region of spinal cord.
|
|
|
What morphological variant of macrophages are seen in demyelinating diseases?
|
Crutzfeldt cells: macrophages with mitotic figures
|
|
|
What type of infiltrate is associated with active plaques of demyelination in an MS patient?
|
Perivascular mononuclear T cell infiltrates
|
|
|
What clinical variant of MS is characterized by a lesion that can rapidly progress causing extensive demyelinatiod, and be fatal acutely?
|
Marburg type MS (Acute)
|
|
|
What clinical variant of MS affects only the optic pathway and/or spinal cord?
|
Delvic disease
|
|
|
What clinical variant of MS is characterized by only concentric areas of demyelinaiton?
|
Balo concentric sclerosis
|
|
|
What disease is characterized by perivenous encephalomyelitis: acute, monophasic demyelination in children with those affected recovering?
|
Acute Disseminated Encephalomyelitis (AEDM) - usually present following a viral illness or immunization).
|
|
|
What disease similar to ADEM pathologically but is usually fatal due to petechial hemorrhages in the demyelinated white matter?
|
Acute Hemorrhagic Leuko-encephalomyelitis
|
|
|
What infectious demyelinating disease has a predilection for affecting oligodendrocytes?
|
Progressive Multifocal Leukoencephalopathy (JC papova virus)
|
|
|
What infectious demyelinating disease is the result of persistent infection of immune resistant measles virus?
|
Subacute sclerosing panecephalitis (SSPE)
|
|
|
What distinguishes leukodystrophies from MS pathologically?
|
Leukodystrophies spare the subcortical arcuate fibers, whereas in MS they are affects(!)
|
|
|
Which leukodystrophy results from AR arylsulfatase A deficiency?
|
Metachromatic leukodystrophy (metachromatic accumulation in macrophages/Schwann cells, prismatic/tuffstone inclusions (EM)
|
|
|
Which leukodystrophy results from AR galactocerebrosidase deficiency?
|
Krabbe disease (psychosine accumulation, demyelination with multinucleated globoid cells)
|
|
|
What demyelinating disease presents with macrocephaly, demyelination, and large numbers of Rosenthal fibers?
|
Alexander Disease
|
|
|
What demyelinating disease is due to X-linked proteolipid protein synthesis defect?
|
Pelizaeus-Merzbacher disease
|
|
|
What enzyme deficiency is associated with Canavan disease?
|
Aspartoacylase enzyme deficiency (autosomal recessive)
|
|
|
What two conditions are characterized by the presence of Alzheimer's type 2 astrocytes?
|
Canavan disease and Hepatic Encephalopathy
|
|
|
What leukodystrophies can cause demyelination of PNS?
|
- Metachromatic leukodystrophy
- Krabbe disease |
|
|
What characterizes alcoholic cerebellar degeneration?
|
Atrophy of anterior, superior vermis (results in truncal ataxia, unsteady gait, nystagmus, loss of Purkinje cells with Bergmann gliosis).
|
|
|
What syndrome is characterized by mamillary body lesions?
|
Wernicke-Korsakoff syndrome
|
|
|
What condition that may result in diamond-shaped demyelination in basis pontis is commonly due to rapid correction of hyponatremia?
|
Central Potine Myelinolysis
|
|
|
What type of chronic poisoning results in bilateral necrosis of globus pallidus?
|
CO poisoning (carbon monoxide poisoning) - if you see "bilaterally symmetric" lesion of globus pallidus think CO poisoning
|
|
|
What type of poisoning should be suspected if a patient presents with bilaterally symmetric lesions of the putamen and degeneration of retinal ganglions?
|
Methanol poisoning (treat with ethanol) - if you see bilaterally symmetric lesions of the putamen think methanol poisoning
|
|
|
What type of poisoning should be suspected if a patient presents with nuchal rigidity, wrist/foot drop, epigastric pain/vomiting, and chronic TIN?
|
Lead poisoning
|
|
|
What type of poisoning can result in the basophilic stippling of RBCs?
|
Lead poisoning
|
|
|
What chemotherapeutic agent can cause brain damage?
|
Methotrexate (causes white matter damage with swollen axons)
|
|
|
What histological finding is unique to solvent abuse leukoencephalopathy?
|
PAS positive macrophages around the vessels.
|
|
|
What physical/clinical finding is indicative of Vit. B12 deficiency in CNS?
|
Severe paresthesias in lower limbs
|
|
|
What deficiency is characterized pathologically by combined posterior and lateral column degeneration of the spinal cord?
|
Vit. B12 deficiency (very important potential test question)
|
|
|
What enzyme is deficient in a 6-month old child that present with a cherry-red spot on retinal exam and progressive mental and motor deterioration?
|
Hexosaminidase A deficiency (autosomal recessive) - more common in Ashkenazi Jews
|
|
|
What are the most common findings in mucopolysaccharidoses?
|
- Coarse facial features
- Corneal clouding (cataracts) - Joint stiffness - Mental retardation |
|
|
What peroxisomal disorder presents as a combination of leukodystrophy and abnormal neuronal migration?
|
Zellweger syndrome (generalized peroxisomal dysfunction results in accumulation of very long chain fatty acids which causes abnormal neuronal migration and/or myelination disturbances)
|
|
|
What pathological finding is characteristic of mitochondrial encephalomyopathy?
|
Ragged red fibers
|
|
|
What enzyme is deficient in a child that has spongiform degeneration and proliferation of blood vessels in periventricular gray matter (looks like Wenicke-Korsakoff but occurs in children)?
|
Cytochrome C Oxidase (Leigh syndrome)
|
|
|
What encephalomyopathies are transmitted maternally (mitochondrial tRNA) and present with lactic acidosis and ocular abnormalities?
|
MELAS & MERRF
|
|
|
What are the most common findings in mucopolysaccharidoses?
|
- Coarse facial features
- Corneal clouding (cataracts) - Joint stiffness - Mental retardation |
|
|
What peroxisomal disorder presents as a combination of leukodystrophy and abnormal neuronal migration?
|
Zellweger syndrome (generalized peroxisomal dysfunction results in accumulation of very long chain fatty acids which causes abnormal neuronal migration and/or myelination disturbances)
|
|
|
What pathological finding is characteristic of mitochondrial encephalomyopathy?
|
Ragged red fibers
|
|
|
What enzyme is deficient in a child that has spongiform degeneration and proliferation of blood vessels in periventricular gray matter (looks like Wenicke-Korsakoff but occurs in children)?
|
Cytochrome C Oxidase (Leigh syndrome)
|
|
|
What encephalomyopathies are transmitted maternally (mitochondrial tRNA) and present with lactic acidosis and ocular abnormalities?
|
MELAS & MERRF
|
|
|
What type of mitochondrial encephalomyopathy is characterized by neuronal loss in inferior olives, cerebellar cortex, and cerebellar outflow nuclei?
|
MERRF
|
|
|
What conditions will present in children with stroke-like lesions in the white/gray matter?
|
MELAS (See a child with stroke-like lesion think MELAS)
|
|
|
What enzyme is deficient in Pompe disease (i.e. glycogen storage disease)?
|
Acid Maltase (systemic involvement of muscle, liver, and CNS)
|
|
|
What enzyme is deficient in McArdle's disease (i.e. glycogen storage disease)?
|
Myophosphorylase deficiency (only involves the muscles and is less severe than Pompe's disease).
|
|
|
What are the common findings associated with mitochondrial encephalomyopathies?
|
- Ragged red fibers
- Weakness with hypotonia - Lactic acidosis |
