Neurology Flashcards
Cerebral palsy, epilepsy, seizures, febrile convulsions, funny turns, floppy infant, headache, ataxia, hydrocephalus, neural tube defects, muscular dystrophies, neuropathies
What is cerebral palsy?
A permanent disorder of movement + posture due to a non-progressive abnormality in the developing brain
CF emerge over time due to the balance between the normal + abnormal cerebral maturation
What are the causes of cerebral palsy?
- Antenatal (80%): brain haemorrhage, cortical migration disorders, structural maldevelopment, genetic syndromes, congenital infection
- Perinatal (10%): HIE
- Postnatal (10%): brain infections, head trauma, symptomatic hypoglycaemia, hydrocephalus, hyperbilirubinaemia
Cerebral palsy CF
- Delayed motor milestones
- Slowing head growth
- Abnormal limb/trunk posture + tone
- Feeding difficulties e.g. ore-motor incoordination
- Gait abnormalities e.g. spastic diplegia
- Hand preference before 12m old (R/L handedness)
- Persisting primitive reflexes (inhibits normal motor development)
- Co-morbidities like epilepsy and LD
How is CP classified?
- Spastic type (majority): damage to UMN pathways (CSTs) causing spasticity, may have clasp life rigidity, extensor plantar responses (usually early but may initially have head hypotonia). May be a unilateral hemiplegia, a bilateral quadriplegia or a bilateral diplegia
- Dyskinetic type: involuntary uncontrolled movements, variable tone, primitive motor reflexes persist, feeding often impaired, risk of hip deformity + scoliosis. Often p/w floppiness + delayed motor development
- Ataxic/hypotonic type: early trunk + limb hypotonia, poor balance, delayed motor development, later may develop cerebellar signs
How is CP managed?
MDT as often a range of problems
Hypertonia-botulinum toxin injections or selective dorsal rhizotomy (cut some nerve roots to reduce spasticity), intrathecal baclofen (skeletal muscle relaxant), deep brain stimulation of the basal ganglia
What is epilepsy?
A brain disorder that predisposes to unprovoked epileptic seizures; usually a genetic ‘idiopathic’ form but also there are structural + metabolic causes
Outline the classification of epilepsy
- Generalised: B/L synchronous discharge from both hemispheres, lose consciousness if >3s. Includes absence, myoclonic, tonic, tonic-clonic and atonic seizures
- Focal: seizures from neurones in one hemisphere, consciousness may be lost/altered/retained, can evolve to a secondary generalised seizure, may have an aura (reflecting the site of origin)
Infantile spasms/West syndrome
Onset at 3-12 months with violent flexor spasms then arm extension, a couple of seconds but in bursts of about 20
On waking, multiple times per day
Usually an underlying neurological cause
Lennox-Gastaut syndrome
Onset 1-3y
Multiple types of seizures but mostly atonic and atypical absences
Often a/w neurodevelopmental regression + behaviour disorders
Childhood absence epilepsy
Abrupt onset + end, transient LoC, no motor signs except flickering of eyes, momentary unresponsive stare. Child has no recall
Onset 4-12y
Often precipitated by hyperventilation
Development normal but can affect school
80% go by adolescent, some evolve to juvenile absence/myoclonic
Benign rolandic epilepsy
Onset 4-10y
Tonic-clonic in sleep or simple focal seizures with abnormal sensations
Common, may not need AEDs, goes by adolescence
Early onset benign occipital epilepsy
1-5y
Autonomic features, vomiting, unresponsive staring in sleep, may convulse
Remits in childhood
Juvenile absence epilepsy
Onset 10-20y
Absence + TC seizures, photosensitivity
Learning unimpaired
Good response to AED but needs for life
Juvenile myoclonic epilepsy
Onset 10-20y
Myoclonic seizure (brief, often repetitive jerking movements of limbs/neck/trunk) + TC + absences
Usually just after waking
Learning unimpaired
Good response to AED but needs for life
How is epilepsy diagnosed in children?
ECG: rule out convulsive syncope e.g. long QT
EEG: categorise type + severity (if normal may try a sleep/sleep-deprivation EEG)
Imaging: structural (usually need MRI + CT brain for childhood epilepsies), may do functional imaging
In first 2y: metabolic investigations
Genetic tests in intractable cases
How is epilepsy managed?
