Ch 27 - Neurological disorders Flashcards
Headaches: primary (4) secondary (define)
Primary: Thought to be due to primary malfunction of neurones
- migraine
- tension-type
- cluster
- other primary e.g. cough/exertional headache
Secondary: symptomatic of some underlying path e.g. raised ICP
Tension type headache: features (3)
2nd most common type F - gradual onset, symmetrical, tightness/band/pressure
Migraine (most common headache) - without aura features (5)
F - 1-72hrs, bilat/unilat, PULSATILE over temoral/frontal area, +/- N&V, photophobia, phonophobia. aggravated by physical activity
Migraine with aura: triggers (3), features (4)
Triggers:
- Food - caffeine/chocolate/OCP
- poor sleeping patterns
- stress
Features:
- visual/motor/sensory aura e.g. hemianopia/scrotoma (small areas of visual loss)
- Pulsatile headache for a few hours
- Fortification spectra - zig zag lines
Give a 3 uncommon types of migraine
- Familial - Ca channel defect, autosomal dominant
- basilar-type - vomiting + nystagmus + cerebellar signs
- Periodic syndromes - often precursors of migraines:
- cyclical vomiting
- abdominal migraine - episodic abdo pain in bouts
- benign paroxysmal vertigo of childhood - recurrent brief vertigo episodes which self resolve - all tests normal between episodes
Secondary headaches: SOLs & raised ICP: features (6)
Features:
- worse lying down
- night time waking
- morning vomiting
- mood/personality change
- poor educational performance
- visual field defects
- CN defects e.g. facial palsy, diplopia, squin
- Papilloedema
Management: when to do imaging? (1), rescue treatments for headaches (3), headache prophylaxis (3)
Rescue treatment:
- Analgesia - NSAIDs/ paracetamol
- Anti-emetics e.g. prochlorperazine + metoclopramide
- 5-HT agnoists e.g. sumatriptan
Headache prophylaxis:
- Pizotifen - 5HT antagonist (causes weight gain + sleepiness)
- BBlockers - not if asthmatic
- Sodium channel blockers e.g. valproate
Seizures: definition, causes: epileptic (5)
Definition: Sudden disturbance in neurological function as a result of abnormal/excessive neuronal discharge
Epileptic causes:
- Idiopathic (80%) - presumed genetic
- Secondary
- Cerebral malformation
- Cererbal vasc occlusion
- cerebral damage e.g. congenital infection, hypoxia - HIE, haemorrhage
- Cerebral tumour
- neurodengerative disorders
Causes of non-epileptic seizures (5)
Non-epileptic:
- Febrile seizures
- Metabolic
- Hypoglycemia
- Hypo/hypernatremia
- hypocalcemia
- Head trauma
- Meningitis/encephalitis
- toxins
Febrile seizures: definition, features (3), risk of developing epilepsy?
D - A seizure accompanied by high fever in absence of IC infection due to meningitis/encephalitis
F - genetic predisposition - 10% risk if 1st degree relative had febrile seizures, seizures are brief & tonic-clonic
They do not have increased risk of developing epilepsy - unless it was a complex febrile seizure ie. prolonged, focal, recurrent
Paroxysmal disorder (funny turns) have broad DDx, and the diagnositc question is whether the even was that of epilepsy or a condition which mimics it.
