Neuro Flashcards
Brain Abscess: fever, h/a, focal neuro deficits, seizure
Risk factors include:
- what conditions related to the head?
- what conditions related to the heart?
- Nocturnal symptom?
- Morning symptom?
Brain Abscess
Presentation: fever, h/a, focal neuro deficits, seizure
- -Nocturnal h/a
- -Morning vomiting
Risk Factors
- -direct spread: sinusitis, otitis, dental infection
- -hematogenous spread: infection, cyanotic heart dz
- Cyanotic Heart Disease
- -R2L shunt
- -bacteria in blood bypass pulmonary circulation, where they’re removed by phagocytosis
NB: similar presentation to tumor; imaging alone cannot tell difference; requires biopsy
DDx: flaccid paralysis
- descending flaccid paralysis
- descending flaccid paralysis preceded by n/v, abdominal pain, diarrhea
- ascending flaccid paralysis
DDx: flaccid paralysis
- Infant Botulism
–ingestion of C. botulinum spores
Tx: human-derived botulism Ig - Foodborne Botulism
–ingestion of preformed botulinum toxin
Tx: equine-derived botulism anti-toxin - Guillain-Barre Syndrome
–autoimmune peripheral nerve demyelination
Tx: IVIGs
Neuroblastoma
- -N-myc
- -usually adrenal or retroperitoneal
- -palpable, painful mass in flank or midline
- -calcification and hemorrhage on CT/Xray
- -elevated urine HVA, VMA
- Derived from what embryonic structure?
- Metastases most common in what bones?
Neuroblastoma
- -derived from neural crest cells
- -N-myc
- -usually adrenal or retroperitoneal
- -palpable, painful mass in flank or midline
- -calcification and hemorrhage on CT/Xray
- -metastases to skull, orbital bone
- -elevated urine HVA and VMA
NB: Wilms tumor arises from metanephros, which is precursor to renal parenchyma
–ataxia at less than 10 y.o.; loss of DTRs; extensor plantar reflex; weakness in hands and feet; explosive, dysarthric speech; hypertrophic cardiomyopathy
Dx?
Mode of Inheritance?
Friedrich Ataxia
–AR
Neuro
- -ataxia
- -loss of DTRs
- -extensor plantar reflex
- -dysarthria
Cardiovascular
- -hypertrophic cardiomyopathy
- -diabetes
MSK
- -scoliosis
- -hammer toes
–liver disease in a child with neurologic, behavioral, or psychiatric changes; Kayser-Fleischer rings; inborn error of copper metabolism
Tx: chelation with penicillamine
Dx?
Mode of Inheritance?
Screening test?
Wilson Disease
- -AR
- -decreased serum ceruloplasmin
Tay-Sachs Disease
- -normal development until 6m, then regress; seizures, hypotonia, blindness; cherry-red macula
- -accumulation of GM2
Enzyme deficiency?
Mode of Inheritance?
Tay-Sachs Disease
- -defiency of beta-hexosaminidase A
- -AR
Lesch-Nyhan Disease
–self-mutilation and dystonia; gouty arthritis; tophi; renal calculi
Mode of Inheritance?
Elevated levels of what marker?
Mutation in gene for what enzyme?
Lesch-Nyhan Disease
- -XLR
- -elevated uric acid
- -mut in gene for HPRT enzyme
Intracranial Pathology s/s
- Nocturnal symptom?
- Morning symptom?
Intracranial Pathology s/s
- -nocturnal h/a
- -morning vomiting
*Evaluate with CT, MRI
Dx and Tx: Seizures
- asynchronous tonic or clonic movements; 10-20s; no post-ictal period; EEG: spike and sharp waves or multifocal spikes
- LOC; automatisms; post-ictal state; EEG: sharp waves or focal spikes in temporal lobe; MRI: abnormality in temporal lobe
- aura with focal findings; LOC; tonic-clonic activity; post-ictal state
Partial Seizures
- Simple Partial Seizure
–no LOC; deja-vu; patient may remember
–asynchronous tonic or clonic movements; 10-20s
–no post-ictal period
–EEG: spike and sharp waves or multifocal spikes
Tx: phenytoin - Complex Partial Seizure
–LOC
–automatisms (lip smacking, chewing, etc.)
–post-ictal state
–EEG: sharp waves or focal spikes in temporal lobe; MRI: abnormality in temporal lobe
Tx: carbamazepine - Partial Seizure with Secondary Generalization
- -LOC
- -tonic-clonic activity
- -post-ictal state
Dx and Tx: Seizures
- sudden cessation of motor activity or speech with blank stare and flickering eyes; no aura; less than 30s; no postictal period; more common in girls; EEG: 3 Hz spike and wave activity
- aura may demonstrate focal onset; loss of consciousness; eyes roll black; tonic contractions, then clonic contractions; tongue biting; loss of bladder control; semi-comatose for up to 2 hrs after with vomiting and frontal headache
Dx? Tx? (4)
Generalized Seizures
- Absence (petit mal) Seizures
Tx: ethosuximide, (2nd line - valproic acid) - Tonic-Clonic Seizures
Tx: valproic acid, phenobarbital, phenytoin, carbamazepine
Seizure Pharmacology
- First line tx for simple partial seizures?
