Neuro/Optho Flashcards
Recovery time for facial nerve palsy seen at birth
1-3 weeks for complete recovery
symptoms of congenital glaucoma + timing of presentation
usually in 1st six months of life
tearing
photophobia
enlarged globe (buphopthalmos)
corneal edema and clouding (irregular corral reflex, and dull red reflex)
visual loss
conjunctival injection
Syndromes a/w congenital glaucoma
Sturge-Weber (glaucoma in 30-70%; 45% if port wine stain includes the forehead, eye, and msxilllary area)
neurofibromatosis
retinoblastoma
homocystinuria
Tri21
congenital rubella
Stickler syndrome
long-term exposure to corticosteroids
Most common infectious cause of congenital cataracts
Rubella
ROP screening (timing and who)
infants < 30wks or BW </= 1500g (or severe instability)
examine at 4 wks post-natal age or at 31 wks, whichever is LATER
ROP prevalence
20-50% with a BW <1500g; worst for smallest and lowest gestations
most common outcome in cystic PVL
spastic diplegia
damages deeper, more medial fiber tracts that control lower extremity function
Language development timeline
1-6 months: cooing (vowel sounds)
(4-6 months: vocal play; “expansion stage”, constants+long vowels)
5-7 months: babble (p, b, m sounds)
(8-10 months more complex babble)
10 months: jargon (intimated babble)
15-18 months: echolalia
*lack of babbling by 11 months - prompt audio eval
cochlear implants
directly stimulate auditory nerve endings at basal membrane of the cochlea
For:
> 85 dB hearing impairment
have not benefited from several months of amplification and intense speech therapy
at least 12 months of age
normal EEG background of extremely preterm infant
discontinuous
(burst + low amplitude “inter burst interval”)
*vs “abnormal burst suppression” w/ periods of flat/inactive areas without activity
EEG changes with maturation
EEG background becomes more continuous with:
- shorter inter-burst intervals
- longer duration of bursts
- higher amplitude during the low-amplitude activity
Pupillary reflex tests what CN
CN III (tests both afferent and efferent)
GA when pupillary response observed
30-32 weeks
conjugate horizontal age (GA)
Term
visual fixation
(GA when observed and when well developed)
Seen at term gestation; well developed at age 2 mo
Conjugate vertical gaze (age)
2 mo
Visual following is well developed (age)
3 mo
visual evoked potential reaches adult level (age)
6 mo
optic nerve myelination complete (age)
24 mo
_____(ocular symptom) has been a/w:
13q deletion
Fanconi pancytopenia
FAS
Mobius sequence
Noonan
Smith-Lemli-Opitz
WAGR
Ptosis
Process resulting in cataracts
any process that alters the glycolytic pathway or epithelial cell mites of the avascular lens
Most common form of brain injury in preterm infants
(and the major cause of cognitive deficits and long-term neurodevelpmental impairment in this population)
DIFFUSE periventricular leukomalacia
Most common cause of congenital hearing loss
genetic (50%)
mutation in connexion gene (20-30%)
Threshold for abnormal hearing screening
35db or greater
% of neonates with congenital hearing loss detected in newborn period
90%
Percent breakdown of hearing loss causes
50% genetic (MCC connexin)
25% intrapartum/perinatal injury
25% unknown
Persistence of this reflex past ~4 months concerning for athetoid CP
palmar grasp
% reduction in IVH from corticosteroids
50%
*corticosteroids are the only antenatal strategy that have demonstrated statistically significant reduction in IVH
Note - transfer of mother prior to preterm birth has also been shown to reduce incidence of IVH vs transfer of infant after birth
Reduction in preterm birth would also reduce IVH
Three stages of kernicterus
Early
- lethargic
- hypOtonic
- poor suck
- high pitched cry
Intermediate
- irritable
- hypERtonic
- opisthotonus
- shrill cry
Advanced
- irreversible neurologic damage
- severe hypERtonia
- deep stupor/possible coma
- seizures
- possible death
Sequelae of kernicterus
- movement issues (tone abnormalities, athetosis)
