NEUROLOGY SN Flashcards
In Sturge-Weber syndrome, where is the usual location of a Port-Wine stain?
Distribution of the first branch of the trigeminal nerve (ophthalmic branch)
What are the 3 clinical features of Sturge-Weber syndrome? -what is the classic finding on CT head of a patient with Sturge Weber who is coming in with focal seizures?
***Think vascular anomalies! 1. Port-Wine stain 2. Leptomeningeal vascular anomalies - can cause seizures and developmental delay 3. Glaucoma: secondary to ocular vascular anomalies -classic CT finding: intracranial calcification in railroad track/tram track appearance (leptomeningeal vascular anomalies of the cerebral cortex)
What is the classic presentation of a pediatric stroke?
Focal weakness of an extremity, often followed by a focal seizure since most strokes involve the MCA territory -Todd’s paresis: focal weakness occurs AFTER the seizure -Stroke: focal weakness occurs BEFORE the seizure
What is the definition of epilepsy?
Occurrence of 2 or more unprovoked seizures
By definition, how long can a Todd’s paresis last up until?
24 hours maximum
What is BECTS?
Benign Epilepsy of Childhood with Centrotemporal spikes aka Benign Rolandic Epilepsy
What test should be done in all patients with new onset focal seizures?
MRI - urgency will depend on presence of other red flags
In a patient presenting with their first unprovoked seizure, what are the chances of having another seizure in the future?
30%-40%
What are characteristic features of BECTS? (4) Common trigger? Treatment?
- Occur at night 2. Partial seizure with no loss of consciousness - however, in 1/3 of patients seizures will progress to secondary generalized 3. Unilateral sensorimotor involvement of the face: tongue, lip, gums, cheeks 4. Inability to speak: gurgling, grunting Common trigger: sleep deprivation Treatment: most do not require antiepileptic therapy since seizures are generally short lived and infrequent -If treating: can use carbamazepine or clobazam
What is the natural history of BECTs?
Usually resolve 2-4 years from onset. 95% outgrow by age of 15, 100% outgrow by age of 18
What is the most common idiopathic epilepsy syndrome in children?
BECTS
What is the peak onset of BECTS? More common in boys vs. girls?
8-9 years old More common in boys
Differentiate tics from stereotypies?
Tics:
- Symmetry & onset: asymmetric, occur when bored or distracted (not excited),
- Age: onset at 4-5 years old,
- Prognosis/pattern: worsen with time into different movements, semivoluntary
Stereotypies:
- Symmetry & onset: usually symmetric, occur when excited or happy,
- Prognosis/pattern: same movement over time
3 Ways to check for tremor on exam?
- pour water from one cup to another
- draw spirals on piece of paper
- touch their two index fingers together
What does Romberg check for? Pronator drift?
Romberg - propioception Pronator drift - UMN weakness
3 features of essential tremor?
2 conditions to rule out?
Essential tremor:
- Worsens with age
- Occurs with certain postures
- Does not occur at rest
Rule out:
hyperthyroidism and Wilson’s disease (ceruloplasmin)
What is holoprosencephaly?
Cause
Severity/associations:
Cause: Cephalic disorder in which the forebrain fails to develop into two hemispheres
Severity/associations:
- can be mild or severe (leads to fetal demise)
- midline defects can be seen (cleft palate, midline incisor, anosmia -cyclopsia is most severe form
What is the definition of status epilepticus?
Seizure > 30 minutes OR 2 or more seizures without return to baseline mental status
What are the clinical features of tuberous sclerosis? -mode of inheritance
Think ASHLEAF, (hamartomas in multiple organs)
Genetics: autosomal dominant of variable penetrance
A = ashleaf hypopigmented macule seen with Woods Lamp
S = shagrene patch (area of thick leathery skin)
H = heart rhabdomyoma
L = lung hamartoma, retinal hamartoma
E = Epilepsy from brain tubers /astrocytoma, infantile spasms
A = Angiomyolipoma of the kidney
F = Facial angiofibromas, periungual fibromas
Can also get
- periungual fibromas (major criteria),
- subependymal giant cell astrocytomas
- Infantile spasms may be the first recognized clinical manifestation of tuberous sclerosis (occur 6-12 mo, almost never occur > 12 mo) (65-70% of cases) -indicate poor neurodevelopmental outcome
Which conditions are associated with: -hypopigmented macules -hyperpigmented macules
Hypopigmented macules:
tuberous sclerosis
Hyperpigmented macules:
neurofibromatosis-1
What is the triad of clinical features seen in the Miller Fisher variant of Guillain Barre syndrome?
- Ophthalmoplegia 2. Ataxia 3. Arreflexia
What is the diagnostic criteria for neurofibromatosis type-1?
COLOR-NF Need 2/7 of the following:
Cafe au lait spots - minimum of 6:
- > 5 mm in prepuberty and
- > 15 mm in postpuberty
Optic glioma
Lisch nodules - hamartomas of the iris (almost never seen in children < 10 yo)
Osseous lesions - ie. sphenoid wing dysplasia, cortical thinning of long bones
Relative - first degree relative with NF-type 1
Neurofibromas - 1 plexiform or 2 simple neurofibromas Freckling of axilla/inguinal region
What is the pathophysiology of Guillain-Barre syndrome?
Timing of GBS?
How do you diagnose GBS?
Pathophysio: Postinfectious polyneuropathy due to antibodies attacking myelin sheath causing demyelination -
Timing: follows a nonspecific viral infection by 10 d -always
Nerves affected:
- motor nerves
- autonomic nerves (arrhythmia, hyper/hypotension, bowel or bladder dysfunction)
- sometimes sensory nerves -diagnosis:
Inv;
- CSF studies are essential
- MRI spinal cord to rule out other spinal cord lesions that may also cause paralysis,
- nerve conduction studies
- EMG
- stool samples for Campylobacter or H pylori
What do you see in CSF of a patient with guillain barre syndrome?
- Usually either completely normal or see isolated elevated proteins -NO pleocytosis
N.B. This is diagnostic of GBS since in any other cause like infection, if proteins go up, you would ALSO see a cellular response with pleocytosis


