Retrospective evaluation of Guillain-Barre syndrome in children: A single-center experience.

BACKGROUND: Although Guillain-Barré syndrome (GBS) is now the most common cause of acute flaccid paralysis in children, information on the long-term follow-up of GBS is still limited. Identification of prognostic factors can play an important role in treatment strategies and the follow-up of patients. This study aimed to evaluate the effectiveness of monitoring the GBS disability score (DS) in predicting morbidity and mortality. METHODS: The patients were separated into two groups those with DS≥ or <3 on admission. These groups were compared in respect of demographic data, clinical and laboratory findings, and the DS recorded on admission and at first, third, sixth, 12th, and 24th months. RESULTS: The study included 44 patients (54.5% male, 45.5% female) with a median age of 5 years. The most common involvements during the disease were weakness, ataxia, neuropathic pain, cranial neuropathy, respiratory distress, autonomic dysfunction, and psychiatric symptoms, respectively. In patients with a DS of ≥3, the time from onset of symptoms to hospital admission was shorter, and the length of hospital stay was longer. Children with back pain and autonomic dysfunction had a DS of ≥3. A high 3-month DS was found to be a significant predictor for the development of sequelae. CONCLUSIONS: Although progressive muscle weakness and inability to walk are the most common symptoms of GBS, it should be kept in mind that atypical manifestations such as hemiplegia and ophthalmoplegia may also occur. For an objective assessment of clinical improvement during follow-up, the DS for motor functions can be used.

Retracted: Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort.

Aycan Ünalp, Yigithan Güzin, Bülent Ünay, Ayse Tosun, Dilek Çavusoglu, Hande Gazeteci Tekin, Semra Hiz Kurul, Ebru Arhan, Selvinaz Edizer, Gülten Öztürk, Uluç Yis, Ünsal Yilmaz, Turkish Rare Epilepsies Study Group, Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort, Epileptic Disorders, 2023, (https://doi.org/10.1002/epd2.20150) The above article, published online on 16 August 2023 on Wiley Online Library (www.onlinelibrary.wiley.com), has been retracted by agreement between the authors, the Editor-in-Chief, Sándor Beniczky, and John Wiley & Sons Ltd. The authors asked for a retraction based on an experimental error which would alter the results of the study if corrected.

Kidney Stones in Epileptic Children Receiving Ketogenic Diet: Frequency and Risk Factors.

BACKGROUND: Although it is a valuable option for children with drug-resistant epilepsy, ketogenic diet (KD) therapy is associated with several side effects. The frequency of kidney stones and risk factors for their development in epileptic children receiving KD is unclear. The aim of this study was to determine the frequency and risk factors for the development of renal stones in children receiving KD therapy. METHODS: A total of 95 patients receiving KD were identified. Of these, seven patients were excluded from the study due to the duration of KD being less than 12 months. The remaining 88 children were enrolled in the study. RESULTS: Renal stones were detected in 15 patients (17%), of which 12 (73.3%) received potassium citrate treatment. Two (13.3%) patients needed lithotripsy despite receiving potassium citrate treatment, and one of these, who received potassium citrate treatment for 5 months, developed acute vesicourethral reflux and underwent surgery. No patient discontinued KD due to renal stone development. The serum uric acid concentrations and urine calcium/creatinine ratio did not change significantly over the 24-month follow-up period. Age, gender, etiology, age at seizure onset, duration of KD, mobility status, use of topiramate or zonisamide, and the number of antiepileptic drugs used were not significantly different between patients with and without kidney stones. CONCLUSION: Renal stone appears to be a common adverse effect of KD therapy. Although adequate hydration and potassium citrate treatment are effective in most patients, lithotripsy and surgery may be required in a minority of patients.

Clinical Features and Management of Status Epilepticus in the Pediatric Intensive Care Unit.

