Marked Questions Board Vitals Flashcards
1
Q
Most common cause of chronic meningitis in the developed world, commonly presents with cranial nerve palsies, a history of pulmonary disease, and negative PPD.
A
Sarcoidosis. Incidence of neurosarcoidosis in patients with sarcoidosis: 5% show clinical manifestations, 25% of cases are diagnosed post-mortem.
2
Q
Mean age of onset for primary progressive multiple sclerosis
A
Age 40, about 10 years older than the age of onset of relapsing-remitting MS.
3
Q
Bilateral retinal hemorrhages and a subdural hematoma in an infant
A
Repetitive acceleration-deceleration forces such as with violent shaking which can rupture intracranial bridging veins
4
Q
the human vertebral column usually consists of _ articulating vertebrae and _ fused vertebrae
A
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.
5
Q
the most common inherited or developmental form of congenital facial palsy
A
CULLP. Congenital unilateral lower lip palsy.
6
Q
hypoplasia/absence of the depressor anguli oris or depressor labii inferioris muscles producing facial asymmetry with laughing or crying but otherwise intact facial function
A
CULLP. Congenital unilateral lower lip palsy. A minority of these patients may have cardiac defects and/or be on the 22q11 deletion syndrome spectrum.
7
Q
Primary mechanism of action Phencyclidine (PCP)
A
NMDA-receptor antagonist. Presents with violent behavior, nystagmus, tachycardia, hypertension, anesthesia, and analgesia. Can result in acute psychosis and seizures in children.
8
Q
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.
A
Gastaut-Geschwind Syndrome. Most often temporal lobe epilepsy on the left side of the brain.
9
Q
Inheritance pattern of familial amyotrophic lateral sclerosis.
A
Autosomal dominant. Accounts for 5-10% of cases while the rest are sporadic.
10
Q
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.
A
Heterotopic ossification. It is also commonly seen following total hip arthroplasty. Involvement of the muscle is known as myositis ossificans. Etiology unknown.
11
Q
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.
A
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.
12
Q
Disease resulting from a mutation in ATP7B gene.
A
Wilson’s Disease.
13
Q
Tumor type seen in patients with tuberous sclerosis. Arises within the ventricles and can present with obstructive hydrocephalus. WHO Grade 1 tumor.
A
Subependymal giant cell astrocytoma (SEGA).
14
Q
The only distinct variant of diffuse astrocytoma, IDH-mutant.
A
Gemistocytic astrocytoma.
15
Q
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.
A
Meningoencephalitis, most commonly a relapsing-remitting aseptic meningoencephalitis of the brainstem. 5-20% of patient’s with Behcet Disease will develop neurological manifestations.
16
Q
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.
A
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.
17
Q
The ____________ innervate the intrafusal muscle fibers of the muscle spindle.
A
y-motoneurons. These prevent the intrafusal muscle fibers from becoming slack and maintain Ia afferent activity during muscle contraction.
18
Q
The ____________ generate Ib afferents and prevent excessive force of contraction.
A
Golgi tendon organs.
19
Q
The __________ cause skeletal muscle contraction.
A
alpha motoneurons.
20
Q
The associated antibody in a patient with history of monoclonal gammopathy of unknown significance (MGUS) and distal, symmetric sensory neuropathy.
A
Anti-MAG. Antibodies against myelin associated glycoprotein.
21
Q
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.
A
Anti-Ma2.
22
Q
The associated antibody in a patient with history of small cell lung cancer or thymoma who presents with encephalitis, myelitis, or autonomic dysfunction.
A
Anti-Hu/ANNA1.
23
Q
Principal nerve which innervates the gluteus medius, minimus, and tensor fascia latae.
A
Superior gluteal nerve.
24
Q
Principal nerve which innervates the gluteus maximus.
A
Inferior gluteal nerve.
25
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.
26
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.
27
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.
28
FDA-approved treatments for Infantile Spasms (2)
1) ACTH
2) Vigabatrin
29
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
30
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
31
Deficient neurotransmitter in the CSF of most patients with narcolepsy
hypocretin, aka orexin, which is involved in the regulation of the sleep-wake cycle
32
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
33
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
34
Classic sleep changes with generalized anxiety disorder and insomnia.
1) longer sleep latency
2) increased frequency of awakenings
3) normal REM latency
35
Commonest causes of painless myopathy (drug-induced). (8) the ABCDs
corticosteroids, statins, colchicine, chloroquine, hydroxychloroquine, D-penicillamine, antibiotics, and beta-blockers.
