Neuro

Question 1

Lesch Nyhan syndrome

Answer 1

X linked. Deficiency in hypoxanthine guanine phosphoribosyl transferase (enz in purine metabolism)
Key Sx: !!self mutilation!!

Question 2

Neurofibromatosis type 1 vs 2

Answer 2

Type 1 (aka von Recklinghausen disease): Cafe au lait spts, macrocephaly, feeding problems, short stature, learning disabilities +/- fibromas, neurofibromas and tumors in general. Auto Dominant, 100% penetrance, NF1 on chrm 17

Type 2: Bilateral acoustic neuromas (shwannomas) and juvenile cataracts!! Meningiomas, epndymomas. NF2 on chrm 22

Question 3

Syringomyelia

Answer 3

CSF drainage form the central canal of the spinal card is disrupted–> fluid filled caivity compressing neural tissue. Damage MC at crossing fibers of the spinothalamic tract (pain and temp) and UE motor fibers (medial location of corticospinal tract). Muscle wasting and loss of pain and temp sensation in UE, normal light touch, vibration and proprioception
MC cause of Syrongomyelia: Arnold Chiari malformation and prior spinal cord injuries

Question 4

Young pt with stroke, marfoid habitus, intellectual disabilities and “eye problems”

Answer 4

Homocystinuria: Auto recessive, disorder of methionine metabolism 2/2 to cystathionine synthase deficiency
Marfoid habitus, fair hair and eyes, devlpt delay, CV accident 2/2 hypercoag sate, lens dislocation, megaloblastic anemia. (homocystine increased in urine)
Tx: Vit B6, folate, B12, antiplt, anticoag

Question 5

Idiopathic intracranial Hypertension (pseudotumor cerebri)

Answer 5

Intracranial hypertension without any findings on imaging. Frequent in young obese. Tx: weight reduction or acetazolamide

Question 6

Wallenberg Syndrome

Answer 6

Lateral medullary infarction:

• MC due to occluded intracranial vertebral a.
• Vestibulocerebellar sx: Nystagmus, vertigo, can’t sit upright without support. Falls to the side of lesion
• Sensory: Loss of Pain &Temp in ipsilateral face and contralat trunk (spinal trigeminal nucleus and tract) and limbs (Spinothalamic tract)
• Ipsilateral bulbar muscle weakness (dysphagia, dysarthria, hoarseness) due to invlmt of nucleus ambiguus.
• Auto dysfx: Horner’s syndrome, intractable hiccups, lack of auto respi drive (especially during sleep)
• Tx: IV trombolytics

Question 7

Horner syndrome (3)

Answer 7

miosis, ptosis, anhidrosis

Due to interruption of sympa n.

Question 8

Primary generalized dystonia DYT-1

Answer 8

Early onset torsion dystonia: Auto dominant, DYT1 due to mutation in the torsin A gene in substantia nigra. Generalized sx and progressive. Mvmt disorder No sensory loss
Dx: MRI
Tx: Deep Brain stimulation of globus pallidus pars interna, levodopa, benzo, baclofen, botox, antimuscarinic anticholinergics
DYT-5 is dopa responsive dystonia

Question 9

Ipsilateral weakness and loss of fine touch and vibration

Contralateral loss of pain and temp below level of lesion

Answer 9

Brown Sequard Syndrome

Question 10

Bilateral weakness and bilateral loss of pain and temp

Answer 10

Ant cord syndrome: insult to 2/3 of spinal cord. Dorsal column preserved (fine touch, proprioception, vibration)

Question 11

Central Cord Syndrome

Answer 11

injury to structures around the spinal central canal. Bilat loss of pain n temp sensation in UE and weakness, preserved fine touch. MC caused by intra-axial neoplasms or dilation of central canal.

