A New Perspective On Arterioectatic Spinal Angiopathy with a Reversible Pattern: Cause or Consequence?

OBJECTIVE: In 2022, arterioectatic spinal angiopathy (AESA) of childhood was reported as a fatal, progressive, multi-segment myelopathy associated with a unique form of non-inflammatory spinal angiopathy involving diffuse dilatation of the anterior spinal artery and cord congestion in children. In this study, we present four more cases of AESA, using early and long-term conventional imaging and flat detector computed tomography angiography (FDCTA) imaging to assess the probability of disease regression and prevent unnecessary interventions. METHODS: We retrospectively reviewed the clinical and radiological findings of four patients with AESA seen in two neuroradiology departments between 2014 and 2023. RESULTS: The study included three boys and one girl. Two of the boys were siblings. Although the clinical and radiological presentation in the early stages of the clinical course overlapped the definition of AESA, the clinical course was more benign in three of the cases. The clinical courses of the two siblings with monosegmental cord involvement and largely reversible radiological findings suggest that some of the features in the initial definition of the disease cannot be standardized for all patients. The siblings had a mutation of the NDUFS gene, which is involved in mitochondrial function and clinical-radiological reversibility in these patients. CONCLUSION: Many mitochondrial diseases, such as this NDUFS mutation, present with myelopathy, and mitochondrial diseases can sometimes show spontaneous recovery. It is crucial to identify other genetic mutations or environmental factors that trigger the accompanying vascular ectatic findings in AESA in larger multicenter studies to prevent its potential lethal course and possible unnecessary surgical-endovascular interventions.

Exploring the Influence of Concurrent Nutritional Therapy on Children with Spinal Muscular Atrophy Receiving Nusinersen Treatment.

Background This study examines spinal muscular atrophy (SMA), a neuromuscular disease associated with malnutrition. Our goals are to assess how effectively screening tools can detect malnutrition and evaluate the impact of nutritional interventions on neurological outcomes, particularly motor functions. Methods Thirty-seven genetically diagnosed SMA patients (types 1, 2, and 3) under nusinersen therapy were included in the study. The nutritional status of these patients was assessed by using anthropometric measurements, including height for age (HFA), weight for height (WFH), and body mass index (BMI) before and after the study. Additionally, the risk of malnutrition was determined using screening tools, namely the Pediatric Yorkhill Malnutrition Score (PYMS) and the Screening Tool for the Assessment of Malnutrition in Pediatrics (STAMP). Nutritional counseling followed the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines and considered the patients' dietary history, including content and administration method. Motor functions were assessed by validated tests: the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Hammersmith Functional Motor Scale-Expanded (HFMSE). Result The study showed an improvement in HFA, by a change from -0.95 to -0.65 (p = 0.015). Conversely, BMI scores decreased from 0.08 to -0.54 (p = 0.015), while WFH and MUAC showed no significant alterations (p = 0.135, p = 0.307). Following nutritional interventions, HFMSE demonstrated a median increase from 29.5 to 30.5 (p = 0.023). Patients identified as being at high risk for malnutrition based on PYMS and STAMP belonged to the moderate-to-severe malnutrition group (BMI Z-score ≤ -2, p = 0.001). Conclusions Use of screening tools in SMA patients is highly beneficial for the early detection of malnutrition. Future research should highlight the importance of combining nutritional management with nusinersen therapy to potentially alter the disease trajectory, especially in motor and neurological functions.

Respiratory functions, respiratory muscle strength and fatigue in patients with pediatric-onset multiple sclerosis: a comparative cross-sectional study.

