Search

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 (

© 2022 Elsevier Inc.Background: Congenital myasthenic syndromes (CMS) are composed of numerous hereditary disorders involving genetic mutations in proteins essential to the integrity of neuromuscular transmission. The symptoms of CMS vary according to the age at onset of symptoms, and the type and severity of muscle weakness. Effective treatment and genetic counseling depend upon the underlying pathogenic molecular mechanism and subtype of CMS. Methods: A retrospective and cross-sectional study was performed with 16 patients with a genetically confirmed diagnosis of CMS to share our experience with clinical symptoms, demographic data, genetic variants, and treatments applied. Results: Sixteen patients with a specific CMS genetic diagnosis (three novel mutations) were identified, including CHRNE (n = 7), DOK7 (n = 2), AGRN (n = 2), RAPSN (n = 1), CHRNA1 (n = 1), CHRNB1 (n = 1), CHAT (n = 1), and SCN4A (n = 1). Age at onset of symptoms ranged from the neonatal period to 12 years. Genetic diagnosis was confirmed between the ages of three months and 17 years. A significant delay was determined between the onset of symptoms and genetic diagnosis of the disease. Conclusions: This study highlights the importance of genetic testing in CMS. Due to the rarity of CMS, more cases will be recognized and reported as the use of laboratory and genetic testing accelerates. We hope that our experience will grow and contribute further to the literature as clinical follow-up and treatment increase.

© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1–3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians’ influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029). Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known:• Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections.• Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases.What is New:• Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly.• Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.

Purpose The purpose of this study was to evaluate the long-term results of eight cases diagnosed with tuberous sclerosis complex (TSC) and receiving rapamycin therapy because of epileptic seizures and/or accompanying TSC findings. Method Rapamycin therapy was initiated at a dose of 1.5 mg/m2. Seizure frequency, electroencephalographic (EEG) findings, renal and cranial imaging findings, and cutaneous lesions over 3- to 6-month periods during follow-up and treatment were evaluated. Results Four girls and four boys aged 4–16 years at the start of rapamycin therapy and now aged 9–24 years were evaluated. Duration of rapamycin therapy was 1–5 years, and the monitoring period after commencement of rapamycin therapy lasted 5–8 years. Positive effects were observed at 9–12 months in three out of six cases of renal angiomyolipoma (AML) and in the second year of treatment in one. An increase in AML dimensions was observed in three cases after treatment was stopped. Seizure control was established in the first year of rapamycin therapy in all cases. An increased frequency of seizures was observed in three cases after the second year of treatment. No seizure recurrence was determined in the second year of treatment with rapamycin in five out of eight cases. Recurrence of seizure was observed in 6–12 months after the discontinuation of rapamycin in three cases. Conclusion Rapamycin therapy exhibits positive effects on epileptic seizures in cases of TSC in 1–2 years but these positive effects on seizure control of rapamycin therapy decline after the second year. Larger case series are still needed to determine the duration and effectiveness of treatment in childhood.

Background Cerebral sinus venous thrombosis (CSVT) is a rare cerebrovascular disease that may be life-threatening, especially in children. Objective The purpose of this study was to assess the clinical presentation, radiologic imaging, underlying conditions, treatment, and outcomes of children with CSVT. Patients and methods In total, 23 consecutive children aged between 1 month to 18 years with CSVT, who were followed-up in Erciyes University Children's Hospital, were retrospectively enrolled in the study from January 2000 to December 2016. Results The median age of the 23 children (13 female patients, 10 male patients) at initial diagnosis was 60 months (1 to 204 mo). The most common clinical manifestation was headache/irritability (n=9). The most common site of the CSVT was the transverse sinus (n=16). The most common prothrombotic risk factor was protein C deficiency (n=4). Underlying risk factors were detected in 15 patients. Genetic risk factors such as protein C deficiency, infections, trauma, malignancies, autoimmune hemolytic anemia, neurometabolic disorders, asphyxia, and cardiac malformations were common risk factors. Six children died. Multiple sinus involvement and parenchymal hemorrhages were seen in 4 and in 3 of the 6 children who died, respectively. Conclusions Protein C deficiency seemed to be relatively high in the presented children. Multiple sinus involvement and additional parenchymal hemorrhages represent poor prognostic features.

Background Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the central nervous system (CNS). Objective The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes. Methods The data of 75,843 fetuses were screened for evaluation of complete ACC between 2003 and 2017, and a total of 109 cases with complete ACC were included in the study. ACC was considered isolated when no additional anomalies were detected, and ACC was considered complex when additional anomalies were present. Results The prevalence of complete ACC was 9.4 per 10,000 live births, and the incidence was ranged from 1.8 to 16.6 per 10,000 person-years. Patients with isolated ACC had a significantly higher survival when compared with patients with complex ACC (97.4%, n = 38/39 vs. 68.8%, n = 22/32, P = 0.001).The most important cause of death were congenital heart disease and/or respiratory failure during neonatal period. Developmental and intellectual disabilities were significantly higher in the complex ACC cases (P < 0.001). Postnatal neurodevelopmental outcomes were completely normal in 79.4% of cases with isolated ACC. Conclusions Isolated complete ACC is usually associated with a favorable outcome. The most important prognostic factors are the presence or absence of associated congenital anomalies.

