Role of serostatus in pediatric neuromyelitis optica spectrum disorders: A nationwide multicentric study.

BACKGROUND: Neuromyelitis optica spectrum disorders (NMOSD) are immune-mediated inflammatory disorders of the central nervous system (CNS) mostly presenting as optic neuritis and acute myelitis. NMOSD can be associated with seropositivity for aquaporin 4 antibody (AQP4 IgG), myelin oligodendrocyte glycoprotein antibody (MOG IgG), or can be seronegative for both. In this study, we retrospectively examined our seropositive and seronegative pediatric NMOSD patients. METHOD: Data were collected from all participating centres nationwide. Patients diagnosed with NMOSD were divided into three subgroups according to serology: AQP4 IgG NMOSD, MOG IgG NMOSD, and double seronegative (DN) NMOSD. Patients with at least six months of follow-up were compared statistically. RESULTS: The study included 45 patients, 29 female and 16 male (ratio:1.8), mean age 15.16 ± 4.93 (range 5.5-27) years. Age at onset, clinical manifestations, and cerebrospinal fluid findings were similar between AQP4 IgG NMOSD (n = 17), MOG IgG NMOSD (n = 10), and DN NMOSD (n = 18) groups. A polyphasic course was more frequent in the AQP4 IgG and MOG IgG NMOSD groups than DN NMOSD (p = 0.007). The annualized relapse rate and rate of disability were similar between groups. Most common types of disability were related to optic pathway and spinal cord involvement. Rituximab in AQP4 IgG NMOSD, intravenous immunoglobulin in MOG IgG NMOSD, and azathioprine in DN NMOSD were usually preferred for maintenance treatment. CONCLUSION: In our series with a considerable number of double seronegatives, the three major serological groups of NMOSD were indistinguishable based on clinical and laboratory findings at initial presentation. Their outcome is similar in terms of disability, but seropositive patients should be more closely followed-up for relapses.

Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study.

BACKGROUND: To evaluate the clinical features, demographic features, and treatment modalities of pediatric-onset chronic inflammatory demyelinating polyneuropathy (CIDP) in Turkey. METHODS: The clinical data of patients between January 2010 and December 2021 were reviewed retrospectively. The patients were evaluated according to the Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society Guideline on the management of CIDP (2021). In addition, patients with typical CIDP were divided into two groups according to the first-line treatment modalities (group 1: IVIg only, group 2: IVIg + steroid). The patients were further divided into two separate groups based on their magnetic resonance imaging (MRI) characteristics. RESULTS: A total of 43 patients, 22 (51.2%) males and 21 (48.8%) females, were included in the study. There was a significant difference between pretreatment and post-treatment modified Rankin scale (mRS) scores (P < 0.05) of all patients. First-line treatments include intravenous immunoglobulin (IVIg) (n = 19, 44.2%), IVIg + steroids (n = 20, 46.5%), steroids (n = 1, 2.3%), IVIg + steroids + plasmapheresis (n = 1, 2.3%), and IVIg + plasmapheresis (n = 1, 2.3%). Alternative agent therapy consisted of azathioprine (n = 5), rituximab (n = 1), and azathioprine + mycophenolate mofetil + methotrexate (n = 1). There was no difference between the pretreatment and post-treatment mRS scores of groups 1 and 2 (P > 0.05); however, a significant decrease was found in the mRS scores of both groups with treatment (P < 0.05). The patients with abnormal MRI had significantly higher pretreatment mRS scores compared with the group with normal MRI (P < 0.05). CONCLUSIONS: This multicenter study demonstrated that first-line immunotherapy modalities (IVIg vs IVIg + steroids) had equal efficacy for the treatment of patients with CIDP. We also determined that MRI features might be associated with profound clinical features, but did not affect treatment response.

Characteristics and clinical value of early electroencephalography (EEG) after a first unprovoked seizure in children.