- gaze abnormalities (esp paralysis of upward gaze)
- auditory problems
- dental-enamel dysplasia
*NO cognitive issues
Threshold ROP
Stage 3 w/ PLUS in zone I or II
+ 5 contiguous clock hours
or
8 total clock hours
When to treat ROP
- Threshold (stage 3, plus in zone I or II, 5 contig or 8 total clock hours)
- Type 1 prethreshold:
- zone 1: any ROP + plus or stage 3 (+/- plus)
- zone 2: stage 2 or 3 + plus
Congenital glaucoma genetics
Autosomal RECessive (usually)
males > females
Signs of congenital glaucoma
excessive tearing
corneal cloudiness (2/2 corneal edema)
dampened pupillary light reflex
photophobia
buphthalmos (enlargement of the globe)
eye rubbing
Risk factors of IVH
lower gestational age
male
surfactant deficiency
hyPERcapnia
pneumothorax
fluctuating arterial pressure
early hypotension
Evolution of Gr IV IVH
hematoma in the germinal matrix
–> occludes the venous drainage of the terminal vein
—> infarction and secondary bleeding
(veins of the periventricular white matter drain into the terminal vein, which runs through the germinal matrix)
pathogenesis of PVL
ischemia in “water shed” areas of the PVWM; hypoxia and ischemia alter the development of oligodendrocyte progenitor cells that are especially susceptible to free radical injury
*does NOT result from IVH extension/white matter compression
diffuse PVL characteristics on MRI
high-signal intensity in the white matter on T2 weighted MRI images
Cystic PVL evident on US at what age
2-4 wks
Diagnosis and treatment for abrupt onset of excessive purulent yellow eye discharge
gonorrheal infection
tx: IV/IM cephalosporin
*prompt treatment to avoid progression to corneal ulceration
*prevent with ppx
Onset of gonorrheal conjuctivitis
2-5 days
Onset of chlamydial conjuctivitis
5-14 days
Onset of HSV conjuctivitis
4d - 3 wks
(broad range)
Decreasing gestational age, MAP approaches _______ limit of auto regulation plateau
lower
Cerebral auto regulation in response to PaO2
decrease in PaO2 can blunt auto regulation response
Cerebral auto regulation in response to PaCO2
*most sensitive to changes in PaCO2
hypercarbia/acidosis –> increased blood flow to the brain
Number of beats of clonus at the ankle that is normal in newborns and for how long
5-10 beats up to 3 months of age
Cross-aductor response w/ knee jerk reflex is normal up to what age
8 months
HIE EEG
depression or burst suppression
HIE - areas of the brain injured
Cortical
Deep gray nuclei
(white > gray)
Mobius syndrome aka__________
caused by problems in the________
Facial diplegia syndrome
Caused by problems in the:
cranial nerve nuclei, roots, nerves, or muscles themselves
*absence or underdevelopment of the 6th and 7th cranial nerves
SMA type 1 = degeneration of ________
(aka _________)
degeneration of anterior horn cell
aka Werdnig-Hoffman
Gestational age when hearing screen can be used (both OAE and ABR)
34 wks
Definition of learning disability (2)
- scoring >/= 1 SD below the mean on standardized achievement tests
- having a 1 SD or greater discrepancy between IQ and achievement (measured by psychometric testing)
Most common type of learning disability
verbal
Low BW has disproportionate risk of what type of learning disability
non-verbal, math
(but overall verbal is most common type of learning disability in the US is verbal)
Risk of CP in </= 26 weeks
16-28%
EI associated with increase ______
a/w increase in IQs in preterm, but this does NOT correlate with improved academic achievement
Differences in long term outcomes in extremely preterm neonates have been associated with the following characteristics
sex
BW
exposure to antenatal corticosteroids
Most common nerve to be injured during birth (including side)
Facial nerve (CN VII) - left much more common
(incidence < 1%)
caused by nerve compression with hemorrhage and edema of the nerve sheath
Timeline for cataracts in galactosemia
~ 2 weeks
(excess galactitol in lens)
Anencephaly
Type of abnormal developmental process (generally)
primary neurulation (dorsal induction)
(3-4 wks gestation)
