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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 (

Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients’ ocular manifestations to provide a basis for future clinical trials and improve MSS patients’ ophthalmologic care. Case description: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. The older sibling had developed bilateral cataracts at the age of six. Her 2 years younger sister interestingly showed bilateral hyperopic refractive error without cataracts yet. Mendeliome sequencing unraveled a novel homozygous frameshift mutation in the SIL1 gene ( SIL1, NM_022464.5, c.1042dupG, p.E348Gfs*4), causing MSS. A systematic literature review revealed that cataracts appear in 96% of MSS cases with a mean onset at 3.2 years. Additional frequent ocular features were strabismus (51.6%) and nystagmus (45.2%). Conclusion: SIL1-related MSS is associated with marked clinical variability. Cataracts can develop later than neuromuscular features and cognitive signs. Since cataract is a relatively late finding, patients may refer to ophthalmologists for other reasons such as refractive errors, strabismus, or nystagmus. Molecular genetic testing for SIL1 is essential to facilitate early diagnosis in patients with suspected MSS.

© 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.

BackgroundHuman coenzyme Q4 (COQ4) is essential for coenzyme Q10 (CoQ10) biosynthesis. Pathogenic variants in COQ4 cause childhood-onset neurodegeneration. We aimed to delineate the clinical spectrum and the cellular consequences of COQ4 deficiency.MethodsClinical course and neuroradiological findings in a large cohort of paediatric patients with COQ4 deficiency were analysed. Functional studies in patient-derived cell lines were performed.ResultsWe characterised 44 individuals from 36 families with COQ4 deficiency (16 newly described). A total of 23 different variants were identified, including four novel variants in COQ4. Correlation analyses of clinical and neuroimaging findings revealed three disease patterns: type 1: early-onset phenotype with neonatal brain anomalies and epileptic encephalopathy; type 2: intermediate phenotype with distinct stroke-like lesions; and type 3: moderate phenotype with non-specific brain pathology and a stable disease course. The functional relevance of COQ4 variants was supported by in vitro studies using patient-derived fibroblast lines. Experiments revealed significantly decreased COQ4 protein levels, reduced levels of cellular CoQ10 and elevated levels of the metabolic intermediate 6-demethoxyubiquinone.ConclusionOur study describes the heterogeneous clinical presentation of COQ4 deficiency and identifies phenotypic subtypes. Cell-based studies support the pathogenic characteristics of COQ4 variants. Due to the insufficient clinical response to oral CoQ10 supplementation, alternative treatment strategies are warranted.

© 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.

Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A (We report a girl with a presentation of multiple brain and ocular anomalies. Her ophthalmological evaluation showed a shallow anterior chamber, cortical cataract, iris hypoplasia, persistent hyperplastic primary vitreous in the right eye, punctate cataract, iris hypoplasia, primary congenital glaucoma, and a widespread loss of fundus pigmentation in the left eye. She was hypotonic, and her deep tendon reflexes were absent. Laboratory investigations showed high serum levels of serum creatine kinase. Brain magnetic resonance imaging demonstrated hydrocephalus, agenesis of the corpus callosum, retrocerebellar cyst, cerebellar dysplasia and hypoplasia, cobblestone lissencephaly, and hypoplastic brainstem. Whole exome sequencing revealed a novel homozygous nonsense mutation in the first exon of theThe study findings expand the phenotypic variability of the ocular manifestations in the