OBJECTIVE: This study aimed to examine the timing and features of electroencephalography (EEG) as a predictor of seizure recurrence in children with a first unprovoked seizure. METHODS: We retrospectively evaluated the medical records and EEG recordings of pediatric patients who presented within 24 h of a first unprovoked seizure between January 2018-December 2019 and had at least 1 year of pediatric neurology clinical follow-up. RESULTS: The study included 108 patients (53.7% males) with a mean age of 98.75±57.75 months. Sixty-eight patients (63%) had an abnormal initial EEG, of which 55 (80.9%) were focal. The semiology of the first unprovoked seizure was focal in 50% of the patients and correlated with initial EEG findings (p<0.001). Forty-three patients had seizure recurrence during the follow-up period of mean 26.86±7.39 months. Recurrence was observed in the first 6 months in 30 patients and occurred twice in 4 patients. An abnormal EEG after the first unprovoked seizure was found to be an independent risk factor for recurrence, with a 2.42-fold higher recurrence risk in patients with focal EEG abnormalities compared to those with a normal EEG (p = 0.044). Analysis of 7 different timing patterns up to 96 h after the first unprovoked seizure showed that EEG timing was not associated with abnormality detection. DISCUSSION: Our study showed that EEG abnormalities, especially focal abnormalities, after a first unprovoked seizure are a predictor of seizure recurrence. But the rate of detection of EEG abnormalities was not related to the timing of EEG recording, relative to seizure occurrence.

Aspects of autism spectrum disorder and correlation with neuroimaging findings in tuberous sclerosis complex.

BACKGROUND: Tuberous sclerosis complex (TSC) patients may have different specific neuropsychological deficits related to the location of the tubers. Autism spectrum disorders (ASD) are common in TSC patients but the relationship between these diagnoses has not been formally explored. In this study we sought to examine brain Magnetic Resonance Imaging (MRI) findings in TSC patients with ASD. METHODS: We evaluated 34 TSC patients on the basis of DSM-V diagnostic criteria for ASD, Wechsler Intelligence Scale for Children (WISC-R), psychiatrist's examination and also structured parent interviews. The number and localization of the tubers, postcontrast signal characteristics of the tubers, SWI findings, DWI findings on brain MRI were recorded. Demographic features, epilepsy histories, number of antiseizure medications, cognitive status were eveluated also. Patients were divided into two groups: ASD group, which represented group 1 and group 2 consisting of patients without any ASD symptoms. RESULTS: In our study, the mean number of tuber count was 21.8 in patients with ASD patients (Group 1, n = 13) and 12.4 in other TSC patients without ASD (Group 2, n = 21). Rate of tubers in prefrontal cortex/whole tubers (0.51) in patients with ASD was determined to be higher in group 1 (p = 0.003). Also a significant difference was detected between generalize epileptiform activities on EEG and the rate of DRE (p = 0.002; p = 0.001) between groups. Cognitive disturbances and infantile spasm history were similar between groups. TSC2 mutations have been identified in 29 (86%) patients. CONCLUSION: The mean of total tuber count and the rate of the location in the prefrontal cortex were determined to be higher in TSC patients with ASD. Specific areas on brain MRI may help understanding the development of ASD in TSC patients.

Clinically mild encephalitis/encephalopathy with a reversible splenial lesion of the corpus callosum in childhood: a single-center experience.

BACKGROUND: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a rare clinicoradiological syndrome that typically presents with central nervous system symptoms such as loss of consciousness, seizure, headache, and ophthalmoparesis. METHODS: Here, we highlight the characteristics of this syndrome together with the clinical and MRI findings of 6 pediatric patients with MERS. RESULTS: Between January 2017 and October 2020, 6 patients with MERS (3 boys and 3 girls) presented to our center. The mean age was 122 ± 54.6 (min-max: 44-180) months. None of the patients had a chronic disease. In our study, infectious agents were detected in 4 patients (66.6%), while noninfectious causes (one seizure and the other hyponatremia) were detected in two patients. All of our cases were discharged without any sequelae after an average of 12.1 ± 7 (min-max: 4-20) days of hospitalization. In 1 patient (case 6), control MRI could not be performed, and the radiological recovery of our other patients was shown to be between 14 days and 2 months. DISCUSSION: MERS is an acute encephalopathy with good prognosis and should be considered by neurologists in differential diagnosis due to its variable clinical presentation and specific MRI findings.

Evaluation of clinical and electroencephalographic findings in patients with early childhood epilepsy and inborn errors of metabolism.

