Test: Epilepsy- 2 - NEET PG MCQ

Juvenile Myoclonic Epilepsy typically begins in early adolescence.
Clinical characteristics include:

• Myoclonus that occurs bilaterally or can be single, often pronounced in the morning after waking.
• Consciousness remains intact unless the condition is particularly severe.

As these individuals age, they are likely to develop generalised tonic-clonic seizures (GTCS).
There is often a strong family history indicating polygenic inheritance.
Treatment options include:

• First line: Valproate, lamotrigine, or topiramate.
• Second line: Clonazepam or felbamate.

Lacosamide

• Lacosamide resulted in the aggravation of tonic seizures and altered electroencephalographic patterns.

Vigabatrin

• Vigabatrin received approval from the US Food and Drug Administration (FDA) in 2009 as a monotherapy for infants with infantile spasms aged between 1 month and 2 years.
• It is also indicated as an adjunctive treatment for adults suffering from refractory complex partial seizures.

Rufinamide

• This antiepileptic medication is structurally distinct from existing antiepileptics.
• Rufinamide influences sodium channel function, specifically by extending the inactive state of the channel.
• It significantly delays sodium channel recovery and restricts the sustained repetitive firing of sodium-dependent action potentials.
• In 2008, the FDA approved this drug for use as adjunctive therapy in children aged 4 years and older experiencing seizures related to LGS.

Zonisamide

• This medication is not recommended for individuals under 16 years of age.

Clobazam

• Clobazam is the most recent drug introduced for L.G.5, which was launched in 2012.

Juvenile myoclonic epilepsy is a common type of idiopathic generalized epilepsy that is typically and effectively managed with valproate monotherapy. Nonetheless, this condition is frequently misdiagnosed, and medications such as carbamazepine and phenytoin can exacerbate the situation. Therefore, options a and b are excluded. In utero exposure to valproate has consistently been associated with the highest likelihood of congenital malformations and negative cognitive effects, including autism, when compared to other antiepileptic drugs (AEDs). In utero exposure to lamotrigine, carbamazepine, phenytoin, and levetiracetam has been studied in large cohorts of offspring, revealing that all these AEDs carry a low risk of significant congenital malformations, approximately 2.5%.

Harrison clearly states that urinary incontinence occurs with both conditions.

• Injury from a fall can happen in either case.
• Unconsciousness will arise in both situations, although the length of unconsciousness differs, as does the recovery time. 

Etiology Hypothalamic hamartomas are the most prevalent brain lesions that lead to true precocious puberty by disrupting the pathways that normally restrain puberty.

Clinical Manifestations

• Rapidly advancing sexual precocity in very young children.
• Signs or symptoms associated with the hypothalamus, such as diabetes insipidus, adipsia, hyperthermia, inappropriate laughing or crying (gelastic seizures), obesity, and cachexia, should raise suspicion of an intracranial lesion.

Treatment

• For patients with hypothalamic hamartoma and intractable gelastic or psychomotor seizures, stereotactic radiation therapy (gamma knife surgery) is effective and carries less risk compared to neurosurgical procedures.
• Treatment using GnRH agonists is equally effective for children with organic brain lesions causing central precocious puberty as it is for those with idiopathic sexual precocity; these analogues are the preferred treatment to stop premature sexual development.

Hyponatremia is the most prevalent electrolyte imbalance found in hospitalised patients, with levels below 120 mEq/dl potentially causing cerebral oedema and subsequent seizures. It is characterised by a plasma Na⁺ concentration of less than 135 mm and is a frequent issue, affecting as many as 22% of those in hospital.

• This condition typically results from elevated circulating AVP and/or heightened renal sensitivity to AVP.
• It may also occur alongside excessive intake of free water.
• A notable exception is hyponatremia caused by insufficient solute intake.

Lafora's disease is a progressive myoclonic epilepsy characterised by autosomal recessive inheritance. It typically begins between the ages of 6 and 19 years and often results in death within a decade.
This condition involves brain degeneration linked to the presence of polyglucosan intracellular inclusion bodies in various organs. The preferred method for investigation is DNA sequencing, which reveals abnormalities in the EPM2A and EPM2B genes.

• Additionally, Lafora bodies can be identified in the apocrine sweat glands through an axillary skin biopsy examination.

In terms of management, Zonisamide has demonstrated positive outcomes; however, the textbook does not specify it as the drug of choice.

Lennox-Gastaut syndrome manifests in children and is characterised by the following triad:

• Various seizure types, typically including generalized tonic-clonic, atonic, and atypical absence seizures;
• EEG displaying slow (3 Hz) spike-and-wave discharges alongside other abnormalities;
• Cognitive function impairment in most, though not all, instances.

In many cases, Lennox-Gastaut syndrome is linked to CNS disease or dysfunction due to various factors, such as:

• Developmental abnormalities;
• Perinatal hypoxia/ischemia;
• Trauma;
• Infection;
• Other acquired lesions.

The most recent treatments include Rufinamide and Clobazam. In pre-terminal EEG recordings, the periodic discharges appear as diphasic or triphasic sharp waves, repeating regularly at a frequency close to one per second. There is a notable dose relationship between the periodic complexes and myoclonic jerks, which may occur a few milliseconds before or after the electrical event.

High amplitude waves and spikes are present, randomly appearing and with no topographical distribution identified; also, there is no frequency nor amplitude gradient, indicating a highly disorganized brain activity and seen in INFANTILE SPASMS.

Periodic Lateralizing Epileptiform Discharges (PLEDs), are strongly suggestive of Herpes simplex encephalitis 4 In sporadic CJD (sCJD), the EEG exhibits characteristic changes depending on the stage of the disease, ranging from nonspecific findings such as diffuse slowing and frontal rhythmic delta activity (FIRDA) in early stages to disease-typical periodic sharp wave complexes (PSWC) in middle and late stages to a reactive coma traces or even alpha coma in pre-terminal EEG recordings. The periodic discharges take the form of diphasic or triphasic sharp waves, which repeat regularly at a frequency close to one per second. There is a fairly close relationship between the periodic complexes and myoclonic jerks; the latter may occur a few milliseconds before or after the electrical event.

Atypical febrile seizures are linked to postictal deficits. Additionally, there is a significant occurrence of positive family histories, and these individuals may later develop complex partial seizures. Within this group, some patients exhibit mesial temporal sclerosis near the hippocampus, which can be treated surgically.

Pyknolepsy refers to a patient experiencing frequent episodes of petit mal or absence seizures. It should be managed in a manner similar to status epilepticus in cases of petit mal seizures.

Majority of patients do not require anticonvulsant therapy; however, when it is necessary, the preferred medication is valproate as a standalone treatment. Clobazam may serve as a beneficial adjunct. Alternatives such as lamotrigine, topiramate, and levetiracetam have also been suggested as potential second options. The most effective approach is to avoid the triggering stimulus, which can be challenging if the actual trigger remains unidentified. Parents of children experiencing television-induced seizures should ensure that they maintain a distance of at least 2 metres from the screen and refrain from approaching it to switch or adjust the controls.

Benign childhood epilepsy with centrotemporal spikes typically manifests in children aged 2 to 13 years. The seizures:

• Occur during sleep
• Are focal in nature

This condition usually resolves by adolescence. An inter-ictal EEG reveals spikes over the centrotemporal or Rolandic regions.