Background: The skin is one of the most affected organs in tuberous sclerosis complex and angiofibromas are seen in almost 80% of such patients. These benign tumors impose a great psycho-social burden on patients. Objective: The aim of the study was to evaluate the effectiveness and tolerability of topical sirolimus for facial angiofibromas in patients with tuberous sclerosis complex. Methods: This was a prospective, single-blinded, cross-over study which involved twelve patients. We investigated the effect and safety of topical 0.1 % sirolimus, which was obtained by crushing sirolimus tablets and mixing it with petrolatum. The patients were asked to apply the cream to one side of their face, and vaseline to the other side. The effect of topical sirolimus was evaluated using the "facial angiofibroma severity index." Results: There was a significant improvement in the redness and extension of the tumors on the sides to which the active ingredient was applied. Some side effects such as itching and irritation occurred in three patients, which were treated with topical hydrocortisone cream. Conclusion: Topical sirolimus appears to be a promising, fairly well tolerated treatment for facial angiofibromas in patients with tuberous sclerosis complex. Although its efficacy diminishes with time, repetitive usage is effective.

Background Gastroesophageal reflux disease (GERD) can mimic epileptic seizure, and may be misdiagnosed as epilepsy. On the other hand, GERD can be more commonly seen in children with neurological disorders such as cerebral palsy (CP); this co-incidence may complicate the management of patients by mimicking refractory seizures. Objective The purpose of our study was to evaluate the clinical features, definite diagnoses and treatment approaches of the patients with clinically suspected GERD who were referred to the division of pediatric neurology with a suspected diagnosis of epileptic seizure. We also aimed to investigate the occurrence of GERD in children with epilepsy and/or CP. Methods Fifty-seven children who had a final diagnosis of GERD but were initially suspected of having epileptic seizures were assessed prospectively. Results All patients were assigned to 3 groups according to definite diagnoses as follows: patients with only GERD who were misdiagnosed as having epileptic seizure (group 1: n =16; 28.1%), those with comorbidity of epilepsy and GERD (group 2: n =21; 36.8%), and those with the coexistence of GERD with epilepsy and CP (group 3: n =20; 35.1%). Five patients (8.8%) did not respond to anti-reflux treatment and laparoscopic reflux surgery was performed. The positive effect of GERD therapy on paroxysmal nonepileptic events was observed in 51/57 (89.5%) patients. Conclusions GERD is one of the important causes of paroxysmal nonepileptic events. In addition, GERD must be kept in mind at the initial diagnosis and also in the long-term management of patients with neurological disorders such as epilepsy and CP.

Autism spectrum disorder (ASD) is characterized by repetitive stereotypic behaviors, restricted interests, social withdrawal, and communication deficits. Aggression and insensitivity to pain are largely unexplained in these cases. We analyzed nine mRNA expressions of the candidate genes related to aggression and insensitivity to pain in the peripheral blood of patients with ASD. Whole blood samples were obtained from 40 autistic patients (33 boys, 7 girls) and 50 age- and sex-matched controls (37 boys and 13 girls) to isolate RNA. Gene expression was assessed by quantitative Real-Time PCR (qRT-PCR) in the Erciyes University Genome and Stem Cell Center (GENKOK). All of the gene expressions except CRHR1 and SLC6A4 were found to be statistically different between the ASD patients and controls. Gene expression also differed according to gender. Alterations in the mRNA expression patterns of the HTR1E, OPRL1, OPRM1, TACR1, PRKG1, SCN9A and DRD4 genes provide further evidence for a relevant effect of the respective candidate genes on the pathophysiology of ASD. Future studies may determine the sensitivity of these candidate markers in larger samples including further neuropsychiatric diagnosis.

PurposeTo evaluate diffusion characteristics of tubers and white matter lesions in children with tuberous sclerosis (TS) using diffusion tensor imaging (DTI).Materials and methodsEighteen children (11 male, 7 female; mean age 9.3years, age range 1–16years) with a definite diagnosis of TS were recruited in this study. Apparent diffusion coefficient (ADC), fractional anisotropy (FA), radial diffusivity (RD), and axial diffusivity (AD) values in 89 tubers and 37 white matter lesions were measured and compared with those of contralateral normal regions.ResultsADC, AD, and RD values were significantly higher and FA values were lower in lesions, than the ones measured in contralateral normal regions for tubers (P

Tangier disease (TD) is a rare, autosomal recessive inherited disorder caused by a mutation in the adenosine triphosphate-binding cassette transporter 1 (ABCA1) gene, which results in a decrease in plasma high-density lipoprotein (HDL) levels. Peripheral neuropathy can be seen in approximately 50% of patients with TD, which usually occurs after the age of 15 years, and is characterized by relapsing-remitting mono- or polyneuropathy or syringomyelia-like neuropathy. Herein, we report a 16-year-old female patient who was initially diagnosed with peripheral neuropathy at the age of 13 years. Whole exome sequencing was performed, and a nonsense mutation (p.Arg1817X) in ABCA1 was identified. The patient was investigated for systemic findings of TD after the genetic diagnosis was made, and low (< 5 mg/dL) levels of HDL cholesterol were detected by lipid electrophoresis. Other family members were reexamined after the diagnosis of the proband, and asymptomatic sister of the proband was diagnosed with TD. We would like to emphasize that TD should be considered in the differential diagnosis of pediatric patients presenting with peripheral neuropathy; furthermore detection of HDL levels by lipid electrophoresis is a simple but indicative diagnostic test.