INTRODUCTION: Epilepsy is one of the leading chronic diseases of childhood, and an underlying IEM is an etiology that can easily be overlooked. The aim of this study was to determine the frequency of metabolic disease in patients diagnosed with epilepsy in the first two years of life, as well as to determine the clinical, radiological, and electroencephalographic (EEG) characteristics of the metabolic disease subtypes associated with epilepsy and evaluate treatment response in our study. MATERIALS AND METHODS: The records of patients diagnosed with epilepsy before the age of 2 years in our pediatric neurology clinic between 2014 and 2021 were reviewed retrospectively. Those diagnosed with an IEM and followed up in the pediatric neurology and pediatric metabolism departments of our hospital were included in the study. RESULTS: A total of 990 patients under the age of 2 years were diagnosed with epilepsy in the pediatric neurology clinic of our hospital and 74 (7.5%) of them had IEM. Thirty-nine (52.7%) of the 74 patients were female. The median age at admission was 144 days (min-max: 0-284). Of the 74 patients diagnosed with metabolic epilepsy, 38 patients were diagnosed with amino acid metabolism disorder, 17 with lysosomal storage disease, 9 with energy metabolism disorder, 5 with vitamin/cofactor/trace element metabolism disorders, 2 with fatty acid metabolism disorder, 2 with peroxisomal disease, and 1 with carbohydrate metabolism disorder. Epilepsy was refractory despite appropriate treatment in 39 patients (52.7%). CONCLUSION: Inborn errors of metabolism are a rare cause of epilepsy, in regions like our country with high rates of consanguineous marriage, IEM should be considered in patients presenting with seizures that do not respond to conventional antiepileptic treatments.

Is the Early Diagnosis of Pediatric Stroke Possible in the Emergency Department?

BACKGROUND AND PURPOSE: Pediatric stroke is a neurological emergency. Knowing the predictive clinical markers for childhood stroke will help in early diagnosis and patient management. This study aims to (1) evaluate patients admitted to the pediatric emergency department (PED) with acute neurological signs and/or symptoms who underwent neuroimaging and (2) determine the clinical warning signs for the early recognition of stroke. METHODS: One hundred one patients aged 1 month to 18 years who were admitted with stroke-related neurological signs and symptoms and underwent neuroimaging in the PED were retrospectively analyzed using the file record system. As a result of these imaging tests, the characteristics of patients with stroke and nonstroke were compared. RESULTS: The mean age of the 92 included patients was 10.7 (SD, 4.5) years. Among the admission symptoms of the patients, a significant difference was observed only in terms of speech disorder, whereas a significant difference was found in the examination results for altered consciousness and dysarthria. The incidences of hemiplegia and hemiparesis were higher in the stroke group, but they were not statistically significant. The median duration of time from symptom onset to PED admission was 240 minutes (interquartile range, 30-1440 minutes). The mean time from PED admission to magnetic resonance imaging in the stroke group was 2.3 (SD, 0.7) hours, which was significantly shorter than for the nonstroke group (4.9 [SD, 1.2] hours, P = 0.002). CONCLUSIONS: Childhood stroke is a neurological emergency that requires a multidisciplinary approach. Early stroke diagnosis is vital for treatment and prognosis. With respect to sudden neurological deficits, particularly dysarthria, altered consciousness, hemiplegia, and hemiparesis, should alert clinicians to stroke. In addition, interdepartmental cooperation is essential both in the rapid recognition of stroke and the treatment and follow-up processes.

Longitudinally extensive transverse myelitis in childhood: Clinical features, treatment approaches, and long-term neurological outcomes.

