ABSTRACT
BACKGROUND: This retrospective study assessed the efficacy and safety of ketogenic diet therapies in children with epilepsy caused by SLC2A1 genetic mutations and glucose transporter type 1 deficiency syndrome. METHODS: Pediatric patients with epilepsy symptoms admitted to our medical center between January 2017 and October 2021 were included if they presented with an SLC2A1 genetic mutation on whole-exome sequencing. We analyzed the patients' convulsions and treatment with antiepileptic drugs. The patients were followed up at different time periods after ketogenic diet therapies. RESULTS: Six patients with SLC2A1 mutations were included in this study. The patients had seizures of different types and frequencies, and they took antiepileptic drugs to relieve their symptoms. They were then treated with a ketogenic diet for at least four months. We analyzed epilepsy control rates at 1, 2, 3, 6, and 12 months after ketogenic diet treatment. All patients were seizure-free within a month of receiving the diet therapy. All patients were followed up for six months, three were followed up for 12 months after the treatment, and there was no recurrence of epilepsy during this period. After antiepileptic drug withdrawal, none of the patients experienced seizure relapse when receiving ketogenic diet treatment alone. No severe adverse events occurred during the therapy. CONCLUSIONS: Ketogenic diet therapy is very effective and safe for the treatment of epilepsy caused by SLC2A1 mutations. Therefore, patients with glucose transporter type 1 deficiency syndrome caused by SLC2A1 mutations should begin ketogenic diet treatment as soon as possible.
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Objective: To investigate the association between sleep disturbances and behavioral problems as well as quality of life (QOL) in Chinese children with epilepsy. Methods: Caregivers of 167 epileptic children aged 3 to 12 years completed the Child Sleep Habits Questionnaire (CSHQ), the Strengths and Difficulties Questionnaire (SDQ), and the Pediatric Quality of Life Inventory (PedsQL™, 4.0 Core). Results: The prevalence of sleep disturbances (CSHQ total score >41) in epileptic children was 73.7% [95% CI (66.9%.80.4%)]. Epileptic children with sleep disturbances demonstrated more behavioral problems and lower QOL compared to those without sleep disturbances. Sleep disturbances such as sleep anxiety and daytime sleepiness were associated with more behavioral problems and lower QOL (p <0.05). Linear regression analyses showed that higher disturbance in sleep duration domain were associated with more behavioral problems, while higher sleep disordered breathing domains was associated with lower QOL (p <0.05). The interaction between sleep disturbances and behavioral problems in predicting QOL was not significant. The sensitivity analysis using 48 as an alternative cutoff for CSHQ total score obtained consistent results. Conclusion: Sleep disturbances occur frequently among Chinese children with epilepsy, and are associated with more behavioral problems and lower QOL. The sleep disturbance-QOL association is unlikely contingent on behavioral problems. This study highlights the necessity of evaluating and treating sleep disturbances multidimensionally among children with epilepsy to promote their whole health and wellbeing.
ABSTRACT
Childhood epilepsy is a considerably heterogeneous neurological condition with a high worldwide incidence. Genetic diagnosis of childhood epilepsy provides the most accurate pathogenetic evidence; however, a large proportion of highly suspected cases remain undiagnosed. Accumulation of rare variants at the exome level as a multigenic burden contributing to childhood epilepsy should be further evaluated. In this retrospective analysis, exome-level sequencing was used to depict the mutation spectra of 294 childhood epilepsy patients from Shanghai Children's Medical Center, Department of Neurology. Furthermore, variant information from exome sequencing data was analyzed apart from monogenic diagnostic purposes to elucidate the possible multigenic burden of rare variants related to epilepsy pathogenesis. Exome sequencing reached a diagnostic rate of 30.61% and identified six genes not currently listed in the epilepsy-associated gene list. A multigenic burden study revealed a three-fold possibility that deleterious missense mutations in ion channel and synaptic genes in the undiagnosed cohort may contribute to the genetic risk of childhood epilepsy, whereas variants in the gene categories of cell growth, metabolic, and regulatory function showed no significant difference. Our study provides a comprehensive overview of the genetic diagnosis of a Chinese childhood epilepsy cohort and provides novel insights into the genetic background of these patients. Harmful missense mutations in genes related to ion channels and synapses are most likely to produce a multigenic burden in childhood epilepsy.