The aim of this study was to investigate the relationship between autism spectrum disorders development and exposure to mono-(2-ethylhexyl)-phthalate (MEHP), di-(2-ethylhexyl)-phthalate (DEHP), and bisphenol A (BPA), 1 of the endocrine disruptors, among phthalates. The study included 48 children with autism spectrum disorder (27 boys, 21 girls) and 41 healthy subjects (24 boys, 17 girls) as controls. Serum MEHP, DEHP, and BPA levels were measured by using high-performance liquid chromatography. Children with autism spectrum disorder had significantly increased serum MEHP, DEHP, and BPA concentrations (0.47 +/- 0.14 mu g/ml, 2.70 +/- 0.90 mu g/ml, 1.25 +/- 0.30 ng/ml) compared to healthy control subjects (0.29 +/- 0.05 mu g/ml, 1.62 +/- 0.56 mu g/ml, 0.88 +/- 0.18 ng/ml) respectively (P = .000). The fact that higher serum MEHP, DEHP, and BPA were found levels in the autism spectrum disorder group compared to healthy controls suggests that endocrine disruptors may have a role in the pathogenesis of autism spectrum disorders.

The aim of this study is to investigate the spectrum of underlying disease in children with torticollis. We investigated the spectrum of underlying disease and to evaluate the clinical features of the children presented with torticollis in the last 2 years. Of the 20 children (13 girls and 7 boys with the mean age of 8 years, ranging 2 months–12 years), eight of them have craniospinal pathologies (cerebellar tumors in three, exophytic brain stem glioma, eosinophilic granuloma of C2 vertebra, neuroenteric cyst of the spinal cord, Chiari type 3 malformation, arachnoid cysts causing brainstem compression, and cerebellar empyema), followed by osseous origin in five (congenital vertebral anomalies including hemivertebrae, blocked vertebra, and segmentation anomalies), two muscular torticollis (soft tissue inflammation due to subclavian artery catheterization, myositis ossificans with sternocleidomastoid muscle atrophy), and ocular (congenital cataract and microphthalmia), Sandifer syndrome, paroxysmal torticollis, retropharyngeal abscess each in one patients were detected. Ten patients underwent surgery; two patients received medical therapy for reflux and benign paroxysmal torticollis; and one patient with torticollis due to muscle spasm and soft tissue inflammation was treated with physiotherapy. Various underlying disorders from relatively benign to life-threatening conditions may present with torticollis. The first step should be always a careful and complete physical examination, which must include all systems. Imaging must be performed for ruling out underlying life-threatening diseases in children with torticollis, particularly, if acquired neurological symptoms exist. Besides craniospinal tumors, ophthalmological problems and central nervous system infections should also be kept in mind. Moreover, early diagnosis of these disorders will reduce mortality and morbidity. Therefore, alertness of clinicians in pediatric and pediatric neurosurgery practice must be increased about this alert symptom.

Aim of the study: To investigate the frequency domain effects and changes in electroencephalography (EEG) signals in children diagnosed with attention deficit hyperactivity disorder (ADHD).Patients and methods: The study contains 40 children. All children were between the ages of 7 and 12 years. Participants were classified into four groups which were ADHD (n=20), ADHD-I (ADHD-Inattentive type) (n=10), ADHD-C (ADHD-Combined type) (n=10), and control (n=20) groups. In this study, the frequency domain of EEG signals for ADHD, subtypes and control groups were analyzed and compared using Matlab software. The mean age of the ADHD children's group was 8.7 years and the control group 9.1 years.Results: Spectral analysis of mean power (V-2) and relative-mean power (%) was carried out for four different frequency bands: delta (0--4 Hz), theta (4--8 Hz), alpha (8--13 Hz) and beta (13--32 Hz). The ADHD and subtypes of ADHD-I, and ADHD-C groups had higher average power value of delta and theta band than that of control group. However, this is not the case for alpha and beta bands. Increases in delta/beta ratio and statistical significance were found only between ADHD-I and control group, and in delta/beta, theta/delta ratio statistical significance values were found to exist between ADHD-C and control group.Conclusion: EEG analyzes can be used as an alternative method when ADHD subgroups are identified.

PubMedID: 28694135 Objective To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. Methods Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology centers throughout Turkey. Earlier-onset (

The aim of this study was to discuss the MR imaging findings of pseudotumor cerebri in children by comparing with healthy controls.Forty-two pseudotumor cerebri patients from hospital records between 2003 and 2011 were retrospectively reviewed. Between 2007 and 2011 25 patients (16 boys, 9 girls) whose brain MR images were on PACS workstation were included. Thirty MR imaging examinations (14 boys, 16 girls) which were interpreted as normal constituted the control group. Two pediatric radiologists reviewed each MRI for optic nerve sheath distension, intraocular protrusion of the optic nerve, posterior globe flattening, horizontal tortuosity of the optic nerve, and decreased pituitary gland size. The sensitivity, specificity, and overall accuracy of the findings on MRI were calculated.Optic nerve sheath enlarged in the PTC group (mean value, 4.3 mm) than in the control group (mean value, 3.2 mm). It had 88 % sensitivity and 80 % specificity. Pituitary gland size was decreased in PTC group (mean value, 3.63 mm) than in the control group (mean value, 5.05 mm). It had a sensitivity of 64 % and specificity of 90 %. Posterior globe flattening had 56 % sensitivity and 100 % specificity, intraocular protrusion of the optic nerve had 40 % sensitivity and 100 % specificity, and horizontal tortuosity of the optic nerve had 68 % sensitivity and 83 % specificity.According to our study, posterior globe flattening, intraocular protrusion of the optic nerve, horizontal nerve sheath tortuosity, optic nerve sheath distension, and decreased pituitary gland size are reliable neuroradiological diagnostic markers for pediatric pseudotumor cerebri.

