Uworld Flashcards
What is cephalohematoma?
a subperiosteal hemorrhage limited to the surface of one cranial bone. There is no discoloration of overlying scalp and swelling is usu not visible until several hrs after birth. Most cases resolve within 2 wks to 3 months
Nieman pick vs Tay sachs
-both are AR d/os in ashkenazi jews with onset at 2-6 months
Nieman pick: sphingomyelinase deficiency
Tay Sachs: hexoaminidase A deficiency
Both have loss of motor milestones, hypotonia, feeding difficulties and cherry red macula.
Nieman Pick also has HEPATOSPLENOMEGALY and areflexia
Tay sachs: hyperreflexia
Krabbe disease
galactocerebrosidase deficiency –> AR lysosomal storage d/o with developmental regression, hypotonia and areflexia
Typical absence seizures
effect of hyperventilation on EEG
- brief (secs) of impaired consciousness
- may have automatisms (lip smacking, swallowing, picking movements of the hands)
- NO post-ictal state
- hyperventilation can cause 3 Hz spike and wave pattern on normal background
Atypical seizures last longer than typical seizures. What is its characteristic EEG pattern
slow spike and wake activity with freq
Glucose 6 phosphatase deficiency is called Von Gierkes disease. symptoms?
- hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia
- doll-like face (fat cheeks), thin extremities, short stature and a protuberant abdomen (due to enlarged liver and kidneys)
Retinal hemorrhages in infants are pathognomonic for
abusive head trauma causing tearing of subdural veins
evaluate with CT of head
Lesch nyhan sydrome is due to HGPRT def leading to symptoms of
self mutilation
neuro features like mental retardation, dystonia, choreatheotosis, spasticty
gouty arthritis
Complex partial seizures vs partial seizures vs partial seizures with generalization
ALL have olfactory aura
- partial seizures maintain consciousness
- complex vs with generalization both have LOC
- complex has motor automatisms (chewing, swallowing)
- generalization (tonic-clonic activity)
Fragile X Syndrome
- mutation in FMR1 gene –> increased # of CGG trinucleotide repeats 2/2 to aberrant methylation
- low to normal IQ, language disability, autism, large head, prominent jaw, large low set ears, maccroorchidism
NF type 1
- mutation on chromosome 17
- cafe au lait spots, multiple neurofibromas, lisch nodules (iris hamartomas)
infant with hydrocephalus may present with tense and bulging fontanelle, prominent scalp veins, widely spaced cranial sutures, rapidly increasing head circumference. What to do?
CT scan of brain
newborn with failure to thrive, bilateral cataracts, jaundice, hypoglycemia, vomiting, poor weight gain, convulsions
galactosemia caused by galactose-1-phosphate uridyl transferase deficiency
Classic triad of brain abscess?
fever
severe headaches
focal neurologic changes
(+ seizures)
neuroblastoma
most common extracranial solid tumor of childhood with median age of dx at 2 y.o. Tumors arise from neural crest cells (precursors to adrenal medulla and sympathetic chain). Feels firm, may see calcifications on imaging
Homocystinuria
AR d/o caused by cystathionine synthase deficiency leading to marfanoid body habitus, intellectual disability, downward lens dislocation, hypercoagulability. Fair har and eyes. Treatment: vitamin supplementation (Vit B6, folate, B12), and antiplatelet or anticoagulation to prevent thromboembolic events.
Cerebral palsy can be caused by prematurity (**leading factor), IUGR, intrauterine infection, antepartum hemorrhage, maternal alcohol or tobacco consumption. What are some findings
- spastic diplegia: hypertonia and hyperreflexia that involve predom the lower extremities with both feet pointing down and inward (equinovarus deformity)
- vision, hearing, speech disabilities
PKU
AR mutation in phenylalanine hydroxylase deficiency leading to severe intellectual disability, seizures, musty body odor, hypopigmentation of skin, hair, eyes. Diagnosed via newborn screening and/or quantitative amino acid analysis
Intraventricular hemorrhage is most commonly seen in premature and LBW infants. What are some signs
- pallor
- cyanosis
- hypotension
- seizures, focal neurologic signs
- bulging or tense fontanel
- apnea and bradycardia
follicular conjunctivitis and pannus (neovasculariation) formation in cornea, suspect?
chlamydia trachomatis A-C infection -major cause of blindness worldwide . Start topical tetracycline or oral azithromycin
Any male adolescent with epistaxis, a localized mass, and a bony erosion on back of nose has what until proven otherwise
angiofibroma
How to treat strabismus when theres one eye that is deviated inward with asymmetric corneal eye reflexes and red reflexes intensity
patch the normal eye
Why is the first 5 years of life critical to development of visual acuity
time needed for visual cortex maturation
What are the symptoms assoc with cerebellar tumors?
ipsilateral ataxia
nystagmus
intention tremors
loss of coordination
Initial imaging of choice in someone with unprovoked first seizure?
