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.

Obstructive sleep apnea syndrome and autonomic dysfunction in Duchenne muscular dystrophy.

PURPOSE: Cardiac and respiratory involvement constitutes serious complications of Duchenne muscular dystrophy (DMD). We hypothesized that obstructive sleep apnea syndrome (OSAS) may play a role in cardiac autonomic dysfunction in DMD. We sought to assess the presence of cardiac autonomic function in patients with DMD by analyzing heart rate variability (HRV) during polysomnography (PSG). METHODS: In a prospective study, all participants had whole-night PSG recorded and scored according to American Academy of Sleep Medicine guidelines. HRV analysis was performed on electrocardiography recordings from PSG recordings. RESULTS: Twelve consecutive males with DMD (mean age 9.0 ± 3.1 years, mean BMI 20.6 ± 4.8 kg/m2) and eight age-matched healthy males were enrolled. On clinical evaluation, 58% of patients with DMD had at least one symptom related to OSAS, such as snoring, witnessed apnea, or restless sleep. None of the controls had OSAS-related complaints. By PSG none of the controls had OSAS, while 42% of patients with DMD had OSAS (p = 0.004). Average R-R duration and mean percentage of successive R-R intervals > 50 ms values were significantly lower in patients with DMD than those in controls (p < 0.006). In patients with DMD and OSAS, LF/HF (low/high-frequency) ratio was significantly increased in NREM sleep compared with those in controls (p = 0.005). Higher apnea-hypopnea index and lower oxygen saturation showed significant correlations with higher LF power and LF/HF ratio (p < 0.001). CONCLUSION: Cardiac autonomic dysfunction is present in DMD, being more pronounced in the presence of OSAS.

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.

Biallelic mutations in the TRAPPC12 gene are responsible for early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS). To date, three different allelic variants have been reported. Next-generation sequencing allowed discovery of unique alternations in this gene with different phenotypes. We report two patients carrying TRAPPC12 variants, one previously reported and one unknown mutation, with severe neurodevelopmental delay and brain atrophy. Standard clinical examination and cranial imaging studies were performed in these two unrelated patients. In addition, whole-exome sequencing was performed, followed by Sanger sequencing for verification. The first patient, a 2-year-old boy, was found to be homozygous for the previously reported c.1880C > T (p.Ala627Val) mutation. He presented with a phenotype including severe progressive cortical atrophy, moderate cerebellar atrophy, epilepsy, and microcephaly, very similar to the previously reported cases. The second case, a 9-year-old boy, carried a novel homozygous c.679T > G (p.Phe227Val) variant and presented with mild cortical atrophy, severe cerebellar atrophy, and neither clinically manifest epilepsy nor microcephaly, which were previously considered typical findings in PEBAS with TRAPPC12 mutations. Our findings suggest that clinical and brain imaging findings might be more variable than previously anticipated; however, a larger number of observations would benefit for broader phenotypic spectrum.

The relationship between epileptic seizure and melatonin in children.

OBJECTIVE: Studies about the relationship between epileptic seizures (ESs) and melatonin are limited in children and have been performed in heterogeneous patient groups and with different methods. In this study, it was planned to investigate this relationship according to seizure and epilepsy characteristics. MATERIAL AND METHODS: In 91 children with ES, serum melatonin levels were measured within half an hour following the seizure and on a seizure-free day. Seizures were categorized according to the diagnosis, semiology, etiology, duration, electroencephalography (EEG) findings, and response to treatment. Melatonin levels were compared between each group and control group. In addition, basal melatonin levels of 21 patients with electrical status epilepticus in sleep (ESES) were compared with a control group. RESULTS: Basal melatonin levels were found to be lower in children with ESs and ESES group compared with the control group (p < 0.001, p < 0.001). Likewise, similar results were obtained in subgroups except for remote symptomatic etiology, severe EEG findings, and refractory epilepsy. No significant difference was observed between basal and postseizure levels of melatonin. CONCLUSION: This is the first study to reveal the relationship between ESs and basal melatonin levels according to all the characteristics of seizure and epilepsy in the largest patient group. It also demonstrates the need for more detailed studies on the role of melatonin in the pathogenesis of both ESs and ESES, which may provide a basis for a future treatment.

Panayiotopoulos syndrome and Gastaut syndrome are distinct entities in terms of neuropsychological findings.

BACKGROUND: Although the courses of self-limited focal epilepsies of childhood are considered as benign, a handful of studies suggested that these children may suffer from cognitive problems. Implementing tailor-made educational strategies would aid these children to reach their full potentials. Therefore, it is crucial to understand and differentiate the complete neuropsychological and behavioral profiles of these rather common syndromes. We aimed to examine the distinct cognitive and behavioral profiles of the Panayiotopoulos syndrome (PS) and the Gastaut syndrome (GS), comparatively. METHOD: Twenty patients with PS, 20 patients with GS, and 20 healthy controls have been recruited. The testing protocol included Wechsler Intelligence Scale for Children-Revised, Conner's Continuous Performance Test, Verbal Fluency Test, Stroop Color and Word Test, Color Trails Test, Tower of London Test, Symbol Digit Modalities Test, California Verbal Learning Test-Children's Version, Rey Complex Figure Test, Benton Face Recognition Test, Benton Judgment of Line Orientation, Peabody Picture Vocabulary Test, Reading and Writing Test, Child Behavior Checklist, Conner's Parent Rating Scale-48, and Behavior Rating Inventory of Executive Function. Demographical, clinical, electrophysiological data, and imaging findings have also been evaluated. RESULTS: With regard to intelligence, the patients with PS scored less in all scales compared to the healthy controls. However, only the performance IQ (intelligence quotient) scores differed significantly between the patient groups, with the patients with PS scoring lower than the patients with GS. Verbal memory problems were eminent in both of the patient groups; whereas, visual memory was impaired only in the group with PS. Psychomotor speed was affected in both groups. Reading problems were prominent only in the patients with PS. Writing and arithmetic skills were defective in both patient groups. There were no noteworthy behavioral problems in comparison to healthy subjects. CONCLUSION: Using neuropsychological profiles, this study demonstrated that the GS and the PS are two distinct entities. Cognitive dysfunction is a more prominent and widespread feature of the patients with PS; whereas, the patients with GS suffer only from milder and isolated cognitive problems.