36
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
37
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
38
Common inducers among anticonvulsants
phenytoin
carbamazepine
oxcarbazepine
phenobarbital
topiramate in doses >200mg daily
39
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.
40
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.
41
Medications to be avoided in electroconvulsive therapy (5).
theophylline, hypoglycemics, beta blockers, lidocaine, lithium
42
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.
43
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.
44
Telencephalon
cerebral hemispheres, limbic system, and basal ganglia
45
Diencephalon
thalamus, hypothalamus, optic vesicle
46
Mesencephalon
red nucleus, substantia nigra, and periaqueductal grey
47
Metencephalon
pons, cerebellum
48
Myelencephalon
medulla
49
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)
50
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.
51
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.
52
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).
53
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).
54
Structures which traverse the cavernous sinus (6)
Oculomotor nerve, trochlear nerve, ophthalmic nerve (V1) , abducens nerve, maxillary nerve (V2), internal carotid artery
55
Genetic cause of myotonic dystrophy type 1 and type 2 (2 different genes)
type 1 - DMPK gene
type 2 - CNBP gene
56
Hypersexuality, hyperorality, and hyperphagia, and due to a lesion of the amygdala
Kluver-Bucy syndrome
57
Most characteristic features of pleomorphic xanthoastrocytoma tumor (4)
intracellular reticulin deposition, foamy cytoplasm, eosinophilic granular bodies, Rosenthal fibers. Can be BRAF or CDKN2A/B (+).
58
Most common tumor producing a lesion at the jugular foramen resulting in CN IX - CN XI deficits.
Paraganglioma.
59
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.
60
Cancers of greatest association in patients with polymyositis (2).
Non-Hodgkin's lymphoma and lung cancer.
61
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.
62
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.
63
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
64
Teratogenic anticonvulsant which can result in cleft lip or palate and in males hypospadias.
Topiramate
65
A dilated superior ophthalmic vein by axial CT is concerning for _____
carotid cavernous fistula
66
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.
67
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.
68
Medications associated with restless leg syndrome. (8)
SSRIs, SNRIs, TCAs, lithium, antihistamines, antipsychotics, antiemetics, and dopamine antagonists
69
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.
70
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.
71
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).
72
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.
73
Pupillary dilation mediated by what receptors and what muscle contraction?
alpha1-adrenergic receptors leading to contraction of the radial muscle in the iris
74
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
75
Triad of Lennox-Gastaut syndrome
1) multiple seizure types
2) developmental delay
3) slow spike-and-wave discharges on EEG (< 3Hz)
76
The only TCA levels that can be reliably followed are (3)
1) desipramine
2) imipramine
3) nortriptyline
77
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
78
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.
79
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.
80
Anticonvulsants which can increase absence seizures (5)
carbamazepine, oxcarbazepine, vigabatrin, gabapentin, tiagabine
81
serotonin synthesis pathway (3)
conversion of L tryptophan to 5-hydroxytryptophan (rate-limiting step) which is then decarboxylated to serotonin.
82
Risk factors for cerebral venous sinus thrombosis (6).
OCP use (in conjunction with smoking), pregnancy, infection, head trauma, malignancy
83
Myotonic dystrophy type 2 inheritance pattern, type of repeat, number of repeats needed, and where and on what chromosome, resulting in accumulation of what
autosomal dominant; CCTG repeat; 75 or more repeats; intron of the zinc finger protein 9 gene; chromosome 3q; accumulation of expanded RNA transcripts
84
Hypopigmentation in a linear, patchy, or whorled design along the Blashko lines of the skin in an infant; disease due to what type of genetic phenomenon and cause; what is the resulting pathology; Harmful effects (6).
Hypomelanosis of Ito; somatic mosaicism due to mitotic errors after fertilization; some skin cells not able to produce melanin while others can; the daughter cells can migrate to extracutaneous sites commonly the CNS and MSK system; harmful effects include developmental delay; seizures, ocular abnormalities (aplasia, hypoplasia of iris, heterochromia iridis), deafness, hemihyperplasia, and scoliosis. Seizures are extremely common.