Aim Torticollis can originate from a wide variety of different disorders. Objective We aimed to investigate the underlying conditions in children with torticollis. Material and methods Between May 2016 and December 2019, 24 patients (10 girls and 14 boys; mean age, 8 years) presenting with twisted neck, neck pain, weakness of extremities, imbalance, and gait disorder were evaluated retrospectively. Results Five of the patients had cranial pathologies (cerebellar anaplastic ependymoma and medulloblastoma, brain stem glioma, atypical teratoid rhabdoid tumor, and acute disseminated encephalomyelitis), and five of the patients had spinal pathologies (idiopathic intervertebral disc calcification, vertebral hemangiomatosis, compression fracture, multiple hereditary exostoses, and Langerhans cell histiocytosis at C4). Six of the patients had ocular pathologies (strabismus, Duane syndrome, and Brown syndrome each in two patients). Four patients had otorhinolaryngological infections (Sandifer syndrome, esophageal atresia, reflux, and spasmus nutans, with one patient each). Detailed clinical physical examination and necessary laboratory investigation were performed for all patients. Conclusion Torticollis is a sign that is not always innocent and may herald an underlying severe disease. Misdiagnosis can lead to wrong and unnecessary surgical procedures and treatments, and sometimes, the results can be damaging due to underlying severe conditions if diagnosed late. In addition, we first report a case of vertebral hemangiomatosis and temporomandibular joint ankylosis that presented with torticollis in the English medical literature.

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.

Objectives: Wilson’s disease (WD) is characterized with the accumulation of copper in the liver and brain. The objective of this study is to quantitatively measure the susceptibility changes of basal ganglia and brain stem of pediatric patients with neurological WD using quantitative susceptibility mapping (QSM) in comparison to healthy controls. Methods: Eleven patients with neurological WD (mean age 15 ± 3.3 years, range 10–22 years) and 14 age-matched controls were prospectively recruited. Both groups were scanned on a 1.5 Tesla clinical scanner. In addition to T1- and T2-weighted MR images, a 3D multi-echo spoiled gradient echo (GRE) sequence was acquired and QSM images were derived offline. The quantitative measurement of susceptibility of corpus striatum, thalamus of each hemisphere, midbrain, and pons were assessed with the region of interest analysis on the QSM images. The susceptibility values for the patient and control groups were compared using two-sample t-test. Results: One patient with WD had T1 shortening in the bilateral globus pallidus. Another one had hyperintensity in the bilateral putamen, caudate nuclei, and substantia nigra on T2-weighted images. The rest of the patients with WD and all subjects of the control group had no signal abnormalities on conventional MR images. The susceptibility measures of right side of globus pallidus, putamen, thalamus, midbrain, and entire pons were significantly different in patients compared to controls (P < 0.05). Conclusion: QSM method exhibits increased susceptibility differences of basal ganglia and brain stem in patients with WD that have neurologic impairment even if no signal alteration is detected on T1- and T2-weighted MR images.

Stroke is rarely seen in children, but it is a major cause of morbidity and mortality. Therefore, there is a need for inexpensive and noninvasive diagnostic methods for estimating the prognosis. Although the prognostic importance of hematological parameters in acute ischemic stroke were reported in adult studies, there is a lack in pediatric ages. The aim of the study is to investigate the relationship between hematological parameters and prognosis of acute ischemic stroke in children. Retrospectively scanned in the study were 106 pediatric patients with acute ischemic stroke who managed at the Medical Faculty of Erciyes University, Kayseri, between the years of 2000 and 2014. White blood count (WBC); neutrophil, lymphocyte, and platelet count; mean platelet volume (MPV); platelet distribution width (PDW); neutrophil count/lymphocyte count (N/L) ratio values obtained from the measurements and initial symptoms; demographical features; risk factors; neurological examination; and clinical follow-up were recorded. Their hematological parameters were compared with those of 106 age and sex-matched healthy individuals. MPV and PDW values were found similar in patient and control groups, and the platelet count was found significantly low in the control group (p = 0,028). WBC, neutrophil count, and N/L ratio were found considerably high in the patient group (p

Background Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children. Central nervous system involvement of HLH can cause catastrophic results. Method We present a case with cranial involvement of familial HLH type 4 who showed diffuse infiltration of white matter complicated with intracranial thrombosis. A 5-year-old girl from a consanguineous couple presented with fever and pancytopenia, and was referred to our hematology unit. Examination revealed fever, lymphadenopathy, and hepatosplenomegaly. Ultrasound examination revealed hepatosplenomegaly and free intra-abdominal fluid. HLH was revealed on bone marrow aspiration biopsy. Defective natural killer and T lymphocyte cytotoxicity using degranulation tests was determined. In the genetic analysis, syntaxin gene mutation was found. On T2-weighted and T2-fluid-attenuated inversion recovery magnetic resonance imaging (MRI), diffuse hyperintense signal changes of cerebral white matter, indicating white matter demyelination, were observed. A second brain MRI showed an acute infarct involving the left temporooccipital region. Immunosuppressive therapy according to the HLH 2004 protocol was started. The infarct resolved but white matter lesions were stable on the brain MRI that was performed 1 month later. Brain MRI taken 4 months after the first examination showed stable cerebral white matter lesions, but hyperintense signal changes appeared in the cerebellar white matter and were regarded as progression. The patient died because of infection despite immunosuppressive therapy. Conclusions Physicians managing patients with HLH must be vigilant about the possibility of central nervous system involvement including stroke.

