neuro, eyes and development Flashcards
EEG of absence seizures
3 sec spike and wave
management of absence seizures
ethosuximide, sodium valproate
management of tonic clonic seizures
1st line - sodium valproate
1st line in girls >10 y/o - lamotrigine
describe infantile spasm
sudden symmetrical synchronous spasm and then a tonic phase
developmental delya
within 1st year of life
EEG of infantile spasm
hypsarrhythmia
treatment fo infantile spasm
vigabatrin
describe lennox gastraut syndrome
visual aura **
poor prognosis and only 10% seizure free on meds
due to structural brain abnormalities
describe landua kleffner syndrome
subacute onset of aphasia
previous normal development
residual language impairment
self limiting seizures
describe benign rolandic epilepsy
short lived night time seizures
focal motor aware seizures e.g. twitching of mouth, dribbling, gurgling
interfere with speech
EEG of benign rolandic epilepsy
centrotemporal spikes
describe panayiotopoulos syndrome
prominent autonomic features e.g. vomiting, retching,pallor
EEG of panayiotopoulos
occipital spikes
management of neonatal seizures
phenobarbitone
describe juvenile myoclonic epilepsy
absence seizures + myoclonic jerks of upper limbs (usually in morning)
GTC first time 13-18 y/o
family history
can be provoked by sleep deprivation
EEG of juvenile myoclonic epilepsy
generalised polyspike and wave
4-6 hz polysike and slow wave discharge with frontal predominance over a normal background activity
describe reflex anoxic seizures
triggered by unexpected noise/ startle/ pain
brief cardiac asystolic followed by excessive activity of vagus nerve
looks pale + LOC -> apnoea, eye rolling, jerking of arms and legs
does not affect development
describe dravet syndrome
severe myoclonic epilepsy
triggered by fevers
developmental delay
difficult to control
70% have SCN1A mutation
describe subacute sclerosing panencephalitis
complication 7-10 years after measles infection
fatal and progressive CNS disorder
myoclonus seizure
mood change
investigations for subacute sclerosing panencephalitis
EEG - burst suppression
elevated anti measles antibody Igg IN SERUM AND CSF
describe temporal seizures
complex visual hallucinations
auras of taste
describe occipital seizures
simple visual experiences
symptoms of raised ICP
early morning headache
vomiting
visual disturbances
fluctuating consciousnessness
ataxia
seizures
abnormal pupils
cushings triad
- hypertension
- irregular breathing
- bradycardia
consequence of cushings triad
signs of impending brainstem herniation
management of raised ICP
- CT head with contrast
- urgent neuro surgical discussion
- lie with head at 20-30 degrees
- mannitol or hypertonic saline 3%
what is idiopathic intracranial hypertension
elevated ICH >25 CM WATER with unknwon cause
management of idiopathic intracranial hypertension
- MRI with venography
- acetazolamide (carbonic anhydrase inhibitor) or topiramate
causes of subarachnoid haemorrhage
- arteriorvenous malformations **
- cerebral aneuryms (circle of willis, sylvian fissure)
- space occupying lesion
- head trauma
presentation of subarachnoid haemorrhage
- thunderclap headache - severe, sudden
- vomiting
- focal neurological signs e.g. seizures, irritable, enck stiffness
management fo subarachnoid haemorrhage
- cT head and cerebral angiography
- discuss neuro surgical team (?surgical clipping)
- bp control
SF2 type of hydrocephalus
- non communicating - obstruction of CSF reabsorption ***
- communicating - impaired secretion or reabsorption
causes of non communicating hydrocephalus
- CONGENITAL
- arnold chiari malformation
- spina bifida
- dandy walker malformation
- congenital toxoplasmosis - ACQUIRED
- mass lesions (medulloblastoma - obstruction at 4th ventricle)
- IVH
- infection
causes of communicating hydrocephalus
- impaired secretion
- choroid plexus papilloma (excessive production of CSF) - impaired reabsorption
- infections e.g. meningitis
- haemorrhage
direction of CSF travel
- produced by ependymal cells (simple columnar epithelium) (rate 30ml/hr) in choroid plexus (in lateral ventricle)
- CSF travels through lateral ventricle
- into 3rd ventricle via foramen on munro
- into 4th ventricle via aqeduct of sulvius
- into posterior fossa and basal cisterns
- absorbed by arachnoid granulations in superior sagital dural venous sinuses and around cerebral hemisphere and down spinal cord
signs of hydrocephalus
increasing head circumference
bulging fontanelle
dilated scalp veins
sun setting sign
irritable
vomiting
impaired consiousness level
headache
management of non communicating hydrocephalus
ventriculoperitoneal shunt - one way valve so CSF draians from cranial vault to low pressure peritioneal cavity
causes of neonatal meningitis
- group b strep
- e.coli
- listeria
Causes of child meningitis
- enterovirus ** -most common
- h . influenza
- strep pneumonia
- meningococcal
presentation of meningitis
fever
headache
irritable
vomiting
seizures
neck stiffness
non blanching petechial rash - meningococcal
photophobia
bacterial CSF of meningitis
