Marked Questions Board Vitals Flashcards
Most common cause of chronic meningitis in the developed world, commonly presents with cranial nerve palsies, a history of pulmonary disease, and negative PPD.
Sarcoidosis. Incidence of neurosarcoidosis in patients with sarcoidosis: 5% show clinical manifestations, 25% of cases are diagnosed post-mortem.
Mean age of onset for primary progressive multiple sclerosis
Age 40, about 10 years older than the age of onset of relapsing-remitting MS.
Bilateral retinal hemorrhages and a subdural hematoma in an infant
Repetitive acceleration-deceleration forces such as with violent shaking which can rupture intracranial bridging veins
the human vertebral column usually consists of _ articulating vertebrae and _ fused vertebrae
24 articulating vertebrae and 9 fused vertebrae. Of the 9 fused vertebrae, 5 are fused to form the sacrum, and 4 are fused to form the coccyx/tailbone.
the most common inherited or developmental form of congenital facial palsy
CULLP. Congenital unilateral lower lip palsy.
hypoplasia/absence of the depressor anguli oris or depressor labii inferioris muscles producing facial asymmetry with laughing or crying but otherwise intact facial function
CULLP. Congenital unilateral lower lip palsy. A minority of these patients may have cardiac defects and/or be on the 22q11 deletion syndrome spectrum.
Primary mechanism of action Phencyclidine (PCP)
NMDA-receptor antagonist. Presents with violent behavior, nystagmus, tachycardia, hypertension, anesthesia, and analgesia. Can result in acute psychosis and seizures in children.
A patient with epilepsy who also manifests hyperreligiosity, circumstantiality, hypergraphia, hyposexuality, and intense emotional responses. Her seizures are focal with impaired awareness (complex partial seizures). Syndrome.
Gastaut-Geschwind Syndrome. Most often temporal lobe epilepsy on the left side of the brain.
Inheritance pattern of familial amyotrophic lateral sclerosis.
Autosomal dominant. Accounts for 5-10% of cases while the rest are sporadic.
As complication of spinal cord injury, a patient experiences progressive loss of range of motion of the hip accompanied by redness, warmth, and swelling around the joint.
Heterotopic ossification. It is also commonly seen following total hip arthroplasty. Involvement of the muscle is known as myositis ossificans. Etiology unknown.
CNS tumor type which arises from the radial glial cells in the subventricular zone. Most commonly seen in the posterior fossa, in contact with the fourth ventricle, or in the intramedullary spinal cord.
Ependymoma. Associated with Neurofibromatosis type 2 (NF-2). Associated tumors in this syndrome include meningiomas and schwannomas. Mneumonic for NF-2 tumors is MISME (Multiple Inherited Schwannoma Meningioma Ependymoma). Chromosome 22. Autosomal Dominant.
Disease resulting from a mutation in ATP7B gene.
Wilson’s Disease.
Tumor type seen in patients with tuberous sclerosis. Arises within the ventricles and can present with obstructive hydrocephalus. WHO Grade 1 tumor.
Subependymal giant cell astrocytoma (SEGA).
The only distinct variant of diffuse astrocytoma, IDH-mutant.
Gemistocytic astrocytoma.
Most common and severe neurological manifestation of a patient with recurrent oral and genital ulcers, a history of uveitis, and erythema nodosum-like lesions of the legs.
Meningoencephalitis, most commonly a relapsing-remitting aseptic meningoencephalitis of the brainstem. 5-20% of patient’s with Behcet Disease will develop neurological manifestations.
Myopathy which results from mutation in gene coding for dysferlin on chromosome 2p. These mutations are also associated with limb-girdle muscular dystrophy type 2B.
Miyoshi myopathy. Autosomal recessive. Presents with distal weakness and atrophy beginning in the medial gastrocnemius and adductor magnus. Creatinine kinase levels often 20-150x normal. Biopsy shows dystrophic changes.
The ____________ innervate the intrafusal muscle fibers of the muscle spindle.
y-motoneurons. These prevent the intrafusal muscle fibers from becoming slack and maintain Ia afferent activity during muscle contraction.
The ____________ generate Ib afferents and prevent excessive force of contraction.
Golgi tendon organs.
The __________ cause skeletal muscle contraction.
alpha motoneurons.
The associated antibody in a patient with history of monoclonal gammopathy of unknown significance (MGUS) and distal, symmetric sensory neuropathy.
Anti-MAG. Antibodies against myelin associated glycoprotein.
The associated antibody in a patient with history of germ cell tumor of the testes, or lung, or breast, or non Hodgkin lymphoma who develops a brainstem encephalitis.
Anti-Ma2.