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 Shuddering attacks (SA) are one of the most common childhood paroxysmal nonepileptic events (PNEs). These attacks usually start between the first 4th and 6th months of life with rapid tremors of the head and adduction of the arms and knees. A number of factors including eating, breastfeeding, and playing stimulating games have been shown to trigger the attacks; however, the exact pathogenesis remains unknown. It has been stated that there is no need for further research in patients diagnosed, and spontaneous regression is expected. Purpose This study aimed to identify the causes, accompanying clinical conditions, possible differential diagnosis of SA, and the role of video-electroencephalogram (V-EEG) recording for accurate diagnosis. Methods Nineteen cases with SA have been collected from the database of Erciyes University Pediatric Neurology Clinic, where 52.6% are boys (n = 10) and 47.6% are girls (n = 9). The relationship between the onset and disappearance of SA symptoms and variables including family history, birth history, age, sleep, teething during SA, video-EEG recordings, brain imaging, and accompanying conditions such as epilepsy have been investigated by retrospective analysis. Results Four cases were found to have gastroesophageal reflux, one had epilepsy, and one had Marcus Gunn Jaw Winking Syndrome. No accompanying conditions could be identified for rest of the cases. It was observed that onset of symptoms in 15 (78.9%) of 19 cases coincided remarkably with the period of teething. Conclusion We speculate that there might be an indirect link between SA and teething and teething may be a triggering or an aggravating factor for SA.

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.

Although there are a large number of sequence variants of different genes and copy number variations at various loci identified in autistic disorder (AD) patients, the pathogenesis of AD has not been elucidated completely. Recently, in AD patients, a large number of expression array and transcriptome studies have shown an increase in the expression of genes especially related to innate immune response. Antimicrobial effects of vitamin D and VDR are exerted through Toll-Like-Receptors (TLR) which have an important role in the innate immune response, are expressed by antigen presenting cells and recognize foreign microorganisms. In this study, age and gender matched 30 patients diagnosed with AD and 30 healthy controls were included in the study. Comparatively whole blood VDR gene expression and rs11568820 and rs4516035 SNP profile of the promoter region of the VDR gene were investigated by real time PCR. Whole blood VDR gene expression was significantly higher in the AD group compared to control subjects (p

Background Wilson’s disease (WD) is a copper metabolism disorder that causes hepatolenticular degeneration. It is important to diagnose WD before central nervous system involvement. Purpose To demonstrate the early susceptibility changes associated with the copper accumulation in the brain of neurologically asymptomatic pediatric patients with WD using quantitative susceptibility mapping (QSM). Material and Methods Twelve patients with neurologically asymptomatic WD (mean age = 13.7 ± 3.3 years) and 14 age-matched controls were prospectively examined using a 1.5-T clinical scanner. Routine magnetic resonance (MR) sequences and a three-dimensional multi-echo spoiled gradient echo (GRE) sequence were used and QSM maps were reproduced. The quantitative susceptibility of corpus striatum, thalamus, substantia nigra, and pons were analyzed with the region of interest analysis on QSM maps. The susceptibility values of two groups were statistically compared using a two-sample t-test. Results Conventional MR images of the patients and control group were similar. However increased magnetic susceptibility in the thalamus, pons and left posterior putamen were observed in the patients compared to the control group ( p Conclusion We observed statistically increased susceptibility values in the brains of neurologically asymptomatic patients with WD although the conventional MR images were normal. This might be compatible with early brain impairment, before neurological symptoms occur.