Differential diagnosis of intracranial hemorrhage versus calcification on conventional magnetic resonance images (MRIs) is often challenging. Although computed tomography (CT) confirms calcification, phase information obtained during susceptibility-weighted imaging can be useful in distinguishing between 2 pathologies. Fourteen patients previously diagnosed to have hemorrhage or calcification with imaging were included in the study retrospectively. Phase shift values of hemorrhage and calcification were compared by using Student t test. The pathologies identified were tuberous sclerosis, Sturge-Weber syndrome, craniopharyngioma, congenital cytomegalovirus, subependymal hemorrhages, and hemorrhagic microembolic infarction. Calcifications appeared hypointense whereas hemorrhages were hyperintense on phase maps (left-handed magnetic resonance system). Statistical comparison of phase shift values yielded significant difference between hemorrhage versus calcification ( P < .01). Phase maps were found to offer valuable data to differentiate 2 pathologies when used complementary to conventional magnetic resonance images. Considering the relatively higher risks of radiation exposure in children, susceptibility-weighted imaging with phase maps may help to waive radiation exposure from CT.

Vitamin K deficiency bleeding is one of the most common causes of acquired hemostatic disorder in early infancy. Although vitamin K is practiced routinely after every birth in Turkey, children with type of vitamin K deficiency bleedings (L-VKDB) can be encountered. We aimed to evaluate the clinical features of the children with L-VKDB reported from Turkey. Between 1995 and 2013, 48 studies reporting 534 children with L-VKDB were evaluated in this study. Of the 534 reported children (178 girls, 356 boys), 486 (91 %) were extremely breastfed. The most common bleeding sites were intracranial hemorrhage, gastrointestinal, and umbilical in 414 (77.4 %), 33 (6.2 %), and 33 (6.2 %) children, respectively, and 35 (6.6 %) children had been diagnosed incidentally without any bleeding. The etiology of 399 (74.7 %) children were classified as idiopathic, whereas 135 (25.3 %) were secondary. Intramuscular vitamin K was administered in 248 (46.4 %), not administered in 228 (42.7 %), and the administration of vitamin K were not determined in 58 (10.9 %) children. The outcomes of Turkish cohort showed that 111 (20.8) children died, 257 (48.1 %) cases developed neurologic deficit (mainly epilepsy and psychomotor retardation), and only 166 (31.1 %) patients recovered without squeal. The compliance of prophylactic measures in Turkey does not seem to be satisfactory. As a further measure of tomorrow, we vigorously emphasize that a national surveillance program may be initiated. An additional intramuscular dose or oral supplementation of vitamin K especially for exclusively breast-fed infants may reduce this catastrophic problem in our country.

Background Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by attacks of fever with polyserositis. Objective The purpose of this study was to evaluate pediatric patients with FMF who had central nervous system (CNS) findings. Materials and Methods Our medical records database for 2003 to 2014 was screened retrospectively. In total, 104 patients with FMF were identified, 22 of whom had undergone neurological examination for CNS symptoms. Results Neurological findings included headache in 16 patients (72.7%), epilepsy in 6 patients (27.3%), pseudotumor cerebri in 2 patients (9.1%), tremor in 2 patients (9.1%), and multiple sclerosis in 1 patient (4.5%). The most common MEFV gene mutation was homozygous M694V (40.9%). Conclusions Patients with FMF can present with various CNS manifestations. Further studies that include large populations are needed to elucidate the neurological manifestations of FMF.

The purpose of this study was to investigate the prevalence and recurrence of febrile convulsion (FC) and risk factors for development of epilepsy in school children throughout in the Kayseri provincial center.Ten thousand individuals selected using "stratified cluster sampling" from a student population of 259,428 inside the Kayseri Urban Municipality represented the study sample. Fifteen thousand questionnaires were distributed, of which 10,742 (71.6%) were returned. Telephone interviews were performed with the families of the students reported as having undergone FC, and the medical records of patients with a history of hospitalization were evaluated. Data were analyzed on IBM SPSS Statistics 22.0 package program. Significance was set at p 0.05.Prevalence of FC was 4.2% in girls and 4.3% in boys, with a total prevalence of 4.3%. Recurrence of FC was observed in 25.4% of cases. Risk of recurrence increased 7.1 times in subjects with a history of FC in first and second degree relatives, 17.8 times in those with fever interval1 h before convulsion and 17.6 times in those with pre-convulsion body temperature39 °C. Epilepsy developed in 33 (7.2%) cases. Neurodevelopmental abnormality was the most important risk factor for epilepsy (21.1-fold risk increase).Analysis revealed that FC with a good prognosis had a high rate of recurrence and a higher risk of epilepsy than in the general population. The prevalence of FC in the province of Kayseri was closer to that in developed rather than developing countries.

Background:Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1.Methods:The study population included 33 pediatric NF1 patients (20 males and 13 females). Bone metabolic markers, such as total calcium, phosphorus, magnesium, alkaline phosphatase, parathyroid hormone, and 25-OH vitamin D, the urinary calcium/creatine ratio were measured. In addition, BMD was measured at both the lumbar spine (LS) and the femoral neck in all the patients.Results:All the patients had a low 25-OH vitamin D level, but it was significantly lower in the females than in the males (pConclusions:It is widely known that bone mineral metabolism markers and BMD are significantly affected in NF1 patients; however, the present study did not identify any effective parameters that could be used to predict skeletal abnormalities, or diagnose early osteoporosis and osteopenia in pediatric NF1 patients.