Question 12

Type of brain hemorrhage/hematoma that presents with lucid period immediately following trauma

Answer 12

Epidural hematoma

2/3rd caused by middle meningeal artery tear

Question 13

UMN vs LMN lesion sx

Answer 13

UMN: Spastic paralysis, Hyperreflexia, Hypertonic (decerebrate-below midbrain, decorticate-above midbrain), disuse atrophy (moderate), abdominal and cremastic relfexes gone, positive babinski signs
LMN: Flaccid paralysis, Hyporeflexia, Hypotonic, wasting atrophy (severe), FASCICULATIONS, lost of voluntary mvmt

Question 14

Left middle cerebral artery thrombosis sx

Answer 14

Hemiparesis arm>leg, APHASIA, gaze paresis (gaze preference toward side of lesion), (if it was right MCA could get hemineglect)

Question 15

Aphasia, apraxia, agnosia

Answer 15

lesion in anterior circulation of carotid

Question 16

Diploplia, crossed facial and body findings, homonynous heminopia

Answer 16

posterior vertebrobasilar circulation lesion

Question 17

Arnold chiari malformation

Answer 17

Downward displacement of cerebella tonsils through the foramen magnum leading to hydrocephalus and aquductal stenosis

Question 18

Dandy walker

Answer 18

Agenesis of cerebellar vermis with cystic enlargement of 4th ventricle (flls the enlarged posterior fossa). Associated with hydrocephalus and spina bifida.

Question 19

Dysdiadochokinesia

Answer 19

impaired ability to perform rapid, alternating movements

Question 20

Bacterial Meningitis

Answer 20

CSF: Elevated protein content, low glucose, no or few rbcs, elevated opening pressure, milky or xanthochromic fluid, normal or slightly elevated gamma globulin content. 
Associated with severe illness. 
MC organism: 
Babies-E.Coli, Strep B 
Dorms, endemic worldwide-N.meningitis
After trauma- S.aureus
Immunocomp-Listeria (elderly as well)
No longer thanks to vaccine- H. influenzae

Question 21

Juvenile myoclonic epilepsy

Answer 21

Convulsive seizures and diffuse EEG abnormalities. Prominent motor cortex inolvmt. Due to mutated GABA receptors.

Question 22

Mesial temporal sclerosis

Answer 22

aka hippocampal sclerosis, MC associated with intractable temporal lobe epilepsy

Question 23

Spinal Epidural Abscess

Answer 23

Seen in DM and immunocompromised
Leg weakness and sensory loss (spares arms), + Babinski signs, bladder and bowel problems. Pt tenderness.
Dx: MRI w/ gadolinium contrast of spine (NOT CT). Tx: abx, surgery, steroids if cord compression or edema

Question 24

Sturge Weber syndrome

Answer 24

congenital, non inherited (somatic), dvlmpt anomaly of neural crest derivatices. Small vessels affected. Port-wine of the face in CN V1/V2 distribution, ipsilateral leptomeningeal angioma, seizures/epilepsy, intellectual disability, episcleral hemangioma–>early onset glaucoma.
Calcification follow cortex gyral looking like railroad track on imaging.

Question 25

Early withdrawal, Alcohol withdrawal, Alcoholic hallucination, Delirium tremens

Answer 25

Early withdrawal: tremor, anxiety, HA, with nrml MS; 1-36h after the last drink
Alcohol withdrawal: Seizures, 6-48h (1-2days) after last drink
Alcoholic hallucinations: 12h-48h (1-2days), tactile, visual, auditory hallucination with nrml vitals
Delirium tremens: 2-4days Delirium, HTN, agitation, tachycardia, diaphoresis

Question 26

Migraine Px, abortive,

Answer 26

-Prophylactic medications:  Topiramate(Topamax)**, Amitriptyline (Elavil)
Propranolol (Inderal)
Botox Injections (155 units 31 sites)**
**proven to work
-Abortive treatments: 
---Mild to moderate headache: Naproxen sodium (Naprelan),
Vistaril (Hydroxyzine)
---Severe Headache:  Triptan 
-Rescue: Phenergan suppository

Question 27

Most common highly malignant neoplasms in adults

Answer 27

gliobastoma (astrocytoma): ~1 year median survival, in hemispheres can cross carpus callosum (Butterfly glioma). Pseudopalisading, pleomorphic tumor cells central area of hemorrrhage or necrosis

Question 28

common benign brain tumor

Answer 28

Meningioma: Convexities of hemispheres (near brain surface) and parasagittal region. From arachnoid cells, dural attachment. Often asymptomatic, may present with seizures or focal neurological signs. Resection or radiosurgery. Spindle cells concentrically arranges in whorled pattern, psammoma bodies (laminated calcifications).

