Neurobio physio Flashcards
Which gene is mutated in Sturge-Weber syndrome?
GNAQ
Define STURGE of Sturge-Weber
Sporadic, Tram track calcifications, Unilateral port-wine stain on V1/V2 region of face, Retardation (intellectual disability), Glaucoma and GNAQ gene, Epilepsy
Describe the HAMARTOMAS mnemonic in Tuberous Sclerosis
Hamartomas in CNS and skin Angiofibromas Mitral regurgitation Ash-leaf spots Rhamdomyomas Tuberous Sclerosis Autosomal D(O)minant Mental retardation renal Angiomyolipoma Seizures, Shagreen patches
Neurofibromatosis I is inherited as
Autosomal Dominant
Individuals with Tuberous Sclerosis have an increased incidence of which neural tumor?
Subependymal astrocytomas
What is the function of NF1?
tumor suppressor gene that negatively regulates RAS
Sturge Weber sx and Neurofibromas are both derived from which progenitors?
Neural crest cells
Von Hippel Lindau disease causes which three tumors?
Hemangioblastomas, bilateral renal cell carcinomas, and pheochromocytomas
Describe the histology of glioblastoma multiforme
“Pseudopalisading” pleomorphic tumor cells bordering areas of necrosis. Stain for GFAP
Is glioblastoma multiforme benign or malignant?
malignant
Which cells do meningiomas typically arise from?
Arachnoid cells
How can hemangioblastoma lead to polycythemia?
Tumor produces erythropoetin
Which disease is affiliated with hemangioblastomas?
Von Hippel Lindau
Where do you usually find hemangioblastomas?
Cerebellum (expect ipsilateral sx with balance, coordination, ataxia, etc)
Where do you typically find Schwanomas?
Cerebellopontine angle
Which nerve do Schwannomas typically localize to?
CN VIII (expect hearing loss)
Bilateral vestibular schwannomas can be attributed to which condition?
NF-2
Where do oligodendrogliomas typically localize to?
Frontal lobes
Describe the histology of oligodendrogliomas
“Chicken wire” capillary pattern with “fried egg” cells
Which part of the brain do you typically find glioblastoma multiforme in?
Cerebral cortex
In children, where do you typically find astrocytomas
posterior fossa (cerebellum)
What is the prognosis for medulloblastoma in a child?
It is highly malignant, poor prognosis; can form noncommunicating hydrocephalus by compressing 4th ventricle
What is the prognosis of ependymal tumors in a child?
Poor, can cause hydrocephalus
Describe the histology of ependymomas
perivascular rosettes
Where is a craniopharyngioma typically found
supratentorial region; derived from remnants of Rathke pouch
Describe histopathology of craniopharyngioma
“Motor oil” like cholesterol cysts found within tumor
What is Parinaud syndrome?
Vertical gaze palsy, typically due to pinealoma
What is the germ cell origin of Pinealomas
Germinomas
What is the most common pinealoma
Prolactinoma
Which structure can a subfalcine herniation compress?
Anterior cerebral artery
What are the complications of a downward transtentorial herniation?
Downward displacement of brainstem, rupture of paramedian basilar artery branches, hemorrhages, death
What are the complications of an uncal herniation?
CN III palsy (mydriasis and down and out eye); ipsilateral PCA compression (contralateral homonymous hemianopia with macular sparing)
What is the complication of a cerebellar tonsillar herniation into the foramen magnum
Coma and death when compressing brainstem
Which electrolyte imbalances can promote seizures?
Hypogmagnesemia and hypocalcemia
Segmental axonal demyelination is seen in which condition
Guillan-Barre
Lambert-Eatoon Syndrome is associated with which malignancy?
Lung cancer
Perifascicular muscle inflammation is seen with which disease?
Dermatomyositis
Which compound is deficient in CSF for pts with narcolepsy?
Hypocretin-1 (Orexin A) and Hypocretin-2 (Orexin-B)
Define cataplexy
Conscious, brief episodes of sudden bilateral muscle tone loss triggered by emotions like laughter or joking
Where are hypocretin 1 and 2 secreted?
Lateral hypothalamus
What is the function of hypocretin (orexin)?
Wakefulness and inhibition of REM sleep-related phenomena
Low CSF levels of 5-hydroxyindole-acetic acid is associated with
impulsive, destructive behaviors (aggression, suicide, violence)
CSF elevation of 14-3-3 protein is diagnostic of
Cretuzfeldt-Jakob disaese
Melatonin levels in CSF are associated with
Progression of Alzheimer’s disease
Four major symptoms of cavernous sinus thrombosis
Headache, fever, diplopia (ptosis) and ocular muscle paralysis
Which cranial nerves traverse the cavernous sinus?
III, IV, VI, V1 and V2
What can cause cavernous sinus thrombosis?
Infections from medial third of face, sinuses or teeth (S aureus, strep, Mucor/Rhizopus)