OBJECTIVES: Status epilepticus (SE) is associated with significant morbidity and mortality in children. SE in the pediatric intensive care unit (PICU) are not well characterized. The aim of this study is to retrospectively investigate the clinical features and treatment of seizures in children admitted to the PICU of our hospital. METHODS: We retrospectively examined the clinical characteristics of patients aged between 1 month and 18 years who were admitted to our hospital with SE or who were diagnosed with SE after hospitalization and were followed up with continuous electroencephalographic monitoring between January 2015 and December 2019. RESULTS: A total of 88 patients with SE, 50 (56.8%) boys and 38 (43.2%) girls, were included. The median age was 24 months (interquartile range, 12-80 months). When we evaluate the continuous electroencephalographic monitoring data, 27 (30.7%) were lateralized, 20 (22.7%) were multifocal, 30 (34.1%) were generalized, and 11 (12.5%) were bilateral independent epileptic activity. Seventy nine patients (89.8%) were evaluated as convulsive status epilepticus (CSE) and 9 (10.2%) as nonconvulsive status epilepticus (NCSE). Pediatric Risk of Mortality (PRISM III) score and mortality of patients with NCSE were higher ( P = 0.004 and P = 0.046, respectively). Thirteen eight patients (43.1%) were diagnosed as SE, 38 patients (43.1%) as refractory SE, and 12 patients (13.6%) as super-refractory SE. The overall mortality rate was 10.2%. CONCLUSIONS: Status epilepticus is a neurological emergency that causes mortality and morbidity. Electroencephalographic monitoring is important for the recognition of seizures and rapid intervention. No superiority of second-line treatments or combined treatments was demonstrated in patients with SE.

A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy.

BACKGROUND: Hypomyelinating leukodystrophy-14 (HLD14) is a rarely seen neurodevelopmental disease caused by homozygous pathogenic ubiquitin-fold modifier 1 gene variants. The disease has an autosomal recessive inheritance. All patients with this condition reported to date have drug-resistant epilepsy. The posttranslational modification of proteins with ubiquitin fold modifier 1 is defective in these patients and is thought to be responsible for severe neurodevelopmental problems. There is no previous report on the effectiveness of the ketogenic diet in the treatment of drug-resistant epileptic seizures in this disease. Therefore, we present a pediatric case diagnosed with HLD14 and whose drug-resistant epileptic seizures were controlled by ketogenic diet therapy. CASE: The patient was a three-year-old male with drug-resistant epilepsy and developmental delay. His brain magnetic resonance imaging revealed cerebellar atrophy, periventricular white matter hypomyelination, and ventricular enlargement. Whole-exome sequencing analysis identified a homozygous pathogenic variant in the ubiquitin-fold modifier 1 gene on chromosome 13q13. Ketogenic diet therapy was initiated for his drug-resistant seizures and subsequently reduced seizure frequency by more than 75%. The patient is still on ketogenic diet therapy. CONCLUSIONS: Ketogenic diet therapy may be beneficial for seizure control in HLD14 patients with drug-resistant seizures.

Pediatric Status Epilepticus Severity Score (STEPSS): Predictive Performance of Functional Outcomes: A Prospective Single-Center Study.

Objective: To prospectively investigate the predictive value of the modified Status Epilepticus Severity Score (STESS) for pediatric use (STEPSS) regarding unfavorable outcomes in the short term. Methods: Patients diagnosed as status epilepticus in the emergency department between January 2019 and June 2021 at a tertiary center of the University of Health Sciences, Dr. Behcet Uz Children's Hospital, were included in the study. The patients were followed up in the emergency department, neurology clinic, and pediatric intensive care unit until discharge. Demographic and clinical characteristics, STEPSS, and Pediatric Overall Performance Category Scale (POPC) scores were calculated. We defined a Pediatric Overall Performance Category Scale score ≥3 as an unfavorable outcome. We compared the effect of STEPSS on unfavorable outcomes and mortality. Results: 124 children were included. The median age was 33 months (interquartile range 16.2-84.7). Seventy-two (58.1%) patients had acute symptomatic etiology. We found that the STEPSS score with the receiver operating characteristic curve (area under the curve = 0.917, P < .001) could predict unfavorable outcomes (Pediatric Overall Performance Category Scale score ≥3) in children with status epilepticus. The Youden index (0.76) showed that a STEPSS score >2 was the optimal cutoff point for an unfavorable outcome. We found STEPSS useful in predicting mortality (area under the curve = 0.853, P < .001). The Youden index (0.58) indicated that a STEPSS >2 was the optimal cutoff for mortality: sensitivity 0.90 (95% confidence interval [CI] 0.58-0.99), specificity 0.67 (95% CI 0.57-0.77), positive predictive value 0.21, negative predictive value 0.98, positive likelihood ratio 2.7, negative likelihood ratio 0.14. Conclusion: We determined that STEPSS can be predicted unfavorable outcomes and mortality. We think that STEPSS can be used as a useful clinical score with further studies and external validations.

The effectiveness of the ketogenic diet in drug-resistant childhood epilepsy.

