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To provide a basis for genetic counseling and clinical precision therapy by exploring the genetic etiology of a child with recurrent hypoglycemia convulsion accompanied by language retardation.Peripheral blood samples were obtained from the proband, his sister and his parents. Whole genomic DNA was extracted and analyzed by the whole exon gene sequencing and confirmed by Sanger sequencing.The proband and his sister were found to carry compound heterozygous variants c.731TA (p.M244L) and c.928GA (p.G244S) of the GYS2 gene, which had not been reported in the past, the c.731TA (p.M244L) site was derived from the maternal heterozygous mutation, while c.928GA (p.G244S) site from the father heterozygous mutation.The compound heterozygous variants c.731TA (p.M244L) and c.928GA (p.G244S) of the GYS2 gene were the genetic cause of glycogen storage syndrome type 0 in children, providing basis for family genetic counseling. When the patient had Hypoglycemia often accompanied with convulsions, which was easy to be misdiagnosed as seizures, and the antiepileptic treatment was ineffective. After genetic diagnosis, the seizure can be controlled by improving diet to maintain blood glucose stability.

To evaluate the effects of electrical status epilepticus during sleep (ESES) on cerebral blood flow (CBF) and explore the associated neuro-vascular coupling and neuropsychological deficits. 19 ESES patients were recruited to undergo real-time transcranial doppler ultrasonography (TCD) and video-EEG monitoring (vEEG). Patients were grouped based on their cognitive functions or their EEG patterns. The mean cerebral blood flow velocity (CBFVm) of the unilateral middle cerebral artery was measured using TCD and was used to calculate various relevant parameters. The 19 patients participated in a total of 54 effective TCD-vEEG monitoring sessions. We found a significant effect of clinical severity for the following measurements: spike wave index (SWI), peak and average deep sleep stage (N3) CBFVm, peak, average and minimum deep sleep and awake CBFVm, and CBFVm oscillations during deep sleep. Nevertheless, CBFVm oscillations were not related to SWI. Furthermore, CBFVm oscillations revealed a statistically significant difference between the near-ESES and asymmetric-ESES groups. CBFVm oscillations may reflect the neuro-vascular coupling process associated with ESES disfunction. Understanding the relationship between CBFVm oscillations and epileptic activity will be important for assessing the neuropsychological damage associated with ESES and for developing treatment options for this and other diseases.

Objective To study the clinical features of children diagnosed with anti-NMDAR encephalitis in southern China. Methods Clinical data of children diagnosed with anti-NMDAR encephalitis from October 2014 to June 2020 from one national regional medical center were analyzed. Neurological disability was assessed by modified Rankin Scale (mRS) throughout the course of disease. Results 111 children (M/F = 49/62; mean onset age = 6.8 y) with anti-NMDAR encephalitis were involved. Prodromal events occurred in 34.2% of patients with infectious events being the most common. Seizure was the most common initial symptom, though movement disorder served as the most common event throughout the course of disease. 9.9% of patients had overlapped with other neuronal autoantibodies. Electroencephalogram showed abnormalities with slow wave (100.0%), epileptic discharge (31.5%) and delta brush (8.1%) respectively. 41.4% of patients had abnormal brain MRI, with focal lesions being the most common. None patients had tumor. 80.9% of patients had good response to first line therapy (steroid plus immunoglobulin), while 14 patients accepted second-line therapy (Rituximab) and all had a good response. Boys were significantly more likely to need more course of steroid. 13.8% of patients relapsed. 2 male patients died. mRS score was significantly improved after treatment. 51.4% of patients had a full recovery and 81.7% had mRS score ≤ 2. The median mRS score of boys after treatment was higher than that of girls. Non-infectious prodromal event, past medical history, perivascular lesions in brain MRI, hospital stay, initial mRS score higher than 3, and RTX treatment were independent risk factors associated with poor prognosis, defined as mRS score > 2. Conclusion Of pediatric anti-NMDAR encephalitis in southern China: median onset age around 7 years; girls more common; boys might have poor outcome than girls; seizure or movement disorder respectively being most common onset or course symptom; a few overlapped with other neuronal autoantibodies; rare combined with tumor; most had a good response to immunotherapy and a good prognosis; relapse rate relatively high; fatality rate relatively low; some risk factors associated with poor prognosis.