- high neutrophil count **
- low glucose
3.. high portein
viral CSF of meningitis
- high lymphocyte count
- normal glucose
- normal protein
management of meningitis
notifiable disease
- iv antibiotics - ceftriaxone + amoxicillin (cefotaxime + amoxicillin in neonates)
- IV aciclovir - if herpes suspected
- IV dex - helps hearing loss
management of household contacts of meningitis
ciprofloxacin
IM ceftriaxone to pregnant women
cause of guillain barre syndrome
post infectious neuropathy (generate IgG antibodies against myelin sheath) around 10 days after:
1. gastroenteritis - campylobacter
2. vaccines - rabies, influenza
3. resp infection - mycoplasma
presentation of guillain barre syndrome
- ascending pattern of progressive symmetrical weakness (starts in lower extremities)
- can lead to resp failure
- facial weakness, dysphasia or dysarthria
- sensory loss (start in lower extremities)
investigations for GBS
- Nerve conduction test
- LP - elevated CSF protein, normal CSF cell count, normal glucose
management of GBS
- IV IG
- corticosteroids
- intubation and ventilation in ITU
- pain relief
presentation of dermatomyositis
RASH
1. ‘shawl’ sign - sensitivity to UV light on sun exposed area
2. heliotrope rash
3. gottrons papulss - thickened plaques on DIP joints and knees and elbows
4. thickened hands
MUSCLE WEAKNESS
1. proximal muscle weakness e.g. neck, shoudlers
2. difficulty standing up
diagnosis of dermatomyositis
- ALT *, CK, aldolase rise
- ANA +ve in 80%
- myositis specific antibodies
- muscle biopsy
management of dermatomyositis
- avoid sun
- physiotehrapy
- corticosteroids over 12 months
- methotrextate and hydroxychloroquine
describe bells palsy
lower motor neurone palsy, unilateral, preceded by viral infection
weakness of whole face
facial nerve compression as passes through temporal bone
defect in hemi section syndrome brown sequard
ipsilateral weakness, loss of vibration and position sense
contralateral loss of temperature + pain sensation (anterior and lateral spinothalamic tracts)
describe dandy walker malformation
- cerebellar vermis hypoplasia
- dilation of 4th ventricle
- enlarged posterior fossa
describe horner syndrome
- ptosis
- decreased sweating on affected side
- contracted pupil
use cocaine eye drops to distinguish horners and physiological aniscoria -> small pupil that does not dilate to cocaine eye drops has no sympathetic supply (cocaine drops would normally make pupil dilate within 30 mins)
diagnosis of spinal muscular atrophy
chromosomal microarray
drugs used to improve aquous outflow in glaucoma
- pilocarpine
- aparclonidine (alpha 2 adrenergic agonists)
- prostaglandin anologies (latanoprost)
where does abducens and facial nerve arise
pontine medulla junction
where does trigeminal nerve arise
pons
describe self gratification behaviour
intact consciosuness
cessation of episode after distraction
grunting/ abnromal posturing/ arching
describe blue breath holding attacks
provoked by pain or frustration
remain in end expiratory aponoea -> turn blue -> floppy and unconscious for few seconds -> rapid recovery
reassure parents, no investigations needed
treatment for JME
sodium valproate or keppra
AVOID carbamazepine or lamotrigine as makes episodes worse
usually life long treatment as high risk of relapse
describe marcus gunn pupil
relative afferent defect
retina has sluggish response to light shining
into it
‘jaw winking syndrome’
as open mouth, R eye lid goes up
describe coloboma
failure of closure of optic fissure in the 6th week of gestation
can be part of CHARGE syndrome (coloboma, heart abnormalities, atresia choanae, retardation of growth, ear abnormalities)
vascularisation of retina in utero
starts at 14 weeks and continues until birth
stimulated by vascular endothelial growth factor A and insulin like growth factor
describe retinopathy of prematurity
neovascular disorder affecting babies less than 32 weeks gestation or low birth weight (<1.5kg)
pathophysiology of retinopathy of prematurity
- HYPEROXIC PHASE - high oxygen environment causes down regulation of VEGF halting process of vascularisation of the anterior retina
- HYPOXIC PHASE - anterior retina becomes ischameic as it matures - can create retinal detachment and blindness
management of ROP
laser ablation of the asvacsular ischaemic anterior retina for severe ROP
intra vitreal injection of anti VEGF (bevacizumab or ranibizumab)
screen from 31 weeks or 4 weeks post birth
causes of congenital cataracts
- idiopathic
- familial (20%) if bilateral or parental consanguinity
- syndromes e.g. downs , galactosaemia, tORCH
management of congenital cataracts
surgery within first 2 months of life
topical steroid therapy post op
describe childhood glaucoma
- raised intra ocular pressure - due to impaired aqueous outflow through the trabecular meshwork
- optic disc cupping
causes of childhood glaucoma
- primary - < 1 y/o, bilateral and due to abnormal development of the drainage angle
- secondary aniridia, sturge weber sydnrome , after congenital cataract surgery, steroid therapy