ABSTRACT
Anaerobic bacterial meningitis is a rare infectious disease, and there are some special predisposing factors for it. We report a case of polymicrobial anaerobic bacterial meningitis in a nine-month-old boy who visited our hospital due to "fever with drowsiness and vomiting for 2 days". It was confirmed by the method of sanger sequencing after polymerase chain reaction (PCR) that the purulent meningitis was caused by a mixture of four anaerobic bacteria (Finegoldia magna, Campylobacter ureolyticus, Bacteroides fragilis and Porphyromonas bennonis). Even though there was no obvious structural abnormality on the skin surface, magnetic resonance imaging (MRI) examination suggested the presence of a sacrococcygeal dermal sinus. It was proven that anaerobic bacterial meningitis was secondary to retrograde infection of the dermal sinus. Finally, he was cured by a combination of anti-infection measures and surgical treatment. In conclusion, using appropriate molecular diagnostic techniques may quickly and accurately determine the pathogenic bacteria of anaerobic bacterial meningitis. When anaerobic bacterial meningitis occurs, the presence of structural abnormalities such as dermal sinus needs to be ruled out to avoid recurrence of the disease. In addition to anti-infective treatment, patients with dermal sinuses should undergo surgery as soon as possible to address abnormal structures and their root causes.
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Epileptic spasms are a catastrophic form of epilepsy. When epileptic spasms occur under 2-year-old, they may be also called "infantile spasms". Adrenocorticotropic hormone (ACTH) is recommended as first line intervention for the treatment of epileptic spasms without tuberous sclerosis complex. The chief risks of ACTH therapy are immunosuppression and hypertension. We reported rare cases of abnormal high blood pressure in two male epileptic spasms patients during ACTH therapy. Both patients' blood pressure reached a high blood pressure stage 2 on the 9th day and 10th day of ACTH treatment, respectively. The blood pressure returned to normal range after the drug dosage was reduced or stopped. The lower level of neutrophil%, neutrophil count, and a higher level of lymphocyte%, lymphocyte count and prealbumin than normal range were observed in both patients before ACTH therapy. The neutrophil to lymphocyte rate might be a predictor for high blood pressure among patients treated with ACTH. The rates of both patients were under 0.50 (0.42 for Case 1 and 0.17 for Case 2). We reported the documented cases in two Chinese pediatric patients who suffered from epileptic spasms treated with ACTH resulted in abnormal high blood pressure, which could be predicted by using neutrophil to lymphocyte rate. We also mentioned serum prealbumin might be another predictor. More clinical data is required to elucidate the relationship between serum prealbumin level and blood pressure.
ABSTRACT
Objective To discuss the anatomical morphologies of the coronary arteries and frequencies of unusual coronary arteries in complete transposition of the great arteries and double outlet right ventricle (DORV) associated with a subpulmonic ventricular septal defect (VSD). Methods Between March 1999 and August 2012, 1,078 patients with complete transposition of the great arteries or DORV with subpulmonary VSD underwent arterial switch operations (ASOs) and were visually evaluated to classify their coronary artery morphology during open heart surgery. Results The coronary arteries could be classified into five patterns with several subtypes. Unusual coronary arteries were observed in 248 of the 1,078 cases, providing a frequency of 23.01%. The frequencies of the patients with transposition of the great arteries with intact ventricular septum (TGA/IVS), TGA/VSD, and DORV with subpulmonary VSD were 17.65, 23.28, and 31.84%, respectively. The most common morphologies were the right coronary artery (RCA) originating from sinus 1 and circumflex (CX) originating from sinus 2 (1R, AD; 2CX; 26.50%); the CX originating from sinus 2 (1AD; 2R, CX; 21.36%); the RCA, left anterior descending artery, and CX originating from single sinus 2 (2R, AD, CX; 13.24%). The in-hospital mortalities of the patients with or without unusual coronary arteries after ASO were 14.1 and 6.02%, respectively. Conclusion Patients with complete transposition of the great arteries or DORV with subpulmonary VSD have a high frequency of unusual coronary arteries, which might greatly impact on the mortality for ASO. Improving the preoperative diagnostic criteria for coronary artery morphology may significantly increase the success rate for ASOs.