Question 29

Mc brain tumor in children

Answer 29

Pilocytic (lowgrade) astrocytoma: well circumscribed, most commonly in posterior fossa=intratentorial below tentorium cerebelli but also possible to be supratentorial. GFAP+. benign. good prognosis

Question 30

Medulloblastoma

Answer 30

highly malignant cerebellar tumor. Primitive neuroectodermal tumor, can compress 4th ventricle and cause hydrocephalus. Can send metatastasis to spine. Homer wright rosettes. solid small blue cells on histology

Question 31

Brain tumors with calcifications seen on xray

Answer 31

astrocytoma, meningioma, oligodendroglioma, or met tumor

Question 32

oligodendroglioma

Answer 32

Rare,slow growing, most often in frontal lobes. Chicken wire capillaries. Oligodendrocytes= “fried egg” cells. often calcified

Question 33

Von hippel Lindau syndrome

Answer 33

Brain tumor: hemangioblastomas (cerebellum or brainstem). Usually smptomatic by bleeding into themselves. Polycystic liver & kidney disease. Associated with high incidence of renal carcinoma.
Retineal tumors
Can produce erythropoietin leading to 2/2 polycythemia

Question 34

Hypothalamic hamartomas

Answer 34

non cancerous. Disorganized collection of neurons and glia accumulation at the tuber cinereum of hypothalamus (floor of 3rd ventricle). Congenital malformation during gestation. Sx: gelastic/laughing seizures. Precocious puberty or acromegaly.

Question 35

Parinaud syndrome

Answer 35

Loss of vertical gaze, loss of pupillary light reflex, lid retraction (collier’s sign) and convergence-retraction nystagmus (eyes appear to jerk back into orbit on attempted gaze). Lesions involving dorsal midbrain in reigon of superior colliculus.
Caused by pineal tumors or midbrain tumors, MS, stroke in upper brainstem

Question 36

Tay Sachs disease

Answer 36

Enzyme abnormality in HEXOSAMINIDASE A. Kids die prematurely and exhibit mental retardation, seizures, blindness. Ganglioside storage disease in Ashkenazi Jews. Macrocephaly and cherry red spot in the fundus.

Question 37

Gaucher disease

Answer 37

Most common. deficiency in GLucocerebrosidase (B-glucosidase) leading to accumulation of glucocerebroside. Hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells (lipid-laden macrophages resemblingcrumple tissue paper), tx: recombinant glucocerebrosidase

Question 38

Each pt treated with isoniazid should be treated with….

Answer 38

B6 pyridoxine!

Question 39

Acetylcholinesterase inhibitors (GRDT)

Answer 39

Augment cholinergic neurotransmitter system: Donepezil, Galantamine, Rivastigmine, Tacrine,
Memantine-dif mechanism NMDA receptor antagonist

Question 40

Degeneration of subtantia nigra

Answer 40

Parkinson’s or (MPTP drug)

Question 41

Lennox Gastaut syndrome (3)

Answer 41

Frequent seizures of multiple types (difficult to treat epilepsy), an abnormal EEG pattern of less than 2.5 Hz slow spike wave activity, and moderate to severe intellectual impairment.

Question 42

Organophosphate sx

Answer 42

Atropine antidote (with pralidoxime)

Question 43

Niemann Pick disease

Answer 43

Sphingomyelinase deficiency. Auto recessive. Age 2-6mth, loss of motor milestones. Hypotonia. Feeding difficulties. Cherry red macula . hepatosplenomegaly. areflexia (similar to tay sachs but hyperreflexia and beta-hexosaminidase A deficiency).

Question 44

Friedreich Ataxia

Answer 44

Auto recesive. Trinucleotide repeat on chrm 9, encodes frataxin. –> mito impairment. Degeneration of multiple spinal cord tracts, muscle weakness, loss of DTRs, vibratory sense and proprioception. Hypertrophic cardiomyopathy, ataxia, pes cavus, hammer toe, nystagmus, dysarthria.