- Educaiton
- Specialist epilepsy nurse
- Decide on AED
- Adv about prognosis-promote confidence + independence but avoid things like swimming unsupervised
- SUDEP: sudden unexpected death in epilepsy. If parents are asking about it emphasise how very rare it is and direct to information from groups like Epilepsy Action
- 1/3 of children with epilepsy go to a special school because their epilepsy is part of a severe brain disorder
- Surgery in a well-localised cause e.g. temporal lobectomy for mesial temporal sclerosis
What are the principles of AED therapy?
- Not everyone needs it
- Appropriate AED for the type (e.g. carbamazepine can worsen absence + myoclonic seizures)
- Aim for monotherapy at minimum effective dose
- Discuss potential ADRs
- Don’t need to measure AED levels unless concerns re concordance
- May be stopped after 2y seizure-free (but continue indefinitely in juvenile absence/juvenile myoclonic)
Important ADRs of valproate?
Weight gain, hair loss, teratogenic (don’t give to girls), rarely liver failure
Important ADRs of carbamazepine?
Rash, hyponatraemia, ataxia, liver enzyme induction - interferes with meds like COCP
Important ADRs of lamotrigine
Rash, insomnia, ataxia
Important ADRs of ethosuximide
N+V
Important ADRs of levetiracetam
Irritability (but generally quite well tolerated)
Important ADRs of gabapentin
Insomnia
Important ADRs of topiramate
Weight loss, depression, paraesthesia
Important ADRs of vigabatrin
Irritability, restricted visual fields - so only used in infantile spasms + tuberous sclerosis
What are febrile convulsions?
Epileptic seizure + fever, without intracranial infection
Most often 6m-6y old, Genetic predisposition, usually occurs early in a viral infection as temp rises rapidly
What are the types of febrile convulsions?
- Simple: no brain injury, child develops as normal, 1-2% chance of later getting epilepsy (similar to the chance in all children)
- Complex: prolonged/focal/repeated in the same illness, up to 12% risk of later epilepsy
How are febrile convulsions managed? Inc adv to parents
*Reassurance
*Antipyretics can be given but not shown to prevent seizures
*First aid management of seizures
*If seizure >5min give buccal midazolam for rescue therapy
*Up to 40% have another febrile seizure esp when they are younger or the seizure was
triggered at a lower temperature
*Explain that EEG not indicated
*Explain that AED not used as dont risk recurrence rate + risk of ADRs
What exactly is a funny turn?
Paroxysmal disorders
Blue breath holding spells
Toddlers when upset hold breath in expiration + go blue, sometimes get brief LoC
M: behaviour modification e.g. distraction
Reflex anoxic syncope?
Brief cardiac systole from vagal inhibition
May have a FH of faints, triggers like pain (e.g. minor head trauma)/cold food/fright/fever – child becomes pale and falls to floor – hypoxia may induce a TC seizure
Rapid recovery
Syncope?
Transient LoC with loss of postural tone + spontaneous recovery due to transient cerebral hypo perfusion, usually benign, often have clonic movements
- Neurally mediated (usual): in response to stressors like orthostatic intolerance/sight of blood/pain/standing too long/hot room etc. Usually get a prodrome of light headedness/abnormal vision/pallor/nausea (usually maladaptive drop in BP)
- Cardiac: arrhythmia (heart block, SVT, VT) or structural (AS, hypertrophic cardiomyopathy). Suggested if there are sx on exercise, FH of SCD, palpitations
What are the causes of fits/faints/funny turns?
- Syncope
- Cardiac arrhythmias like long QT
- Blue breath holding or reflex anoxic seizures
- Migraine
- BPPV
- Tics, daydreaming, night terrors
- Non-epileptic attack disorder/functional seizures
- Pseudoseizure (child faking it), fabricated (parent faking it), induced (adult deliberate invoking it e.g. giving a child insulin to cause hypoglycaemia)
- Paroxysmal movement disorders (no LoC)
What is a floppy infant?
Abnormally limp hypotonic infant
Quite common and caused by a range of things
CF include ‘rag doll’ like, head lag, difficulty feeding, reduced movements
How would you assess a floppy infant?