AIM: Longitudinally extensive transvers myelitis (LETM) is a rare and disabling condition in childhood. The aim of the present study was to share experiences from our center regarding the treatment features and clinical and radiologic course in our LETM patients in light of the literature data. MATERIAL AND METHOD: The study was designed as cross-sectional and included children who followed for LETM at our pediatric neurology clinic between 2010 and 2019. ATM was diagnosed according to the diagnostic criteria report from the Transverse Myelitis Consortium Working Group. LETM was defined as the presence of spinal cord lesions spanning a length of 3 or more consecutive vertebral segments. The patients' medical records were examined in terms of demographic characteristics, presenting symptoms, history of infection prior to and during LETM, prodromal history, neurological examination, laboratory and radiological findings, clinical course, and treatment. The Barthel Index was used to assess the physical independence in activities of daily living of patients with LETM who were followed for at least one year. RESULTS: A total of 15 (8 girl) patients were included in the study. The patients were between 1 and 17 years of age. Presenting symptoms included inability to walk in 12 patients, incontinence in 9 patients, low back pain in 4 patients, abdominal pain in 2 patients, and inability to use the arms in 2 patients. In Barthel Index assessment of physical independence in activities of daily living, 8 patients were evaluated as completely independent, 3 patients as moderately dependent, and 2 patients as slightly dependent. When the 4 patients with motor area impairment and moderate dependency according to the Barthel Index were examined, it was noted that all of them had been admitted 4 days after the onset of symptoms and that 2 (13.3%) had cervicothoracic involvement and 2 (13.3%) had involvement of the entire cord. CONCLUSION: Shorter delay from symptom onset to initiation of immunomodulatory therapy as well as effective rehabilitation resulted in favorable outcomes, with the most noticeable improvement in the areas of motor function and incontinence.

Evaluation of the Anxiety Level of Mothers of Children with Epilepsy during the COVID-19 Pandemic Period.

BACKGROUND AND AIM: Although anyone can be affected by the COVID-19 pandemic, it may cause additional concern for people with chronic conditions. Epilepsy is the most common neurological disease in childhood and adolescence. The aim of this study was to determine anxiety levels among the mothers of children under follow-up for epilepsy in our clinic during the COVID-19 pandemic. METHODS: The study group consisted of the mothers of epilepsy patients who were under follow-up in the pediatric neurology outpatient clinic of the tertiary care center and were scheduled for a routine examination during the COVID-19 pandemic. The mothers' anxiety levels according to the Beck Anxiety Inventory and their opinions about COVID-19 in relation to their child were assessed and compared based on whether the mother/patient attended their appointments in person and whether the child had frequent or infrequent seizures. RESULTS: There was no statistically significant difference in anxiety level between the mothers of 64 children with epilepsy who attended their appointment during the pandemic and those of the mothers of 52 who did not attend their appointment. However, the mothers of children with frequent seizures had significantly higher anxiety levels. CONCLUSION: Anxiety level of mothers whose children have frequent seizures was significantly higher compared to mothers whose children have infrequent seizures. It is important to be aware about this point and using telemedicine approach in suitable population and postpone routine outpatient follow-up appointments as much as possible.

Acute necrotizing encephalopathy of childhood: a single-center experience

Background/aim: Acute necrotizing encephalopathy is a rare type of acute encephalopathy characterized by multi-ocal brain lesions and associated severe neurological findings and various organ dysfunctions may accompany it. Materials and Methods: Patients with acute necrotizing encephalopathy of childhood diagnosed by pediatric neurology and pediatric intensive care at Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital between 2007 and 2020 were included in this study. Results: Nine patients (six females, three males) with a mean age of 4.05 ± 1.94 years (age range 1­6.5) were included in this study. The interval range between fever and encephalopathy in patients was 1­4 days. Influenza A (3H1N1, one untyped) was detected in four patients, influenza B in three patients, and no cause was found in two patients. Major clinical findings other than febrile encephalopathy in all patients were a hemodynamic shock in seven patients, seizures in six patients, vomiting in five patients, dystonia in three patients, and flaccid paralysis in the upper extremity in one patient. Despite all our treatment approaches, including plasmapheresis, moderate to severe neurological sequelae was observed in all of our patients, who survived even with significant radiological improvement. Three patients for whom we could not perform plasmapheresis died. Conclusion: Our study revealed that thalamic involvement increased as the interval shortened, and brainstem involvement increased in patients over four years of age. The presence of persistent vomiting accompanying encephalopathy during the parainfectious period and plasmapheresis treatment being a treatment option that could prevent mortality were cautionary for our study.

Evaluation of the clinical characteristics of children with autism spectrum disorder and epilepsy and the perception of their parents on quality of life.