PURPOSE: To compare PwPOMS and healthy controls in terms of respiratory functions, respiratory muscle strength, and fatigue, and investigate the determining role of fatigue on respiratory parameters. METHODS: Twenty-five PwPOMS and 15 healthy controls were included in the study. Maximum inspiratory pressure (MIP) and expiratory pressures (MEP) were measured. Respiratory functions were evaluated using spirometry, and predicted values were recorded for FEV1, FVC, FEV1/FVC, and PEF. Fatigue levels were assessed using the Pediatric Quality of Life Inventory Multidimensional Fatigue Scale (PedsQL-MFS). RESULTS: The FEV1%pred (p = 0.022), PEF%pred (p = 0.003), MIP (p = 0.001), and MEP (p = 0.019), cognitive fatigue self-reported score of PedsQL-MFS (p = 0.037), sleep-rest fatigue (p = 0.034), cognitive fatigue (p = 0.010), and total score (p = 0.005) of PedsQL-MFS Proxy Report were significantly decreased in PwPOMS compared with their healthy peers. Regression analysis showed that the general fatigue of self-reported PedsQL-MFS was a determinator for FEV1%pred (ß= -0.467) and PEF% (ß= -0.553), and total score PedsQL-MFS was a determinator for FEV1/FVC %pred (ß= -0.599). CONCLUSION: PwPOMS had decreased respiratory muscle strength, FEV1, and PEF, with preserved FEV1/FVC and higher fatigue levels than their healthy peers. In addition, self-reported fatigue had a determining role in respiratory functions but not respiratory muscle strength in PwPOMS. This trial is registered on ClinicalTrials.gov under "NCT05123924" available at: https://clinicaltrials.gov/ct2/show/NCT05123924 .

Children With Type 1 Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.

OBJECTIVE: This study aimed to provide a comprehensive overview of the clinical features, laboratory and screening results, treatment options, and outcomes of patients with type I interferonopathy. Our secondary goal was to identify the predictors of long-term morbidity or mortality. METHODS: We included children with genetically confirmed type I interferonopathies, with a follow-up duration of > 1 year. Data were obtained retrospectively from medical records. RESULTS: Of the 40 eligible patients for the study, 52.5% were female, with a median age of disease onset of 1.5 years (range 0.1-13.2 yrs). They were diagnosed at an average age of 6.8 (SD 4.6) years. Aicardi-Goutières syndrome was the most common diagnosis (n = 15, 37.5%). The central nervous system was the most frequently affected system (n = 27, 67.5%). Janus kinase inhibitors were administered to 17 (42.5%) patients. Twenty-five patients (62.5%) developed at least 1 permanent morbidity or died during follow-up; thus, they were included in the poor outcome group. Although younger age at disease onset, intracranial calcification (ICC), and lack of chilblains and elevated acute-phase reactants were significant in univariate logistic regression analysis, only ICC on magnetic resonance imaging at admission (adjusted odds ratio 19.69, 95% CI 1.08-359.05, P = 0.04) was found to be a significant predictor of poor outcomes in multivariate logistic regression analysis. CONCLUSION: For the first time, we evaluated the predictors of poor outcomes in patients with type I interferonopathy with a broad spectrum of subtypes. Further, our study's unique patient characteristics can provide valuable insights into these extremely rare conditions.

Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10.

BACKGROUND: Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed. METHODS: Phenotype, growth parameters, motor functions, developmental tests, spasticity assessments, functional independence assessments, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) of 10 patients with PCH10 were monitored on separate examinations. Alterations were recorded. RESULTS: Patients were followed-up for an average of 2.83 years. The tone of the upper extremities was significantly higher than that of the lower extremities, according to Modified Ashworth Scale (MAS) values. Sixty percent of patients could sit unsupported; 20% achieved supported sitting initially but lost the ability during follow-up. Absence of grabbing or sitting was observed in 20% of patients. During follow-up, one person achieved supported sitting and one person achieved head holding. Only one patient was able to speak a few words. Cerebellar atrophy (two of 10), pons hypoplasia (four of 10), cortical atrophy (seven of 10), enlarged ventricles (10 of 10), thinning of the corpus callosum (10 of 10), hypomyelination (six of 10), and increased white matter signal intensity (six of 10) were the observed MRI findings. CONCLUSIONS: Progressive cerebral and cerebellar atrophy was demonstrated radiologically for the first time in a PCH10 cohort. It is of crucial importance to identify these patients promptly with the help of dysmorphic findings and spasticity being pronounced in the upper extremities. Furthermore, we note that phenotypic and neurological examination findings tend to change slightly over time.

Children With Type 1 Spinal Muscular Atrophy Are at Increased Risk for Nephrolithiasis.