The purpose of this study was to determine of caudate nucleus changes in diffusion-weighted magnetic resonance imaging., Childs Nerv Syst. 2013 Jan;29(1):125-30. doi: 10.1007/s00381-012-1898-2. Epub 2012 Aug 28. Diffusion-weighted imaging in Sydenham's chorea. Gumus H, Gumus G, Per H, Yikilmaz A, Canpolat M, Poyrazoglu G, Narin N. Source Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. hakgumus@erciyes.edu.tr Abstract PURPOSE: The purpose of this study was to determine of caudate nucleus changes in diffusion-weighted magnetic resonance imaging. METHODS: A total of 13 children (four males and nine females) with history of Sydenham's chorea and 13 healthy controls were included in to the study. Diffusion cranial magnetic resonance imaging was performed in all subjects before prednisone treatment. Prednisone (2mg/kg/day, maximum dose 60mg/day) was used during 4weeks and then progressively discontinued (20% of the initial dose was reduced at each 5days). Two months later, magnetic resonance imaging was repeated. RESULTS: Before and after 8weeks of prednisone treatment, apparent diffusion coefficients (ADCs) were calculated for right and left caudate nucleus. The ADC values were significantly different before treatment and 2months after imaging. For the left caudate nucleus, ADC values before treatment (0.69 ± 0.038) were significantly lower than after treatment (0.95 ± 0.04). For the right caudate nucleus, ADC values before treatment (0.72 ± 0.06 × 10(-3)) were significantly lower than after treatment (0.93 ± 0.04 × 10(-3)). CONCLUSIONS: Although cranial and caudate nucleus magnetic resonance imaging findings were normal, the low ADC value findings in our study support the autoimmune inflammation in basal ganglia of Sydenham's chorea. &nbsp

Objective Autism spectrum disorders (ASDs) are a severe group of neurodevelopmental disorders that are characterized by impairment in social communication, and imagination and social interaction. The aetiology of autism is complex, but some studies suggest autoimmunity to the central nervous system in the pathogenesis. The aim of this study is to investigate the positivity of antineuronal antibodies including anti-glutamic acid decarboxylase antibodies (anti-GAD), anti-glutamate receptor (anti-GluR) antibodies and seven types of anti-ganglioside antibodies, in children with autism. Methods We conducted the study over a period of one year from May 2012 to December 2013. Human anti-GAD in serum were investigated with ELISA; human autoantibodies against the N-methyl-D-aspartate subtype of GluR were investigated with indirect immunofluorescence test; class IgG antibodies against the seven gangliosides were investigated with immunoblot assay. Results Serum antineuronal antibodies were measured in 42 children (24 male, 18 female) with autism in comparison to 21 (13 male, 8 female) healthy-matched children aged between 2-12 years. There was no seropositivity of antineuronal antibodies in either of the groups. Conclusion There is no evidence to support an association between autism and antibodies positivity of anti-GAD, anti-GluR and anti-gangliosides (Ref. 26).

Background: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare, life-threatening hypersensitivity drug reaction. Patients present with cutaneous rash, fever, lymphadenopathy, hematologic abnormalities with eosinophilia and atypical lymphocytes, and visceral organ involvement. The prognosis of DRESS syndrome is related to the degree of end-organ damage, and the mortality rate is approximately 10%. Case Report: We report a 9-year-old girl treated with only levetiracetam because of intracranial space occupying mass-related seizures. The patient developed pharyngitis accompanied by exudative membrane, bilateral cervical lymphadenopathy, tender hepatomegaly, skin rash, and fever after 19 days of levetiracetam therapy. Laboratory findings revealed leukocytosis, lymphocytosis with an atypical lymphocytosis, eosinophilia, thrombocytopenia, and elevated serum transaminases. Serologic studies of viruses were negative. The patient was diagnosed with DRESS syndrome and antiepileptic therapy was ceased immediately. The systemic signs and symptoms of the patient were improved after systemic steroid and antihistamine therapy. Why Should an Emergency Physician Be Aware of This?: It is important that emergency physicians be aware of the possibility of DRESS syndrome when attending children that present with clinical viral infections. We would like to emphasize that obtaining a careful and detailed medication history is an essential part of clinical assessment for the diagnosis of DRESS syndrome. (C) 2016 Elsevier Inc.

Objectives The purpose of this study was to characterize patients who were diagnosed with glucose transporter protein 1 deficiency syndrome (Glut1D), and also to assess the efficacy of ketogenic diet (KD) therapy on seizure control, cognitive functions, and other neurological disorders. Patients and Methods We studied six unrelated patients with the classical phenotype of Glut1D, focusing on clinical and laboratory features, the KD therapy and outcome over the 25-month follow-up period. Results Five patients became seizure-free with the onset of ketosis, and anticonvulsants were discontinued. Other neurological features such as ataxia, spasticity, and dystonia showed a less striking improvement than seizure control. There was no significant change in the intelligence quotient (IQ) level or microcephaly. In all patients, alertness, concentration, motivation, and activity resulted in a moderate improvement of variable degree. The early-onset adverse effects of KD were observed in five patients. The KD regimen failed in one patient, therefore, his diet was changed with an alternative to KD. Conclusions Treatment with KD resulted in a marked improvement in seizures and cognitive functions but its effect appeared to be less striking on the other neurological disorders of the patients. When the classic KD is not tolerated, an alternative to KD may be helpful.

This study aimed to determine the prevalence as well as psychosocial and demographic features of migraine and tension-type headache among school children between the ages of 7 and 17, and using the International Classification of Headache Disorders II. The study was conducted during the questionnaire phase and the interview phase. The prevalence of recurrent headache was 47.5%, whereas that of primary recurrent headache was 21%. The estimated prevalence rates of migraine and tension-type headache were 7.2% and 7.8%, respectively. Unilateral headache, throbbing-type headache, severe headache, and the severity of the headache with physical activity were specific for migraine. Headache was significantly higher in first-degree relatives of the children with migraine compared to the children with tension-type headache ( P < .0001). We determined the prevalence rates of migraine and tension-type headache and revealed the characteristics as well as the psychosocial and demographic features of migraine and tension-type headache. Sensitivity, specificity, and multivariate analysis were also evaluated.