pattern of eye pathology in NAI
multiple bilateral retinal haemorrhages
- dark round sub retinal haemorrhages with a white centre (resolve in months)
- dot and blot shaped intra retinal haemorrohages (resolve within weeks)
- flame shaped nerve fibre layer haemorrhages (resolve in days)
what does the oculomotor nerve control in the eye (CN III)
- superior division
- levateor palpebrae superiosis -> upper lid elevation
- superior rectus -> elevation of eye - inferior devision
- medial rectus -> adduction of eye
- inferior rectus -> depression of the eye (downward movement)
- inferior oblique -> elevates the adducted eye outwards, outward rotation
oculomotor (CN III) palsy
‘down and out’ eye with ptosis
what does trochlear nerve (CN IV) control in the eye
superior oblique - depresses the adducted eye, inward rotation
trochlear nerve palsy
problems reading/ going downstairs
reduced depression in the adducted eye
head tilt towards unaffect side
vertical diplopia
both eyes still look forward
what does the abducen nerve control (CN VI)
Lateral rectus - controls abduction
palsy = horizontal gaze
describe horners syndrome
- small pupil which dilates poorly in the dark
which anti muscarinic eye drops are used
- cyclopentolate 0.5% - last 24 hours
- atropine 1% - lasts for 7 days
- tropicamide 1% - last 3-6 hours
block parasympathetic innervation of the ciliary muscle and pupil sphincter
which sympathomimemetic eye drops are used
used with anti muscarinics for intense mydriasis - needed in surgery, ROP screening etc
- phenylephrine 2.5%. last 12 hours
describe adie pupil
b/l or unilateral inability to constrict pupil (viral infection disrupts ciliary ganglion causing parasympathetic dysinnervation)
test using pilocarpine - miosis if +ve
risk factors for squints
downs syndrome
cerebral palsy
refractive error
cataract
retinoblastoma
family history
acute RF : head trauma, neoplasm, meningitis, encephalitis, hydrocephalus
define myopia
short sighted
define hypermetropia
long sighted
types of squints/ strabismus
- concomitant / non paralytic **
= extra ocular muscles and nerves normal but IMBALANCE in muscle tone - paralytic squint
= weakness of one or more extraocular muscles - need to find a cause, deviation varies with direction of gaze
define convergent and divergent
convergent/ esotropia = one eye turns inwards (more common)
divergent = one eye turns outwards
how to test for squint
- cover testing - if eye moves outward when uncovered , shows esotropia
- corneal light reflex test
- visual acuity test - complication of squint is ambylopia (visual loss), use Kays cards for 2-4 y/o
- eye movements
management of squint
- squint over > 12 weeks old should be referred to eye specialist
- patching of the normal eye
- correct refractive error
- corrective surgery
causes of orbital cellulitis
- H influenza
- staph aureus (trauma to eye)
- strep pneumoniae
- fungi
complication of sinusitis
presentation of orbital cellulitis
- orbital pain
- proptosis
- chemosis (swelling of eyelids)
- diplopia
- reduced visual acuity
- painful extra ocular motion / restricted eye movements
- fever
complications of orbital cellulitis
- visual loss
- increased intraocular pressure
- central retinal artery occlusion
- orbital abscess
- meningitis
- sub periosteal abscess
investigations for suspected orbital cellulitis
- FBC, blood cultures
- eye swabs
- ct of sinuses and head and orbit
management of orbital cellulitis
- co-amoxiclav PO (if no fever, pre septal) or IV cefuoxime
- surgery if collection / abscess/ no response to abx
cause of uveitis
- autoimmune - SLE, JIA (oligoarticular), crohns, sarcoidosis, rheumatoid arthritis
- HLA B27 - ank spon
- idiopathic
how does uveitis present
red eye
ocular pain
photophobia
reduced visual acuity
tenderness of upper eyelid
structures in the uvea
- anterior uvea - iris and ciliary body
- posterior uvea - choroid
investigations for uveitis
- bloods - autoimmune markers
- ocular imaging - optical coherance tomography + fluorescin angiography
- slit lamp - congestion of iris and white preticipates at anterior cornea
management of uveitis
- anterior uveitis -> topical corticosteroids and periocular injection
- posterior uveitis -> systemic immunosuppressants + steroids
+ atropine and phenylephrine (relieves pain by paralysing eye and stops iris lens adhesions)
pathophysiology of retinoblastoma
intraocular malignancy arising from retinal nerual cells
mutations in RB1 gene on chromosome 13q/14
inherited via germline (higher risk of b/l disease) or sporadic mutation
presentation of retinoblastoma
- leukocoria = white eye reflex on newborn screening
- strabismus
- reduced vision
- eye redness and pain due to inflammmation
differentials for leukocoria
- congenital cataracts **
- retinoblastoma
investigations for retinoblastoma
- CT and MRI brain
- ophthalmoscopy with cyclopentolate eye drops
- genetic testing for RB1 gene
management of retinoblastoma
systemic chemo and radio - vincristine, etoposide and carboplatin
surgery - laser therapy ?
