Neuro Flashcards
What are the 2 causes of floppy baby syndrome?
Infant botulism - canned food, honey
Werdnig-Hoffman syndrome - degeneration of anterior horn cells and CN motor nuclei
Fragile X signs
Long face, prominent forehead and chin
Large, protruding ears
Macrocephaly
Joint hypermobility (fingers, wrists)
Hypotonia
Macroorchidism (>age 8)
Speech and motor delays
ADHD
Autistic features
What is genetic inheritance of Fragile X?
X-linked dominant, CGG repeat in the FMR1 gene
Rett syndrome signs
Progressive brain deterioration
Deceleration of head growth
Developmental regression
What are the classes of breath-holding spell? What are their causes?
Cyanotic - Vigorous crying –> breath holding –> LOC –> rapid return to normal
Pallid - Minor trauma (no crying) –> pain/fear –> bradycardia –> pale, diaphoretic –> LOC –> <5 min sleepiness/confusion
What should be screened even in classic breath-holding spell?
Iron deficiency anemia
Preterm/low birth weight babies have what imaging finding for cerebral palsy?
Periventricular leukomalacia
Intraventricular hemorrhage (friable germinal matrix vessels)
Cerebral palsy signs
Motor delay (e.g. rolling over after 4 months age corrected)
Early hand preference (age <1 yr)
Persistent neonatal reflexes (tonic neck reflex >6 months)
Abnormal tone (hypotonic –> hypertonic, hyperreflexia, clonus)
What is the most common defect causing closed spinal dysraphism?
Failure of vertebral arch fusion (L5-S1 typically)
Tethered cord syndrome leads to what signs?
Lower motor neuron signs: LE weakness/loss of sensation, hypotonia, hyporeflexia
Older children:
Urologic incontinence/retention, recurrent UTI
Back pain, scoliosis
Neuromuscular hip dysplasia
Foot deformities
What is most commonly associated with infantile spasms (seizures in infancy with clusters of brief muscle contractions)
Tuberous sclerosis complex
What is the classic CNS lesion in tuberous sclerosis complex? What about others?
Subependymal giant cell tumor
Cardiac rhabdomyoma
Renal angiomyolipoma
Retinal hamartoma
What CNS tumor may occur in NF1?
Optic nerve glioma
What CNS tumor may occur in von-Hippel-Lindau disease?
Cerebellar hemangioblastoma
Sturge-Weber syndrome findings
Leptomeningeal angiomatosis - intracerebral vascular lesion
Some infantile spasms (< tuberous sclerosis complex)
Port-wine stain
What is age range of neuroblastoma?
<2 yo
How does placental abruption affect the newborn brain?
Hypoxic ischemic encephalopathy - cerebral edema or white matter damage
Idiopathic intracranial HTN is most likely to affect children in what way?
Vision changes, including affecting CN VI (abducens nerve palsy) causing diplopia and impaired eye abduction
How is idiopathic intracranial HTN diagnosed?
Neuroimaging (MRI, MR venography)
If negative, lumbar puncture showing elevated opening pressure is diagnostic
What are the classic findings of retinitis pigmentosa?
Retinal vessel attenuation
Optic disc pallor
Night blindness, decreased visual acuity, visual field loss
Infratentorial
Cerebellar hemispheric
Supratentorial
Infratentorial - cerebellar signs ipsilateral side + raised ICP
Supratentorial - cerebellar signs on contralateral side + affect sensation
Cerebellar hemispheric - hypotonia and hyporeflexia
What is a major side effect of valproic acid?
Hepatotoxicity
Hypoglycemia or hyperglycemia can cause cerebral edema?
Hyperglycemia
What is the Cushing reflex to increased ICP? What is the Cushing triad?
Hypertension: sympathetic activation to increase systemic BP to maintain cerebral perfusion pressure
Bradycardia: HTN stimulates baroreceptors in carotid artery and aortic arch –> parasympathetic response –> bradycardia
Irregular respirations (part of Cushing triad) - due to impaired brainstem function; indicates cerebral herniation is imminent
What brain part is affected in locked-in syndrome?
Isolated pontine infarction - quadriplegia and cannot speak, but retain consciousness, eye opening, and vertical eye movements
Huntington disease affects which part of brain?
Basal ganglia atrophy - chorea, psychiatric symptoms, dementia
Tourette syndrome associated with what brain part?
Caudate nucleus volume decrease
How are tics different from chorea?
Tics can be temporarily suppressed
What is milkmaid grip?
Intermittently weakened hand grip due to hypotonia and chorea in Sydenham chorea
What is pseudobulbar affect?
Inappropriate laughter/crying
Hydrocephalus pressure on midbrain affects eyes how?
