MC Qs 2 Flashcards
Triad of findings in tuberous sclerosis
- Intellectual disability (MR)
- Seizures
- cortical tubers on MRI
- subependymal nodules/giant cell astrocytomas - Dermatologic findings
- ash leaf spots (hypomelanotic macules)
- Shagreen’s patch = elevated hardened skin patch usually on lower back
- angiofibromas in butterfly pattern on face
Other: renal, eye, lung findings
Differentiate classic from common migraine
Classic migraine = w/ aura
Common migraine = w/o aura
Name features of these specific types of migraines
(a) Basilar migraines
(b) Opthalmoplegic migraines
(a) Basilar migraine = symptoms referable to the basilar artery: visual disturbance, vertigo, confusion, brainstem dysfunction
(b) Opthalmoplegic migraines = associated w/ retroorbital pain or CN nerve palsies of CN 3,4,6
2 tests to help confirm Dx of myasthenia gravis
- Tensilon test = edrophonium = readily reversible AChE inhibitor that improves muscle weakness (by decreasing ACh breakdown)
- Ice pack test- putting ice pack on pt’s forehead for several minutes temporarily relieves ptosis
60 yo M develops asymmetric distal muscle weakness
- modestly elevated CK
- wheelchair bound after 7 yrs of gradual progression
Dx
Dx = inclusion body myositis
-over 50 yo, distal asymmetric inflammatory myopathy (see inflammatory infiltrate on biopsy)
No tx :-(
Distinguishing features of PSP vs. Parkinsons
PSP: restricted vertical gaze, prominent falls
Name 2 other types of chorea that are not Huntington’s
Chorea gravidarum- in women of child-bearing age get a pregnancy test!
Sydenham’s chorea in children w/ rheumatic fever (check group A strep titer)
Triggers for
(a) Absence seizures
(b) Juvenile myoclonic epilepsy seizures
Triggers
(a) Hyperventilation can reliably reproduce absence seizures
(b) Juvenile myoclonic epilepsy seizures can be triggered by sleep deprivation, classically a teenager who p/w seizure after pulling an all nighter
Pt w/ known brain tumor experiences shaking of right hand that progresses up to r. arm and shoulder that continuous until LOC and tonic-clonic mov’t of entire body
Type of seizure?
Secondary generalized seizure
Generalized b/c entire brain involved
Secondary b/c initially it’s focal, than spreads
(a) What is epilepsia partialis continua?
(b) Body parts most commonly involved
(c) Possible complication
(a) Epilepsia partialis continua = persistent focal motor seizure (repetitive focal myoclonus or Jacksonian march) that recur every few seconds to minutes for days to years
(b) Often hand, foot, or face
(c) Possibe complicated by Todd’s phenomenon where involved body part afterwards has transient weakness (conceptually due to exhaustion of motor cortex)
Differentiate chorea from athetosis
Chorea- irregular, asymmetric random and continuous movements
Athetosis- slow twisting/writhing movements, typically distal muscles
Differentiate ballism from chorea
Ballism is an extreme form of chorea, where there is involuntary, violent flailing of extremities
Chorea = irregular, asymmetric random and continuous movements
Before diagnosing pt w/ idiopathic carpel tunnel, what should be ruled out?
R/o pregnancy and endocrinopathies (diabetes, thyroid hormone irregularities)
Mov’t d/o in pt who survived CO poisoning
Parkinsonism
76 yo M started a new medication 2 mo ago, p/w muscle aches/pains and slightly elevated CK
What med?
Atorvastatin
Statins (esp high doses) are a very common cause of myopathies
Guillain-Barre
(a) Mechanism
(b) Clinical features
(c) Timeline
Guillain-Barre
(a) Autoimmune, often following GI illness (campylobacter jejuni classically)
(b) Ascending paralysis, minimal sensory findings, areflexia
- loss of reflexes is key to clinical dx
- back pain 2/2 inflammation of nerve roots
(c) Hours to days
Name 2 trinucleotide repeat diseases
- Huntington’s
2. Fragile X = most common inherited cause of ID, most commonly known single-gene of autism
Name 2 other features of Juvenile Gout (Lesch-Nyan)
Lesch-Nyan
- hyperuricemia => gout and kidney stones
- neurologic dysfunction
- cognitive and behavioral disturbances, most notably self mutilating behavior (biting lip and fingers, like even biting fingers off EW)
Differentiate myoclonus and dystonia
Myoclonus = very rapid, brief, uncontrollable jerks
Dystonia = sustained, abnormal posture caused by simultaneous activation of both agonist and antagonist muscles
Lennox-Gastaut Syndrome
(a) Age
(b) Difference btwn West syndrome
Lennox Gastaut Syndrome
(a) Btwn 2-6 yoa
(b) Many parallels, but L-G typically multiple types (not just infantile spasms) and more frequent (like can have multiple a day
- EEG findings: slow wave forms btwn seizures, not hypsarrhythmia like West syndrome
- L-G more resistant to tx
Main features of NF1
Tumors along the nervous system:
- Neurofibromas = benign skin tumors, peripheral neurofibromas causing painful neuropathies
- plexiform neurofibromas = large benign tumor of nerves
- Lisch nodules = brownish-red spots in the colored part of the eye
- cafe au lait spots, axillary freckling
- seizures, MR**
- thinning of long bones