BACKGROUND: Nephrolithiasis is not a well-documented condition in children with spinal muscular atrophy (SMA). It is possible that this condition was underestimated before the era of nusinersen because of a much shorter life expectancy. We present our observational data on nephrolithiasis and its possible risk factors in children with type 1 SMA. METHODS: We retrospectively reviewed the charts of 20 children with genetically confirmed type 1 SMA. Thirteen patients (aged 9 to 55 months) who underwent urinary tract ultrasonography were included in the study. Medical records were retrospectively reviewed for demographic and clinical characteristics, ultrasound results, and metabolic abnormalities. RESULTS: Seven children (54%) had nephrolithiasis; 5 had multiple stones and two had a single stone. Two patients had microlithiasis (<3 mm), three had a stone in the size of 3 to 5 mm, and one had a stone in the size of more than 8 mm. Two patients with nephrolithiasis had urinary tract abnormalities. Patients with nephrolithiasis were more likely to have a history of urinary tract infections (UTIs) (P = 0.048) and higher urine specific gravity (P = 0.014) than patients without nephrolithiasis. Five of seven children with nephrolithiasis had a urine metabolic evaluation; all had hypercalciuria, three had hyperuricosuria, but none had hyperoxaluria, hypocitraturia, or hypomagnesemia. CONCLUSION: Children with SMA type 1 are at an increased risk for nephrolithiasis. Hypercalciuria and high urine specific gravity appear to be the most common risk factors for the occurrence of nephrolithiasis. In addition, UTI is more common in patients with type 1 SMA with nephrolithiasis.

A multicenter study of radiologically isolated syndrome in children and adolescents: Can we predict the course?

OBJECTIVES: To evaluate clinical characteristics, imaging features and etiological profile of Radiologically Isolated Syndrome (RIS) along with clinical and radiological follow-up. METHODS: Demographic, clinical and radiological data of patients younger than 18 years fulfilling the criteria for RIS were retrospectively analyzed. RIS was defined by the detection of lesions meeting the revised 2010 McDonald Criteria for dissemination in space on magnetic resonance imaging (MRI) in the absence of any symptoms of demyelinating disease or an alternative cause for the MRI findings. RESULTS: There were total 69 patients (38 girls, 31 boys). The median age at index MRI was 15.7 years, and median follow-up time was 28 months. The most common reason for neuroimaging was headache (60.9%). A first clinical event occurred with median 11 months in 14/69 (20%) of cases. Those with oligoclonal bands (OCB) in cerebrospinal fluid (CSF) and follow-up longer than 3 years were more likely to experience a clinical event (p<0.05): 25% of those with OCB manifested clinical symptoms within the first year and 33.3% within the first two years compared to 6.3% and 9.4%, respectively in those without OCB. Radiological evolution was not associated with any variables: age, sex, reason for neuroimaging, serum 25-hydroxyvitamin D level, elevated IgG index, OCB positivity, total number and localization of lesions, presence of gadolinium enhancement, achievement of 2005 criteria for DIS and duration of follow-up. CONCLUSION: Children and adolescents with RIS and CSF OCB should be followed-up for at least 3 years in order to detect any clinical symptoms suggestive of a demyelinating event. Because disease-modifying treatments are not approved in RIS and no consensus report justifies their use especially in pediatric RIS, close follow-up of OCB-positive patients is needed for early recognition of any clinical event and timely initiation of specific treatment.

Serum Levels of Neuropeptides in Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep.

BACKGROUND: Epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) is a syndrome of childhood, characterized by diffuse or generalized spike-wave activity in electroencephalography during non-rapid eye movement sleep. Neuropeptides have been demonstrated in several studies to function in the sleep-wake cycle and display convulsant and anticonvulsant features. In this study, we aimed to investigate the relationship between EE-SWAS and neuropeptides such as dynorphin, galanin, ghrelin, leptin, melatonin, and orexin. METHODS: This multicenter study was conducted from July 2019 to January 2021. There were three groups: Group 1 contained patients with EE-SWAS. Group 2 consisted of patients with self-limited focal epilepsy of childhood (SeLFE), and group 3 was the control group. Levels of neuropeptides were compared in the sera of these three groups. RESULTS: There were 59 children aged between four and 15 years. Group 1 contained 14 children, group 2 contained 24 children, and group 3 contained 21 children. The level of leptin is higher and the level of melatonin is lower in group 1 than in group 3 (P = 0.01 and P = 0.005, respectively). In group 3, the level of orexin was lower than in both groups 2 and 3 (P = 0.01 and P = 0.01). CONCLUSIONS: These data show that the level of leptin was higher and the level of melatonin was lower in patients with EE-SWAS than in the control group. Furthermore, patients with EE-SWAS had lower orexin levels than both the control group and patients with SeLFE. Further research is required to understand the potential role of these neuropeptides in the pathophysiology of EE-SWAS.