The associated antibody in a patient with history of small cell lung cancer or thymoma who presents with encephalitis, myelitis, or autonomic dysfunction.
Anti-Hu/ANNA1.
Principal nerve which innervates the gluteus medius, minimus, and tensor fascia latae.
Superior gluteal nerve.
Principal nerve which innervates the gluteus maximus.
Inferior gluteal nerve.
Principal nerve innervating tibialis anterior, extensor hallucis, peroneus tertius, extensor digitorum brevis, and extensor digitorum longus. Lesion of this nerve results in foot drop and difficulty with great toe extension.
Deep peroneal nerve.
Principal nerve which innervates peroneus longus and peroneus brevis. Lesions of this nerve result in difficulty with foot eversion. Also carries most sensory afferents from the dorsum of the foot.
Superficial peroneal nerve.
A trinucleotide repeat disorder of CTG repeats as a mutation in DMPK on chromosome 19. Clinical manifestations include weakness with muscle wasting and myotonia. Typical syndromic facial appearance includes a long, mournful face with ptosis and slack mouth due to weakness.
Myotonic Dystrophy Type 1. Associated systemic abnormalities include cardiac conduction abnormalities, disturbed sleep due to depression of respiratory drive, Christmas tree cataracts, testicular atrophy, impaired glucose tolerance, and other endocrine abnormalities, and gallbladder disease.
FDA-approved treatments for Infantile Spasms (2)
1) ACTH
2) Vigabatrin
Diagnostic criteria for tuberous sclerosis (3) and other non-CNS manifestations (3).
1) cortical tubers
2) subependymal nodules
3) subependymal giant cell astrocytoma (SEGA) which is a WHO Grade I tumor. Can be TSC1/TSC2 (+).
1) retinal hamartomas
2) cardiac rhabdomyomas
3) renal angiomyolipomas
Root origin of the spinal accessory nerve, which skull exit, targets of innervation and resultant exam findings with isolated injury.
1) C1-C4 and medullary branchial motor fibers
2) jugular foramen
3) sternocleidomastoid (SCM) and trapezius
4) depression of the ipsilateral shoulder and weakness in ipsilateral arm abduction, and weakness in contralateral head turning
Deficient neurotransmitter in the CSF of most patients with narcolepsy
hypocretin, aka orexin, which is involved in the regulation of the sleep-wake cycle
Origin of the branchial motor fibers of the glossopharyngeal nerve, where CN 9 leaves the skull (and with what two other nerves) and targets of the branchial motor innervation from CN9
1) nucleus ambiguus
2) jugular foramen along with the vagus nerve and spinal accessory nerve
3) innervates the stylopharyngeus muscle which provides voluntary elevation of the palate
Classic sleep changes due to major depression on polysomnogram.
1) prolonged sleep latency
2) increase wake time after sleep onset
3) increased early morning awakenings
4) decreased total sleep time
5) decreased slow-wave sleep (SWS)
6) decreased SWS as a percentage of total sleep time
7) reduced REM latency
8) prolongation of first REM sleep period
9) increased REM activity
10) increased REM sleep as a percentage of total sleep time
Classic sleep changes with generalized anxiety disorder and insomnia.
1) longer sleep latency
2) increased frequency of awakenings
3) normal REM latency
Commonest causes of painless myopathy (drug-induced). (8) the ABCDs
corticosteroids, statins, colchicine, chloroquine, hydroxychloroquine, D-penicillamine, antibiotics, and beta-blockers.
Carbamazepine mechanism of action, FDA approved diseases (3), metabolism, effect on metabolism, effect on oral contraceptives, when to screen for HLA-B*1502 and why, rare side effects.
1) sodium channel antagonist
2) bipolar disorder, seizures, and trigeminal neuralgia
3) metabolized by liver CYP 450 3A4 enzyme
4) inducer of CYP 450 3A4
5) lowers serum levels of oral contraceptives
6) screen in patients of Asian descent because this allele increases risk of SJS, if positive, avoid use
7) hyponatremia, SIADH, toxic epidermal necrolysis, and SJS, agranulocytosis, aplastic anemia
Aicardi syndrome triad, pattern of inheritance and why are all patients female
1) infantile spasms, agenesis of the corpus callosum, and retinal malformations
2) X-linked dominant disorder with hemizygous lethality in males
Common inducers among anticonvulsants
phenytoin
carbamazepine
oxcarbazepine
phenobarbital
topiramate in doses >200mg daily
EMG findings for Inclusion Body Myositis
Affects the quadriceps, tibialis anterior,, and wrist and finger flexors. Dysphagia seen in 33-50% of cases. EMG shows increased insertional activity, fibrillations, positive waves, and early recruitment of polyphasic motor unit action potentials (MUAPs) of short duration and low amplitude without fasciculations.