85
Anterolateral spinothalamic (ALS) tract location of cell body first, second, and third order neurons and where do they terminate.
first order cell body in the dorsal root ganglion, synapse in the ipsilateral dorsal horn (gray matter)
second order neurons located in dorsal horn, decussate at anterior white commissure and ascend in the ALS to terminate in ventral posterolateral thalamus (VPL)
third order cell body in the VPL, terminate in the sensory cortex, the postcentral gyrus
86
activation of this muscle causes external rotation of the shoulder, innervated by which nerve and where does the nerve originate
infraspinatus muscle; suprascapular nerve; upper trunk of the brachial plexus
87
Cocaine mechanism of action; what does it bind which normally does what, and what is the result of binding/inhibition
dopamine reuptake inhibitor; binds the dopamine transporter protein, which normally transports dopamine from the synaptic cleft back in to the presynaptic terminal. Inhibition of this protein leads to more dopamine in the synaptic cleft and increased signaling.
88
localize the lesion in a patient with hemiplegia and contralateral eye impaired adduction and upward movement with resultant diplopia
unilateral midbrain, Weber's syndrome, a combination of third nerve palsy and hemiplegia.
89
causative gene mutation for sturge weber syndrome; typical manifestations (6)
chromosome 9, GNAQ gene; craniofacial angiomas typically ipsilateral to the facial lesion, port wine stain, glaucoma, seizures, Todd's paralysis that can be long-lasting or permanent; can have tram tracking gyral calcifications
90
Myelination of the CNS is facilitated by ___; occurs as early as ___ weeks gestation however bulk myelination begins in ___ trimester and continues until __ postnatally. Optic nerve myelinate ___ whereas most other cranial nerves myelinate ____; certain subcortical fibers do not complete myelination until ____, especially in _____ cortex.
oligodendrocytes; occurs as early as 14 weeks gestation; bulk myelination begins 3rd trimester and goes until 2 years postnatally; optic nerves myelinate postnatally, whereas others myelinate prenatally; early adulthood in frontal cortex
91
A patient with refractory nausea and dizziness progressing in days to ataxia of all limbs, nystagmus, tremor, and dysarthria. What is this and underlying associated malignancies.
Paraneoplastic cerebellar degeneration (PCD); associated most often with small cell lung cancer, ovarian cancer, breast cancer, and Hodgkin's lymphoma.
92
3 determinants of risk for developing progressive multifocal leukoencephalopathy (JC virus infection) on natalizumab (3)
JC virus antibody positivity; length of treatment with natalizumab; prior immunosuppressant use.
93
Patients with partial visual seizures of occipital onset initially including visual hallucinations and transient blindness or scotomas. Later develops resting and action myoclonus with cognitive decline. Death within several years of onset. Name of disease, pattern of inheritance, mutated genes (2), which gene codes laforin and what is it; which gene encodes protein malin.
Lafora disease; autosomal recessive, mutations of EPM2A or NHLRC1 genes; EPM2A gene encodes laforin (tyrosine kinase inhibitor) and NHLRC1 gene encodes protein malin.
94
Name 5 progressive myoclonus epilepsies
Unverricht-Lundborg disease
MERRF
MELAS
Lafora disease
dentatorubral-pallidoluysian atrophy
95
Genetic cause of Unverricht lundborg disease
cystatin B gene (CSTB). it is the most common form of progressive myoclonus epilepsy
96
Affected types of nerve fibers in small fiber neuropathy (2) and what modalities are carried in them; What sensory modalities are affected in SFN and what modalities are preserved and why; electrodiagnostic testing results in small fiber neuropathy; positive and negative predictive values for skin biopsy (punch biopsy). Conditions associated with SFN (7). Treatments (4)
myelinated A-delta fibers and unmyelinated C fibers (both carry somatic sensory fibers and autonomic fibers). Diminished pinprick and temperature; preserved proprioception and vibration; large fibers; normal EMG/NCS results in SFN; >90% PPV and NPV; causes include diabetes, alcohol, sarcoidosis, HIV, hep C, Sjogren's, amyloidosis; treatments include amitriptyline, gabapentin, pregabalin, and carbamazepine
97
EMG/NCS findings of Lambert Eaton Syndrome (7)
reduced baseline CMAP amplitude
typically normal sensory amplitude
normal conduction velocity
normal distal latency
repetitive nerve stim at high frequencies (10-50 Hz) results in increased CMAP amplitude of >100%
10-second period of max isometric muscle contraction results in increased CMAP >100%
single fiber EMG shows jitter and transmission blocking which improves at higher firing rates
98
phenylketonuria inheritance pattern, which chromosome, deficiency of what enzyme and what does the enzyme normally do and needs what cofactor which if deficient may cause mild hyperphenylalanemia. what is the result of the enzyme deficiency chemically and what is the patient presentation
autosomal recessive; chromosome 12; deficiency of phenylalanine hydroxylase; enzyme converts phenylalanine to tyrosine with tetrahydrobiopterin as cofactor; if enzyme is deficient, results in transamination of phenylalanine to phenylpyruvic acid which is oxidized to phenylacetic acid.
presentation of 2-3 months of age, musty odor of skin and urine (attributable to the acid), intellectual disability, hyperactivity, irritability, tremor, and spasticity. dry hypopigmented skin, microcephaly, blond hair blue eyes.