BACKGROUND AND AIM: Autism spectrum disorder (ASD) is among the serious clinical pictures of early childhood, and its main symptoms are qualitative dysfunction in social interactions with impairment of verbal and nonverbal communication and limitations in interests and activities. METHODS: This study aimed to examine the clinical conditions that mediate this comorbidity, compare parental quality of life in isolated ASD and ASD with epilepsy, demonstrate the relationships between clinical and EEG findings obtained in diagnostic evaluation, and examine the results in light of the literature. RESULTS: The study sample consisted of 154 ASD patients; 26 were girls (16.9 %) and 128 (83.1 %) were boys. Of the patients with epilepsy, seizures were focal in 14 patients (9.1 %), generalized in 9 patients (5.8 %), and unspecified in 1 patient (0.6 %). Intellectual ability was found to be a significant predictor of epilepsy diagnosis. Mean (SD) total scores in the Quality of Life in Autism Questionnaire were 131.84 (10.68) among mothers of children with ASD-epilepsy and 148.33 (14.03) among mothers of children with ASD alone (P < .001). CONCLUSION: Many psychiatric and medical conditions can co-occur with ASD. Determining the prognostic criteria for ASD is of great importance in coordinating lifelong autism rehabilitation. Improving autism-specific symptoms will benefit children with ASD as well as help mitigate parental anxiety.

Spike-Wave Index Assessment and Electro-Clinical Correlation in Patients with Encephalopathy Associated with Epileptic State During Slow Sleep (ESES / CSWS); Single-Center Experience.

PURPOSE: This study aimed to describe the electroclinical spectrum and neurocognitive outcome in children with epileptic encephalopathy with status epilepticus during sleep (ESES) according to the EEG patterns. METHODS: Records of 48 (19 males, 29 females) patients with ESES/CSWS syndrome were retrospectively evaluated for data on sleep and awake EEGs, psychometric tests, and brain MRI. Patients with a spike-wave index (SWI) of at least 50 % in the NREM sleep EEG were included in the study. Electrophysiologic findings were separated into two groups based on SWI: SWI>85-100 % (typical ESES) and SWI < 85 % (atypical ESES). The neurocognitive prognosis was also evaluated in two groups; favorable and unfavorable. RESULTS: The median age at the onset of ESES was 6 years and 5 months and ranged from 3 to 13 years. The median duration of follow-up after the ESES diagnosis was 57 months (range 24-150 months). Etiology was evaluated in three groups: symptomatic/structural, idiopathic, and unknown (cryptogenic). Twenty-seven (56.25 %) patients had atypical ESES patterns and 21 patients (43.75 %) had typical ESES patterns. Twenty-eight patients (58.3 %) had cognitive deterioration. Long term neurocognitive outcome was unfavorable in half of the patients. Symptomatic/structural etiology was more common in patients with unfavorable (p < 0.001) outcomes. The median age at the diagnosis of ESES (p < 0.001) was significantly earlier in the patients with unfavorable neurocognitive outcomes. The longer duration of ESES(p < 0.001), and the longer time between the onset of epilepsy and ESES (p = 0.039) was significantly associated with unfavorable outcomes. We found that patients with typical ESES had a higher risk for poor neurocognitive outcomes than patients with atypical ESES (OR: 31.096 [1.565-617.696]). CONCLUSION: The long-term outcome of ESES is exceedingly variable. An unfavorable neurocognitive outcome seems to be related to ESES with a long-duration and early-onset epileptic activity, SWI ≥ 85 %, and etiology.

Pediatric headache: Are the red flags misleading or prognostic?

