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DRUG RESISTANT EPILEPTIC ENCEPHALOPATHY WITH LATE-
ONSET SPASMS
Samadov Furkatjon Nosibjanovich
Vagizova Madina Bahtiyarovna
Sattorov Salohiddin Shuhratjon o'g'li
National Children’s Medical Center, Tashkent, Uzbekistan
E-mail: furkat.samadov@gmail.com
https://doi.org/10.5281/zenodo.13789112
Introduction.
Developmental and epileptic encephalopathy (DEE) is a
term used to describe cerebral dysfunction resulting from the underlying cause,
epilepsy, or both. There is a subset of DEEs in which there is compelling
evidence that the regression is directly tied to the epilepsy itself, where the
“epileptic encephalopathy” component of DEE is most evident. Infantile epileptic
spasm syndrome (IESS) is perhaps the clearest example.
Throughout the past, several decades scattered publications have noted,
however, that there are patients that present with apparent epileptic
encephalopathies associated with spasms and other seizures in between the
common ages of presentation for IESS and LGS. For this, a separate condition has
been proposed with various names including “Late-onset Infantile Spams,”
“Infantile Epileptic Encephalopathy with Late-onset Spasms,” and “Late Infantile
Epileptic Encephalopathy.” There are differences in the nuances of the
descriptions, but common features are onset of spasms, spasm–tonic, and
myoclonic–tonic seizures beyond the first year of life with a lack of obvious
prenatal or perinatal causes in many cases.
Some DEE syndromes could be considered likely epileptic
encephalopathies
including
early
infantile
developmental
epileptic
encephalopathy (EIDEE), infantile epileptic spasm syndrome (IESS), and
Lennox–Gastaut syndrome (LGS). However, within the spectrum of DEE exists a
distinct syndrome which has been variously described as “late-onset infantile
spasms,” “cryptogenic late-onset epileptic spasms,” “infantile epileptic
encephalopathy with late-onset spasms,” and “late infantile epileptic
encephalopathy (LIEE).
Purpose:
This study aimed to analyze patients with proto-typical features
of these patients in order to evaluate the prevalence, demography, and specific
clinical and electrographic characteristics. In this paper, we use the term late
infantile epileptic encephalopathy (LIEE) to de-scribe these patients, although
the precise title is not of paramount importance.
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After the first year of life, epileptic spasms known as late-onset spasms
(LOS) occur. Our objective was to evaluate the electroclinical characteristics and
follow-up of patients experiencing this specific kind of epileptic seizure.
Methods:
Between 2020 and 2024, we retrospectively included all
patients whose LOS was verified by electroencephalography. At diagnosis and
during follow-up, clinical and electroencephalographic results were gathered.
The neuropsychological result was assessed using the Vineland scale.
Results:
Out of 211 patients with documented epileptic spasms, we
describe 11 patients with LOS. With late-onset spasms, eleven patients suffered
from epileptic encephalopathy. A localized or widespread discharge of triphasic
slow waves, slow spikes, or slow spikes waves with fast activity was observed
on the ictal electroencephalography (EEG). In the absence of hypsarhythmia, the
interictal EEG typically displayed low spike waves or focused or widespread
slow waves. Of the patients, only two had managed LOS. Six experienced a
severe epileptic encephalopathy, and three acquired the classic Lennox-Gastaut
syndrome. Eleven patients had their neuropsychological outcomes assessed
using the Vineland scale. Of the 11 patients, 10 had mild to severe cognitive
delay, and only one had normal cognitive skills.
Conclusion:
After the age of one, epileptic spasms may manifest. Patients
who suffer from epileptic encephalopathy are more likely to experience these. A
small number of people experienced this kind of seizure prior to meeting the
criteria for Lennox-Gastaut syndrome. We identified focal epilepsy in one
patient, who had cluster seizures. Refractory epilepsy and severe cognitive
outcomes unrelated to the etiology appear to be associated with epileptic
syndromes when LOS are associated with an epileptic encephalopathy.
This study has some limitations, such as the relatively small sample size and
short data collection period. Additionally, developmental status and seizures
outside of those observed during EEGs were based on parent and guardian
descriptions. While the developmental status reported in this study reflects the
baseline at the onset of LIEE, it would be advantageous to also characterize the
developmental status at the onset of epilepsy, considering the nature of
developmental and epileptic encephalopathies. Future studies on LIEE would
benefit from a larger sample size and a multicenter prospective design to assess
its etiology, presenting seizure type(s), electroclinical features, and treatment
options
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