Prenatal hx: reduced fetal movements, polyhydramnios, drug exposure, maternal disease, congenital infection
Neonatal hx: preterm, birth trauma, low Apgar, breech
Developmental hx
Feeding: tiring, choking, aspirating
FH: consanguinity, prev miscarriages, NM/metabolic/genetic conditions in siblings
Examination: dysmorphic features, posture, tone in limbs + truncal, power (the 5 point scale), weak cry/use of accessory muscles can also indicate weakness, reflexes, check for myotonic dystrophy + MG in parents
What are the causes of floppy infant?
- Central (most common). Due to HIE/cerebral malformation/genetic disorders/acquired from infection or drugs/cerebral palsy/hypothyroidism. CF: abnormal consciousness, seizures, apnoeas, feeding difficulties, reflexes preserved/hyperreflexic, muscle power relatively preserved (but axial weakness), no fasciculations
- Peripheral: due to birth trauma/spinomuscular atrophy/MG/infantile botulism/muscular dystrophies/hereditary neuropathies/IEM. CF: absent/reduced anti-gravity movements, absent postural reflexes, bone/joint deformities, fasciculations
- Acute illnesses can also cause hypotonia
What are the common causes of headache in childhood?
- Migraine (usually without aura, last 1-72h, usually a pulsatile b/l headache over temporal/frontal area, often also GI disturbance/photophobia etc, received by sleep; sometimes get auras)
- Tension type headaches (symmetrical, gradual onset, band/pressure, usually no other sx)
- Uncommon primary types like familial hemiplegic migraine, cyclical vomiting (recurrent stereotyped N+V episodes with pallor + lethargy, well between episodes), abdominal migraine (idiopathic recurrent midline pain in bouts a/w vasomotor symptoms + N+V, child well in between)
- Secondary headaches: medication overuse, H+N trauma, vascular malformations, space occupying lesions (signs of RICP, often change in mood/education, visual field defects, diplopia, CN VI palsy, torticollis, growth failure), infections, hypercapnia, acute sinusitis, emotional distress
How would you assess headache in children?
- History: aura, SQUITARS, triggers (stress, relaxation, food, menstruation), emotional/behavioural problems, head trauma, last eye test, analgesia over-use
- Check red flags for SOL: worse lying down/draining/wakes child up in night [whereas headache on waking common in migraine], confusion, N+V, recent change in personality/school
- Examination: visual acuity, sinus tenderness, pain on chewing (TMJ malocclusion), BP, growth, VF defects, squint, CN palsies, coordination, gait, fundi, cranial bruits
How would you manage headaches in a child?
- reassurance with a specific headache diagnosis + adv not to let control life, medicines make bad spells more bearable
- don’t do ix unless red flags
- rescue: analgesia (paracetamol + NSAIDs), antiemetics (prochlorperazine or cyclising), triptans (e.g. sumatriptan-can use intranasal at start of migraine), physical like cold compress
- prophylaxis: when frequent + intrusive. topiramate (sodium channel blocker), propranolol (CI in asthma), TCAs, acupuncture
- psychosocial support like bullying, exam stress, family illness
What is a seizure and what are the different types?
Paroxysmal abnormality of motor, sensory, autonomic or cognitive function because of transient brain dysfucniton
- Epileptic: excessive hypersynchronous electrical activity
- Syncopal (anoxic)
- Brainstem (hydrocephalic, coning)
- Convulsion: a seizure (epileptic or not) with motor components
- Acute symptomatic epileptic seizures: epileptic seizures provoked by an acute brain injury, but not an epilepsy
What are the causes of seizures?
- Epilepsies: genetic, structural or metabolic (e.g. vascular occlusion, acquired brain damage, SOL, neurocutaneous syndromes like tuberous sclerosis)
- Acute symptomatic seizures: any acute injury like trauma, meningitis, hypoglycaemia/calcaemia/natraemia/magnesaemia, hypernatraemia, toxins
- Febrile seizures
- Non-epileptic seizures: convulsive syncope from heart problem/blue breath holding [expiratory apnoea]/hypovolaemic after haemorrhage/anaphylaxis, a sudden rise in ICP e.g. haemorrhage, sleep disorder (e.g. benign neonatal sleep myoclonus), functional/medically unexplained
Early onset ataxia?
Usually autosomal recessive
Friedreich’s ataxia: a genetic disorder begins in teens with cerebellar ataxia + sensory neuropathy. A/w scoliosis, cardiomyopathy, optic atrophy, areflexia + DM
Other causes include ataxia telangiectasia and vitamin E deficiency
Infantile hydrocephalus
- Arnold Chiari malformation: cerebellar tonsils go into cervical canal, can develop syringomyelia
- Stenosis of the aqueduct of Sylvius: congenital or post meningitis/haemorrhage
- Dandy Walker syndrome: obstruction at 4th ventricle outlet
What are some RF for neural tube defects?
