Diagnostic utility of pediatric epilepsy monitoring unit: Retrospective single center study.

OBJECTIVE: To evaluate drug resistance epilepsy (DRE) patients with persistent seizures after using of standard antiepileptic drugs. This single center study aimed to investigate the utility of Epilepsy Monitoring Unit (EMU) resulted in a definitive diagnosis. METHODS: This was an observational retrospective study in 323 children who were admitted to the EMU for evaluation between 2012 and 2020. RESULTS: Of the 323 patients, 168 (52.01%) were males. The most common referral for EMU were better characterization 91 (28.17%) and pre-surgical evaluation 56 (17.3%). Of the participants, 273 (84.5%) had seizures one to 2 times per day. At discharge, 75.5% of admissions received a definitive diagnosis. CONCLUSION: The EMU admission for pediatric epilepsy patients is very important for early accurate diagnosis and management with surgery for those consider DRE patients.

Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L.

Background. Biallelic pathogenic variants in the FRRS1L gene are now known to cause developmental and epileptic encephalopathy-37 (DEE37). It can also be associated with chorea and continuous spikes and waves during sleep (CSWS). CSWS is a rare age-related epileptic encephalopathy syndrome of childhood that is characterized by seizures, neurocognitive regression and electrical status epilepticus during sleep (ESES) on electroencephalogram (EEG) that evolves in four stages. Seizures start during the prodromal phase but the ESES on EEG appears only during acute stage and this is the stage when the diagnosis of CSWS can be made. Methods. We present two patients with FRRS1L mutation causing DEE37 with CSWS. We also review twenty-nine cases of DEE37 described in the literature before and discuss its association with CSWS in the total cohort of thirty-one cases. Results. Developmental regression was found in 80% of the patients, mean age of seizure onset was 18 months, ESES or slow spike and wave on the EEG were reported mostly in the older patients (median age of 11 years) and hypsarrhythmia was reported in younger patients (median age of 4 years). This could suggest that if the younger patients were followed longer their EEG would have evolved into ESES during the acute stage of this syndrome and a diagnosis of CSWS could be made. Conclusion. Recognizing ESES and the natural evolution of CSWS is important in diagnosis and proper management of these patients. More detailed report of EEG findings and the evolution of epilepsy and development are needed to further characterize this syndrome.

Can apparent diffusion coefficient values help distinguish between different types of pediatric brain tumors?

RATIONALE AND OBJECTIVES: Classifying brain tumors is challenging, but recently developed imaging techniques offer the opportunity for neuroradiologists and neurosurgeons to diagnose, differentiate, and manage different types of brain tumors. Such advances will be reflected in improvements in patients' life expectancy and quality of life. Among the newest techniques, the apparent diffusion coefficient (ADC), which tracks the rate of microscopic water diffusion within tissues, has become a focus of investigation. Recently, ADC has been used as a preoperative diffusion-weighted magnetic resonance imaging (MRI) parameter that facilitates tumor diagnosis and grading. Here, we aimed to determine the ADC cutoff values for pediatric brain tumors (PBTs) categorized according to the World Health Organization (WHO) classification of brain tumors. MATERIALS AND METHODS: We retrospectively reviewed 80 cases, and assessed them based on their MRI-derived ADC. These results were compared with those of WHO classification-based histopathology. RESULTS: Whole-lesion ADC values ranged 0.225-1.240 × 10-3 mm2/s for ependymal tumors, 0.107-1.571 × 10-3 mm2/s for embryonal tumors, 0.1065-2.37801 × 10-3 mm2/s for diffuse astrocytic and oligodendroglial tumors, 0.5220-0.7840 × 10-3 mm2/s for other astrocytic tumors, and 0.1530-0.8160 × 10-3 mm2/s for meningiomas. These findings revealed the usefulness of ADC in the differential diagnosis of PBT, as it was able to discriminate between five types of PBTs. CONCLUSION: The application of an ADC diagnostic criterion would reduce the need for spectroscopic analysis. However, further research is needed to implement ADC in the differential diagnosis of PBT.