The effects of online exercise training on physical functions and quality of life in patients with pediatric-onset multiple sclerosis.

BACKGROUND: Patients with pediatric-onset multiple sclerosis (PwPOMS) frequently experience motor, sensory, and cognitive problems. Although exercise is known to be effective in adult patients with MS, there are still no studies investigating the effectiveness of exercise in PwPOMS. To examine the effectiveness of online exercise training on physical activity, muscle strength, functionality, gait, fatigue, and quality of life in PwPOMS. METHODS: Twenty-one individuals were included and randomly divided into two groups. The online exercise training program (OETP) group received exercise training including aerobics, strengthening, and balance training for 8 weeks, and the control group received no intervention. Outcomes were assessed at baseline, 8 weeks, and 32 weeks. RESULTS: Significant improvements were recorded in physical activity, muscle strength, functionality, gait, fatigue, and quality of life in the OETP group after treatment (p<0.05). Between groups, the OETP group was superior to the control group in terms of physical activity, muscle strength, functionality, and quality of life (p<0.05). The OETP group remained superior to the control group in follow-up. CONCLUSION: OETP performed under the supervision of a physiotherapist is effective in PwPOMS. Even if these patients have no disabilities, it would be beneficial to refer them to rehabilitation from an early period.

Ocrelizumab in pediatric multiple sclerosis.

BACKGROUND: Ocrelizumab is a recombinant humanized anti-CD20 monoclonal IgG1, approved by FDA and EMA for adult patients with multiple sclerosis (MS). The data on the efficacy and safety of Ocrelizumab for pediatric MS cases are limited. OBJECTIVE: Here, we describe pediatric relapsing-remitting MS (P-RRMS) cases who were treated with Ocrelizumab as a disease-modifying drug. METHOD: P-RRMS cases who were started Ocrelizumab below 18 years-of-age and followed-up >12 months with Ocrelizumab treatment were included. The primary end-points were annualized relapse rate (ARR) and magnetic resonance imaging (MRI) activity (new/enlarging T2 lesions and new gadolinium (Gd) enhancing lesions). The secondary end-points were the percentage of patients who remain relapse-free and/or free from Gd enhancing lesions, Expanded Disability Status Scale (EDSS) score, and the safety profile of Ocrelizumab. RESULTS: Of 18 P-RRMS cases receiving Ocrelizumab, 10 patients fulfilled the inclusion criteria for our study. The median duration of follow-up under Ocrelizumab was 28,3 months (min: 15 months, max: 46 months). Mean ARR decreased from 2.01 (±0.71) to 0 during the follow-up of Ocrelizumab treatment (P < 0.0001). None of the patients had MRI activity during the treatment. Mean EDSS decreased from 1.75 (±1.09) to 1.20 (±0.63) from the initiation of Ocrelizumab to the last follow-up of the patients (P = 0.024). None of the patients had serious side effects, except one patient who experienced anaphylaxis. CONCLUSION: Ocrelizumab can be considered a safe and effective treatment option in highly active P-RRMS.

Assessment of myelin oligodendrocyte glycoprotein antibodies and magnetic resonance spectroscopy in childhood-onset systemic lupus erythematosus.

OBJECTIVES: Systemic lupus erythematosus (SLE) is a chronic inflammatory disease characterised by the presence of various autoantibodies. Mild cognitive impairment developing in patients without significant neuropsychiatric (NP) symptoms was thought to be the result of immune-mediated myelinopathy. We aimed to determine the role of myelin oligodendrocyte glycoprotein antibody (MOG-Ab) in the neurological manifestations of childhood-onset SLE (cSLE) and if there is a correlation between various metabolite peaks in magnetic resonance spectroscopy (MRS) and myelinopathy. METHODS: MOG-Ab levels were studied in all healthy subjects (n=28) and in all patients with (NPSLE=9) and without (non-NPSLE=36) overt neuropsychiatric manifestations. Twenty patients (all had a normal-appearing brain on plain magnetic resonance) in non-NPSLE and 20 subjects in healthy group met the MRS imaging standards for evaluation in which normal appearing brain on plain MR. RESULTS: A total of 45 cSLE (36 non-NPSLE and 9 NPSLE) subjects and 28 healthy children were recruited to the study. The mean age of the SLE patients at study time was 16.22±3.22 years. MOG-Ab was not detected in cSLE or in healthy group. There was no significant difference between the non-NPSLE group and healthy subjects in terms of choline, N-acetyl aspartate (NAA), creatine, NAA/creatine, and choline/creatine. CONCLUSIONS: There was no association of MOG-Ab with cSLE, whether NP manifestations were present or not. A causal relationship between immune-mediated myelinopathy and cognitive impairment could not be suggested, since there has been no patient with positive MOG-Ab and there has been no difference in choline, choline/creatine between groups.