WOS: 000353584100016, PubMed ID: 25015673, Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration. Diagnosis is made by polyglucosan inclusion bodies (Lafora bodies) shown in skin biopsy. Responsible mutations of Lafora disease involves either the EPM2A or NHLRC1 (EPM2B) gene. Mutations in the NHLRC1 gene are described as having a more benign clinical course and a later age of death compared with EPM2A mutations. We report 2 genetic mutations and clinical courses of Lafora disease in 3 adolescents with homozygote NHLRC1 mutation and novel homozygous EPM2A mutation.

Congenital pulmonary lymphangiectasia is a rare condition that may present antenatally with pleural effusions and hydrops, and the prognosis is reported to be very poor. Treatments for lymphangiectasia have included corticosteroids for patients with primary inflammatory conditions, dietary modifications, surgical resection for isolated lesions, octreotide, antiplasmin therapy and fibrin glue pleurodesis. However, there is no experience with pleurodesis by autologous blood therapy in the literature. We present a newborn with primary pulmonary lymphangiectasis who developed progressively profuse chylous pleural effusions after enteral full feeding from the 8th day of life and improved with pleurodesis by autologous blood therapy. Copyright (c) 2007 S. Karger AG, Basel.

Childhood brain abscesses are a rare and potentially life-threatening condition requiring urgent diagnosis and treatment. This retrospective study analyzed the clinical and radiologic findings of 24 (7 girl, 17 boys) cases with brain abscess. Mean age was 92.98 ± 68.04 months. The most common presenting symptoms were nausea-vomiting (45.8%) and headache (41.7%). Brain abscess was most commonly located in the frontal region. Diffusion restriction was determined in 78.4% of lesions. The mean apparent diffusion coefficient value in these lesions was 0.511 ± 0.23 × 10–3 mm2/s. Cultures were sterile in 40% of cases. Antimicrobial therapy was given to only 16.7% of cases. Predisposing factors were identified in 91.6% of cases (congenital heart disease in 20.8% and immunosuppression in 20.8%). Mortality level was 12.5%. In conclusion, immunocompromised states, and congenital heart disease have become an important predisposing factor for brain abscesses. Effective and prompt management should ensure better outcome in childhood.

The aim of this study was to present our experience with 5 cases of fetal schizencephaly in terms of prenatal diagnostic features, and postnatal outcome. The database of prenatal diagnosis unit was searched for antenatally diagnosed cases with schizencephaly. Maternal characteristics, ultrasonography, prenatal-postnatal magnetic resonance imaging (MRI) findings, and postnatal outcome were noted. Of 5 cases, 2 had definitive prenatal diagnoses on ultrasound and 3 cases were diagnosed by fetal MRI. All cases had cerebral cortical migration anomalies including polymicrogyria, subependymal heterotopia, and lissencephaly, and 2 cases had additional extracranial malformations. Three cases showed regression of the cerebral clefts on follow-up postnatal MRIs. Three cases had moderate to severe psychomotor retardation, and 1 case needed repeated ventriculoperitoneal shunt operation due to hydrocephaly. Prenatal diagnosis of schizencephaly with ultrasonography is not straightforward and required further evaluation with fetal MRI. Additional cerebral anomalies worsen the prognosis of schizencephaly.

Background Although stroke among children is rare, it can cause significant morbidity and mortality. We aim to share our experience of children with arterial ischemic stroke. Methods The initial symptoms, demographical features, risk factors, neurological examination, neuroradiological findings, and clinical follow-up data of 130 Turkish children seen between 2002 and 2013 were retrospectively analyzed. Results Sixty-eight patients were male. Thirty of the children were aged from 1 to 12 months (seven of them died in this period). Focal neurological signs were the most common presentation, and hemiplegia or hemiparesis were the most common focal signs. Underlying risk factors were detected in 103 patients. Infections and congenital heart disease were the most common risk factors. Seven of the nine children with recurrent arterial ischemic strokes had one or more underlying diseases (moyamoya disease in two children along with factor V Leiden mutation, tuberculous meningitis, congenital heart disease, homocystinuria, and hemiconvulsion-hemiplegia-epilepsy syndrome). The arterial ischemic stroke was located in the middle cerebral circulation in 68 (36 left and 32 right) and in the posterior cerebral artery in 41. Eighteen children died. The neurological outcome was assessed in 98 children. Of these children, 66 children have neurological deficits and 52 children have seizures. Stroke in the first year of life is more often fatal. Recurrent stroke is associated with poor prognosis. Conclusion Tuberculous meningitis is still a risk factor for arterial ischemic stroke in Turkey. Arterial ischemic stroke in the first year of life and recurrent arterial ischemic stroke represent poor prognostic features.

The aim of this study was to compare the efficacy and safety of different oral chloral hydrate and dexmedetomidine doses used for sedation during electroencephalography (EEG) in children. One hundred sixty children aged 1 to 9 years with American Society of Anesthesiologists physical status I-II who were uncooperative during EEG recording or who were referred to our electrodiagnostic unit for sleep EEG were included to the study. The patients were randomly assigned into 4 groups. In groups D1 and D2, patients received oral dexmedetomidine doses of 2 and 3 µg/kg, respectively. In group C1 and C2, patients received oral chloral hydrate doses of 50 and 100 mg/kg, respectively. The induction time was significantly shorter in group C2 compared with other groups ( P = .000). The rate of adverse effects was significantly higher in group C2 compared with the dexmedetomidine groups (D1 and D2; P = .004). In conclusion, dexmedetomidine can be used safely for sedation during EEG in children.