Background: Research on pediatric anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is limited. We studied clinical features of children with anti-NMDAR encephalitis in southern China.Methods: Pediatric anti-NMDAR encephalitis between 2014 and 2019 from one tertiary medical center was analyzed. The Modified Rankin Scale (mRS) score was adopted to evaluate outcomes.Results: 107 children (M/F=50/57; mean onset age=6.3 y) with anti-NMDAR encephalitis were involved. Boys significantly showed earlier onset age, higher ratio of fever, longer hospital day, more courses of steroid treatment, higher mRS score after treatment. 48.6% of patients had prodromal events with infectious events most common. The most common symptom at onset and during whole course was seizures and psychiatric symptoms respectively. Initial median white cell count of cerebral spinal fluid (CSF) was 22.0x106/L. 12.1% of patients had positive herpes simplex virus DNA of CSF. All patients had CSF positive NMDAR antibodies, although 86.9% of patients had serologically positive. 9.3% of patients had overlapped other neuronal antibodies. Electroencephalograph showed abnormalities with slow wave (95.3%) and epileptic activity (41.5%). Delta brush was revealed in 3.8% of patients. 36.4% of patients had lesions in brain MRI, with local lesions most common. No tumor was found in all. 84.9% of patients responded well to the first line therapy (steroid plus immunoglobulin), while 12 patients accepted second-line therapy (Rituximab) with 91.7% of effective rate. 12.1% of patients relapsed. 2 male patients died. The median length of hospital stay was 28 days. The mRS score was significantly improved after treatment. 51.0% of patients had a full recovery. 76.6% of patients had mild neurological disability (mRS≤2). Male, speech disorder, initial score of mRS and administration of second-line therapy were independent risk factors associated with the outcome.Conclusions: Of pediatric anti-NMDAR encephalitis in southern China: the mean onset age was about 6-year-old, earlier in boys; boys remained slower to recover and with a worse prognosis; the most common respective symptom at onset and during whole course was seizures and psychiatric symptoms; combination with tumor was rare; most patients respond well to the immunotherapy; relapse and fatality rate were relatively low; most patients had a good prognosis.

Purpose To analyze diurnal cortisol (COR) rhythms among children with epileptic spasms (ESs) and explore the relationship between endocrine factors, circadian rhythm, and ES. Methods This study assessed the COR and adrenocorticotropic hormone (ACTH) levels at 08:00 and 16:00, and COR values at 00:00 among children with ESs. Additionally, the etiology of ESs was analyzed. All cases were divided into the following three etiology groups: genetic group, structural etiology group, and unknown etiology group. ACTH was administered to 24 patients, who were divided into the positive electroclinical outcome group and negative electroclinical outcome group. All data were analyzed using a two-way repeated measures analysis of variance. Results All children showed a COR rhythm. Controls displayed a significantly different COR rhythm from that in the ES group (Fgroup*COR =24.100, p = 0.000). It was observed that the ACTH levels at 08:00 (t = −3.720) and 16:00 (t=-3.794) and COR levels at 16:00 (t = −2.264) and 00:00 (t = −4.607) in the ES group were significantly higher than those in the control group (p Conclusion Our results suggest that the change in COR rhythm is an important pathophysiological characteristic of ESs, suggesting that hypothalamus-pituitary-adrenal axis dysfunction possibly leads to the different manifestations of ESs.

The ‘hot cross’ bun (HCB) sign refers to pontine cruciform hyperintensity on T2 weighted magnetic resonance image (MRI) which is frequently seen in multiple system atrophy and spinocerebellar ataxia types 2 and 3. We describe a 3 years old boy of encephalitis and his MRI image showed HCB sign in the pontine. After immunosuppressive treatment and followed up 14 months, he got a good outcome and the HCB sign narrowed nearly disappeared.

To evaluate the correlation between clinical spectrum and therapeutic outcomes and neuropsychological deficits in children with status epilepticus during sleep (SES).The clinical spectrum of patients with SES was defined as follows: status epilepticus of benign childhood epilepsy with centro-temporal spikes (SEBECTs), atypical benign focal epilepsy during childhood (ABFEC), non-idiopathic focal epilepsy (NIFE), and Landau-Kleffner syndrome (LKS). SES cases were divided into 4 groups according to neuropsychological findings before treatment: developmental delay/intellectual disability (DD/ID), cognitive impairment (CI), attention deficit and/or hyperactivity behaviors (AHD), and normal group (NG). The therapeutic outcomes were classified into 3 groups: satisfactory response, recurrence, and seizure control.A total of 39 cases (24 males and 15 females) were recruited, including 3 cases with SEBECTs, 26 with ABFEC, 8 with NIFE [2 with focal cortical dysplasia (FCD)], and 2 with LKS. There were 7 patients in the DD/ID group, 8 in the CI group, 19 in the AHD group, and 5 in the NG group. Neuropsychological outcomes were significantly different among clinical spectrum (P 0.001), and neuropsychological deficits frequently occurred in the ABFEC group or in the NIFE group. Besides, 18 patients in the satisfactory group had satisfactory response to medicine or surgery (2 out of 18 cases with FCD), whereas recurrence was observed at least one session within one year in 16 cases in the recurrence group, and no improvement in spike-wave index and cognition/behavior was noted in 5 patients in the seizure control group, although seizure could be controlled. There were significant differences in therapeutic outcomes among clinical spectrum (P = 0.041), with the worst outcomes in the NIFE group (only 1 out of 8 with satisfactory good response).It is important to categorize patients with SES into epilepsy syndromes, including SEBECTs, ABFPEC, NIFE, and LKS; the clinical spectrum may be a significant determinant to influence the outcomes of SES, including neuropsychological deficits and therapeutic outcomes.