.Folate deficiency, AEDs e..g SV
What are the types of neural tube defects?
- meningoencephalocele: elements of SC+lumbosacral roots within a meningeal sac herniate through a vertebral defect; if severe both LL+sphincters paralysed but can be more minor
- spina bifida: multiple types, failure of lumbosacral NT fusion
- spina bifida occulta: isolated failure of vertebral arch fusion, may have a dimple/hair tuft over anomaly but otherwise usually normal
- meningomyelocele: may occur with spina bifida, meningeal defect alone, close in first 24h of age
DMD + BMD
X-linked recessive inheritance but about 1/3 spontaneous mutations – causes absent (DMD) or low (BMD) levels of dystrophin
DMD usually apparently by age 4, die in 20s, difficulty running, standing up, Gower’s sign, proximal limb weakness with calf pseudo hypertrophy, myocardium becomes affected . CK 100-200x normal, biopsy shows varying muscle fibre size/necrosis/replacement with fat + absence of dystrophin
BMD: less severe, presents as weakness in young adults
Childhood neuropathies?
Charcot-Marie-Tooth disease
Group of hereditary motor + sensory neuropathies. Typically distal limb wasting + weakness that progresses slowly over many years, mostly in legs, variable sensory + reflex losses. Late stage get severe foot drop but still can usually walk, mild cases have pes cavus + toe clawing that can go unnoticed.
Hereditary motor + sensory neuropathy type III
Rare hereditary demyelinating sensory neuropathy – severe incapacity during adolescence. CSF protein very elevated. Nerve roots hypertrophied
How does unilateral spastic CP often present?
Fisting of affected hand, flexed arm, pronated forearm, toe-heel gait (but arms usually worse); may initially be flaccid + hypotonic before hypertonia emerges
A/w LD + seizures
How does bilateral spastic quadriplegic CP present?
Severe spasticity in 4 limbs + trunk often involved (extensor posturing, poor head control, low central tone)
A/w seizures, microcephaly, mod-severe intellectual impairment, MSK issues like scoliosis
Often a h/o HIE
How does bilateral spastic diplegic CP present?
Spasticity in all limbs but legs much worse than arms - walking abnormal (as problem in periventricular area, and the leg motor fibres are closer to the ventricles), walk on toes with scissoring of legs, older child typically crushes
A/w prematurity due to periventricular brain damage
Usually no feeding/communication/cognition issues
Often a/w strabismus
What are the movement disorders possible in dyskinetic CP?
o Chorea – irregular sudden brief non-repetitive movements
o Athetosis – slow writhing movements that occur distally
o Dystonia – simultaneous contraction of agonist + antagonist muscles of trunk/proximal muscles giving a twisting appearance
What is the cause of spastic cerebral palsy?
Damaged UMN pathways (CST), due to antenatal causes, HIE, neonatal stroke
What is the cause of dyskinetic cerebral palsy?
B/L damage to basal ganglia or extra-pyramidal tracts
Kernicterus used to be main cause, now perinatal asphyxia
What is the cause of ataxic/hypotonic cerebral palsy?
Usually genetic, but can be acquired injury to the cerebellum
What are hiccups?
Non-epileptic myoclonic movements of the diaphragm
Tonic clonic seizures
Rigid tonic phase then clonic (rhythmical contraction of muscle groups, irregular breathing, cyanosis, biting of tongue, incontiencne of urine). usually seconds-minutes then unconsciousness/deep sleep for up to several hours
Tonic seizures
Generalised increase in tone
Atonic seizures
Often a myoclonic jerk then transiently lose muscle tone - sudden fall to floor/drop of head
How might the location of a focal seizure be ascertained?
- Frontal: clonic movements travelling proximally (Jacksonian march), may be asymmetrical
- Temporal: aura feeling/smell/taste/distorted sounds or shapes, may cause lip smacking/plucking at clothing/non purposeful walking, deja-vu feelings, may impair consciousness
- Occipital: stereotyped visual hallucinations
- Parietal: contralateral dysaesthesias (altered sensation) or distorted body image