The aim of this study was to present our experience with six cases of fetal intracranial hemorrhage (ICH) in terms of prenatal diagnostic features, and postnatal outcome. The database of prenatal diagnosis unit was searched for antenatally diagnosed ICH cases. Maternal characteristics, ultrasound (US), and magnetic resonance imaging (MRI) findings, clinical course, and postnatal outcome were noted. We evaluated six consecutive cases of fetal ICH. One case was terminated at 24 weeks, and remaining five cases were delivered between 34 and 38 weeks. Five cases (5/6) had intraventricular, and one (1/6) had intraparenchymal hemorrhage. Hemorrhages were right sided in five cases (5/6), left sided in one case (1/6). Dilated and echogenic ventricular wall were the common US findings. No predisposing factor was detected in four of the cases, and intrauterine growth restriction was an underlying factor in two fetuses. Intrauterine progression of the hydrocephaly, and parenchymal thinning was seen in four cases (4/6). In three of four cases (3/4) with progressive grade 3–4 hemorrhage and hydrocephaly, postnatal outcome were dismal, and one case had mild neurological impairment at three months. In one case which had non-progressive mild ventriculomegaly, the lesion regressed after 4 weeks, and had normal short-term outcome Fetal ICH can be accurately identified and categorized by antenatal sonography, and fetal MRI. Although intrauterine regression or normal short-term postnatal outcome is possible, the outcome is usually poor for fetuses with high grade and/or progressive lesions. Therefore, further studies assessing long-term postnatal outcome are needed

Purpose Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in various organ systems. We would like share our experience from 86 patients and the results of rapamycin treatment in seven children with TSC. Methods Eighty-six children with TSC were enrolled into this retrospective study. The clinical features of seven children treated with oral rapamycin were presented in detail. Results The most common complaint of administration was convulsion in 77 children (89.5 %). Hypopigmented skin lesions, adenoma sebaceum, resistant epilepsy, intracardiac mass, renal angiomyolipomas, and West syndrome were detected (n = 83, 96.5 %; n = 47, 54.7 %; n = 36, 41.9 %; n = 27, 31.4 %; n = 18, 20.9 %; and n = 13, 15.1 %, respectively). Subependymal nodules were the most frequent finding in cranial imaging followed by cortical tubers and subependymal giant cell astrocytomas (n = 75, 87.2 %; n = 71, 82.6 %; and n =8 , 9.3 %, respectively). Of the seven patients treated with rapamycin, the lesions of six children with facial adenoma sebaceum showed regression in various degrees. The frequency of convulsions decreased in five patients with resistant epilepsy within the first 6 months of the treatment, and complete control of convulsion for all patients was achieved in the second 6 months. Conclusion This is the first study that showed that rapamycin is an effective agent for controlling epilepsy without any significant sideeffectinchildrenwithTSC. Rapamycin seems to be effective after 6 months of therapy, and we recommend tapering the dosage after successful management of epilepsy.

The aim of the present study is to evaluate the role of COL4A1/A2 mutations in the etiology of intraventricular hemorrhage (IVH) detected in-utero. The data of four cases with fetal IVH were analyzed retrospectively. Antenatal risk factors, clinical features, postnatal outcome, and the presence of COL4A1/A2 mutations were evaluated. Eight cases of fetal IVH were diagnosed between 2005 and 2012 in Erciyes University. Of these, four were eligible for genetic analysis. Mean gestational age at diagnosis was 30 weeks 5 day (min–max: 28–34 weeks); two cases had grade III hemorrhage and two cases had grade IV hemorrhage according to fetal magnetic resonance imaging. Three cases had severe neurodevelopmental delay and one case had mild deficit. In all cases, postnatal evaluation revealed no underlying cause, and no retinal hemorrhagia and hematuria were detected. The mean postnatal follow-up was 19 months, and no recurrent hemorrhages and porencephalic cyst formation were observed. The whole exome sequencing showed no pathological mutations of COL4A1 and COL4A2 in the four patients. Our data showed that fetal intraventricular hemorrhage is not associated with COL4A1 and COL4A2 mutations in the absence of porencephaly, recurrent hemorrhage, and other organ bleeding.

A clear cut genotype-phenotype correlation for Krabbe disease is not available. Therefore, it is important to identify new mutations and their associated phenotypes to predict the prognosis of the disease. The aim of this study is to identify the causative mutation(s) in a family with Krabbe disease. After a clinical evaluation and suspicion of Krabbe disease galactocerebrosidase activity was analyzed and GALC gene mutation analysis was performed. The galactocerebrosidase enzyme activity was 0.01 nmol/mg/h protein (normal range 0.8-4). For further investigation mutation screening was performed by Sanger sequencing across the 17 exons of GALC gene. A novel homozygous mutation c.727delT (p.S243QfsX7) was found. In this study we present the clinical findings along with a novel GALC mutation in a consanguineous Turkish family. Although the relationship between the various genotypes and phenotypes in Krabbe disease has not been fully elucidated an accurate genetic family study is helpful for genetic counseling follow-up and therapy of Krabbe disease. Also, it is important to identify new mutations in order to clarify their clinical importance, to assess the prognosis of the disease, and to suggest either prenatal diagnosis or preimplantation genetic diagnosis to the effected families. (C) 2012 Elsevier B.V. All rights reserved.