Breath holding attacks - 3 features
Reflex anoxic seizures: age group, common triggers (3), features (3)
Breath holding attacks
- angry/ upset toddler
- crying, goes blue holding breath and may have LOC
- rapid recovery with spontaenous resolution
Reflex anoxic seizures:
- Infants- toddlers
- Triggers e.g. head trauma, cold food, fright, fever
- Features:
- Goes pale + falls to floor
- brief tonic clonic seizure with quick recovery
- episodes are due to cardiac asystole from vagal inhibition
Paroxysmal disorders continued:
Neurological causes - syncope, migraine, BPV
Arrythmia
Neuro causes:
- syncope - hot and stuffy environment
- migraine
- BPV - nystagmus, unsteadiness/falling, viral labrynthitis
Arrythmia
- prolonged QT
Ix of 1st non-febrile seizure (1)
12 lead ECG in all children
Seizure classification: Generalized:
- absence
- myoclonic
- tonic-clonic
- tonic
- atonic
Generalized = discharge from both hemispheres
- absence - trainsient LOC, abrupt onset + termination, eyelid flickering, often preceded by hyperventilation
- myoclonic - brief repetitive jerking movements of trunk, limbs
- tonic - generalized increase in tone
- tonic-clonic - rhythmic muslce group contraction following tonic phase. Fall to ground, no breathing + cyanotic
- atonic - transient muscle tone loss - sudden fall to floor
Focal seizures - manifestations depend on part of cortex:
Frontal seizures - features (2)
Temporal - auditory/sensory: features (4)
Occipital seizure (1)
Frontal - motor/ premotor cortex
- clonic movements which may travel proxmially
- asymmetrical tonic seizures
- atonic seizures
Temporal:
- most common
- preceded by aura e.g. lip smackign, clothes picking, smell/taste altered & if spread to pre-motor cortex then automatisms (walking in non purposeful manner), deja-vu
- consciousness may be impaired
Occipital - visual distortion
Parietal - contralateral sensation; altered sensation or distorted body image
Ix epilepsy (4)
- Detailed history from child + eye witness
- EEG - indicated whenever suspected epilepsy
- sharp waves, spike wave-complexes are evidence of neuronal hyperexcitability
- however may be normal (or abnormal in normal child)
- 24hr EEG
- Imaging - not routine, indicated if focal seizures or signs between seizures, to look for tumour/vascular lesion
- functional scans - e.g. PET used to detect areas of hypometabolism
Management of epileptic seizures: tonic clonic (3), absence (3), myoclonic (2), focal (lots)
Treatment not begun after 1 unprovoke seizure (> indicates 2nd line)
- tonic-clonic - valproate, carbamazepine > lamotrigine, topiramate
- absence - valproate, ethosuximide > lamotrigine
- myoclonic - valproate > lamotrigine
- Focal - carbamazepine, valproate > topiramate, gabapentin, vigabatrin, tiagabine
- other treatment - ketogenic diet, vagal nerve stim, surgery
Epilepsy syndromes: West syndrome - features (3), Ix (1), Rx (2)
West syndrome - 4-6 months age group
Features:
- violent flexor spasms of head, neck & trunk followed by extension - giving ‘salaam spasms’ look
- often on waking
- social interaction deteriorates - most develop LDs
Rx: Vigabatrin/ steroids
Epilepsy syndromes: Lennox-Gastaut (1-3 yrs): features (3), Ix (1)
Lennox-Gastaut
F:
- multiple types of seizures, but mostly atonic - drop attacks
- daily seizures + status epilepticus
- neurodevelopmental arrest/ regression
Ix:
- EEG - slow spike waves, poor prognosis
Epilepsy syndromes: Childhood absence seizures (4-12 yrs)
Features (3), Ix (1)
Features
- can be induced by hyperventilation
- Child stares monentarily and stops moving +/- eyelid twitch
- <30s, child puzzled after
- 2/3 female & 95% remission
Ix
- blow on piece of paper/windmill for 2 min - EEG will show generalized 3s spike and wave discharge
Juvenile myoclonic epilepsy: adolescence/adulthood
features (3), Ix (1)
F
- myoclonic seizures - but can also have tonic-clonic/absence
- shortly after waking
- typical history - throwing drinks/cereal in the morning
Ix
- Characteristic EEG
- Good treatment but life long
Corticospinal tract (UMN) lesions - causes (3), features (5 - muslce movement)
C - encephalitis, HIE, stroke, tumour
F:
- weakness + shoulder adduction + elbow flexion + forearm pronation
- Hip adduction + internal rotation + flexion
- Hyperreflexia
- extensor plantars
- loss of fine finger movement
Basal ganglia lesions (deep grey matter structures which store patterns of movement so that we need not put conscious effort into every movement): causes (3), features (4)
Causes - acquired; HIE, CO poisoning, rheumatic fever, Wilson’s, Huntingtons
F:
- Difficulty initiating movement + fluctuating tone (largely increased dystonia)
- Release of packets of movement information > give jerky movement chorea or writhing athetosis
Cerebellar disorders: causes (3), features (3)
Causes: alcohol, post-viral (varicella), medulloblastoma, ataxia telangiectasia
F:
- difficulty holding posture - esp with eyes closed
- past pointing - dysmetria
- poor alternating movements - dysdiadochokinesia
- wide gait
Neuromuscular disorders can occur if any part of the lower motor pathway is affected - 4 parts of this pathway, general features of neuromuscular disorders (4)
- disorders of anterior horn cell
- disorders of the peripheral nerve
- disorders of the NMJ
- Muscular disorders
Features
- weakness - is key feature (progressive/static)
- floppyness
- delayed motor milestones
- muscle cramps - suggests metabolic myopathy
What is Gower’s sign? What does it indicate?
