Ayşe Kaçar Bayram

Increased Serum Phthalates (MEHP, DEHP) and Bisphenol A Concentrations in Children With Autism Spectrum Disorder The Role of Endocrine Disruptors in Autism Etiopathogenesis

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 µg/ml, 2.70 ± 0.90 µg/ml, 1.25 ± 0.30 ng/ml) compared to healthy control subjects (0.29 ± 0.05 µg/ml, 1.62 ± 0.56 µg/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.

Comparison of Effects of Different Dexmedetomidine and Chloral Hydrate Doses Used in Sedation on Electroencephalography in Pediatric Patients

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.

Different etiologies of acquired torticollis in childhood

IntroductionTorticollis can be congenital or may be acquired in childhood. Acquired torticollis occurs because of another problem and usually presents in previously normal children. The causes of acquired torticollis include ligamentous, muscular, osseous, ocular, psychiatric, and neurologic disorders.ObjectiveWe performed this study to evaluate the underlying causes of torticollis in childhood.Material and methodsTen children presented with complaints of torticollis between April 2007 and April 2012 were enrolled in this study. The additional findings of physical examination included neck pain, twisted neck, walking disorder, imbalance, and vomiting The identified etiologies of the enrolled children was acute disseminated encephalomyelitis in a 2.5-year-old boy, posterior fossa tumor in a 10-month-old boy, spontaneous spinal epidural hematoma in a 5-year-old hemophiliac boy, cervical osteoblastoma in a 3-year-old boy, arachnoid cyst located at posterior fossa in a 16-month-old boy, aneurysm of the anterior communicating artery in a 6-year-old girl, pontine glioma in a 10-year-old girl, and a psychogenic torticollis in a 7-year-old boy were presented.ConclusionThere is a wide differential diagnosis for a patient with torticollis, not just neurological in etiology which should be considered in any patient with acquired torticollis. Moreover, early diagnosis of etiological disease will reduce mortality and morbidity. Therefore, clinicians managing children with torticollis must be vigilant about underlying neurological complications.

The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome

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.

Brain diffusion tensor imaging in children with tuberous sclerosis

PURPOSE To evaluate diffusion characteristics of tubers and white matter lesions in children with tuberous sclerosis (TS) using diffusion tensor imaging (DTI). MATERIALS AND METHODS Eighteen 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. RESULTS ADC, 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<0.001). Similarly RD values were significantly higher and FA values were lower in white matter lesions (P<0.05). ADC and AD measures were detected to increase in white matter lesions, however no statistically significant difference was observed. The increase in the mean values of RD was significantly greater than the increase in the AD values for tubers and white matter lesions (P<0.05). CONCLUSION DTI can provide valuable information about the cytoarchitectural changes in TS lesions beyond morphologic MRI findings alone.

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.

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.

Magnetic Susceptibility Changes in the Basal Ganglia and Brain Stem of Patients with Wilson’s Disease: Evaluation with Quantitative Susceptibility Mapping

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.

Neurological features and management of Wilson disease in children: an evaluation of 12 cases

AIM Wilsons disease is an autosomal recessive disorder of copper metabolism which leads to copper overload in different tissues of the body. The aim of this study was to present the neurologic features of Wilsons disease and to assess the clinical course of neurological findings in children receiving anti-copper treatment. MATERIAL AND METHODS Twelve children with a diagnosis of Wilsons disease and findings of central nervous system involvement who were followed up in the Department of Pediatric Neurology and Pediatric Gastroenterology of the School of Medicine at Erciyes University were enrolled in the study. RESULTS The study cases consisted of five boys (42%) and seven girls (58%). The mean age at the time of diagnosis was 9.9±3.4 years (5-15 years). The mean duration of follow-up was 49.0±36.4 months (15-128 months). Neurological findings at presentation included headache in seven cases (58%), tremor in seven cases (58%), dystonia in three cases (25%), ataxia in two cases (17%), dizziness in two cases (17%), numbness in the hands and acute weakness in one case (8%) and syncope in one case (8%). Headache, dizziness, syncope, numbness in hands and acute weakness symptoms resolved completely within six months after receiving treatment. Movement disorders either decreased or remained stable in seven of the eight cases. However, one patient developed progressively worsening dystonia despite to all treatments. CONCLUSIONS Wilsons disease can be manifested with signs and symptoms of central nervous system in the childhood. Wilsons disease should be considered in all children presenting with movement disorders. A complete neurological assessment should be carried out in all cases with Wilsons disease.

Idiopathic Brain Herniation A Report of Two Paediatric Cases

‘Idiopathic’ herniation of the brain is a rare entity previously reported in 13 cases. It may be incidentally encountered in neuroimaging studies acquired for various clinical indications. We herein describe two cases of idiopathic brain herniation that were incidentally diagnosed. A 12-year-old boy presented with a six-month history of daytime sleepiness and sudden spells of sleep. Herniation of the left inferior temporal gyrus was revealed in MRI acquired with the suspicion of epilepsy. His overnight polysomnogram and multiple sleep latency tests were compatible with the diagnosis of narcolepsy. The other case, a two-year-old girl, was transferred from an outside hospital due to partial seizures with the fever. Herniation of the precuneal gyrus was encountered in MRI acquired after controlling her seizures with the initiation of phenytoin. The brain herniations of both patients were considered to be inconsistent with their medical conditions, so that they were symptom-free with only medical treatment for following three and six months, respectively. This is a rare presentation of idiopathic brain herniation as an incidental finding that accompanied narcolepsy and epilepsy. Awareness of this entity would avoid excessive surgical and medical treatments.

Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.

Tyrosinemia type II is a rare autosomal recessive disorder caused by deficiency of tyrosine aminotransferase (TAT). It may occur with ocular and cutaneous symptoms with or without mental retardation, but epileptic seizure is a rare presentation of this disease. Herein we report the clinical, biochemical and genetic features of a 4‐year‐old boy who presented with afebrile seizure and photophobia. Genomic DNA was obtained from peripheral blood leukocytes from the whole family. Sequencing analysis was performed using the MiSeq next‐generation sequencing platform. Sequencing of TAT indicated two new homozygous mutations p.L312P (c.935T>C) and p.T408M (c.1223C>T) for the proband and his asymptomatic sister. During a 2 year follow‐up period, the patient had overall poor compliance with protein‐restricted diet, but his asymptomatic sister had good compliance with the diet. Cognitive function of the patient worsened steadily, but his asymptomatic sister maintained normal mental status. Tyrosinemia type II should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein‐restricted regimen are important to reduce the risk of long‐term complications of tyrosinemia type II such as mental disability.