99
imaging findings of phenylketonuria (4)
dysmyelination, failure of cortical lamination, heterotopias, and basal ganglia calcifications.
100
Treatment of phenylketonuria
phenylalanine restricted diet initiated immediately to limit intellectual disability. Lifelong restriction is recommended.
101
Triad of ataxia, telangiectasia, and frequent sinopulmonary infections in a child. Inheritance pattern, gene affected, chromosome, and what is the gene involved in (2).
Ataxia telangiectasia. autosomal recessive, gene ATM, chromosome 11; cell-cycle progression and DNA repair.
102
biomarkers in ataxia telangiectasia (5) together are 90% sensitive. which malignancies common (2) and findings on brain MRI (1)
AFP elevated
CEA elevated
IgG, IgA, IgE depressed - reflecting immunosuppressed state
lymphomas and leukemias
cerebellar atrophy
103
glycogen storage disease type V aka _____. deficiency of ______; inheritance pattern, mutations in what gene? clinical manifestations (4). episodic myoglobinuria and _____________ after exercise. EMG/NCS can reveal _________ in a muscle undergoing contracture.
McArdle's disease; myophosphorylase; autosomal recessive disorder; gene PYGM; poor exercise tolerance, fatigability, and exercise-induced muscle cramps and contractures; elevated creatinine kinase after exercise; electrical silence on EMG
104
reserpine mechanism of action, side effects (5)
blocks vesicular monoamine transporters, preventing uptake and reduces norepinephrine, dopamine, serotonin, and histamine in the synapses; hypotension, diarrhea, bradycardia, nasal congestion, erectile dysfunction
105
EEG finding in Creutzfeldt Jakob disease
periodic sharp-wave complexes
106
Percentage of family history of sleepwalking in patients with sleepwalking disorder
80%
107
EEG features by stage of sleep: stage 1 (2); stage 2 (2); stage 3 (1); REM (1)
stage 1 - alpha and theta waves on EEG; 5% total sleep time
stage 2 - sleep spindles and K complexes on EEG; 50% sleep time
stage 3 - delta waves on EEG; 10-20% sleep time; decreases as sleep progresses
REM - resembles wake time; 20-25% sleep time; increases as sleep progresses
108
Chordoma most common locations (3); imaging characteristics (4); histopathological characteristics (4); recurrence rate and response to chemo (2)
sacrococcygeal 50%; spheno-occipital 35%; spine 15%; imaging shows isointense T1, hyperintense T2, moderate-strong enhancement post T1, honeycomb appearance; histochemical (+) cytokeratin, (+) EMA (+) S-100 (+) vimentin; does not respond to chemo and has high recurrence rate
109
Chronic lead exposure in children is most commonly associated with
neuropsychiatric symptoms; in adults, motor neuropathy is most common
110
mechanism of action dantrolene
binds RYR1 receptor to inhibit the release of calcium from sarcoplasmic reticulum and reverses cascade of events in malignant hyperthermia
111
peripheral versus central vertigo (5)
central does not extinguish with repeated stimulation
central tends to be less severe
central has multidirectional nystagmus that does not improve with fixation
central not associated with hearing loss
peripheral extinguishes with repeat stimulation
112
Adrenoleukodystrophy inheritance pattern, gene involved; results in accumulation of what? Associated symptoms include (9).
X-linked recessive; ABCD1 gene; accumulation of VLCFA which primarily affect myelin in the brain and the adrenal glands (resulting in adrenal insufficiency); associated symptoms are vision loss, hearing loss, aphasia, paralysis, hyperactivity, seizures, muscle weakness, adrenal failure, and coma
113
An infant with progressive weakness and hypotonia who is unable to sit and developing difficulty swallowing.