Persistent downward gaze due to upward gaze impairment
What is Chiari II malformation?
Myelomeningocele + herniation of cerebellum through foramen magnum
Obstruction of CSF flow through 4th ventricle + lateral ventricular dilation
What are signs of lens dislocation (ectopia lentis)?
Painless vision loss
Tremulous iris with eye movement
What are two classic causes of lens dislocation?
Marfan - want to look for aortic root disease
Homocystinuria - intellectual disability, thrombotic events
What is indicated by diffuse leptomeningeal enhancement?
Meningitis - increased permeability of meninges
What drug is used to control neonatal seizures?
Phenobarbital
What is Erb-Duchenne palsy? Signs?
Most common brachial plexus injury (C5, C6)
Waiter’s tip posture - extended elbow, pronated forearm, flexed wrists and fingers
Moro/biceps reflex decreased, but grasp intact
What is Klumpke palsy? Signs?
Brachial plexus injury from shoulder dystocia (C8 and T1)
Claw hand - extended wrist, hyperextended MCP joints, flexed ICP joints, absent grasp reflex
Ipsilateral miosis and ptosis (Horner syndrome) - from sympathetic damage
Which of the shoulder dystocia palsies has absent grasp reflex?
Klumpke palsy - brachial plexus injury of C8 and T1
Acute cerebellar ataxia - signs
Acute onset after infection - ataxia, nystagmus, dysarthria
In strabismus, red reflex is stronger in which eye? Treatment? How long screening?
Red reflex more intense in the deviated eye
Light reflexes also asymmetric
Use patch or cycloplegic drops (e.g. atropine) for normal eye
Screen until age 5
What is retinitis pigmentosa?
Genetic: Progressive retinal degeneration
Night blindness, visual field loss –> decreased visual acuity
Retinal pigment deposition, retinal vessel attenuation (lesser oxygen demand), optic disc pallor
What is retinopathy of prematurity?
Presents in infants born at <30 wga
Associated retinal detachment and leukocoria
Treatment for allergic conjunctivitis
Topical antihistamines (eg ketotifen)
Mast cell stabilizers
Allergen avoidance
Cool compresses - induce vasoconstriction
Oral histamines help with concomitant allergic rhinitis
Warm or cold compresses for allergic vs viral conjunctivitis?
Warm: Viral
Cold: Allergic
Acoustic neuroma/vestibular schwannoma are associated with what?
Neurofibromatosis type 2
What gene is affected in neurofibromatosis types I vs II?
I: Neurofibromin
II: Merlin
3-Hz spike-wave pattern on EEG indicates?
Absence seizures
Treat with ethosuximide
Bedwetting is normal until what age?
5 yo
Chiari malformations
I
II
III
Cerebellum inferiorly displaced through foramen magnum
I: Only cerebellar tonsils displaced
II: Cerebellar tonsils + vermis + inferior displacement of medulla; associated with myelomeningocele
III: Severe - herniation into an encephalocele
Signs of Chiari I malformation
Asymptomatic throughout childhood
Occipital headache and/or neck pain
Dizziness and pain with physical activity or Valsalva due to pressure of cerebellar tonsils on foramen magnum
ICP, neuropathy from brainstem compression (eg dysarthria), cerebellar dysfunction (eg ataxia)
What is syringomyelia?
Cyst (syrinx) formation, commonly in cervical region
Occurs in 30% of Chiari I malformation
Expansion can cause progressive neurologic dysfunction (eg paresthesia, weakness)
What is the greatest risk for intraventricular hemorrhage?
Prematurity - hemorrhage may occur from ruptured germinal matrix vessels
Get a head ultrasound
What should be used for lead chelation at different lead levels?
After confirming venous lead levels:
45-69 - Dimercaptosuccinic acid (succimer)
>=70 - Dimercaprol + EDTA
Brain tumor with glial fibrillary acidic protein, bipolar neoplastic cells with hairlike projections, microcysts, and Rosenthal fibers (eosinophilic, corkscrew)
Pilocytic astrocytoma - posterior fossa, infratentorial
Synaptophysin+, Homer-Wright rosettes, small blue cells
Medulloblastoma - posterior fossa, infratentorial
Perivascular pseudorosettes, rod-shaped blepharoplasts (basal ciliary bodies) near nucleus
Ependymoma - commonly 4th ventricle but also primary spinal cord
Craniopharyngioma vs pituitary adenoma
Craniopharyngioma has calcifications
Craniopharyngioma is derived from…
Rathke pouch (ectoderm) - most common suprasellar tumor in children
Cancer with Bombesin+ stain on histology, characteristic rosette, small round blue cells
Neuroblastoma - stage with metaiodobenzylguanidine (MIBG) scan and bone marrow aspirate