BACKGROUND: We aimed to investigate the effectiveness of ketogenic diet (KD) in children with various types of refractory epilepsy. METHODS: A total of 91 children (49 females) aged 3 to 193 months (median, 52 months) with drug resistant epilepsy who received KD treatment for at least 12 months were enrolled in the study. Seizure frequency, adherence to diet, reason for discontinuation of KD, and adverse effects were recorded. Response was defined as ≥50% improvement in seizure frequency compared to baseline. We also searched for influences of different variables on the outcome. RESULTS: Intent-to-treat analysis revealed an improvement in seizure frequency for ≥50% in 73.6%, 80.2%, 75.8%, 73.6%, and 70.3% of patients at month-1, -3, -6, -9, and month-12, respectively. Overall, 32 (35.2%) patients remained seizure-free at month-12. There was no significant differences between responders and nonresponders in terms of age at onset of epilepsy, age at onset of KD, gender, or etiology. Mild hyperlipidemia was associated with a higher response rate. At the last follow-up (median: 20 months), 38 (41.8%) patients were still maintained on KD. While 15.4% of patients completed the diet with a success in seizure control, remainder discontinued KD due to lack of efficacy (23.1%), non-adharence to diet (11%), intercurrent infection (4.4%), adverse effects (3.3%), and death (1.1%). CONCLUSION: Ketogenic diet treatment appears to be effective in about two-thirds of children with various types of drug-resistant epilepsy, including one-third remaining seizure free. Mild hyperlipidemia seems to be associated with a higher response rate. Discontinuation of KD is mostly due to lack of efficacy or nonadherence, and rarely side effects.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants.

BACKGROUND: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive disorder caused by mutations in the immunoglobulin µ-binding protein-2 (IGHMBP2) gene on chromosome 11q13.2-q13.4. The initial symptoms of patients with SMARD1 are respiratory distress and distal muscle weakness manifesting in the infantile period due to progressive degeneration of α-motor neurons. Preterm birth, intrauterine growth retardation, feet deformities, sensory and autonomic neuropathy are other main features. CASE: Herein, we report the characteristics of a 6-year-old Turkish girl with a diagnosis of SMARD1 confirmed by homozygous c.1738G > A (p.Val580Ile) missense IGHMBP2 variant. She had unusual features such as vocal cord paralysis, nystagmus, and lack of congenital foot deformities besides typical findings including hypotonia, respiratory distress, and diaphragmatic weakness in the early infantile period. Epileptic seizures, cognitive impairment, and brain magnetic resonance imaging (MRI) abnormalities were other, unexpected, features which developed during the course of the disorder possibly due to several hypoxic episodes. CONCLUSIONS: SMARD1 should be kept in mind in hypotonic infants with diaphragmatic weakness and respiratory failure during the early infantile period, even in the presence of unexpected findings including vocal cord paralysis, nystagmus, epileptic seizures, and brain MRI abnormalities.

Evaluation of the effects of ketogenic diet therapy on sleep quality in children with drug-resistant epilepsy and their mothers.

BACKGROUND: Sleep disorders are common in drug-resistant children with epilepsy and their mothers. Ketogenic diet therapy (KDT) may have positive effects on sleep quality. The aim of this study was to evaluate the sleep quality of children with epilepsy and their mothers after starting KDT. METHODS: Using a prospective cross-sectional model, pre- and post-KDT questionnaires were given to the study subjects. A children's sleep habits questionnaire was administered to children with epilepsy, and the Pittsburgh sleep questionnaire was administered to their mothers. Sociodemographic and some clinical categorical variables of the patient group were evaluated using descriptive statistics. Evaluation of the data was conducted using the Wilcoxon and paired t-tests as parametric and non-parametric tests. RESULTS: Of 24 patients scheduled to begin KDT between January 2019 and January 2020, 14 were included in the study. Regarding sleep quality, improvement was reported in 7 (50%) of 14 patients, deterioration in 5 (35.7%) patients, and no change was seen in 2 (14.3%) patients. Sleep quality was reported to improve in all working mothers. Seven (50%) patients reported no seizures and 6 (42.9%) patients reported more than 50% seizure reduction. Although there were improvements in sleep scores in both groups, these improvements were not statistically significant. A significant decrease in sleep anxiety was reported in children after the third month of the KDT (p = 0.09). CONCLUSIONS: The results of this study determined that three months of KDT offered significant improvement on the sleep anxiety of children with epilepsy. It was thought that paying attention to patient selection may lead to better sleep quality by increasing compliance to KDT. However, a larger scale study and longer term follow-up should be done.

The effect of ketogenic diet on serum lipid concentrations in children with medication resistant epilepsy.