The effects of nusinersen treatment on respiratory status of children with spinal muscular atrophy.

BACKGROUND: Respiratory involvement is the main factor predicting the prognosis of spinal muscular atrophy (SMA). Significant responses in motor functions have been demonstrated with nusinersen, but pulmonary outcomes are still varied. We aimed to explore the effects of nusinersen on the respiratory functions of patients with SMA. METHODS: Patients with SMA who were receiving regular nusinersen treatment in our tertiary care hospital were enrolled in this study. We evaluated the patients in terms of the necessity to ventilatory or nutritional support, presence of motor involvement and other comorbidities related with prognosis at three consecutive assessments. RESULTS: The study group consisted of 43 patients (18 type 1, 12 type 2, and 13 type 3) with SMA with a mean age of 27.8 months at diagnosis and 60.8 months at the beginning of nusinersen treatment. The respiratory function improvements were noted in six patients at third assessment. Early initiation of nusinersen was significantly correlated with reduced hospital admissions (P = 0.026). Nutritional support and weight gain were remarkable in the ventilatory-supported group. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were significantly higher in the non-tracheostomized group in patients with SMA type 1 (P < 0.005). CONCLUSIONS: We posit that nusinersen may change the natural prognosis of SMA and improve care of children with SMA. Following up children with SMA for longer periods under nusinersen may be beneficial for understanding the effects of treatment. Results of our study need to be supported by future long-term studies to reach a consensus on nusinersen, considering the overall genetic and environmental status as well as the cost-effectiveness of the treatment.

Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes.

BACKGROUND: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. AIM: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. METHOD: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Türkiye. Clinical and paraclinical features were compared between patients with disease onset before 12 years (earlier onset) and ≥12 years (later onset) as well as between our current (2015-2021) and previous (<2015) cohorts. RESULTS: A total of 634 children (456 girls) were enrolled, 89 (14%) were of earlier onset. The earlier-onset group had lower female/male ratio, more frequent initial diagnosis of acute disseminated encephalomyelitis (ADEM), more frequent brainstem symptoms, longer interval between the first two attacks, less frequent spinal cord involvement on magnetic resonance imaging (MRI), and lower prevalence of cerebrospinal fluid (CSF)-restricted oligoclonal bands (OCBs). The earlier-onset group was less likely to respond to initial disease-modifying treatments. Compared to our previous cohort, the current series had fewer patients with onset <12 years, initial presentation with ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI. The female/male ratio, the frequency of sensorial symptoms, and CSF-restricted OCBs were higher than reported in our previous cohort. CONCLUSION: Pediatric MS starting before 12 years was less common than reported previously, likely due to exclusion of patients with antibody-mediated diseases. The results underline the importance of antibody testing and indicate pediatric MS may be a more homogeneous disorder and more similar to adult-onset MS than previously thought.

Are Interictal Discharges Associated with Neuronal Cell Loss in Electrical Status Epilepticus in Sleep?

OBJECTIVE: Neuron-specific enolase is an established biomarker of neuronal damage. This study aimed to reveal the relationship between serum neuron-specific enolase level and continuous interictal discharges in a group of encephalopathy with electrical status epilepticus in sleep patients for the first time and determine whether there is a neuronal cell loss or damage. MATERIALS AND METHODS: We analyzed serum neuron-specific enolase levels in patients with an electrical status epilepticus in sleep pattern on their electroencephalographs with age- and sex-matched control subjects. Patients with a spike-wave index of at least 50% and acquired neuropsychological regression were included in the study. Magnetic resonance imaging of all electrical status epilepticus in sleep patients and control subjects included in the study was within normal limits. Neuron-specific enolase is measured by the enzyme-linked immunosorbent assay kit based on the sandwich technique. RESULTS: In this study, 14 patients diagnosed with electrical status epilepticus in sleep and 21 healthy controls were included. The median age of electrical status epilepticus in sleep patients was 7.1 years (min-max: 4.5-10.7 years) and 7.7 years (min-max: 3.2-14 years) in the control subjects. According to the results of serum neuron-specific enolase measurements, the mean ± standard deviation level of neuron-specific enolase was 7.61 ± 3.19 ng/dL for the electrical status epilepticus in sleep group and 6.93 ± 2.55 ng/dL for the control group. Serum neuron-specific enolase levels between electrical status epilepticus in sleep patients and the control group were not statistically significant (P = .749). CONCLUSION: No significant difference was observed in serum neuron-specific enolase levels between electrical status epilepticus in sleep patients and control subjects. Our results may indicate that frequent interictal discharges do not result in neuronal cell loss or damage in electrical status epilepticus in sleep patients.