Spinal muscular atrophy type 1. Dyspnea is also usually present at onset. Reflexes generally diminished or absent. SMA-2 usually presents later and in a child who is able to sit, but not stand or walk. It is a progressive neuromuscular disease caused by the degeneration of motor neurons in the spinal cord.
114
Which cranial nerve has the longest intracranial course?
Trochlear nerve
115
An obese patient who demonstrates a PaCO2 >45 during wakefulness.
Obesity-related hypoventilation syndrome.
116
A respiratory event is scored as a hypopnea if __________.
peak signal excursion drops by > or equal to 30% of baseline for > or equal to 2 breaths with accompanying arousal or > or equal to 3% drop in oxygen saturation.
117
Sleep-related hypoventilation is characterized by PaCO2 of ____ for ____ of total sleep time.
>50 mm Hg; >25%
118
Which SSRI/SNRIs can cause withdrawal symptoms from a single missed dose?
venlafaxine, paroxetine, and duloxetine; Short half lives.
119
What disease modifying treatment for multiple sclerosis is the safest to use in pregnancy?
Glatiramer Acetate; category B
120
Vertical gaze palsy, hepatomegaly/jaundice, Filipin test positive
Niemann-Pick C; due to inability to metabolic cholesterol and lipids which build up in liver, spleen, and brain.
121
Categorized as a neural sheath tumor predominantly seen in the frontal lobe at the grey/white junction. Frequently calcified with hemorrhagic or cystic components. Has a characteristic co-deletion.
Oligodendroglioma; 1p19q co-deletion.
122
Obesity syndrome which results from the absence of paternal gene expression on chromosome 15. Elevated ghrelin levels.
Prader Willi Syndrome
123
Which structure for what function:
thermoreceptors, sensing cold temperatures
tactile sensations
vibration
steady crude and mechanical pressure including shapes and edges
1. Krause endings
2. Meissner corpuscle
3. Pacinian corpuscle
4. Merkel disk
124
Alzheimer's disease is characterized by loss of cholinergic neurons in the _____.
Nucleus basalis of Meynert
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Tumor type which exclusively occurs in the posterior fossa and has potential for leptomeningeal spread. Can result in obstructive hydrocephalus. 90% enhance on T1 post and 15% have calcifications. Histological features? (2). Other tumors with the similar histological feature? (3)
Medulloblastoma. 1) small to medium sized cells with round nuclei and scant cytoplasm; 2) homer wright rosettes which are differentiated tumor cells that surround a central neuropil containing region. 3) HWRs can be seen in pineoblastoma, primitive neuroectodermal tumors, and olfactory neuroblastoma.
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Perivascular pseudorosettes
ependymomas. tumor cells surrounding a blood vessel
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verocay bodies
schwannomas
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psammoma bodies
meningioma
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flexner-wintersteiner rosettes
retinoblastomas. tumor cells surrounding a central lumen of cytoplasmic extensions
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Antibodies implicated in paraneoplastic cerebellar degeneration (5)
Hu - SCLC, Neuroendocrine tumors
Yo - Ovary, Breast
CV2 - SCLC, Thymoma
Tr - Hodgkin disease
Zic4 - SCLC
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How long to wait when stopping MAOI before starting an SSRI/SNRI?
two weeks
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often misdiagnosed as TMJ, this disorder characterized by increased, forced blinking and tongue/jaw contractions (oromandibular dystonia). Occasionally see involvement of other muscles of the body eg cervical dystonia.
Meige Syndrome; botox can help, but there is no cure.
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slowly progressive motor neuron disease including tongue and testicular atrophy and facial fasciculations.
Kennedy disease. CAG repeat disorder of the androgen receptor on X-chromosome which occurs in males. AKA spinobulbar muscular atrophy. Onset ages 20-60. Also seen is late onset gynecomastia, defective spermatogenesis, and a hormonal profile consistent with androgen resistance.
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Caused by urethral hypermobility, sphincter deficiency with symptoms of leakage when coughing/laughing. Associated with pressure injury (obesity/childbirth)
Stress Incontinence
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Caused by detrusor hyperactivity leading to increased urge to urinate; associated with neurological disorders and bladder anomalies.
Urge Incontinence
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Caused by impaired detrusor contractility leading to continuous urinary dribbling; associated with neurological disorders and peripheral neuropathy.