Lissencephaly (what and when)
2 types
d/o of neuronal migration
during 12th-24th week
(often diagnosed after 26-28wks)
smooth cerebral cortex
a/w microcephaly, ventriculomegaly, widened Sylvian fissures
complete or partial agenesis of corpus callosum
Type 1 a/w facial dysmorphism
Type 2 a/w:
- Walker-Warburg - cerebrospinal-ocular dysplasia, hydrocephalus, cerebral malformations
- Miller-Dierker - facial dysmorphism, growth restriction,
Agenesis of the corpus callosum
Type of abnormal developmental process (generally)
prosencephalic development (ventral induction)
(8-12 weeks gestation)
Anencephaly
Type of abnormal developmental process (generally)
primary neurulation (dorsal induction)
(3-4 wks gestation)
Angellman
Type of abnormal neuro developmental process (generally)
neuronal organization
(12 wks gestation to years)
Arnold Chiari
Type of abnormal developmental process (generally)
primary neurulation
(3-4 wks gestation)
Autism
Type of abnormal neuro developmental process (generally)
neuronal organization
(12wks gestation to years of age)
Fragile X
Type of abnormal neuro neudevelopmental process (generally)
Neuronal organization
(beginning 12 weeks gestation through childhood)
Holoprosencephaly
Type of abnormal developmental process (generally)
prosencephalic development (ventral induction)
8-12 wks gestation
lissencephaly
Type of abnormal developmental process (generally)
neuronal migration
12-20 weeks gestation
myelomeningocele
Type of abnormal developmental process (generally)
primary neurulation
(2-4 weeks gestation)
pachygyria
Type of abnormal developmental process (generally)
neuronal migration
12-20 weeks gestation
polymicrogyria
Type of abnormal developmental process (generally)
neuronal migration
12-20 weeks gestation
schizencephaly
Type of abnormal developmental process (generally)
neuronal migration
12-20 weeks gestation
Tri 21
Type of abnormal neuro developmental process (generally)
neuronal organization
12 weeks gestation to years
Tethered cord
Lipoma
meningocele
teratoma
Stage of abnormal neuro development (generally)
Secondary neurulation
(4-7 wks gestation)
Stages of neuronal organization
12 wks gestation - birth: axonal outgrowth and proliferation
6 moths gestation - age 1 year: dendritic and synapse
birth to years: synaptic rearrangements
MicrENcepahly
MacENcephaly
stage of abnormal neuro development
(small or large BRAIN)
neural and glial proliferation
12-16 wks gestation
Stages of neuronal development a/w prematurity
neuronal organization
myelination
Most common side of brachial plexus birth injury
Right
Erb-Duchenne palsy nerves/symptoms
C5-C7 (more common)
“waiter’s tip”
adduction + internal rotation of the arm
extension of elbow
pronation of the forearm
flexed wrist
flexed fingers
*biceps refills generally absent
*palmer grasp intact
Klumpke’s palsy nerves and presentation
C8-T1 (rare in isolation)
- weakness of flexors of wrist and fingers
(inability to flex the wrist) - finger abduction
- flexion at IP joins + hyperextension at MCP
(“claw hand”) - BOTH biceps and palmer grasp reflexes often absent
- reduced sensation in C8 and T1 dermatomes (pinky/ring finger)
- may be Horner’s syndrome if sympathetic fibers of T1 involved
a/w h/o hyperABduction of the shoulder during delivery
Recovery timeline of brachial plexus injury
improvement by 2 weeks
recovery by 6 months
*impairment at 15 months is often permanent
EMG in transient myasthenia gravis and congenital myasthenia gravis
progressive decline in amplitude with repetitive nerve stimulation
Muscle biopsy in myotonic dystrophy
abnormal small and round muscle fibers with large nuclei and sparse myofibrils
both types of hearing screens better at detecting ____ frequecies
better at deteting mid to high frequency
(not as good at low)
Total CSF volume in infants
% CSF in ventricles
Total 50 ml CSF
25% in ventricles
maturation stages of oligodendrocyte lineage;
*which are most vulnerable to inflammatory and ischemic injury