Increased Frequency of Febrile Seizures in Two Periodic Fever Syndromes: Familial Mediterranean Fever and PFAPA Syndrome.

OBJECTIVE: Our aim in this study is to reveal the frequency of febrile seizures in patients with Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome and to compare it to normal population. MATERIALS AND METHODS: Patients with Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome, who were diagnosed accord- ing to Turkish pediatric Familial Mediterranean Fever diagnostic criteria and Marshall criteria, were enrolled to the study. A form containing questions about febrile seizures history was pre- pared for Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome patients. Demographic data and febrile seizures history of Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis patients were obtained by calling the parents by phone. Familial Mediterranean Fever patients were randomly selected during their routine follow-up. The frequency of febrile seizures in both disease groups was compared with the prevalence of previous febrile seizures studies in the general population in Turkey. RESULTS: A total of 417 Familial Mediterranean Fever and 152 Periodic Fever, Aphthous stomati- tis, Pharyngitis, cervical Adenitis subjects were recruited to the study. The frequency of febrile seizures in Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome was similar (8.4% vs. 8.6%; P > .05). The frequency of febrile seizures in Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome patients was found to be significantly higher than the frequency in general population (8.4% vs. 4.4%) [P < .0001, OR: 1.99 (CI: 1.4-2.8)]; (8.6% vs. 4.4%) [P < .01, OR: 2.03 (CI: 1.1-3.6)], respectively. CONCLUSION: The frequency of febrile seizures in patients with Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome was found to be significantly higher than in the general population. This increased frequency of febrile seizures in both periodic syndromes seems to be a result of recurrent fever.

Six-Minute Walk Performance and Related Factors in Pediatric-Onset Multiple Sclerosis.

OBJECTIVE: To investigate functional exercise capacity and its relationship between physical activity levels, muscle strength, balance, fatigue, and quality of life in patients with pediatric-onset multiple sclerosis. METHODS: Fifteen patients with pediatric-onset multiple sclerosis were included. The 6-minute walk test was used to determine functional exercise capacity and walking distance. The Godin Leisure-Time Exercise Questionnaire and pedometer were used to evaluate physical activity, Timed-Up and Go for dynamic balance, isokinetic testing for lower extremity muscle strength, Fatigue Severity Scale for fatigue, and the Pediatric Quality of Life Inventory (PedsQL) for quality of life. RESULTS: The 6-minute walking distance was positively correlated with GLTEQ and the School-Work subgroup score of the PedsQL-Self-report, and negatively correlated with Timed-Up and Go and Fatigue Severity Scale. Dynamic balance, physical activity, and fatigue were significant predictors of 6-minute walking distance. CONCLUSIONS: Our results showed that 6-minute walk test is influenced by physical activity, dynamic balance, and fatigue, and related to quality of life in patients with pediatric-onset multiple sclerosis.

Evaluation of inflammatory acquired demyelinating syndromes in children: a single-center experience.