Auditory pathway (8) total structures to know.
Inner and outer hair cells of the cochlea to the cochlear nuclei via the cochlear nerve. There are ventral and dorsal cochlear nuclei representing different tonotonic maps. From the cochlear nuclei, projections travel via acoustic stria to the superior olivary complex (SOC) and inferior colliculus. The SOC lastly sends fibers to the lateral lemniscus, inferior colliculus, and auditory cortex, where interconnected fibers evidence the complexity of auditory processing.
Medications to be avoided in electroconvulsive therapy (5).
theophylline, hypoglycemics, beta blockers, lidocaine, lithium
An infant with hypotonia and frequent vomiting with brittle hair and nodules along the hair shaft. Elevated serum citrulline and argininosuccinic acid, decreased serum arginine, and elevated urine orotic acid.
Argininosuccinate lyase deficiency. This enzyme forms arginine and fumarate from argininosuccinate in the urea cycle. Like other urea cycle disorders, symptoms include vomiting, lethargy, hypotonia, seizures, coma, and respiratory failure. The characteristic feature of argininosuccinate lyase deficiency is trichorrhexis nodosa (brittle hair with nodules along the hair shaft). Inheritance pattern: autosomal recessive on chromosome 7.
Examination notable for positive Tinel test at elbow, weakness of pincer grip, positive Froment sign, wasting of the intrinsic hand muscles, positive Wartenberg’s sign, and NCS findings of reduction in CMAP amplitude of more than 50% with stimulation above or at the elbow compared to the wrist.
Ulnar neuropathy at the elbow or proximal to the elbow.
Tinel test - tapping the ulnar nerve where is passes between the heads of the flexor carpi ulnaris
Froment sign - thumb flexion at the distal joint when the pincer grip is attempted
Wartenberg sign - fifth digit abduction at rest due to paralysis of the third palmar interossei with unopposed action of the extensor digiti minimi and extensor digitorum communis.
Telencephalon
cerebral hemispheres, limbic system, and basal ganglia
Diencephalon
thalamus, hypothalamus, optic vesicle
Mesencephalon
red nucleus, substantia nigra, and periaqueductal grey
Metencephalon
pons, cerebellum
Myelencephalon
medulla
antipsychotic medication to avoid when treating patients with Lewy Body Dementia
Haloperidol, due to D2 antagonist effects at dopamine receptors. Use can result in paralysis and other severe movement disorders (dystonia, akathisia, rigidity, bradykinesia)
Symptoms of headache, blurred vision, anxiety, apathy, decreased concentration, and impairments in memory in a boxer.
Postconcussion Syndrome. Results from head trauma. Usually resolves within 30 days, but 15% patients have symptoms lasting to one year. Risk factors for persistent PCS include female gender, age >40, history of alcohol use, prior head injury, and significant comorbid medical or psychiatric illness.
Resting tremor and rigidity resolved with a dose of levodopa, localize the lesion.
Destruction of the dopamine-secreting neurons within the substantia nigra pars compacta. Parkinson’s Disease.
Stocking-glove sensorimotor neuropathy, diffuse hyperpigmentation, and Mees’ lines in the fingernails in a coal miner.
Arsenic poisoning. Mees’ lines are transverse white bands across the width of the nail seen with heavy metal poisonings or with renal failure. Treatment is by chelation with dimercaprol or dimercaptosuccinic acid (DMSA).
the most common genetic association with frontotemporal lobe dementia (FTD)
C9ORF72 gene. Implicated in 12-25% of familial cases. Also represents the most common genetic cause of familial amyotrophic lateral sclerosis (ALS).
Structures which traverse the cavernous sinus (6)
Oculomotor nerve, trochlear nerve, ophthalmic nerve (V1) , abducens nerve, maxillary nerve (V2), internal carotid artery
Genetic cause of myotonic dystrophy type 1 and type 2 (2 different genes)
type 1 - DMPK gene
type 2 - CNBP gene
Hypersexuality, hyperorality, and hyperphagia, and due to a lesion of the amygdala
Kluver-Bucy syndrome
Most characteristic features of pleomorphic xanthoastrocytoma tumor (4)
intracellular reticulin deposition, foamy cytoplasm, eosinophilic granular bodies, Rosenthal fibers. Can be BRAF or CDKN2A/B (+).
Most common tumor producing a lesion at the jugular foramen resulting in CN IX - CN XI deficits.
Paraganglioma.
Mainstay of treatment for a child under 10 with absence epilepsy.
Ethosuximide. Valproic acid is the alternative, but not recommended for use in children <10 years old.
Cancers of greatest association in patients with polymyositis (2).
Non-Hodgkin’s lymphoma and lung cancer.