Overflow Incontinence
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Common neurological features of trisomy 21 (7)
intellectual disability
early Alzheimer's disease
skull malformations
atlantoaxial instability
psychiatric and behavioral disorders
hypotonia in infants
seizure disorders
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A child with multiple frontal lobe seizure types which occur around and during sleep.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) characterized by an ENFL1 gene mutation at chromosome 20q13. Affects CHRNA4, which codes for neural nicotinic acetylcholine receptor.
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Sciatic nerve is composed of two nerves _____. The ____division innervates the ____ (4) in the thigh. This branch then continues into posterior aspect of the leg to innervate _____ (3). The peroneal nerve divides into the ____ (2). The ___ innervates (2) which permits foot eversion. The ____ innervates (5) which permits foot dorsiflexion. The ____ permits foot inversion by innervation of the ____.
tibial nerve and common peroneal nerve; tibial nerve innervates adductor magnus, semimembranosus, semitendinosus, and long head of the biceps femoris; then innervates gastrocnemius, soleus, and tibialis posterior; The peroneal nerve divides into superficial and deep peroneal nerve; superficial innervates peroneus longus and brevis; deep peroneal innervates tibialis anterior, extensor hallucis, extensor digitorum longus/brevis, and peroneus tertius. tibial nerve to tibialis posterior muscle
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most common type of muscular dystrophy; inheritance pattern and what kind of cardiomyopathy associated; findings on EMG/NCS; mutation in what gene
duchenne muscular dystrophy; X linked; dilated cardiomyopathy that is rapidly progressive in age 20-40. EMG shows myopathy and usually not helpful.
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lithium associated with
acne
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symptoms of kluver bucy can be seen in what neurodegenerative disease
frontotemporal dementia
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Impaired HDL-mediated cholesterol efflux from macrophages and dysfunctional intracellular lipid trafficking. Features including orange tonsils, hepatosplenomegaly, premature CV disease, peripheral neuropathy with fluctuating numbness and muscle atrophy; and a progressive sensorimotor loss similar to syringomyelia.
Tangier syndrome; autosomal recessive due to mutations in gene coding ATP-binding cassette transporter A1 on chromosome 9. Chromosome 9 also shared with Sturge Weber GNAQ mutation.
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Type I fiber predominance (>55%) and atrophy with NADH-TR staining on muscle biopsy in child with hypotonia.
congenital fiber-type disproportion myopathy (CFTD). sporadic inheritance/can be AD or AR as well.
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Weakness of the pincer grasp and fist with weak thumb, index, and middle finger flexion; leading to inability to make the "OK" sign.
anterior interosseous nerve entrapment; a terminal branch of the median nerve supplying the pronator quadratus, flexor pollicis, longus, and flexor digitorum profundis of 2nd and 3rd digits.
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viral association with primary CNS lymphoma in a patient with HIV
Epstein Barr virus.
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Treatment of pseudobulbar affect
dextromethorphan/quinidine
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3 disease which show genetic anticipation (3)
Huntington's disease, Fredrich ataxia, and myotonic dystrophy
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Although sometimes appearing similar to Alzheimer's disease on FDG-PET scan, this feature may distinguish DLB from AD.
hypometabolism of the occipital lobes with preserved uptake of glucose in the posterior cingulate cortex yet adjacent hypometabolism in the precuneus and cuneus
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Worsening insomnia, impaired autonomic and motor functions, dementia, and death
fatal familial insomnia; a progressive prion disease
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Reported treatment options for Lance Adams Syndrome; post hypoxic myoclonus
clonazepam, valproate, zonisamide, levetiracetam, and piracetam
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involuntary synchronous spasms typically which begin around the eye before spreading to other muscles innervated by the facial nerve. The movements persist during sleep.
Hemifacial spasm. Typically unilateral and a tumor or vascular lesion is seen in 88-93% of cases.
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Autosomal dominant, late onset muscular dystrophy characterized by ocular and pharyngeal involvement. What is the trinucleotide repeat and which gene?
oculopharnygeal muscular dystrophy; GCN repeats in the PABPN1 gene.