To evaluate the clinical and neuroimaging features of pediatric acquired demyelinating syndromes (ADS) in a tertiary pediatric neurology clinic in Turkey. All children diagnosed with any subset of ADS between 2013 and 2018 were included in this retrospective cohort study. Forty-two patients (21 female) with a median follow-up period of 30 months were included. The median age of the patients at disease onset was 11 years (range 1.5-17 years). The most common pediatric ADS categories according to the International pediatric Multiple Sclerosis Study Group consensus classification criteria were acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS), each of which seen in 15 patients, followed by clinically isolated syndrome (CIS) (n = 11) and Neuromyelitis Optica Spectrum Disorder (NMOSD) (n = 1). At the first clinical event, children with ADEM significantly differed from the children affected by MS and CIS in terms of the following parameters: median age at onset (7 vs. 13.5 and 14.5 years; p < 0.001), encephalopathy (93.3 vs 0% and 0%; p < 0.001), and basal ganglia/thalamus lesions (73.3 vs 9.1% and 9.1%; p < 0.001). The frequency of seizure and pleocytosis were higher in ADEM group than MS group (p < 0.05), whereas oligoclonal bands (p < 0.001) and periventricular white matter lesions (p < 0.01) were more frequently observed in MS patients. Rituximab was used with great success in the prevention of relapses in 3 patients: NMOSD (n = 1), MS (n = 1) and ADEM followed by recurrent optic neuritis (n = 1). Our results define the longitudinal disease course of various ADS categories in a single referral center. In addition, this study compares various clinical, laboratory and neuroimaging features between these ADS categories.

Electrical status epilepticus in sleep: The role of thalamus in etiopathogenesis.

PURPOSE: In patients diagnosed with epilepsy, decreased ratio of N-acetyl aspartate to creatine (NAA/Cr) measured in magnetic resonance spectroscopy (MRS) has been accepted as a sign of neuronal cell loss or dysfunction. In this study, we aimed to determine whether a similar neuronal cell loss is present in a group of encephalopathy with electrical status epilepticus in sleep (ESES) patients METHODS: We performed this case-control study at a tertiary pediatric neurology center with patients with ESES. Inclusion criteria for the patient group were as follows: 1) a spike-wave index of at least 50%, 2) acquired neuropsychological regression, 3) normal cranial MRI. Eventually, a total of 21 patients with ESES and 17 control subjects were enrolled in the study. MRI of all control subjects was also within normal limits. 3D Slicer program was used for the analysis of thalamic and brain volumes. LCModel spectral fitting software was used to analyze single-voxel MRS data from the right and left thalamus of the subjects. RESULTS: The mean age was 8.0 ± 1.88 years and 8.3 ± 1.70 years in ESES patients and the control subjects. After correcting for the main potential confounders (age and gender) with a linear regression model, NAA/Creatine ratio of the right thalamus was significantly lower in the ESES patient group compared to the healthy control group (p = 0.026). Likewise, the left thalamus NAA/Cr ratio was significantly lower in the ESES patient group than the healthy control group (p = 0.007). After correcting for age and gender, right thalamic volume was not statistically significantly smaller in ESES patients than in healthy controls (p = 0.337), but left thalamic volume was smaller in ESES patients than in healthy controls (p = 0.024). CONCLUSION: In ESES patients, the NAA/Creatine ratio, which is an indicator of neuronal cell loss or dysfunction in the right and left thalamus, which appears regular on MRI, was found to be significantly lower than the healthy control group. This metabolic-induced thalamic dysfunction, which was reported for the first time up to date, may play a role in ESES epileptogenesis.

Restless legs syndrome in pediatric onset multiple sclerosis.

BACKGROUND: Restless legs syndrome/Willis-Ekbom disease (RLS/WED) was shown to have a high prevalence among adults with multiple sclerosis (MS). OBJECTIVE: We aimed to investigate the prevalence of RLS/WED and to define the disease characteristics in young patients with pediatric onset multiple sclerosis (POMS) METHOD: 50 patients with POMS were questioned for the presence of RLS/WED. The demographic, clinical and laboratory data were compared between POMS patients with and without RLS/WED, including the total number of clinical and/or radiological MS attacks, interval between first two attacks, EDSS, number of the hyperintense and/or contrast-enhancing lesions, localization of demyelinating lesions, IgG index in cerebrospinal fluid, oligoclonal band, serum ferritin, C-reactive protein, ratio of neutrophil to lymphocyte count, and 25­hydroxy vitaminD. RESULTS: Eleven patients (22%) had RLS/WED - mostly of moderate in severity (54.5%). Mean EDSS score was significantly higher in POMS patients with RLS/WED than those without (p = 0.003). The Ig G index was almost two times higher in POMS patients with RLS/WED, but it failed to reach to the statistically significant level (p = 0.073). CONCLUSION: Our study demonstrated high prevalence of RLS/WED in young patients with POMS. Higher EDSS scores in patients with POMS and RLS/WED indicates disease-related factors in the emergence of RLS/WED.