how is bitemporal hemianopia caused
lesion in the optic chiasm e.g. pituitary adenoma (lies above sella turcica of sphenoid bone
how is monocular visual field loss caused
optic nerve lesion
how is homonymous hemianopia caused (defect same in both eye)
optic tract - contralateral optic tract to visual loss
optic radiation if quadrantopia
how is contralateral homonymous hemianopia caused (with macular sparing)
visual cortex lesions (broadman area 17) in occipital lobe
describe moebius syndrome
facial paralysis and inability to move eyes to the side (b/l convergent squint’
expressionless
drooling
feeding difficultues
cleft palate
missing digits
clubbed feet
describe duane syndrome
inability to turn eye to abduct
describe brown syndrome
defect in superior oblique tendon sheath so unable to look upwards
eye problems with MS
- b/l intranuclear ophthalmoplegia - pontine lesion at medial longitudinal fascicularis (cant adduct either eye)
describe a stye
abscess with pus in lumen of infected gland
full of polymorphonuclear leukocytes
describe congenital glaucoma presentation
corneal cloduing from oedema
reduced red reflex
watering of the eye
photophobia
symptoms of retinal detachment
- flashes of light in the eye
- blurred vision
- sudden loss of vision/ curtain shadow over visual fieldfs
describe the changes in diabetic retinopathy
1st sign = dot haemorrhages, cotton wool spots, venous bleeding
late = macular oedema
advanced = blot haemorrhages, hard exudates -> soft exudates
screen > 12 y/o
how is spina bifida caused
develop in week 3-4 gestation
sodium valproate increases risk by 10-20 fold
3% risk of 2nd baby
prevention y taking folic acid
describe spina bifida occulta
defect in development of vertebral arch, usually lumbar spine
describe spina bifida cystica
more severe neural tube defect where spinal cord +/- meninges protrude throygh skin
associated with chiari malformation (downward displacement of cerebellar tonsils through foramen magnum
describe flow of tears
- produced in lacrimal glands and into lacrimal duct
- collect in lacrimal lake
- drain into lacrimal sac and then into nasolacrimal duct
how does NF2 present
bilateral acoustic neuromas
tumours in cranial nerves
meningiomas
spinal astrocytomas
ependyomas
where does HSV1 encephalitis normally affect in the brain
temporal lobe
shows b/l aysmmetric gyral oedema with areas of haemorrhagic necrosis
describe Battens disease
dementia
optic atrophy
myoclonic jerks
describe hereditary spastic paraplegia
family history - autosomal dominant
increased tone
absence of perinatal events - similar to CP
describe piaget 4 stages for normal development
- sensory motor 0-2 y/o
- preoperational 2-7 y/o - cannot contemplate other peoples perspective
- concrete operational 7-11 y/o - logical and abstract thought
- formal operational > 11y/o - logical reasoning and planning
describe anterior cord syndrome
paraplegia with loss of spinothalamic pathways (pain + temperature) but preservation of dorsal column (proprioception, vibration and pressure)
defect in parietal lobe (visual )
homonymous inferior hemianopic cleft (Land R quadrant affected)
features of brain death
absent gag or cough reflex to oropharyngeal suctioning
absent pupillary response to light or corneal reflex
rise in blood PCO2 >20mmHg from 40 to 60 mmHG with no resp response
common site for iVH
germinal matrix in subependymal region in preterm babies
choroid plexus in term babies
describe dissociative seizure
seizure with emotional upset
non epileptic
older child
control of afferent and efferent optic pathway
optic nerve and oculomotor
describe internuclear ophthalmoplegia
medial longtidunal fissures - lesion on side eye fails to adduct
nystagmus on horizontal gaze
weaken adduction, abduction spared
presentation of adrenoleukodystrophy
change in behaviour
alteration in gait
UMN lesion - brisk reflexes, increased tone
white matter disease
cause of autism
abnormality of neuronal migration or connectivity
cell adhesion proteins involved - neuroligin , neurexin and cadherin coding genes
Where does strawberry naevus grow from
dermis
