PIGN encephalopathy: Characterizing the epileptology.

OBJECTIVE: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. METHODS: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment. Seizure and epilepsy types were classified. RESULTS: Twenty six patients (13 female) from 26 families were identified, with mean age 7 years (range = 1 month to 21 years; three deceased). Abnormal development at seizure onset was present in 25 of 26. Developmental outcome was most frequently profound (14/26) or severe (11/26). Patients presented with focal motor (12/26), unknown onset motor (5/26), focal impaired awareness (1/26), absence (2/26), myoclonic (2/26), myoclonic-atonic (1/26), and generalized tonic-clonic (2/26) seizures. Twenty of 26 were classified as developmental and epileptic encephalopathy (DEE): 55% (11/20) focal DEE, 30% (6/20) generalized DEE, and 15% (3/20) combined DEE. Six had intellectual disability and epilepsy (ID+E): two generalized and four focal epilepsy. Mean age at seizure onset was 13 months (birth to 10 years), with a lower mean onset in DEE (7 months) compared with ID+E (33 months). Patients with DEE had drug-resistant epilepsy, compared to 4/6 ID+E patients, who were seizure-free. Hyperkinetic movement disorder occurred in 13 of 26 patients. Twenty-seven of 34 variants were novel. Variants were truncating (n = 7), intronic and predicted to affect splicing (n = 7), and missense or inframe indels (n = 20, of which 11 were predicted to affect splicing). Seven variants were recurrent, including p.Leu311Trp in 10 unrelated patients, nine with generalized seizures, accounting for nine of the 11 patients in this cohort with generalized seizures. SIGNIFICANCE: PIGN encephalopathy is a complex autosomal recessive disorder associated with a wide spectrum of epilepsy phenotypes, typically with substantial profound to severe developmental impairment.

Taste dysfunction after COVID-19: Analysis with functional near-infrared spectroscopy.

<br><b>Introduction:</b> According to official data, COVID-19 emerged in China in December 2019 and has spread worldwide since then.</br> <br><b>Aim:</b> The aim of this study was to investigate differences in functional near-infrared spectroscopy (fNIRS) recordings between convalescent COVID-19 patients and a healthy control group, which could help to clarify the pathomechanism of dysgeusia in COVID-19.</br> <br><b>Material and methods:</b> The study included 16 participants, comprised of 8 convalescent COVID-19 patients and 8 healthy controls. All participants were examined with fNIRS. The amplitude of changes in oxyhemoglobin (oxyHb) concentration in the cerebral cortex was analyzed statistically (for the test and control groups after stimulation with a taste stimulus - citric acid solution).</br> <br><b>Results:</b> The differences in the amplitude of changes in oxyHb concentration in the cerebral cortex were not statistically significant between the groups. Discussion: Using fNIRS, a strong stimulation of the visual cortex was discovered in response to the taste stimulus, consisting of large, repetitive changes in oxyHb concentration occurring in parallel with stimulation of areas of the taste cortex. This phenomenon has not, to our knowledge, been described previously in the scientific literature. The exact location of the primary taste cortex is controversial, but to date the occipital cortex has not been considered to be involved.</br> <br><b>Conclusions: No difference was observed in the dynamics of changes in oxyHb in the examined areas of the cerebral cortex between convalescent COVID-19 patients and healthy controls. However, the determination of the role of the occipital cortex in the perception of taste requires further research.</br>.

Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.

We report on the first Polish patient diagnosed with the Aicardi-Goutières syndrome 5 (AGS5). AGS is caused by mutations in one of 9 genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH, LSM11, RNU7-1) which stimulate the type I interferon response. The diagnosis was confirmed by identifying a compound heterozygous mutation p.(Phe165Ser)/p.(Gln235*) in the SAMHD1 gene using whole-exome sequencing. The cystic lesions in the temporal lobes are an uncommon finding in the presented patient carrying a SAMHD1 mutation. Reporting new cases expands the range of phenotypes and plays the crucial role in understanding the AGS pathogenesis and creates new therapy approaches.

Nursing Care During Neonatal Electroencephalographs.

BACKGROUND: Electroencephalography (EEG) enables the precise evaluation of a neonate's condition. Three factors that determine the quality of care during this procedure are knowledge, experience, and attitude. The role of the nurse during EEG recordings was evaluated in this study, and the requirements for successfully performing neonatal EEGs, along with practical suggestions, are presented. METHODS: Evidence in the literature as well as clinical expertise forms the basis for this review. RESULTS: From our observations and practice during EEGs, we found that the following conditions must be met to successfully perform an EEG examination in a newborn: safety, a period of sleep and calm wakefulness of the neonate, good technical conditions, and no external interferences. Key conditions include the maintenance of safety rules and cooperation between nurses, EEG technicians, and parents. CONCLUSION: The EEG examinations in neonates weighing less than 1500 g or those requiring respiratory support should only be performed by a trained neonatal intensive care unit nurse.