To determine the role of serum and urine selenium, and boron levels in children with resistant epilepsy.Serum and urine boron and selenium levels were studied in 53 cases (32 boys and 21 girls) diagnosed with resistant epilepsy between April 2006 and February 2007 at the Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey. Differences between groups were assessed using Student's t-test. Countable data were defined as percentage. Inter-group difference was assessed by Chi-square test. P-values less than 0.05 were considered significant.When serum and urine boron and selenium levels were evaluated and compare with controls, a statistically significant difference was found in serum selenium, urine selenium, and urine boron levels (p0.05). No significant difference was found in serum boron levels (p0.05).It was observed that there is a need for selenium supplementation in treatment of patients with resistant epilepsy, while no etiologic role is observed for boron.

Objective: Pseudotumor cerebri (PTC) is a clinical condition characterized by signs and symptoms of increased intracranial pressure, such as headache and papilledema. Our aim was to investigate the etiological and clinical features of pseudotumor cerebri (PTC) in children. Materials and method: We performed a comprehensive analysis of epidemiology, diagnostic work-up, therapy, and clinical follow-up in 42 consecutive patients. Results: Totally 42 patients diagnosed with PTC [27 (64.3%) females and 15, (35.7%) males] were included in the study. The average age of the symptoms onset was 10.79 +/- 3.43 years (range from 12 months to 17 years). Obesity was found in eleven (26.2%) of them. Two of the patients had familial mediterranean fever, two of them had posttraumatic PTC. The following diseases were one patient, respectively; mycophenolate mofetil-induced PTC, hypervitaminosis A induced PTC, corticosteroid induced withdrawal due to nephritic syndrome, use of oral contraceptives, Guillain-Barre syndrome, urinary tract infection, varicella-zoster virus infection and dural venous sinus thrombosis associated with otitis media. The most common symptom was headache, recorded in 76.2% of the patients. All patients were treated medically. Three patients in our group also required a ventriculoperitoneal shunt. Conclusion: Pseudotumor cerebri is an avoidable cause of visual loss, both in adults and children. Pre-pubertal obese girls are more common. Medical therapy appeared to be successful in treating pediatric PTC in most patients. Nevertheless, despite adequate treatment, children can rarely experience loss of visual field and acuity; thus, prompt diagnosis and management are important. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Guillain-Barré syndrome is a rapidly progressive symmetrical muscle weakness associated with acute inflammatory disease. Transverse myelitis (TM) is the inflammation of the spinal cord characterized by rapidly evolving muscle weakness in the lower extremities, defects in sensory level and sphincter dysfunction. Guillain-Barré syndrome, and TM association occurs very rarely in childhood. A 7-year-old girl presented with complaints of neck pain, spout-style vomiting, cough, shortness of breath, and acute paraparesis with sensory and sphincter disturbance. The patient was intubated because of increased respiratory distress. A positive direct fluorescein antigen test in bronchoalveolar lavage confirmed Legionella pneumophila infection. Imaging and neurophysiologic studies were diagnostic for TM with acute motor and sensory axonal neuropathy. She was treated with a combination of high-dose methylprednisolone and intravenous immunoglobulins, and we observed incomplete recovery. The presented case is the first child with concomitant TM and acute motor and sensory axonal neuropathy related to L. pneumophila infection.

Pseudotumor cerebri (PTC) is a syndrome characterized with increased intracranial pressure, normal cerebrospinal fluid content (CSF), and a normal brain on imaging studies. In this case report, PTC has been linked to mycophenolate mofetil (MMF) that has been used for autoimmune lymphoproliferative syndrome (ALPS)., INTRODUCTION: Pseudotumor cerebri (PTC) is a syndrome characterized with increased intracranial pressure, normal cerebrospinal fluid content (CSF), and a normal brain on imaging studies. In this case report, PTC has been linked to mycophenolate mofetil (MMF) that has been used for autoimmune lymphoproliferative syndrome (ALPS).CASE REPORT: A 5-year-old boy, who was using MMF for 4 months because of the ALPS, suffered from occipital headache and vomiting with no other symptom. The initial physical examination was normal expect bilateral papilledema. The patient underwent a lumbar puncture which showed elevated opening pressure (590 mmH²O) but no laboratory abnormalities of the CSF. A diagnosis of PTC was established. MMF was stopped, and the child was started on an acetazolamide treatment for 2 weeks. His symptoms and complaints recovered after this treatment.DISCUSSION: According to our knowledge, we report the first case of MMF-induced PTC in a boy with ALPS. This case illustrates that despite the rarity of MMF-induced PTC, the physicians should be aware of this possibility. Furthermore, in the setting of new-onset headaches or visual changes, early ophthalmologic examination for papilledema is recommended for early diagnosis.PMID:21305306[PubMed - indexed for MEDLINE]

Serious complications of central venous access occur in 0.4-9.9% of patients undergoing attempted central venepuncture. We report an unusual case of an 18-month-old infant in whom a right subclavian artery pseudoaneurysm developed rapidly after attempted subclavian vein catheterization without US guidance failed.

Eosinophilic granuloma (EG) is a benign and solitary bony lesion of unknown etiology, which typically affects children: 90% of patients are between the ages of 5 and 15 years. EG, a variant of histiocytosis X, is a rare disease causing destructive bony lesions of the cervical spine in children. This report describes the case of a 5-year-old boy with torticollis who presented to the Emergency Department and was found to have EG of C-6. He was successfully treated with anterior cervical corpectomy and fusion by using anterior plate and screws, with resolution of his symptoms. (C) 2008 Elsevier Inc.