Gower’s sign - infant needs to turn prone to rise up to a standing from supine position
Indicates proximal muscle weakness (e.g. DMD)
Investigations you would carry out for suspected:
- myopathy (4)
- neuropathy (3)
Myopathy
- Serum creatine phosphokinase (high in DMD, BMD)
- muscle biopsy
- chromosomal testing
- muscular USS/ MRI
Neuropathy
- nerve conduction studies
- DNA testing
- nerve biopsy
- EMG
Anterior horn cell disorders: features (4)
- Spinal muscular atrophy type 1: features (6)
General features: weakness, fasiculations, wasting, areflexia
SMA I: Due to mutations in survival motor neuron gene
- Very severe progressive disorder; dimished foetal movement
- arthryogryposis at birth - positional deformities of limbs + contractures
- absent deep tendon reflexes
- intercostal recession - weakness of intercostal muscless
- never sit unaided - death from resp failure within 1 yr
SMA type II & III - prognoses
Type II - can sit but never walk unaided
Type III - can walk and present later in life
General features of peripheral neuropathies (3)
Weakness, impaired pain/temp/touch perception, reflex loss
peripheral neuropathies:
Hereditary motor sensory neuropathies: definition, Type I (Charcot-marie-tooth aka peroneal muscular atrophy) - pathology, features (3)
Definition: slow progressing + symmetrical muscle wasting which is distal
CMD:
- dominant inheritance, nerves may be hypertrophic due to repeated attempts at myelination and therefore have onion bulb appearance
- pes cavus (high arching foot) + distal atrophy
- dimished reflexes
- distal sensory loss
Guillain Barre: definition, features ( 5), rx (2)
D - acute post-infectious polyneuropathy
F:
- Present 2/3 weeks post URTI or campylobacter infection
- ascending symmetrical weakness + loss of reflexes + autonomic involvment
- Bulbar involvment - difficulty chewing/swallowing
- Resp depression - may require ventilation
Rx
- supportive - full recovery within 2 yrs
- IvIg
Bells Palsy: definition, features (3)
what if there is CNVIII involvment? (what does it indicate)
Ramsay Hunt syndrome
D - isolated CNVII paresis > facial weakness. Usually due to post-infectious (HSV)
F - unilateral facial paralysis - loss of smile, unable to close eyelid - risk of conjunctivitis
VIII involvement indicates cerebellopontine angle lesion
ramsay-hunt - Bell palsy + ear vesicles (HSV) > aciclovir
Neuromuscular junction disorders - myasthenia gravis (transient neonatal + juvenile): Give features (4), diagnosis (2), Rx (3) of juvenile
Binding of abs to postsynaptic nACh receptors
Features: present after 10yrs
- opthalmoplegia
- ptosis
- loss of facial expression
- diff chewing
Diagnosis:
- edrophonium > improvement in fatigueability
- also can test for anti-nAChR abs
Duschenne muscular dystrophy: definition + cause, features (6), Ix (2), Rx ( 4)
DMD: a debilitating X-linked recessive disorder caused by dystrophin gene deletion
F:
- Gower’s sign
- slow running
- clumsiness
- waddling gait
- calf pseudohypertrophy - muscle replaced by fat and fibrous tissue
- scolliosis
- die of resp failure/cardiomyopathy by 30
Ix:
- Creatine phosphokinase, muscle biopsy
Rx:
- palliative - exercise, passive stretching
- splints, truncal brace
- CPAP, steroids
BMD: cause, features (1)
Some functional dystrophin is produced, so the features are similar to DMD but less severe & slower progression - survive to late 40s
Give 3 metabolic myopathies
- Glycogen storage disorders
- lipid metabolism disorders e.g. MCADD
- Mitochondrial cytopathies e.g. MELAS
benign acute myositis: features (3)
A self limiting condition caused by URTI (probs influenza) > pain in calves, raised CPK
Inflammatory myopathies - Dermatomyositis: features (5), Ix (1), Rx (1)
A systemic illness probably due to an angiopathy, is usually chronic
Features:
- insidious with fever + misery > eventually symmetrical prox. muscle weakness
- heliotrope rash to eye lids
- perio-orbital oedema
Ix: Muscle biopsy - Inflammatory cells infiltrate + atrophy
Rx: steroids
The ‘floppy infant’: define, causes can be cortical, genetic, metabolic or neuromuscular - give example of each. Features of floppy infant (3), how to differntiate cause
D - persistent hypotonia
Causes:
- Cortical - HIE
- Genetic - Down/ Prader willi
- Metabolic - hypothyroid/ hypocalcaemia
- neuromuscular - SMA, myasthenia
Features: infant slios through fingers, hangs like rag doll, head lag when lifted
Differentiation:
- Central - poor truncal tone + preserved limb tone
- genetic - dysmophia
- LMN lesion - areflexia
Friedreich ataxia: cause (1), faetures (5)
Cause - Trinucleotide repeat - fraxtin mutation
Features:
- ataxia, distal muscle weakness
- lower limb areflexia
- pes cavus babinski +ve
- impaired proprioception + vibraiton sense (in contrast to HMND)
Ataxia telangectasia: cause, Features (4), Complications (2)
Cause - AR condition with mutation in ATM gene - disorder of DNA repair
F -
- motor developmental delay
- oculomotor issues - incoordination + delay in pursuit (oculomotor dyspraxia)
- Telangiectasia in conjunctiva
Complications:
- increased risk of infections - due to IgA surface Ab defect
- ALL, raised AFP
Extradural haemorrhage: pathology (2), features (4), Rx (3)
Usually due to direct head trauma: middle meningeal artery tear - passes through foramen spinosum.