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.

Congenital dyserythropoietic anemia type II belongs to a subtype of bone marrow failure syndrome, which is characterized by monolineage involvement and typical morphologic abnormalities in erythroid precursor cells resulting in different degrees of hyporegenerative anemia. Moreover, reticulocytosis, which is not corresponding to the degree of anemia, with jaundice and splenomegaly are major diagnostic criteria. Causative gene is located at SEC23B. Although stroke among children is rare, it can cause significant morbidity and mortality. Herein we present a 3-year-old male with congenital dyserythropoietic anemia type II who presented with stroke-like symptoms, and was diagnosed with fibromuscular dysplasia.

Gonadotropin-releasing hormone analogues are common treatment option in central precocious puberty in childhood as well as in endometriosis, infertility, and prostate cancer in adults. Pseudotumor cerebri is a rare side effect observed in adults. We present the case of a girl with precocious puberty treated with triptorelin acetate who developed pseudotumor cerebri after the 4th dose. She had headaches, and her blood pressure was detected to be above the 99 percentile. There were no causes underlying of hypertension such as cardiac, renal, or endocrine. Neurological examination was normal except bilateral papilledema. Cranial magnetic resonance imaging was normal. Cerebrospinal fluid (CSF) opening pressure was elevated. Triptorelin therapy was ceased and acetazolamide was applied; CSF pressure returned to normal. We observed pseudotumor cerebri after precocious puberty treatment, a finding for the first time ever seen in childhood.

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 (

Neuroblastoma is the most common extracranial solid tumor of childhood originating from sympathetic nervous system cells. Neuroblastoma has also been diagnosed in conjunction with other congenital conditions such as Hirschsprung's disease, congenital hypoventilation disorder, and neurofibromatosis type 1. Wolf-Hirschhorn syndrome is a congenital disorder caused by microdeletion of short arm of chromosome 4 encoding MSX1 gene with characteristic facial features. We describe a child with dysmorphic features, developmental delay, mental retardation who developed neuroblastoma at 2 years of age and cytogenetic analysis of blood lymphocytes revealed an interstitial deletion of 4p(15,2). To best our knowledge, this report is the first report of neuroblastoma in a child with Wolf-Hirschhorn syndrome; and the reported association may be an important clue for oncological follow-up of patients with Wolf-Hirschhorn syndrome.

WOS: 000411302400005 PubMed ID: 28624463 Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance in muscle biopsy. Myotubular myopathy, the X-linked form of CNM caused by mutations in the phosphoinositide phosphatase MTM1, is histologically characteristic since muscle fibres resemble myotubes. Here we present two unrelated patients with CNM and typical myotubular fibres in the muscle biopsy caused by mutations in striated muscle preferentially expressed protein kinase (SPEG). Next generation sequencing revealed novel biallelic homozygous mutations in SPEG in both cases. Patient 1 showed the c.1627_1628insA (p.Thr544Aspfs*48) mutation and patient 2 the c.9586C>T (p.Arg3196*) mutation. The clinical phenotype was distinctive in the two patients since patient 2 developed a dilated cardiomyopathy with milder myopathy features, while patient 1 showed only myopathic features without cardiac involvement. These findings expand the genotype phenotype correlations after the initial report. Additionally, we describe whole body muscle MRI of patient 2 and we argue on the different SPEG isoforms in skeletal muscle and heart as the possible explanation leading to variable phenotypes of SPEG mutations. (C) 2017 Elsevier B.V. All rights reserved. Muscular Dystrophy Association, USAMuscular Dystrophy Association [255889]; Deutsche Forschungsgemeinschaft, GermanyGerman Research Foundation (DFG) [CI 218/1-1]; Clinica Las Condes, Santiago, Chile [PIDA. 2014-002]; Ministry of HealthMinistry of Health - Turkey [Finalizzata 201201X002951]; TelethonFondazione Telethon [GUP13004]; FONDECYTComision Nacional de Investigacion Cientifica y Tecnologica (CONICYT)CONICYT FONDECYT [1151383] Our patients and their parents are gratefully acknowledged. This work was supported by Muscular Dystrophy Association (255889), USA, and Deutsche Forschungsgemeinschaft (CI 218/1-1), Germany grants to Dr. Sebahattin Cirak. Clinica Las Condes, Santiago, Chile: PIDA. 2014-002, grants to Dr. Claudia Castiglioni, Ministry of Health Grant Finalizzata 201201X002951 and Telethon GUP13004 grants to Fabiana Fattori and Enrico Bertini and Grant FONDECYT 1151383 to Jorge Bevilacqua.