Risk factors associated with epilepsy development in children with cerebral palsy.

OBJECTIVES: Epilepsy is one of the most common and important comorbidity among patients with cerebral palsy (CP). The purpose of this study was to determine the risk factors predicting the development of epilepsy considering prenatal, perinatal, and natal characteristics; associated impairments; and cranial imaging findings in our patient population with cerebral palsy at a tertiary center in Istanbul, Turkey. METHODS: This retrospective study consisted of 234 children aged between 3 and 18 years of age. Children were divided into two groups as CP patients with epilepsy (126 patients) and CP patients without epilepsy (108 patients). Demographic features and clinical and cranial magnetic resonance imaging (cMRI) findings were compared between the two groups. RESULTS: Presence of family history of epilepsy, history of neonatal seizure especially in the first 72 h of life, quadriplegic type of CP, severe degree of gross motor function and fine motor disorders, and moderate to severe mental retardation or psycho-social developmental delay were determined as risk factors for the development of epilepsy in CP patients. Also, an increased risk of epilepsy was detected in term infants and appropriate for gestational age (2500-4000 g) infants. On the other hand, presence of parental consanguinity, being born from a primiparous mother, age of mother at birth, mode of delivery, presence of multiple gestation and labor problems, history of follow-up in neonatal intensive care unit and intubation, and cMRI findings were not significant risk factors for the development of epilepsy in CP. CONCLUSION: Predicting epilepsy development by determining the risk factors in patients with CP might be useful because knowing the risk factors could provide close follow-up of these patients for epilepsy.

Hypothalamic hamartoma presenting with infantile spasms.

BACKGROUND: Hypothalamic hamartomas (HH) generally present with gelastic seizures. It is very unusual for a pediatric patient with HH to present with infantile spasms (IS). CASE PRESENTATION: Here we present a 6-month-old boy diagnosed with IS whose brain magnetic resonance imaging (MRI) showed an 18 × 18 × 16 mm mass in the hypothalamus. His seizures did not respond to antiepileptic treatment with vigabatrin and valproic acid. He had disconnective surgery for HH. Immediately postoperatively, his seizures subsided and he has now been seizure-free for 2 years. CONCLUSION: Although hypothalamic hamartomas generally present with gelastic seizures, they should also be considered in the differential diagnosis of infantile spasms.

A rare cause of upper airway obstruction: isolated demyelinating brainstem lesion.

Acute upper airway obstruction derived from any cause can be a life-threatening emergency in pediatric patients. The major causes are infection, foreign body aspiration, and trauma. However, acute neurological disorders occasionally may manifest as severe airway obstruction.In our case, we report a 10-year-old patient presenting with prominent upper airway obstruction requiring intubation and respiratory support. He also had fever, encephalopathy, and involvement of multiple cranial nerves. Cranial magnetic resonance imaging showed a hyperintense lesion covering all of the medulla oblongata on T2-weighted images and a lesion that was hypointense on T1-weighted images with no enhancement. Diffusion maps were normal. High-dose steroids and then intravenous immunoglobulin were given because these findings were mostly consistent with an inflammatory demyelinating process in the brainstem. A dramatic improvement was observed, and he was extubated on the 10th day. He completely recovered within 3 weeks without any neurological deficit.We emphasize that emergency physicians should be familiar with the airway manifestations of acute neurological disorders. Although rare, acute demyelinating brainstem disorders should be considered a part of the differential diagnosis of upper airway obstruction in children. Prompt recognition of this entity in light of additional neurological findings, neuroimaging, and other laboratory test results is critical. Early immunomodulatory treatment of these patients can be lifesaving.

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.

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.

Hoffmann's syndrome and pituitary hyperplasia in an adolescent secondary to Hashimoto thyroiditis.

BACKGROUND: Diffuse muscle hypertrophy is a rare complication of acquired hypothyroidism. When accompanied by stiffness, weakness, and painful muscle cramps, the condition is known as Hoffmann's syndrome (HS). HS is usually seen in young adults due to long-standing untreated primary hypothyroidism. We report a very rare case of HS with muscle hypertrophy and pituitary hyperplasia complicating hypothyroidism in an adolescent. CASE: A 12-year-old male admitted with muscle pain, headache, and fatigue. He had marked hypertrophy of both calf and shoulder muscles. Laboratory tests indicated elevated muscle enzymes and lipids with an elevated thyrotropin and low thyroxine levels. Hashimoto thyroiditis was confirmed on thyroid studies. He had also papilledema bilaterally and magnetic resonance imaging showed an enlargement of the pituitary gland. Treatment with thyroid hormone resulted in complete improvement of symptoms within 3 months. CONCLUSIONS: HS is a rare but treatable form of acquired myopathies and can be seen in children due to untreated hypothyroidism. All patients with an acquired myopathy and muscular pseudohypertrophy should be screened regarding thyroid hormones.

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.

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.

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.

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.

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.

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.