CT w/o contrast to exclude acute neuro problems like SAH that might require immediate intervention
How to differentiate myasthenia crisis vs MG cholinergic crisis?
tensilon test -administer edrophonium which will improve myasthenic crisis and worsen cholinergic crisis
What are meds that can cause idiopathic intracranial HTN (opening pressure > 250 mmHg)?
- isotretinoin (vit A)
- tetracyclines
- GH
Someone with rapidly progressive dementia and myoclonus, suspect?
CJD
- brain biopsy is gold std for diagnosis or PRNP gene mutations
- could see periodic sharp waves on EEG
- Positive 14-3-3 CSF assay
Spinal cord compression (UMN dysfunction distal to site of compression, weakness, hyperreflexia, extensor plantar response) is a medical emergency requiring prompt dx by
MRI of spine
Medial medullary syndrome
branch occlusion of vertebral artery or anterior spinal artery
c/l paralysis of arm and leg
tongue deviation toward the lesion
c/l loss of position sense
Most common site of hypertensive hemorrhages is the?
The putamen which is near the internal capsule leading to contralateral dense hemiparesis
Pontine hemorrhage is characterized by
- complete paraplegia
- deep coma
- pinpoint pupils but reactive to light
- decerebrate rigidity
What’s the most significant cause of morbidity in pts with TBI?
diffuse axonal injury, freq due to sudden accel-decel impact affecting gray white matter junction the most. CT will show minute punctuage hemorrhages with blurring of gray white matter. MRI is more sensitive though.
u/l foot drop is characterized by which gait? Common causes include?
Steppage gait: exaggerated hip and knee flexion while walking
common causes: L5 radiculopathy and compression peroneal neuropathy
to differentiate the 2 causes: L5 radiculopathy may also have weak foot inversion and plantar flexion while these will be normal in peroneal neuropathy
How to best assess for anterior cord syndrome?
MRI of spine
Elderly who suffer forced hyperextension type of injury to neck can have?
central cord syndrome -burning pain and paralysis in upper extremities with relative sparing of LE due to involvement of cortical spinal tracts. Spinothalamic tracts can be involved as well.
Hemiballismus
unilateral violent arm flinging caused by damage to the contralateral subthalamic nucleus
What happens to the cells when someone seizes for more than > 5 min?
Status epilepticus puts someone at increased risk of developing permanent injury due to excitatory cytotoxicity. Cortical laminar necrosis is the hallmark
Propranolol and primidone can be used to treat essential tremors. If a person with ET is given primidone and develops colicky abdominal pain, confusion, headaches, hallucinations and dizziness, what do you suspect?
Primidone is an anticonvulsant that can precipitate acute intermittent porphyria which manifests as abdominal pain, neurologic and psychiatric abnormalities. Check for urine porphobilinogen
A lesion in CN IV vs VI
CN IV lesion –> vertical diplopia, extorsion of eye
CNVI lesion –> horizontal diplopia, convergent strabismus
How to manage someone you suspect has endocarditis leading to cerebral emboli
- IV abxs
- TEE
- Observe
Dejerine-Roussy syndrome
thalamic stroke causing c/l hemianesthesia with transient hemiparesis, athetosis or ballistic movements. Dysesthesia of the area affected by the sensory loss is characteristic aka thalamic pain syndrome.
Most common site of ulnar nerve entrapment is
elbow where the ulnar nerve lies at the medial epicondylar groove
Cauda equina = hyporeflexia/areflexia wtih b/l severe radicular pain, saddle hypoanesthesia and assymetric motor weakness, late onset bladder/bowel probs. What abotu conus medullaris?
sudden onset of severe back pain with PERIANAL hypoanesthesia (vs saddle in cauda), symmetric muscle weakness, HYPERREFLEXIA, and early onset bowel and bladder probs
What physical exam test can detect aminoglycoside toxicity causing vestibular injury
abnormal head thrust test when you ask pt to look at a fixed target and rapid head movement away from target causes pt to lose target (in normal individual, can maintain target)
How to differentiate bleed from SAH and basal ganglia (deep intracranial) bleed
both can cause headache, nausea and vomiting
Intraparenchymal bleeds will more likely have focal neurologic deficits first and then worsen to include headache, N/v, decreased consciousness. SAH has abrupt onset of severe headache and focal neuro deficits are less common and typically do not precede the headache.
