DIAGNOSIS AND EVALUATION

Epilepsy is defined as two or more unprovoked seizures separated by at least 24

hours. The diagnosis of epilepsy starts with the clinical history and physical examination. A
detailed description of the event is crucial. The history should include mention of the
presence or absence of an aura, the child’s responsiveness during the event, and postictal
changes, including altered mental status and transient focal neurological impairments. For
example, a tongue bite and urinary or bowel incontinence during the episode suggests a
seizure as a cause of the episode. Acute seizure precipitants should also be explored,
including infection, trauma, and drugs (illicit or accidental ingestion).

The history helps to distinguish seizures from seizure mimics and assists in
classification of seizure type. For example, an infant or young child who turns blue or pale
and loses consciousness after being upset or hurt likely has a breath-holding spell rather than
a seizure. The presence of an aura or a brief one-sided weakness following the convulsion
suggests a partial (focal) seizure. In children who present with a generalized tonic-clonic
convulsion, an initial rapid head turn or eye deviation to one side may suggest a partial
seizure, with the epileptogenic focus in the contralateral (opposite side from the head turn)
hemisphere. A staring spell that lasts for a minute or more followed by postictal altered
mental status (e.g., confusion, lethargy) points to a complex partial seizure. On the other
hand, brief staring spells lasting a few seconds with return to full consciousness immediately
afterwards suggests an absence seizure. Staring, however, could also be a manifestation of
non-epileptic events like daydreaming and inattention. About half of non-epileptic events
captured on EEG monitoring are staring episodes (Uldall, Alving, Hansen, Kibæk, &
Buchholt, 2006).

The physical and neurological examination may identify an acute illness or a remote
neurologic disorder. Attention should be paid to head circumference, skin exam (e.g., caféau-
lait spots), and focal neurological impairments (e.g., weakness on one side, as in Todd’s
paralysis). Routinely performed laboratory tests such as complete blood count, electrolytes,
glucose, and toxin screen are not helpful in a well child who has recovered from a brief
seizure. However, electrolytes should be determined in children younger than 2 years to
check for sodium, calcium, and glucose levels. Glucose should be checked in all children in
status epilepticus and in those who have a history of seizures with fasting. Physicians need to
individualize such tests to the specific clinical context (Hirtz et al., 2000). Similarly, lumbar
puncture (spinal tap) should be reserved for febrile individuals or those with prolonged
altered consciousness or in whom meningitis or encephalitis is a concern (Hirtz et al., 2000).
A lumbar puncture, chemical panel, metabolic tests for inborn errors of metabolism (e.g.,
plasma amino acids, urine organic acids, lactate, pyruvate), imaging (computed tomography
[CT]/magnetic resonance imaging [MRI]), and an EEG should be considered in children with
continuing neurological impairment after a seizure.

Electroencephalogram

A sleep-deprived EEG is indicated in the workup of all children suspected of having

seizures. To perform the EEG, recording electrodes (approximately 20) are placed on the
scalp at set points over the frontal, central, parietal, temporal, and occipital regions
bilaterally. These electrodes record voltage changes from the cortex below. The EEG displays
electrical potential differences between neighboring electrodes, or an electrode and a
reference point. The EEG provides information regarding 1) background electrical activity
(e.g., generalized or focal slowing, which suggests diffuse or focal cerebral dysfunction,
respectively), 2) the presence or absence of epileptic discharges (e.g., sharp waves or spike
and wave discharges indicating cortical hyperexcitability), and 3) response to seizure-
activating procedures (e.g., hyperventilation, photic stimulation, sleep deprivation). The EEG
should be recorded during wakefulness and light sleep. Light sleep tends to activate
epileptiform discharges and increases the yield of the EEG.

The EEG findings along with the clinical data will help to establish the diagnosis of
the specific seizure type. For instance, the finding of 3 Hz generalized spike and wave
discharges activated by hyperventilation is diagnostic of absence epilepsy (Figure 27.1).
Centrotemporal spike and wave discharges activated in sleep suggest BRE (Figure 27.3). The
EEG may also provide prognostic information. In children with a first unprovoked seizure
and normal neurologic examination, the seizure recurrence risk is higher if the EEG is
abnormal (Shinnar et al., 1996). In situations in which the nature of the events is unclear,
continuous video EEG monitoring for 23 hours or longer may be needed to capture and
characterize the events. Continuous video EEG is also required as part of the evaluation in
children for whom epilepsy surgery is being considered.
Neuroimaging

Brain imaging with MRI is essential to identify structural lesions that cause seizures.
In some epilepsy syndromes (BRE, childhood or juvenile absence epilepsy, and JME), the
likelihood of a structural lesion is low, and routine neuroimaging is not indicated unless
atypical features are present or the clinical course is unusual. In all other children with
recently diagnosed localization-related (partial or focal) epilepsies or generalized epilepsies,
neuroimaging is recommended (Gaillard et al., 2009; Hsieh et al., 2010). Neuroimaging
should also be done in any child younger than 2 years of age with seizures that are other than
benign febrile convulsions. The preferred imaging modality is brain MRI because of its
higher yield and better anatomic detail than CT scan (Gaillard et al., 2009). Head CT is
usually performed in the emergency department setting and may identify tumors, bleeding,
and calcifications.

Functional neuroimaging studies are used to identify the location of the seizure focus
when epilepsy surgery is considered and the MRI is normal. FDG-PET (a type of positron
emission tomography [PET] that uses fluorodeoxyglucose [FDG], an analog of glucose)
assesses interictal brain metabolism. A seizure focus tends to have low metabolism between
seizures. A related technique, SPECT (single photon emission computed tomography),
assesses blood flow to the brain and may identify the seizure focus. MEG
(magnetoencephalography) helps in localization of the epileptiform discharges or spikes.
Functional MRI is used to identify noninvasively eloquent (language) and sensory/motor
areas to be spared during epilepsy (O’Shaughnessy, Berl, Moore, & Gaillard, 2008).
Magnetic resonance spectroscopy (MRS), which can be performed during an MRI scan,
assesses the concentration of some chemicals (e.g., N-acetylaspartic acid, choline, creatine,
lactate) in specific brain regions and i helpful in the workup of certain metabolic disorders
(e.g., abnormal lactate peak may be seen in mitochondrial disorders).