Overall: seizures, cafe au lait spots, neurofibromas, plexiform neurofibromas
-often presents w/ seizures before age 5
Migraines
(a) Duration
(b) Dx criteria
Migraines
(a) 4-72 hrs duration
(b) 2/4:
-unilateral
-pulsatile quality
-inhibition of daily activity
-aggravated by physical activity
1/2:
-photo/phono-phobia
-nausea/vom
21 yo M wakes up in the night w/ stabbing pain behind eye, episodes last 30-60 mins during which eye looks is red/swollen w/ ptosis and unequal pupil size
Dx
Dx = cluster headaches
= severe unilateral pain (orbital, supraorbital, and/or temporal) lasting 15-80 minutes associated w/ eye, nose findings
- ptosis, miosis, red conjunctivae, lacrimation, eyelid edema
- nasal congestion/rhionrrhea
- forehead and facial sweating
Differentiate simple vs. complex febrile seizures
Simple febrile seizure = GTC lasting less than 60 seconds w/ no recurrence w/in the next 24 hrs
-these don’t need tx
Complex febrile seizure = focal features lasting longer than 15 minutes or recurrence in 24 hrs
-these need tx
5 yo child w/ severe decline in ability to comprehend and produce speech
(a) Dx
(b) EEG finding
(a) Landau-Kleffner syndrome = infantile acquired aphasia = acquired epileptic aphasia
= aphasia (inability to understand or express speech) w/ abnormal EEG
(b) EEG: b/l spike and wave discharges (epileptiform activity) during non-REM sleep
- basically a kid 3-7 yoa who develops speech normally but then loses it and also has epileptiform activity during non-REM sleep
- development of aphasia in child who otherwise developed normally
What lab value must be monitored in pts taking oxcarbazepine/carbamazepine
BMP- monitor Na+ values b/c they are associated w/ hyponatremia
Pt w/ b/l, asynchronous ballistic mov’t of arms and legs
-pt is conscious during the events that last 30-120 seconds
Dx
Dx = non-epleptic seizures = pseudoseizures
Differentiating factor = not stereotypic (like true epileptic seizures)- last different amounts of time, differ in time and clinical presentation
65 yo being treated for Parkinson’s develops paranoia and hallucinations
Mgmt
First step = reduce Sinemet (carbadopa-Levadopa) dose
But if his Parkinsonian symptoms worsen, then can restart Sinemet while adding antipsychotic
-best choice of antipscyhotic = Quetiapine (seroquel)
Similarities btwn Rett’s syndrome and autosim
Lack of social reciprocity, young age of onset, loss of speech
-but Rett’s has known molecular etiology
Define akathisia
‘Motor restlessness’
subjective sense of inner restless in which pt feels compelled to move continuously
Differentiate movement d/o from extrapyramidal d/o
Synonymous, b/c movement d/o don’t affect the pyramids (spare the corticospinal tract), they are disorders of the basal ganglia
What is the most common primary CNS tumor in children?
(a) What kind of tumor is this?
(b) Clinical presentation
Medulloblastoma
a) PNET = primary neuroectodermal tumor
(b) Presents w/ cerebellar features: ataxia, signs of increased ICP (HA, vom
75 yo w/ trouble initiating gait, but once he gets started his steps become faster until he has trouble stopping
(a) Name this gait
(b) Associated d/o
(a) Festinating gait
2/2 postural instability from loss of dopaminergic signals
(b) Idiopathic Parkinson’s
Duchenne’s muscular dystrophy
(a) Pattern of inheritance
(b) Mutated gene
(c) Clinical presentation
(d) Associated findings
Duchenne’s muscular dystrophy
(a) X-linked recessive- hence why only boys get it
(b) Mutated dystrophin gene- encodes for protein that connects muscle fiber’s cytoskeleton w/ the extracellular matrix to allow for contraction/relaxation
(c) Presents in boys around 3-5 w/ trouble walking, rising from sitting (Gower’s sign), unable to ambulate by teenage and death by 20s
(d) Dilated cardiomyopathy
2 yo girl seemed healthy until 11 mo when she seemed floppy, continued to develop but lost skills around age 2 particularly in her hands
Dx
Dx = Rett’s syndrome
- only in girls, starts around 1-4 yoa w/ cognitive and physical deficits/decline
- normal early development followed by stagnation and eventual regression
- grey matter disease
Define status epilepticus
Status epilepticus = life-threatening condition of seizures lasting more than 5-10 minutes, or recurrent seizures w/o regain of consciousness in between lasting 30 minutes
Name two examples of primary generalized seizures
Absence seizures, tonic-clonic seizures
7 yo boy w/ day-dreaming spells numerous times during the day
-child has no recollection of these events, his grades start to suffer
Dx
Dx = absence seizures
Distinguishing features of MSA-Parkinson’s type over Idiopathic Parkinson’s
MSA-Parkinson’s type: b/l onset of symptoms, lack of tremor, prominent orthostatic hypotension
Recall: hot cross buns sign on neuroimaging
Pt w/ known brain tumor experiences shaking of right hand that progresses up to right arm and shoulder before terminating.
-no LOC
Type of seizure?
Simple partial seizure
Simple b/c no LOC
Partial bc specific definitive (not entire) part of brain involved
Most common reason why pts discontinue Depakote
Wt gain