Most common cognitive adverse effect of electroconvulsive therapy.
Anterograde amnesia (inability to form new memories) which usually lasts 1 day and is transient. Retrograde amnesia (loss of remote memories) is more rare, but is the most persistent.
In an adolescent, progressive diffuse weakness, early contractures of the hip, knee, and ankle, intellectual disability, seizures, skull asymmetry, and cerebral malformations. Typically die in early childhood. Inheritance pattern and chromosome where the gene for fukutin is affected.
Fukuyama type congenital muscular dystrophy. Autosomal recessive. Chromosome 9. alpha-dystroglycan is absent on histochemical staining.
Sleep disorder which can be viewed as a prodromal symptom of alpha-synucleinopathy
REM sleep behavior disorder. 33-50% PD; 80-95% MSA; and 80% dementia with Lewy bodies
Teratogenic anticonvulsant which can result in cleft lip or palate and in males hypospadias.
Topiramate
A dilated superior ophthalmic vein by axial CT is concerning for _____
carotid cavernous fistula
In addition to causing familial hemiplegic migraine (FHM), defect at this gene on this chromosome also can cause episodic ataxia type 2, spinocerebellar ataxia type 6, and childhood absence epilepsy. What is inheritance pattern for FHM?
CACNA1A gene on chromosome 19. Autosomal dominant.
In addition to causing familial hemiplegic migraine (FHM), defect at this gene on this chromosome also can cause episodic ataxia type 2, spinocerebellar ataxia type 6, and childhood absence epilepsy. What is inheritance pattern for FHM?
CACNA1A gene on chromosome 19. Autosomal dominant. This chromosome also implicated in ApoE4 risk for AD and CADASIL at notch 3 gene.
Medications associated with restless leg syndrome. (8)
SSRIs, SNRIs, TCAs, lithium, antihistamines, antipsychotics, antiemetics, and dopamine antagonists
Non-REM sleep arousal disorders (sleepwalking, night terrors), REM sleep behavior disorder, and nightmare disorder are known as ____ in the DSMV.
Parasomnias. Breathing-related sleep disorder is a dyssomnia.
Acute hypernatremia causes a rapid increase in blood volume due to osmosis, which can ____
Rupture cerebral veins and lead to an intracerebral hemorrhage. Acute hypernatremia can also cause demyelination.
Elderly male with exertional bilateral leg pain involving the thighs, calves, and buttocks, which is relieved by sitting or lying down and while shopping for groceries he must lean over the cart to complete the trip.
Neurogenic claudication/ Lumbar spinal canal stenosis. Caused by central canal stenosis below the level of the lumbar spine (below the ending of the spinal cord).
The muscle which changes the shape of the lens when focusing on an object. Contraction of this muscle mediated by what receptors? Relaxation mediated by what receptors?
Ciliary muscle, contained by the ciliary body; contraction mediated by M3 cholinergic muscarinic receptors; relaxation mediated by B2-adrenergic receptors.
Pupillary dilation mediated by what receptors and what muscle contraction?
alpha1-adrenergic receptors leading to contraction of the radial muscle in the iris
Pupillary constriction mediated by what receptors and as a result of what muscle contraction?
Mediated by M3 cholinergic muscarinic receptors and due to contraction of circular muscle
Triad of Lennox-Gastaut syndrome
1) multiple seizure types
2) developmental delay
3) slow spike-and-wave discharges on EEG (< 3Hz)
The only TCA levels that can be reliably followed are (3)
1) desipramine
2) imipramine
3) nortriptyline
Histological features of meningioma (3), the cell line of origin, and the findings associated with olfactory groove meningiomas
1) meningothelial whorls
2) psammoma bodies
3) calcification
Arachnoid cap cells
Foster-Kennedy Syndrome, which is ipsilateral optic atrophy and contralateral papilledema
This nerve provides sensory innervation to the dorsal first web space of the foot
Deep peroneal nerve. The common peroneal nerve provides sensory innervation to the upper lateral lower leg and the superficial peroneal nerve provides sensory innervation to the lower lateral lower leg and the dorsal medial foot with the exception of the dorsal first web space which is innervated by the deep peroneal nerve.
A patient with obstructive sleep apnea has a deviated septum, a small retroglossal space, 2+ tonsils, and a retrognathic mandible. What surgery will improve compliance with CPAP?
Septoplasty. Opens nasal airway and decreases the required pressure of the CPAP. Nasal surgery is superior to oropharyngeal surgery, tongue reduction, and geniohyoid suspension for improving compliance with CPAP.
Anticonvulsants which can increase absence seizures (5)
carbamazepine, oxcarbazepine, vigabatrin, gabapentin, tiagabine
