Table 1 Summary of Patient’s Condition at Different Stages

1 Month

Neurological evaluation showed axial and appendicular hypotonia, absent reflexes, and extensive areas of diffusion restriction in frontal, occipital, and anterior temporal regions. Suspected inherited metabolic disease.

Cytotoxic edema in frontal lobes, loss of differentiation between white and gray matter, and alterations in basal nucleus regions (Fig. 1a-d).

Clinical Therapies: Topiramate, clonazepam.

EEG results: At two months, multifocal epileptiform activity with alternating sharp and delta waves and a burst suppression pattern occurred predominantly in the bilateral parasagittal frontal region.

Diagnostic Tests: Metabolic study, genetics study, Bayley scale

Bayley Scale Results: Cognitive 0.1 percentile, Language \(< 0.1\) percentile

18 Months

Patient presented with esotropia, axial dystonia, spastic hemiparesis predominantly on the right, and continued cognitive and motor impairment.

Extensive multicystic encephalomalacia in semioval centers, volume loss in insula lobes and occipital poles, and thinning of the corpus callosum (Fig. 1f-h).

Clinical Therapies: Phenobarbital, vigabatrin, lacosamide, levetiracetam.

EEG results: Continuous 24-hour video telemetry revealed asymmetrical slow theta/delta waves, primarily in the right cerebral hemisphere. Burst-suppression pattern with spike-and-slow-wave complexes and frequent epileptiform activity in the left posterior and front-central regions.

Bayley Scale Results: Cognitive 2 months 10 days, Expressive Language 2 months 20 days

39 Months

Patient had axial hypotonia, spastic quadriparesis, generalized hyperreflexia, and limited hip abduction. Guttural sounds and low comprehension language.

Evidence of cortical and periventricular volume loss, multicystic encephalomalacia with subcortical cysts, and subcortical cysts in the frontal lobes (Fig. 1k-o).

Clinical Therapies: Phenobarbital, vigabatrin, lacosamide, levetiracetam, vagal stimulation therapy, initiation of physical, functional, and speech therapy.

EEG results: Continuous 24-hour video-EEG telemetry reveals frequent interictal epileptiform activity in spikes, poly-spikes, and high-voltage sharp waves. This activity was asynchronous, independent, and primarily localized in the bilateral temporo-parieto-occipital regions with a left occipital predominance..

Bayley Scale Results: Cognitive 2 months 10 days, Expressive Language 2 months 20 days