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.

Phthalates and bisphenol A (BPA) are endocrine disruting chemicals (EDCs) that are suggested to exert neurotoxic effects. This study aimed to determine plasma phthalates and BPA levels along with oxidant/antioxidant status in autistic children [n = 51; including 12 children were diagnosed with "Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS)]. Plasma levels of BPA, di (2-ethylhexyl)-phthalate (DEHP) and its main metabolite mono (2-ethylhexyl)-phthalate (MEHP); thiobarbituric acid reactive substance (TBARS) and carbonyl groups; erythrocyte glutathione peroxidase (GPx1), thioredoxin reductase (TrxR), catalase (CAT), superoxide dismutase (SOD) and glutathione reductase (GR) activities and glutathione (GSH) and selenium levels were measured. Plasma BPA levels of children with PDD-NOS were significantly higher than both classic autistic children and controls (n=50). Carbonyl, selenium concentrations and GPx1, SOD and GR activities were higher (p < 0.05); CAT activity was markedly lower in study group. BPA exposure might be associated with PDD-NOS. Intracellular imbalance between oxidant and antioxidant status might facilitate its neurotoxicity. (C) 2016 Elsevier B.V. All rights reserved.

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 aim of this study is to describe the relationship of pre-operative complete blood count parameters [mean platelet volume (MPV), neutrophil/lymphocyte count ratio (NLCR), and white blood cell count (WBC)], with the clinical, radiological, and histopathological features and the management options for patients under 3 years of age with a newly diagnosed central nervous system tumors. Children with central nervous system (CNS) tumors in the first 3 years of life admitted in the Erciyes University Hospital between April 2004 and April 2014 were enrolled in this study. The CBC parameters were compared with those of an age- and sex-matched normal control group. In the study group, the means of MPV and WBC were 8.00 ± 1.24 fl, and 10,855 ± 3642/mm3 respectively; the median (25–75%) of NLCR was 0.98 (0.66–1.46). For the control group, the means of MPV and WBC were 6.8 ± 0.73 fl and 8565 ± 2522/mm3; the median (25–75%) of NLCR was 0.52 (0.36–0.70). The MPV, WBC, and NLCR were higher in the study group. The median overall survival (OS) of the patients was 60 months (range 0–81.6 months); and median event free survival (EFS) was 24 months (range 0–70.1 months). The formulation of MPV, NLCR, and WBC was found to be predictive for the diagnosis of CNS tumor in children with nonspecific symptoms. The univariate and multiple binary regression analyses showed a positive association of MPV, NLCR, and WBC and the risk of a diagnosis of CNS tumor. There was no relationship between MPV, WBC, NLCR, and histological subgroups. However, there were no associations between CBC parameters and OS or EFS of the patients. By causing suspicion, MPV, NLCR, and WBC may provide both an earlier radiological investigation decision and thereby an early diagnosis of CNS tumor in children with nonspecific symptoms in the first 3 years of life.

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.

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

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated monophasic inflammatory demyelinating disorder of the central nervous system which poses a diagnostic challenge. We report on six cases of different etiologies that mimicked the clinical and radiologic findings of ADEM. The cases were collected from four different reference hospitals in Turkey. The same radiologist from the Akdeniz University Faculty of Medicine examined the magnetic resonance images of all patients. Three (50%) patients had antecedent infections. Initial symptoms of the patients were as follows: fever in 50%, altered consciousness in 33.3% and convulsions in 16.7% of patients. Neurologic examination showed long tract signs in 83.3%, ataxia in 50% and altered consciousness in 50% of patients. Cerebrospinal fluid examination revealed lymphocytic pleocytosis only in case 6. Four patients received steroid pulse therapy and one of these initially underwent intravenous immunoglobulin therapy. The patients' definitive diagnoses were as follows: paraspinal neuroblastoma-associated paraneoplastic syndrome; histiocytic sarcoma; mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in one patient each, while two patients had hemophagocytic syndrome. The present case series demonstrated difficulties in diagnosing ADEM while revealing extremely rare disorders that mimic ADEM radiologically and clinically.