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Biomarker seen in pathology of ALS
TDP-43
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Neurofibrillary tangles are composed of
hyperphosphorylated tau protein
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Itching is caused by
histamine excitation of unmyelinated C-fibers
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Familial amyloid polyneuropathy type 1 : ____________________
______________________________ : onset in the 4th or 5th decade featuring progressive distal pain & weakness/ CTS
Familial amyloid polyneuropathy type 3 : ____________________
______________________________ : results from abnormalities in gelsolin, seen with neuropathy and corneal lattis dystrophy and cutis laxa
type 1 and 2 are autosomal dominant; type 1 earlier onset and seen with autonomic dysfunction
type 3 results from abnormalities is apolipoprotein A1, seen with neuropathy, cardiomyopathy, nephropathy, and hepatopathy
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autosomal recessive disorder characterized by mutations in VPS13A gene, encoding _____. onset median age 35 yo. presents with chorea, seizures, areflexia, tics, oro-lingual facial dystonias, and distal muscle wasting. Some parkinsonism. Chorea is most prominent.
neuroacanthocytosis, specifically chorea-acanthocytosis. Abetalipoproteinemia is a neuroacanthocytosis characterized by low vitamin E and cholesterol.
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muscles of the larynx and pharynx receive innervation from what cranial nerve nuclei?
nucleus ambiguus
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which anticonvulsant mechanism of action selectively enhances slow inactivation of voltage-dependent sodium channels
lacosamide
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mechanism of action anticonvulsant of blocking sodium and calcium channels to decrease neuronal glutamate release
lamotrigine
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mechanism of action anticonvulsant binds synaptic protein SV2A and modifies GABA and glutamate release
levetiracetam
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mechanism of action anticonvulsant which enhances GABA receptor responses
phenobarbital
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mechanism of action anticonvulsant which blocks calcium channels
gabapentin; side effects include ataxia, dizziness, and somnolence
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garlic breath odor, gastrointestinal disorders, hair loss, sloughing of nails, fatigue, irritability, and neurological damage.
chronic selenium poisoning
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peripheral neuropathy, skin discoloration (pink cheeks, fingertips, and toes), edema, and desquamation
Chronic mercury poisoning
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Headaches, confusion, severe diarrhea, and drowsiness. Progresses to convulsions and changes in nail pigmentation including leukoparonychia (Mee's lines).
chronic arsenic poisoning
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A young male with symptoms of delusions, hallucinations, and disorganized speech lasting < 1 month; 3 months; >6 months
1) brief psychotic disorder ( <1 month)
2) schizophreniform disorder ( >1 month, <6 months)
3) schizophrenia ( >6 months)
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Most common risk factors for neural tube defects (6)
family history; obesity; diabetes; hyperthermia; use of anticonvulsants (valproate or carbamazepine); folate deficiency
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A CNS mass which has heterogenous enhancement and areas of calcification, but negative IDH and negative 1p/19q codeletion, and immunoreactive for synaptophysin.
central neurocytoma; appears similar to oligodendroglioma, but does not have the codeletion and is immunoreactive for synaptophysin.
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characteristic visual field defect of non arteritic ischemic optic neuropathy (NAION)?
altitudinal defect, in particular an inferior altitudinal defect
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Mutation in which chromosome strongly associated with narcolepsy-cataplexy
chromosome 6, 90-100% of patients with narcolepsy; also seen are chromosome 4 and 21 mutations
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Afferents from carotid body travel via CN __ to the nucleus solitarius; which sends interneuron activation to ______ wherein reside cell bodies of the _______.
CN IX; dorsal motor nucleus of X; preganglionic parasympathetic vagal neurons
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Preferred alcohol withdrawal syndrome preventive in patients with evidence of liver dysfunction on presentation
lorazepam; short acting and metabolism does not produce active compounds; diazepam and chlordiazepoxide are preferred in patients without evidence of liver dysfunction
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AD linked to 4 mutations of 4 different chromosomes, which are
PSEN2 - chromosome 1 - early onset
PSEN1 - chromosome 14 - early onset
ApoE - chromosome 19 - with older age
APP - chromosome 21 - early onset
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Presence of an IDH1 mutation in a glioblastoma implies:
the tumor progressed from a prior Grade II or III astrocytoma; IDH1 mutation is more favorable than wild-type and IDH1 + 1/19 co-deletion is the most favorable.
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Distal weakness and atrophy manifesting with foot drop and pes cavus; disease name and gene mutation
Charcot-Marie-Tooth 1A; PMP22 gene point mutation
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Young adult who develops lower extremity pain, impaired sensation (pain and temperature affected more than dorsal column modalities), and hypohidrosis.
Hereditary sensory and autonomic neuropathy type 1; autosomal dominant
HSAN2 - autosomal recessive; pain insensitivity mutilations; areflexia; retinitis pigmentosa
HSAN3 - autosomal recessive; severe autonomic dysfunction, storming;
HSAN4 - autosomal recessive; pain insensitivity - osteomyelitis and anhidrosis
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Moon-like facies, low set ears, a small jaw, orbital hypertelorism, microcephaly, mental retardation, hypotonia, low birth weight, and heart defects. Gene affected and chromosome.
