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Epilepsy Definition, types & their Pathogenesis.

Epilepsy is a recurrent tendency to spontaneous, intermittent, abnormal


electrical activity in part of the brain, manifest as seizures. Convulsions are the
motor signs of the electrical charges.
Elements of a seizure:
Prodrome: lasting hours/days may rarely precede the seizure may just be a
mood change
Aura: part of the seizure and may precede other mainfestations de ja vu,
strange smells, flashing lights. It implies a partial (focal) seizure often (not
always) from temporal lobe.
Post-ictal: headache, confusion, myalgia, sore tongue, temporary weakness or
dysphagia.
Causes: 2/3 idiopathic (often familial). It may also be structural (cortical scarring
head injury; developmental; space-occupying lesion; stroke; vascular
malformations) or other like sarcoid, SLE, PAN.
Classification:
Partial seizures focal onset with features referable to a part of one
hemisphere & is often seen with underlying structural disease
Simple partial seizure: Awareness is unimpaired, with focal motor, sensory
(olfactory, visual etc), autonomic or psychic symptoms. No post-ictal symptoms.
Complex partial seizures: Awareness is impaired. May have a simple partial
onset (=aura), or impaired awareness at onset. Most commonly arise from
temporal lobe. Post-ictal confusion is common in those arising from temporal
lobe, whereas recovery is rapid after seizures in frontal lobe.
Primary generalized seizures simultaneous onset of electrical discharge
throughout cortex, with no localising features referable to only one hemisphere.
Absence seizures: Brief (<10sec) pauses that presents in childhood
Tonic-clonic seizures: LOC. Limbs stiffen (tonic), then jerk (clonic). May have
one without the other. Post-ictal confusion and drowsiness.
Myoclonic seizures: Sudden jerk of a limb, face or trunk. The patient may be
thrown suddenly to ground.
Atonic (akinetic) seizures: Sudden loss of muscle tone causing a fall, no LOC.
Infantile spasms: Commonly associated with tuberous sclerosis.
Pathogenesis Largely unknown but some gene mutations of genes that code
for protein subunits of voltage gated and ligand gated ion channels have been
associated.
One speculated mechanism for some forms of inherited epilepsy are mutations
of the genes that code for sodium channel proteins; these defective sodium
channels stay open for too long, thus making the neuron hyper-excitable.
Glutamate, an excitatory neurotransmitter, may, therefore, be released from
these neurons in large amounts, which by binding with nearby glutamatergic
neurons triggers excessive calcium (Ca2+) release in these post-synaptic cells.
Such excessive calcium release can be neurotoxic to the affected cell. The
hippocampus, which contains a large volume of just such glutamatergic neurons
(and NMDA receptors, which are permeable to Ca2+ entry after binding of both

glutamate and glycine), is especially vulnerable to epileptic seizure, subsequent


spread of excitation, and possible neuronal death. Another possible mechanism
involves mutations leading to ineffective GABA action. Epilepsy-related mutations
in some non-ion channel genes have also been identified.

Space-occupying Lesions

Usually due to malignancy but it can be caused by other pathology such as an


abscess or a haematoma. Almost half of intracerebral tumours are primary but
the rest have originated outside the CNS and are metastases.
The effect of the tumour may be local, due to focal brain damage and the
presentation may give an indication of the location of the lesion but not its
aetiology. There may be more general symptoms related to raised intracranial
pressure or seizures, behavioural changes, or false localising signs. Large lesions
in some regions, such as the frontal lobe, may be relatively silent whilst a small
lesion in the dominant hemisphere may devastate speech.
A tumour may infiltrate and destroy important structures, it may obstruct the
flow of cerebrospinal fluid (CSP) and cause hydrocephalus or it can induce
angiogenesis (new blood vessels) and break down the blood brain barrier,
causing oedema.
Causes of space occupying lesions
Malignancy
Metastases, gliomas, meningiomas, pituitary adenomas, and acoustic
neuromas account for 95% of all brain tumours.
In adults, two thirds of primary brain tumours are supratentorial, but in
children, two thirds of brain tumours are infratentorial.
Primary cerebral tumours include astrocytomas, glioblastoma multiforme,
oligodendrogliomas and ependymomas. See also the separate articles on
Brain Tumours in Children and Brain Tumours in Adults.
Primary brain tumours do not usually metastasise.
About 30% of brain tumours are metastatic and of these about 50% are
multiple. About 15-20% of people with metastatic cancer develop cerebral
metastases. See also the separate articles on Carcinomatosis and
Malignancy of Unknown Origin.
The most common primary is lung cancer followed by breast cancer,
carcinoma of the colon and malignant melanoma.
Other space-occupying lesions
A haematoma may follow a head injury. Risk factors include old age and
anticoagulation.
Hydrocephalus.
Cerebral abscesses are uncommon but risk factors include COPD that may
be a source of infection to the systemic circulation and a right-to-left shunt
that permits infection to bypass the lungs that would normally filter it out.
Cerebral abscesses are multiple in 25% of cases.
Cysts that may occur in the brain include arachnoid cysts (in the
subarachnoid space), colloid cysts, dermoid cysts and epidermoid cysts.
Cerebral amoebiasis and cysticercosis are rare.
Both infection and lymphomas of the CNS are more common with HIV
infection.
Granuloma and tuberculoma can occur.
Presentations

Presenting features may include localising signs, generalised signs and false
localising signs. A rapid onset of symptoms suggests a cerebrovascular lesion
whilst a space-occupying lesion of the brain will usually be more gradual.
However, a space-occupying lesion of the brain can mimic a stroke.
Features of a headache indicating a high risk of a space-occupying lesion of the
brain or idiopathic intracranial hypertension include:
A new headache with features suggestive of raised intracranial pressure,
including papilloedema, vomiting, posture-related headache, or headache
waking the patient from sleep.
A new headache with focal neurological symptoms, or non-focal
neurological symptoms such as blackout, and change in personality or
memory.
An unexplained headache that becomes progressively severe.
An unexplained headache in anyone previously diagnosed with cancer or
HIV.
A new onset of epileptic seizures.
Generalised symptoms and signs
Many of these features may be due to raised intracranial pressure.