- First line tx for complex partial seizures? Can cause SJS/TEN
- First line tx for absence seizures?
Tx Options for Tonic-Clonic Seizures
4. unique sfx include gingival hypertrophy, hirsutism, rash, lymphadenopathy; SJS/TEN
- three other options for T-C seizures?
Seizure Pharmacology
- Phenytoin
- -simple partial seizures - Carbamazepine
- -complex partial seizures
- -SJS/TEN - Ethosuximide
- -absence seizures
Tonic-Clonic Seizures
- Phenytoin
- -gingival hypertrophy, hirsutism, rash, lympadenopathy; SJS/TEN - Valproic acid, Phenobarbitol, Carbamazepine
DDx: Pediatric Brain Tumor
- s/s: h/a, seizures, deteriorating school performance, new onset neuro abnormality, behavioral changes
1. s/s of brain tumor; endocrine syndrome; visual field defect; Xray shows calcification at sella turcica; derived from remnants of Rathke pouch
2. often in cerebellum; GFAP-positive; Rosenthal fibers (eosinophilic corkscrew fibers); cystic and solid components
3. midline cerebellar; highly malignant; compress 4th ventricle –> hydrocephalus; “drop metastases” to spinal cord’ Homer-Wright rosettes; small blue cells
4. found in 4th ventricle –> hydrocephalus; perivascular rosettes
5. unilateral visual disturbance; strabismus; associated with neurofibromatosis
DDx: pediatric brain tumor
- Craniopharyngioma
- supratentorial - Benign pilocytic astrocytoma
- Medulloblastoma
- Ependymoma
- Optic nerve glioma
Myoclonic Seizures
- -brief, symmetric muscle contraction and loss of body tone with falling forward
- -Tx?
Infantile Spasms
- -symmetric contractions of neck, trunk, extremities at 4-8m
- -due to increased CRH
- -EEG: hypsarrythmnia (asynchronous, chaotic bilateral spike and wave pattern)
- -Tx?
Myoclonic Seizures
–tx: valproic acid
Infantile Spasms
- -tx: ACTH
- -add prednisone if no response
Cerebral Palsy
- -uncoordinated motor dysfunction; rigidity and spasticity
- -seizures
- -abnormalities of speech, vision, intellect
- -equinovarus deformity: feet point down and in
RFs: prematurity, LBW, intrapartum infxn, maternal EtOH and tobacco use, placental pathology, multiple gestation
Tx for spasticity includes dantrolene and what two other drugs?
Cerebral Palsy
Spasticity tx: dantrolene, baclofen, botulinum toxin
Hematoma: epidural v subdural
Epidural
- -lens-shaped
- -lucid interval precedes rapid neurologic deterioration
- classically due to fracture of temporal bone with rupture of what vessel?
Subdural
- -crescent-shaped
- -progressive neurologic signs
- tearing of what vessels?
Epidural Hematoma
- -lens-shaped
- -lucid interval precedes rapid neurologic deterioration
- -fracture of temporal bone with rupture of middle meningeal artery
Subdural Hematoma
- -crescent-shaped
- -progressive neurologic signs
- -tearing of bridging veins
Neurocutaneous Syndromes
- -Neurofibromatosis Type 1
- -Neurofibromatosis Type 2
- -Tuberous Sclerosis
- -Sturge-Weber Syndrome
- Which two are inherited AD, but require a second sporadic mutation?
- Which one is inherited AD or sporadic?
- Which one is caused by a sporadic mutation?
Neurocutaneous Syndromes
AD + 2nd sporadic mutation
- -NF Type 1
- -NF Type 2
AD or sporadic
–Tuberous Sclerosis
Sporadic
–Sturge-Weber Syndrome
Sturge-Weber Syndrome
S (2) T Unilateral R G (2) E
What cutaneous finding present at birth?
What neurological findings can be associated with the unilateral distribution? (3)
What is another name for this syndrome?
Sturge-Weber Syndrome
S - port wine Stain, Sporadic mut T - Tram Track Ca2+ U - Unilateral R - Retardation G - Glaucoma, GNAQ E - Epilepsy
Port wine stain (CN V1-2 distribution) present at birth
Unilateral – hemianopia, hemiparesis, hemisensory disturbance
Encephalotrigeminal Angiomatosis
Neurofibromatosis Type 1 (von Recklinghausen)
- -cognitive defects
- -seizures
- -increased risk of malignancies
What skin finding?