Cri du chat; 5p monosomy; gene CTNND2 defect associated with particularly severe ID
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Patients who developed hypoventilation during REM sleep should be suspected of having
neuromuscular cause of respiratory weakness
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A patient with hemangioblastomas of the retina and CNS; slow growing - all children with cerebellar hemangioblastomas have this disorder, caused by mutation in endothelial growth factor.
Chromosome 3; Von Hippel Lindau Syndrome; Autosomal dominant; VHL gene; also at risk for pheochromocytoma, renal cell carcinoma
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indicated for MS treatment after failing two other DMTs; monoclonal antibody targeting CD52
Alemtuzumab; associated with risk of secondary autoimmune disease emergence
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hypernatremia in a patient with bipolar disorder on a mood stabilizer
nephrogenic diabetes insipidus; lithium competes with ADH receptors in the kidney and induces diuresis; amiloride can be used to attenuate water loss
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3 minor nerves of the lumbar plexus and root originations
iliohypogastric nerve T12-L1
ilioinguinal nerve T12-L1
genitofemoral nerve T12-L2
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3 major nerves derived from the lumbar plexus and root originations
lateral femoral cutaneous nerve L2-L3
femoral nerve, arising from posterior div of anterior rami of L2-L4
obturator nerve, arising from anterior div of anterior rami of L2-L4
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6 major nerves of the sacral plexus and root originations
tibial nerve; anterior div of anterior rami of L5-S2
common peroneal nerve; posterior div of anterior rami of L4-S2
superior gluteal nerve L4-S1
inferior gluteal nerve; L5-S2
posterior cutaneous nerve of the thigh; S1-S3
pudendal nerve; S2-S4
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Hypotonic infant with progressive weakness and eventual dependence on mechanical ventilation by age 2. Two genes typically affected; inheritance pattern; chromosome affected
Spinal muscular atrophy type 1 (Werdnig Hoffman Disease); autosomal recessive; chromosome 5; SMN1/SMN2 genes affected
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side effects of this anticonvulsant include ataxia, diplopia, headaches, nausea and works by blocking voltage gated sodium channels in the brain ultimately decreasing release of glutamate
carbamazepine
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Effect of hydroxyamphetamine on patient with horner's syndrome; effect of apraclondine; effect of cocaine
hydroxyamphetamine stimulates release of norephinephrine from third order neurons, helpful for localizing
cocaine blocks reuptake of norepinephrine, helpful for confirming but not localizing
apraclonidine acts at post synaptic receptors as a weak adrenergic agonist; helpful for confirming but not localizing
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skin lesion associated with Fabry disease
angiokeratomas
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lafora bodies consist of what substance which tells about the metabolic dysfunction in the disease
polyglucosans
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neurodegenerative disorder characterized by build up of calcium in the basal ganglia resulting in various symptoms including ataxia, rigidity/parkinsonism, dystonia, chorea, and also cognitive impairment. inheritance pattern of familial form?
primary familial brain calcification (Fahr Disease); autosomal dominant in familial form; various genetic causes
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Muscular dystrophy (hypotonia) with cerebral and eye malformations; severe retinal abnormalities and cobblestone lissencephaly is common. Death in 2 years. name of disease; inheritance pattern, and chromosome affected
Walker-Warburg syndrome; autosomal recessive; chromosome 9;
Muscle-eye-brain disease is similar and presents with hypotonia, but far less severe cerebral and retinal abnormalities on chromosome 1.
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primary management of myasthenia gravis in pregnancy
pyridostigmine; prednisone if beyond first trimester but category C and can cause cleft palate and induce PROM later if high doses
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Juvenile angiofibroma
Originates in sphenopalatine foramen
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Anterior hypothalamus
Regulates body temperature; initiates reflexes including vasodilation and sweating; works to decrease body temperature
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Posterior hypothalamus
Heat-producing reflexes including shivering and vasoconstriction
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Painful shoulder girdle weakness in multiple muscles associated with viral infection
Parsonage Turner Syndrome
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globoid cells; demyelination sparing U-fibers; opisthotonic posture; blindness; galactocerebrosidase deficiency
Krabbe disease
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beta galactosidase deficiency; cherry red spot; coarse facial features
GM1 gangliosidosis