which are most abundant during peak incidence of PVL
neural stem cell
oligodendrocyte progenitor
pre-oligodendrocyte*
immature oligodendrocyte *
mature oligodendrocyte
pre-oligodendrocytes account for 90% of total oligodendrocyte population at 28 weeks
Oligodendrocyte population at term
50% immature oligodendrocytes at term
(increased from 5-10% ~28wks)
Incidence of abnormal neurologic outcome for HIE at 18 months:
mild
moderate (not cooled/cooled)
severe (not cooled/cooled)
mild: normal neuro outcomes as toddlers
moderate: 53% vs 36%
severe: 86% vs 70%
*abnormal = death or major neuro dev disability
(CP, blidness, deafness, Bayley/Grifith 2 SD below the mean, IQ 2 SD below the mean)
HIE reduces risk of death or neurodevelopment impairment (combined outcome) among infants with moderate or severe HIE by approximately ______%
25 (%)
Pathognomonic feature of :
benign sleep myoclonus
events only occur during sleep and cease on arousal
(may be unilateral or bilateral, can be single jerk or repetitive, does not extinguish with holding)
*most common condition misdiagnosed as neonatal seizures
shortcomings of aEEG
- can miss SHORT seizures due to TIME COMPRESSION
- can miss FOCAL seizures due to FEWER CHANNELS
MCC of neonatal seizure (list)
- global cerebral hypoxic ischemia (40%)
- focal cerebral hypoxic ischemia (e.g. stroke) and ICH (17-18%)
- cerebral malformations (5-9%)
- NAS, metabolic derrangements, hypoglycemia, hypOcalcemia, hypOmagnesemia (3-5% each)
- epileptic syndromes
Neonatal seizure:
- mortality rate ______
- ______ % of survivors will have disability
10% mortality rate
54% will have disability
Gestational range with limbs extended at rest
28 weeks or younger
Flexion begins where and at what gestational age
flexion begins distally (knee then hips)
starting at 32 weeks
Gestation when flexion in all four extremeties
by 36 weeks (but not as promnouces as at term)
Scarf sign at 28 weeks vs term
28 weeks - elbow adducted to opposite shoulder
40 weeks - elbow only reaches midline
Moro (timeline)
37 weeks
disappears 3-6 months
asymmetrical tonic neck reflex (ATNR)
well established by 1 month
disappears by 3-4 months
palmer grasp timeline
32 weeks
disappears 3 months
stepping reflex
32 weeks
disappears by 1-2 months
IUGR preterm infant has additional risk for ______ compared to appropriately grown preterm infants
(neurodevelopmental)
IUGR lower full scale and verbal IQ scores
(similar rates of behavioral difficulties)
Define:
impairment
disability
handicap
impairment - structural/functional abnormality at the ORGAN level
disability - restriction at the PERSONAL level (that results from impairment)
handicap - occurs at the SOCIETAL level, disadvanage as a result of a disability that prevents fulfillment of that individual’s usual role
mortality rate in smbgaleal hemorrhage
12-14%
due to shock and coagulopathy
What proportion of patients respond to 1st loading dose of phenobarbital
only 1/3 respond to initial 15-20/kg
phenobarbital a/w what adverse process
neuronal apoptosis
____% of cerebellar development occurs in the last trimester
Brain weight at 34 weeks is _____% of term brain
Cortical surface increases by _____% in the last trimester
Most ______ neurons migrate to the cortex in third trimester
25 % of cerebellar development occurs in the last trimester
Brain weight at 34 weeks is 65 % of term brain
Cortical surface increases by 50 % in the last trimester
Most gaba-nergic neurons migrate to the cortex in the third trimester
Diagnosis of at least one lateral ventricle >10mm
ventriculomegaly
*NOT necessarily hydrocephalus
Describe ophtho findings of corneal clouding 2/2 trauma
when does it resolve
possible sequelae
Descemet membrane tears (commonly vertically or obliquely oriented)
(basement membrane b/w corneal stroma and endothelial layer of the cornea)
resolves spontaneously in several months
astigmatism; amblyopia
GA when fetus responds to sound
~20th week
corresponds w/ developments in the cochlea, inner and outer ear (develop in parallel)