How to differentiate thalamic hemorrhage from other sites of intracranial hemorrage?
eyes will deviate TOWARDS side of hemiparesis while cerebral bleeds, eyes deviate away from hemiparesis
5 differential diagnoses of myopathy -glucocorticoid induced -polymyalgia rheumatica -inflammatory -statin-induced -hypothyroid characterise ESR and CK
- glucocorticoid induced: normal ESR and CK
- polymyalgia rheumatica: elevated ESR and normal CK
- inflammatory (polymyositis, dermato): elevated ESR and CK
- statin-induced: normal ESR, elevated CK
- hypothyroid: normal ESR, elevated CK
Ramsay hunt syndrome
form of herpes zoster infection that causes Bell’s palsy. Vesicles are typically seen on outer ear.
Dysarthria-clumsy hand syndrome is one of the lacunar syndromes. Explain symptoms and most likely cause
- uncontrolled HTN leads to lipohyalinotic thickening of the small vessels.
- lacunae are formed as a result of thrombotic occlusion of penetrating vesels
- in dysarthria-clumsy hand syndrome, the stroke is at the basis pontis
- usu small neuro findings like dysarthra and some mild hand weakness without any sensory findings
Otosclerosis
chronic conductive hearing loss
bony overgrowth of stapes
begins with low freq hearing loss
Malignant necrotizing otitis media is a severe infection of the external auditory canal usu caused by p. aeruginosa. How to treat?
IV ciprofloxacin
Loop diurectics that can cause reversible or permanent hearing loss and/or diuretic
furosemide
describe symptoms of acute angle closure glaucoma
- u/l orbitofrontal headache assoc with n/v
- u/l eye pain with conjunctival injection
- dilated pupil with poor light response
- untreated can have permanent vision loss
- can be caused by medications that induce dilation
First line treatment for acute glaucoma. What is gold standard for dx
iv mannitol
avoid atropine and other dilators
gold std for dx is gonioscopy; use tonometry if opthalmo consult is unavailable
Central retinal vein occlusion presents with painless monocular visual loss. What will fundoscopic results reveal?
-blood and thunder appearance consisting of optic disk swelling, retinal hemorrhages, dilated veins, cotton wool spots
Contact lens associated keratitis is mostcommonly caused by pseudomona and serratia. What to do if you suspect it
emergency bc can lead to corneal perforation, scarring, and permanent vision loss if not addressed prompt;y Will need to remove contacts and give topical abx.
Central retinal artery occlusion is most likely due to embolsim leading to painless loss of monocular vision. Fundoscopy may reveal ischemic retinal whitening and cherry red spots. How to treat? Typically assoc with amaurosis fugax but the latter stages causing visual acuity to be worse than 20/800
emergency
must treat with ocular massage and high-flow oxygen administration
Neurologic findings of cerebellar hemorrhage
usu no hemiparesis facial weakness ataxia nystagmus occipital headache neck stiffness
Macular degeneration affects peripheral or central vision? What is often used to screen for it?
central vision
The grid test which will be + when pts look at straight lines and see them as wavy
Open angle glaucoma is asymptomatic at first followed by gradual loss of peripheral vision over a period of years and eventual tunnel vision. What will you see on fundoscopic exam
cupping of optic disc with loss of peripheral vision
initial management with timolol.
HZV and VZV can cause severe acute retinal necrosis assoc with pain, keratitis, uveitis with peripheral pale lesions and central retinal necrosis on fundoscopy. What abotu CMV retinitis
painless, with hemorrhages and fluffy or granular lesions around retinal vessels on fundoscopy
What do you see in vitreous hemorrhage?
sudden loss of vision and onset of floaters. Most commonly caused by diabetic retinopathy. Fundus will be hard to visualize
Dacryostitis is
infection of lacrimal sac
treat with systemic abx therapy
someone with central scotoma, afferent pupillary defect, changes in color perception and decreased visual acuity, suspect
optic neuritis
dendriform ulcers are found in?
herpes zoster opthalmicus infection
What is the most common predisposing factor for orbital cellulitis (proptosis, opthalmoplegia, diplopia)?
Bacterial sinusitis