BACKGROUND: Symptoms and findings called orange or red flags may indicate the etiology of pediatric headaches and may point to a life-threatening situation requiring urgent treatment and thus can alter patient management. These findings can be either misleading or prognostic for clinicians. We aimed to identify the etiology and prognostic value of orange/red flags in pediatric patients. METHODS: This study included 810 children with headaches who underwent neuroimaging due to the existence of orange/red flags. Their hospital records were examined to obtain demographical, clinical, laboratory data, and re-classify the headaches and determine orange/red flags on admission. RESULTS: Secondary causes were identified in 17.0% (n: 138) of patients, however, those who were diagnosed with a life-threatening headache that required emergency treatment were 5.2% of all patients and 30.4% of the patients diagnosed with a secondary headache. Those with secondary headaches and with life threatening secondary headaches which required urgent treatment were younger (p = 0,018, p = 0,022), had more emergency department visits (p < 0,001), and acute onsets (p < 0,001). Red flags, like systemic symptoms (p < 0,001), sudden onset (p = 0,023, p = 0.039), papilledema (p < 0,001), and progressive headaches (p = 0,048, p = 0.006), were more common with secondary headaches and its subgroup, while headache awakening from sleep (p = 0.009) and family history of primary headache (P > 0,001) were more common in primary headaches. No correlation existed between the number of red flags and etiology. However, older age (p = 0,001) and a shorter duration between symptoms and admission (p = 0,032), and the number of emergency service visits (p = 0,020) increased with increasing red flags. CONCLUSIONS: Physicians always look for flags when they encounter patients with headaches, which is a common symptom, so as not to overlook anything. However, red flags do not always mean that the underlying cause requires emergency treatment and the severity of the cause is not correlated with the number of flags.

An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.

BRAT1-related neurodevelopmental disorders are characterized by heterogeneous phenotypes with varying levels of clinical severity. Since the discovery of BRAT1 variants as the molecular etiology of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL, OMIM 614498), these variants have also been identified in patients with milder clinical forms including neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS, OMIM 618056), epilepsy of infancy with migrating focal seizures (EIMFS), and congenital ataxia (CA). This study aims to examine the consequences and pathogenicity of a novel homozygous splice site variant in BRAT1 in a patient presenting with migrating focal seizures since birth without prominent rigidity. The patient was born from a consanguineous marriage and has had seizures since the neonatal period. He presented with dysmorphic features, pontocerebellar hypoplasia, and migrating focal seizures. Despite supportive treatment, his symptoms rapidly progressed to intractable myoclonic seizures, bouts of apnea and bradycardia, and arrest of head growth, with no acquisition of developmental milestones. Clinical exome sequencing yielded a novel homozygous splice variant in BRAT1. Genetic analysis based on reverse transcription of the patient's RNA followed by PCR amplifications performed on synthesized cDNA and Sanger sequencing was undertaken, and the functional effect of a BRAT1 variant on splicing machinery was demonstrated for the first time. The severe clinical presentation of migrating focal seizures and pontocerebellar hypoplasia in the absence of rigidity further expands the genotypic and phenotypic spectrum of BRAT1-related neurodevelopmental disorders.

Serum Thiol-Disulphide Levels in Epileptic Pediatric Patients.

BACKGROUND: Epilepsy is a serious clinical condition characterized by recurrent seizures. Oxidative stress plays an important role in the etio-pathogenesis of epilepsy. Measurements of serum thiol and disulfide levels were used to evaluate the antioxidant status of the body. OBJECTIVE: The aim of this study was to determine serum levels of thiol and disulfide in epileptic pediatric patients. METHODS: Ninety patients, 54 epilepsy and 36 controls were included in the study. Serum levels of native thiol total thiol and disulfide were measured and disulfide/native, disulfide / total thiol and native thiol/ total thiol ratios were calculated. Hence, the ratios of disulfide/ native thiol, disulfide / total thiol and native thiol/ total thiol were calculated. RESULTS: Serum levels of native thiol, total thiol and disulfide were significantly lower in the epilepsy group than the control group. The ratio of disulfide/native thiol and disulfide / total thiol were significantly higher in the study group than the control group. As well as, the native thiol / total thiol ratio was lower in the epilepsy group than the control group. Native thiol, total thiol and disulfide were significantly lower in the epilepsy group who were taking anti-epileptic drugs than those who were not taking anti-epileptic drugs. CONCLUSION: We demonstrated a meaningful relationship between oxidative stress markers and epilepsy in pediatric patients.

Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia.

Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.

Neurological manifestations of atypical celiac disease in childhood.