BACKGROUND: Ketogenic diet (KD) is a valuable treatment option for patients with medication-resistant epilepsy. It is associated with a number of side effects. However limited data are available for the long-term effects of KD on serum lipid levels. PURPOSE: The aim of this study was to investigate the long-term effects of KD on serum lipid concentrations in children with medication-resistant epilepsy in daily clinical practice. METHOD: A total of 73 children (40 girls) aged 3 to 193 months (median, 53 months) with medication-resistant epilepsy who received a KD treatment for at least 12 months between 2014 and 2019 years were enrolled in the study. All children were started on a KD with 3:1 ratio which was then adjusted between 2:1 to 4:1 after the onset of KD as clinically necessary. Serum total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglyceride concentrations and body mass index-standard deviation scores (BMI-SDS) were measured at onset and at 1, 6 and 12 months of treatment, and also in 40 of these patients they were measured at 18 and 24 months of treatment. RESULTS: Dyslipidemia was observed in 71.2, 63, 63, 50, and 52.5% of the patients, at 1, 6, 12, 18, and 24 months, respectively. Median total cholesterol and triglyceride concentrations increased significantly at month-1, and although these high levels persisted for 24 months, the increase did not continue and showed a downward trend. However, this increase did not occur in the subset of patients with pre-existing dyslipidemia. Compared to baseline values, total cholesterol and triglyceride concentrations were higher at all time points, except 24-month cholesterol values. During the 24-month treatment period, BMI-SDS increased and the number of antiepileptic drugs decreased significantly. CONCLUSION: Total cholesterol and triglyceride concentrations appear to increase during the first month of KD treatment, and although these high values persist for 24 months, the increase does not continue, on the contrary, it approaches the normal values by drawing a downward trend. However, cholesterol and triglyceride concentrations do not increase in the subset of patients with pre-existing dyslipidemia.

The effect of ketogenic diet on thyroid functions in children with drug-resistant epilepsy.

BACKGROUND: Ketogenic diet (KD) remains a valuable treatment option for children with drug-resistant epilepsy. However, it may cause many well-known adverse effects such as dyslipidemia or kidney stones. But, its effects on thyroid functions are largely unknown. PURPOSE: The aim of this study was to investigate the effects of the KD on thyroid functions in children with drug-resistant epilepsy. METHOD: A total of 66 children (35 females) aged 3-193 months (median, 52 months) with drug-resistant epilepsy who received a KD for at least 12 months were enrolled in the study. All children were started on KD with 3:1 ratio which was then adjusted as clinically necessary. Serum free-thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations were measured before starting treatment and at the first, sixth and twelfth months of treatment. Changes in FT4 and TSH concentrations over 12 months were analyzed. RESULTS: Median serum FT4 and TSH concentrations, and the frequencies of patients with low FT4 and high TSH concentrations did not change significantly in the study sample over the 12-month study period. Serum FT4 levels increased significantly and TSH concentrations decreased insignificantly in four patients receiving L-thyroxine replacement therapy. During the 12-month treatment period, BMI-SDS increased, and the number of antiepileptic drugs decreased significantly. CONCLUSION: It appears that KD therapy does not impair thyroid functions in children with drug-resistant epilepsy. KD can be used safely along with L-thyroxine replacement even in children with pre-existing subclinical hypothyroidism.

Atypical presentation of MOG-related disease: Slowly progressive behavioral and personality changes following a seizure.

BACKGROUND: Myelin Oligodendrocyte Glycoprotein (MOG) antibodies-related disease is mainly presented with acute disseminated encephalomyelitis (ADEM), recurrent optic neuritis, and neuromyelitis optica spectrum disorders (NMOSDs), however the complete clinical spectrum has not yet been defined. We describe an unusual presentation of MOG- related disease. A previously well 10-year-old girl admitted with a focal onset seizure. Neurological examination, electroencephalography, and brain magnetic resonance imaging (MRI) were normal. Following seizure episode she developed gradually increased behavioral and personality changes during a period of 2.5 months. Neurological examination was unremarkable except for drowsiness and minimal ataxia on tandem walking. Repeated brain MRI revealed hazy and poorly demarcated lesions with gadolinium enhancement in the basal ganglia, supratentorial white matter, cerebral peduncles, cerebellum, and servical spinal cord. Cerebrospinal fluid analyses (CSF) revealed 10 lymphocytes /µL, normal protein concentration and IgG index, and negative oligoclonal bands. Auto-antibodies against N-methyl-d-aspartate receptor and CASPR2 in CSF, and antibodies against aquaporin 4 in serum were negative. Analysis with a cell-based assay identified high serum titer of MOG antibodies (1:320). Following IVIG therapy, the patient showed complete clinical recovery within a week with no further relaps for the following 6-month period. CONCLUSION: Slowly progressive behavioral and personality changes following a seizure may be a manifestation of MOG-related disease in children.