Headache:
o The classic brain tumour headache (eg, worst in the morning and
worse on bending or Valsalva manoeuvre) is not as common as a
tension-type presentation or migraine.
o A change in the pattern or frequency of headaches is a cause for
concern.
o Headache is more common in posterior fossa tumours and rapidly
growing tumours.
Vomiting may occur. This may be without accompanying nausea.
Nausea may be a feature.
A change in mental status or behavioural change is a cause for concern.
There may be weakness, ataxia or disturbance of gait.
Even deficits of speech or vision may be poorly localising signs.
There may be generalised convulsions.

Febrile Infection-related Epilepsy Syndrome (FIRES)

Explosive-onset, potentially fatal acute epileptic encephalopathy that develops in


previously healthy children and adolescents following the onset of a non-specific
febrile illness.
Causes
At present the etiology is unknown. An infection-related pathogenesis is
suspected but no direct causes have been established. There may be a genetic
etiology for the disease, as seen in Dravet syndrome, but as yet, no causative
genes have been identified. An immune basis for FIRES has also been speculated
as certain autoimmune antibodies (such as VGKC, anti-GAD and anti GluR-3)
have been found to be elevated in some patients. However, most FIRES patients
are mainly autoantibody-negative and immunotherapy-resistant. A metabolic
disorder (e.g. mitochondrial encephalopathy) is being discussed as a possible
etiological factor.
Clinical Presentations
The median age at the onset of FIRES was 8 years (range 217 years). The
disease was febrile in 96% of the patients and consisted mainly of upper
respiratory tract infection and, to a lesser extent, gastroenteritis. The fever
preceded the onset of seizures with a median duration of 4 days. Shortly after
the onset of seizures, often <24h, te seizures rapidly exacerbated into either
status epilepticus or became frequents, with LOC between the attacks.
Pathogenesis
The pathogenesis underlying the cascade leading to such severe epilepsy is still
confusing. The typical evolution of FIRES following a nonexceptional febrile event
in the presence of pleocytosis in the CSF of most patients could be suggestive for
encephalitis. A thorough and extensive investigation for possible infectious
agents, however, failed to identify any pathogen in the current series of patients.

Epilepsy in Subarachnoid Haemorrhage


Around 1 in 20 of people who have had a subarachnoid haemorrhage develop
epilepsy. Epilepsy is a condition where the normal working of the brain is
interrupted, causing a person to have repeated fits or seizures. There are
different types of seizure and symptoms can vary. You may lose consciousness,
have muscle contractions (your arms and legs may twitch and jerk) or your body
may shake or become stiff. Seizures usually last between a few seconds and
several minutes. Brain activity then returns to normal. In most cases of epilepsy
following a subarachnoid haemorrhage, the first seizure occurs within the first
year after the haemorrhage. Epilepsy can be treated using anti-epileptic
medicines, such as phenytoin or carbamazepine.

Risk factors for further seizures if patient already has epilepsy


-tired/alcohol/stress
1. Age
Most of the literature is divided into paediatric and adult studies. As such,
it is difficult to assess the difference, if any, between childhood and adultonset seizures within a single study. In the 2 large randomised trials, a
small effect was found for age in that children (<16 years) had a slightly
higher risk of recurrence compared with adults (16-60 years) (First Seizure
trial Group, 1993). The risk in this age group is almost double the risk of
recurrent seizures in adolescents and adults aged 16-60 years
2. Remote symptomatic seizure
In the case of seizures after a first stroke, lesion location and stroke
subtype are strong predictors of early seizure risk, and early seizures are a
predictor of recurrent seizures.
3. Seizures occurring between midnight and 8:59 am (Bora et. al.,
1995)
4. Previous provoked seizures
5. Previous febrile seizure (Pohlmann-Eden et. al., 2006)
6. Family history of epilepsy (Pohlmann-Eden et. al., 2006)
7. Status epilepticus or multiple seizures witin 24 hours as the initial
remote symptomatic seizure
8. Partial seizures (Annegers et. al., 1986)
9. Todd paralysis in patients with a remote symptomatic seizure
10.
History of neurologic deficit from birth, such as cerebral
palsy or mental retardation
11.
Abnormal examination findings in patients without a remote
symptomatic seizure
12.

Computed tomography (CT) scan that shows a brain tumor

13.
Electroencephalogram (EEG) that shows epileptiform
discharges
Epileptiform discharges were associated with a 1.5- to 3-fold
increase in the risk of seizure recurrence
A generalized spike and wave on EEG increased the risk of recurrent
seizure in patients with no known etiology

An abnormal EEG finding and the presence of an underlying etiology


(remote symptomatic) are the most consistent predictors of
recurrence