To describe the spinal magnetic resonance imaging (MRI) features in children with Guillain–Barre syndrome (GBS) and to investigate the correlation with the clinical/laboratory findings. Clinical/laboratory findings of 40 children (mean age 5.7 years; range, 3 months–15 years) who had a final diagnosis of GBS were retrospectively reviewed. Clinical severity was graded according to Hughes classification. Electromyogram and cerebrospinal fluid analysis of the patients were recorded. All patients had a contrast-enhanced spinal MRI. The contrast enhancement pattern was determined, and the diameters of anterior and posterior spinal nerve roots were measured. The clinical/laboratory findings were correlated with the MRI findings. Twenty-eight patients had an electromyogram examination, and 25 of them revealed findings consistent with GBS. Cerebrospinal fluid analysis of 37 out of 40 patients showed albumino-cytologic dissociation. All but two patients had thickening and contrast enhancement of the nerve roots and cauda equina on spinal MRI. The most common MRI finding was enhancement of both the anterior and the posterior nerve roots of cauda equina which was prominent anteriorly. The mean anteroposterior diameter of the anterior nerve roots was 2.19 mm (range, 1.38–3.30 mm) and the posterior nerve root was 1.80 mm (range, 1.07–2.97 mm). Spinal MRI is a reliable imaging method for the diagnosis of GBS as it was positive in 38 of 40 patients. The severity on MRI does not correlate with severity of the clinical condition. MRI can be used as a supplementary diagnostic modality to clinical and laboratory findings of GBS.

The combination of axial spasms in clusters, hypsarrhythmia, and psychomotor delay beginning in the first year of life defines West syndrome. Adrenocorticotrophic hormone remains the choice of treatment for many neurologists. Recent controlled studies support vigabatrin as first-line therapy, and open-label studies suggest that topiramate, lamotrigine, and zonisamide may be useful in treating spasms. Studies regarding the efficacy and safety of such treatments often come from small, uncontrolled trials and are often inconclusive. Levetiracetam is effective for treating localization-related epilepsy, but it is uncertain whether it is effective for treating West syndrome. To evaluate the efficacy of levetiracetam monotherapy in newly diagnosed cryptogenic West syndrome, levetiracetam was used initially in the treatment of five patients with cryptogenic West syndrome. On admission, levetiracetam (30 mg/kg) tablets were crushed and administered via nasogastric tube. Two patients were seizure free, two patients experienced a 50% reduction in seizure frequency, and one patient had no improvement in seizure frequency. There were no relapses in the two patients at 6 months after the cessation of seizures. It appears that levetiracetam may be effective in the initial treatment of selected patients with cryptogenic West syndrome. (C) 2007 by Elsevier Inc. All rights reserved.

The molybdenum cofactor is. essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischaemic encephalopathy. Although milder cases with later onset and less severe symptoms have been identified, the classic presentation involves neonatal seizures, progressive encephalopathy and death at an early age. There is currently no effective therapy, and the prognosis is poor. The disorder should be considered in all cases of intractable seizures in the newborn period and infants with clinical and radiological features of ischaemic encephalopathy, especially when no obvious lesion is detected. Blood uric acid measurement should be included in the battery of tests to be performed in all neonates' refractory seizures. We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c. I 30C > T in cDNA of the MOCS2 gene from the infant. (C) 2006 Elsevier B.V. All rights reserved.

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.

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.