F:
- lucid interval after trauma
- then LOC > seizures (as haematoma gets bigger)
- focal neurology - pupil dilation, contralateral paresis, 6th nerve paresis
Rx: confirm with CT > correct hypovolaemia > haematoma evacuation
Subdural haemorrhage features (3)
NAI - shaking/direct trauma
Retinal haemorrhage often present
SAH: features
Usually caused by aneurysm or AVM; much more common in adults
head pain + neck stiffness
Seizures + coma may develop
CT identifies blood in CSF, avoid LP due to raised ICP
Stroke causes in children (6)
- cardiac - congeintal cyanotic HD e.g. ToF, IE
- Inflammatory e.g. SLE
- post-infectious e.g. varicella
- congeintal vascular malformation e.g. moyamoya disease ‘puff of smoke’ - becaue of that appearance on angiography
- metabolic/genetic e.g. MELAS, homocystinuria
- Haematological e.g. SCD, or anti-thrombotic factor def e.g. Protein S
Neural tube defects - failure of normal fusion of neural plate to form neural tube: anencephaly, encephlocele
Anencephaly - failure of development of most of cranium + brain > stillborn > detected on USS and TOP performed
Encephalocele - Extrusion of brain + meninges via midline skull defect > surgical repair but underlying associated malformations
Neural tube defects; Spina bifida occulta; what is it? Features (2)
Failure of fusion of verterbal arch
there is usually and overlying skin lesion e.g. skin tuft or lipoma
may get cord tethering to cause neuro symp
Neural tube defects: meningocele, myelomeningocele- 2 features
Meningocele - jst a protrusion of meninges via vertebral arch
Myelomeningocele - protrusion of both meninges + spinal cord - so can get leg paralysis, sensory loss, neuropathic bladder/ bowel
Hydrocephalus: defintion, Noncommunicating vs communicating, features (4), Rx (1)
D: obstruction to CSF flow > dilation of ventricular system proximal to site of obstruction
Types:
Noncommunicating - if obstruction within ventricular system or aqueduct: e.g. Aqueduct stenosis, chiari malformation, posterior fossa neoplasm
Communicating - if obstruction at site of CSF reabsorption e.g. due to SAH or meningitis
Features: enlarged head, suture separation, bulging fontanelle, downward gaze aka ‘sunset eyes’ (late sign), raised ICP signs
Rx: Ventriculoperitoneal shunt
Neurocutaneous syndromes: why do they occur?
Embryologically nervous system & skin have common ectodermal origin - so embryological disruption causes syndromes involving abnormalities to both systems
Neurocutaneous syndromes: NF type 1: criteria for diagnosis (5)
AD condition, in order to diagnose need 2 or more of following:
- Cafe au lait spots > 5mm pre puberty & > 15 mm after
- > 1 neurofibroma - unsightly firm nodular overgrowth of any nerve
- axillary freckles
- optic glioma - may cause visual impairment
- Lisch nodule
- 1st degree relative with NF1
Neurocutaneous syndromes: NF2 features (3)
Less common than type I and presents in adolescence
Bilateral acoustic neuromata present with deafness +/- cerebellopontine angle syndrome with VII paresis + cerebellar ataxia
Neurocutaneous syndromes: Tuberous sclerosis
Dominant inheritance
Cutanaeous features
- De-pigmented ‘ash leaf’ patches- flouresce under Wood’s ligh
- Shagreen patches - rough patch over lumbar spine
- Adenoma sebaceum - angioibromata in butterfly distribution over face
Neuro features:
- developmental delays
- epilepsy
- LDs
Other features
- Subungual fibromata - beneath nails
Diagnosis - MRI - calcified subependymal nodules/ tubers
Sturge weber syndrome: features (3), Ix (1)
Haemangiomatous facial lesion (port wine stain) in distribution of trigeminal nerve
opthalmic division of CN V always involved
epilepsy + LD
Ix - Skull xray - calcification of gyri - rail road track
