Neuro Flashcards
(44 cards)
Lesch Nyhan syndrome
X linked. Deficiency in hypoxanthine guanine phosphoribosyl transferase (enz in purine metabolism)
Key Sx: !!self mutilation!!
Neurofibromatosis type 1 vs 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
Syringomyelia
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
Young pt with stroke, marfoid habitus, intellectual disabilities and “eye problems”
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
Idiopathic intracranial Hypertension (pseudotumor cerebri)
Intracranial hypertension without any findings on imaging. Frequent in young obese. Tx: weight reduction or acetazolamide
Wallenberg Syndrome
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
Horner syndrome (3)
miosis, ptosis, anhidrosis
Due to interruption of sympa n.
Primary generalized dystonia DYT-1
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
Ipsilateral weakness and loss of fine touch and vibration
Contralateral loss of pain and temp below level of lesion
Brown Sequard Syndrome
Bilateral weakness and bilateral loss of pain and temp
Ant cord syndrome: insult to 2/3 of spinal cord. Dorsal column preserved (fine touch, proprioception, vibration)
Central Cord Syndrome
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.
Type of brain hemorrhage/hematoma that presents with lucid period immediately following trauma
Epidural hematoma
2/3rd caused by middle meningeal artery tear
UMN vs LMN lesion sx
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
Left middle cerebral artery thrombosis sx
Hemiparesis arm>leg, APHASIA, gaze paresis (gaze preference toward side of lesion), (if it was right MCA could get hemineglect)
Aphasia, apraxia, agnosia
lesion in anterior circulation of carotid
Diploplia, crossed facial and body findings, homonynous heminopia
posterior vertebrobasilar circulation lesion
Arnold chiari malformation
Downward displacement of cerebella tonsils through the foramen magnum leading to hydrocephalus and aquductal stenosis
Dandy walker
Agenesis of cerebellar vermis with cystic enlargement of 4th ventricle (flls the enlarged posterior fossa). Associated with hydrocephalus and spina bifida.
Dysdiadochokinesia
impaired ability to perform rapid, alternating movements
Bacterial Meningitis
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
Juvenile myoclonic epilepsy
Convulsive seizures and diffuse EEG abnormalities. Prominent motor cortex inolvmt. Due to mutated GABA receptors.
Mesial temporal sclerosis
aka hippocampal sclerosis, MC associated with intractable temporal lobe epilepsy
Spinal Epidural Abscess
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
Sturge Weber syndrome
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.