What eye finding seen on slit-lamp?
What growths at skin, optic nerve, and adrenal gland?
Neurofibromatosis Type 1 (von Recklinghausen)
- -cognitive defects
- -seizures
- cafe au lait spots
- iris Lisch nodules (pigmented iris hamartomas)
- neurofibromas at skin
- optic glioma
- pheochromocytoma
- -increased risk of malignancies: Wilms tumor, leukemia, rhabdomyosarcoma
NB:
NF1 - chr 17 - neurofibromin
NF2 - chr 22 - merlin
What is the hallmark of NF Type 2?
Neurofibromatosis Type 2
- bilateral acoustic neuromas
- -hearing loss, facial weakness, headache, unsteady gait
NB:
NF1 - chr 17 - neurofibromin
NF2 - chr 22 - merlin
Tuberous Sclerosis
H - hamartomas A - angiofibromas M - re: heart? A - re: skin? R - re: heart? T - Tuberous Sclerosis O - autosomal dominant M - re: cognitive ability? A - re: kidney? S - re: neuro? re: skin?
Tuberous Sclerosis
Hamartomas (excessive growth of a tissue type native to organ of involvement)
Angiofibromas
Mitral regurgitation
Ash-leaf spots (hypopigmented area, increased with Wood UV lamp)
cardiac Rhabdomyoma
Tuberous sclerosis
autosomal dOminant
Mental retardation
renal Angiomyolipoma
Seizures
Shagreen patches (rough lesion with orange-peel consistency; lumbrosacral area)
Ascending flaccid paralysis 10 days after a nonspecific viral illness or infxn with Campylobacter, Mycoplasma pneumoniae
–paralysis may have bulbar involvement (dysphagia, respiratory insufficiency
Dx?
Labs - CSF
- -normal glucose; no cells
- -what level is elevated?
Tx?
Guillain-Barre Syndrome
–postinfectious polyneuropathy with ascending flaccid paralysis
Path: demyelination of peripheral nerves
CSF
- -normal glucose
- -no cells
- -elevated protein
Tx: IVIGs
Duchenne Muscular Dystrophy
MoI?
Labs
–what muscle enzyme marker is elevated?
Dx Tests
–biopsy for protein that is absent?
Tx
–what rx for heart failure?
Duchenne Muscular Dystrophy
MoI: XLR
Path: progressive degeneration of mm fibers
Features
- -Gower sign: getting up, slowly, step by step, from all fours
- -calf pseudohypertrophy
- -thigh mm wasting
- -scoliosis
- -cardiomyopathy
- -intellectual impairment
- -death around 18y from respiratory failure
Labs
–elevated CPK
Dx Tests
- -molecular genetic test for defective dystrophin
- -biopsy for absent dystrophin
Tx
–heart failure: digoxin
NB:
Becker’s Muscular Dystrophy
–milder form of DMD
–decreased dystrophin (but not absent)
DDx: intellectual disability
*physical exam findings
- microcephaly, small palpebral fissures, smooth philthrum, thin vermillion border
- flat facial profile, slanted palpebral fissures, small low-set ears, excessive skin at nape of neck, single transverse palmar crease, clinodactyly, large space between first two toes
- long narrow face, prominent forehead and chin, large ears, macrocephaly, macroorchidism
DDx: intellectual disability
*physical exam
- FAS
- -microcephaly, small palpebral fissures, smooth philthrum, thin vermillion border - Down Syndrome
- -flat facial profile, slanted palpebral fissures, small low-set ears, excessive skin at nape of neck, single transverse palmar crease, clinodactyly, large space between first two toes - Fragile X Syndrome
- -long narrow face, prominent forehead and chin, large ears, macrocephaly, macroorchidism
Dx?
Presentation
- -increasing head circumference
- -prominent occiput
- -cerebellar ataxia
- -delayed motor development
Pathology
–cystic expansion of 4th ventricle due to absence of roof
Associations
–agenesis of posterior cerebellar vermis and corpus callosum
Dandy-Walker Malformation
Presentation
–increasing head circumference, prominent occiput, cerebellar ataxia, delayed motor development
Pathology
–cystic expansion of 4th ventricle due to absence of roof
Assocations
–agenesis of posterior cerebellar vermis and corpus callosum
Myotonic Muscular Dystrophy
MoI?
Features
- -myotonia
- -frontal balding
- -cataracts
- -gonadal atrophy
Myotonic Muscular Dystrophy
MoI: AD
–CTG trinucleotide repeat in DMPK gene
Features
- -myotonia (slow mm relaxation, eg hand grip)
- -frontal balding
- -cataracts
- -gonadal atrophy