Torticollis is either congenital or acquired in childhood. Acquired torticollis is not a diagnosis but rather a sign of an underlying disorder. The causes of acquired torticollis include ligamentous, muscular, osseous, ocular, psychiatric, and neurologic disorders and may be a symptom of significant abnormalities of the spinal cord and brain, such as spinal syrinx or central nervous system neoplasia. Torticollis is rarely considered to be an initial clinical presentation of posterior fossa and cervical spinal cord tumors. We report five cases of pediatric tumors with torticollis at the onset: an astrocytoma originating from the medulla oblongata, another presumptive astrocytoma of the spinal cord located between C1 and C6 cervical vertebrae (not operated), an ependymoma located throughout the whole cervical spinal cord extending into the bulbomedullary junction, an astrocytoma originating from the bulbus and extending into the posterior fossa, and another case of a eosinophilic granuloma located extradurally through the anterior and posterior portions of the vertebral bodies from C3 to C7 producing the collapse of the sixth cervical vertebra. All five cases were seen in children, aged between 3 and 12 years. All these cases reflect the misinterpretation of this neurological sign and the lack of association with the possibility of spinal or posterior fossa tumor. This delay in the diagnosis of these diseases led to progressive neurological deterioration and to the increase in the tumor size, which made surgical intervention difficult and the prognosis unfavorable. Although torticollis secondary to tumors is rarely seen, it is necessary to be kept in mind in the differential diagnosis.

Deficiency of vitamin K predisposes to early, classic or late hemorrhagic disease of the newborn (HDN); late HDN may be associated with serious and life-threatening intracranial hemorrhage. Late HDN is characterized by intracranial bleeding in infants aged 1 week to 6 months due to severe vitamin K deficiency, occurring particularly in exclusively breastfed infants. Late HDN is still an important cause of mortality and morbidity in developing countries where vitamin K prophylaxis is not routinely practiced. In this study, we report on two siblings with intracranial bleeding who were fully breastfed without a routine supplementation of vitamin K. Vitamin K should be given to all newborns as a single, intramuscular dose of 1 mg. (c) 2006 Elsevier Inc.

SummaryExome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specifically affects the asymmetrically dividing neuroblasts, which display supernumerary centrosomes and spindle abnormalities during mitosis, leading to cell cycle progression delays and reduced cell numbers. Furthermore, kat80 depletion results in dendritic arborization defects in sensory and motor neurons, affecting neural architecture. Taken together, we provide insight into the mechanisms by which KATNB1 mutations cause human cerebral cortical malformations, demonstrating its fundamental role during brain development.

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.

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.

Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. It is caused by the deficient activity of fatty aldehyde dehydrogenase. In this report, the authors describe 2 siblings with Sjögren-Larsson syndrome. Both the patients had generalized ichthyosis, and the older one had spastic paraplegia and mental retardation, and the fundus examination revealed foveal and parafoveal glistening dots. The authors report the large kinship with Sjögren-Larsson syndrome, which is a rare and most probably underdiagnosed syndrome.

Herpes simplex virus infection of the central nervous system is still a significant cause of morbidity and often mortality. Early diagnosis is critical because treatment with the antiviral drug acyclovir dramatically decreases morbidity and mortality in children. The use of polymerase chain reaction techniques is a diagnostic procedure in herpes simplex virus infection, but negative polymerase chain reaction test results of cerebrospinal fluid herpes simplex virus can occur within the first 72 hours of illness, with subsequent test results becoming positive as in this case. Therefore, diffusion-weighted magnetic resonance may play a major role as a first and early diagnostic step.

This is the first report of Guillain-Barré syndrome (GBS) related to Legionnella pneumophilia infection. A 13-year-old boy presented with acute dysphagia and dyspnea. He lived in a rural area and had a history of drinking potable deep-hole water. The patient was intubated because of increased respiratory distress. A positive direct fluoresein antigen test confirmed L. pneumophilia infection in BAL. One week after the first admission, acute weakness was noticed including the lower extremities and was more prominent in the distal than the proximal portions. GBS was considered as the initial diagnosis. Tests for all causes known to trigger GBS were negative. Specific serology for L. pneumophilia IgG was positive. He was treated with intravenous immunoglobulins and discharged with minor weakness and difficulty in walking in the second month. On the basis of this case, L. pneumophilia should be included in the etiologic spectrum of GBS.