Various typical and atypical neurological manifestations can be seen as the initial symptoms of celiac disease (CD). We suggest that gluten toxicity is the most suspicious triggering risk factor for probable pathophysiological pathways of neurological involvement in atypical CD. The medical charts of 117 patients diagnosed with atypical CD were retrieved from a tertiary center in Ankara, Turkey. Eight patients reported as having neurologic manifestations as initiating symptoms were evaluated in detail. The initial neurological manifestations of CD in our study included atypical absence, which was reported first in this study, generalized tonic-clonic seizures, complex partial seizures, severe axial hypotonia and down phenotype, multifocal leukoencephalopathy, mild optic neuritis, attention deficit hyperactivity disorder, and short duration headaches. Seizures mostly emphasizing atypical absence could be the initial presentation manifestation of CD, first described in this literature. Gluten toxicity could be one of the most powerful triggering factors for developing epilepsy in CD. Learning disorders such as attention deficit hyperactivity disorder, short duration headaches, mild optic neuritis, encephalopathy, and DS could also be the initial neurological manifestations of atypical CD. A gluten-restricted diet may improve neurological complaints, epileptic discharges, and neuropsychiatric symptoms. All we found may be a small part of the full range of neurological disorders of unknown origin related to CD. Clinical suspicion should be the rule for accurate diagnosis of the disease.

The effects of risk factors on EEG and seizure in children with ADHD.

Attention-deficit hyperactivity disorder (ADHD) is one of the most commonly seen developmental disorders in childhood. Its etiology, however, is not well known even though bio-psycho-social reasons have been thought to play a big role. The aims of this retrospective study are to identify the risk factors of ADHD in patients diagnosed with ADHD in childhood, analyze the relationship between clinical symptoms and risk factors to which they were exposed and determine their effects on prospective electrophysiological findings. Longitudinal cohort study of all children with ADHD treated at Ankara University Medical University during 2007-2012, with follow-up to ascertain risk factors and seizure and EEG abnormalities outcome. Multinominal univariate logistic regression analysis was used to calculate adjusted risk ratios (RRs) and 95% confidence intervals (CIs) for associations. Epileptiform discharges were found in 32 (22.9%) of the 140 ADHD patients. Of these, 71.9% had focal epileptiform discharges and 28.1% had generalized epileptiform discharges. The focal epileptiform discharges were most prevalent from the rolandic area. Among the 140 patients, 20 (14.3%) had a previous history of seizure, and all twenty had epileptiform discharges on EEG whereas none of the patients who had normal EEG had a seizure history. The rates of epileptiform discharges were significantly related to gestational age and asphyxia (RR: 1.8, 95% CI 0.3, 9.3; RR: 9.6, 95% CI 2.3, 40, respectively), whereas the rates of epilepsy were related to asphyxia but not gestational age. History of asphyxia and prematurity do seem to increase the risk of EEG abnormality in patients with ADHD. Modification of these environmental risk factors by evidence-based prevention programs may help to decrease the burden of ADHD.

Neurological findings spectrum in Celiac disease.

We aimed to provide early diagnosis by determining possible Celiac disease related subclinical or symptomatic neurological abnormalities in children in order to decrease risk of mortality and morbidity. Children with Celiac disease were assessed with neurological examination, neurophysiological tests and neuroimaging. A total of 65 patients were included in the study. The neurological examination was abnormal in 4 patients. There were EEG abnormalities in 5 patients, VEP was abnormal in 7 patients, BAER was abnormal in 1 patient, ENMG was abnormal in 8 patients, and there were abnormal findings on neuroimaging in 2 patients. The Celiac disease related neurological complications that manifest in adulthood usually lay their foundations in childhood. Therefore, it must be kept in mind that subclinical neurological abnormalities may be related to Celiac disease, and Celiac disease may be the underlying cause in the patients with overt neurological abnormalities in childhood.

A celiac case mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Celiac disease (CD) is a chronic disease involving a number of systems in addition to gastrointestinal tract. Although not clear, it has been supposed that the neurological symptoms of CD develop due to immune-mediated mechanisms. In this paper, we present a rare case diagnosed with CD at 12 years of age, and presented with a clinical picture resembling mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). She had onset of her neurological symptoms at the age of 6 years, they progressed despite various therapies, and she became wheelchair-bound.