Search

Background: Hot water epilepsy is a type of reflex epilepsy which generally occurs with pouring water on the body during bath. Objective: The aim of this study is to evaluate the clinical and electrophysiological features, treatment, and outcome of the pediatric patients with diagnosis of hot water epilepsy. Methods: Patients were followed and treated at Erciyes University, between January 2010 and January 2016. Results: There were 15 patients total, included 9 (60%) boys and 6 (40%) girls. The average age at diagnosis was 30 months (range: 13-60 months). The follow-up period was 16 months (range: 12-48 months). Seven patients (46.6%) had focal seizures with impaired consciousness, four (26.7%) had focal seizure and four (26.7%) had focal starting and generalized tonic-clonic continuing seizures. Seven patients (46.6%) had abnormal interictal EEG findings, ranged from unilateral slowing of the background activity to bilateral sharp wave. Intermittent clobazam treatment (0.8-1.2 mg/kg) was given to 13 patients (86.7%). Other epileptic treatments were used in 5 (33.3%) patients. Three patients (20.0%) developed nonreflex seizures during followup period. Conclusions: Intermittent clobazam prophylaxis prior to hot water bath, as well as changing bathing habits can be effective in pediatric patients with hot water epilepsy.

The essential characteristics of posterior reversible encephalopathy syndrome (PRES) are the presence of acute onset neurologic symptoms, focal vasogenic edema at neuroimaging, and reversible clinical and/or radiologic findings. This study aimed to evaluate the clinical findings, causes, radiologic findings, and prognoses of patients with PRES.Patients with PRES confirmed with clinical and radiologic findings by a pediatric neurologist were evaluated retrospectively.Seventeen patients with PRES were evaluated (mean age at onset, 10.23 ± 4.65 years; range, 2-17 years; girls, 29.4% [n = 5]). The mean length of follow-up was 6 ± 2.3 years (range, 3.4-10 years). Mortality due to primary disease occurred in 4 patients (23.5%) during follow-up. PRES was derived from renal diseases in 10 patients (58.8%), hematologic diseases in 6 patients (35.3%), and liver disease in one patient (5.9%). Hypertension was present in 16 patients (94.1%) at onset of PRES (99th percentile). Seizure, the most frequent initial symptom, was observed in 82.4% (n = 14). Blurred vision and headache were the initial symptoms in 3 patients (17.6%). Sequelae were observed at magnetic resonance imaging (MRI) in 6 patients. Development of epilepsy was determined as a sequela in 4 patients (23.5%) and mental motor retardation in 2 patients (11.8%).Epilepsy is uncommon in patients who have recovered from PRES. The presence of gliosis on MRI and interictal epileptic discharges on electroencephalograms are major risk factors for the development of epilepsy. Antiepileptic treatment can be stopped in the early period in patients with normal MRI and electroencephalogram by eliminating the factors that trigger the seizures.

© 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.

Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation, difficulty of walking, and progressive tiptoeing. Laboratory investigations revealed mildly elevated hepatic enzymes and elevated plasma arginine concentration. Molecular genetic analysis was performed for suspected argininemia and a novel homozygous mutation c. 231C> A (p. S77R) was detected in the ARG1 gene. The second patient was admitted because of poor head control when he was aged 6 months. Microcephaly was detected in his physical examination, and basic metabolic tests were studied. Elevated levels of plasma arginine and orotic acid in urine organic acid analysis were compatible with argininemia. A homozygous mutation c.703G> C (p. G235R) was detected in the ARG1 gene and the diagnosis was confirmed. Arginineemia is a rare cause of progressive spastic diplegia. Patients may be mistakenly diagnosed as having cerebral palsy. Microcephaly may be the initial clinical finding of the disorder.

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.

Friedreich's Ataxia (FRDA) is the most common form of autosomal recessive ataxia. The disease primarily results from a GAA trinucleotide repeat expansion within the FXN gene in up to 97% of patients. The clinical presentation begins approximately between the ages of 5 and 15. The major clinical findings of FRDA are progressive extremity and gait ataxia. Although it is known that the disease is caused by low levels of functional protein in the target tissues, there is no effective treatment available for this pathology. However, significant improvements have been achieved in the research into pharmacological treatments for FRDA in recent years. Interferon-gamma (IFN-gamma) has been shown to induce frataxin production in many cell types. In this study, the clinical features, tolerability, and the prognosis of individuals with FRDA to whom IFN-gamma was administered in a university hospital were evaluated retrospectively and the results were discussed. To the best of our knowledge, this is the first study conducted in our country to evaluate the effect of IFN gamma on this patient group.

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.

Objective Sialic acid (Sia) is an essential nutrient for brain development, learning, memory and cognition and plays a role in neurodevelopment of infants. The aim of this study was to determine whether Sia levels are significantly associated with the autism spectrum disorder (ASD). Methods Forty-six ASD children and 30 typically developing children aged 3 to 10 years were included in the study. Behavioral symptoms in ASD children was assessed by the Autism Behavior Checklist (AuBC), the Childhood Autism Rating Scale, and the Aberrant Behavior Checklist (ABC). After the collection of saliva samples, the supernatant was separated. All the samples kept at -80°C until Sia analysis was done. Results Sia level was found to be significantly lower in the ASD group when compared to healthy controls ( p = 0.013). There was no correlation between severity of ASD and salivary Sia levels. We found a negative correlation between AuBC scores and Sia levels and a negative correlation in both ABC Stereotypic Behavior and Hyperactivity/Noncompliance subscales with Sia levels in ASD group. Conclusion The obtained data indicate that Sia levels could have an effect on autism-like behaviors, particularly on stereotypes and hyperactivity.

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.

Aim: This study investigated the effect of antiepileptic drug monotherapy on cognitive functions in pediatric epilepsy patients. Methods: 98 recently diagnosed epilepsy patients aged 6-16 years were included. All patients underwent routine laboratory tests, electroencephalography, brain magnetic resonance imaging, and intelligence testing. The patients were treated with valproic acid (VA), carbamazepine (CBZ), oxcarbazepine (OXC), or levetiracetam (LEV). The Wechsler Intelligence Scale for Children (WISC-R) was applied three times, before, six months and 12 months after the start of antiepileptic therapy. Results: No significant difference was determined among the mean verbal, performance and total intelligence scores of patients using a single antiepileptic drug at baseline, after six or 12 months. Conclusion: We conclude that the type of antiepileptic drug using has no adverse effects on cognitive functions.

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.

Peripheral neuropathy is the most common reaction to toxic chemical substances in the nervous system. Toxic neuropathies are often misdiagnosed because there are no easily available specific or biologic tests for the diagnosis. Guillain-Barre syndrome is the most common cause of acute flaccid paralysis in children and adolescents. Clinical signs of the disease are often at the beginning of the distal symmetric weakness and areflexia progresses rapidly. Although capsaicin is widely used in the treatment of so many diseases, especially of neuropathic pain, cancer and osteoarthritis, it is known to be toxic in many systems such as the eye, skin, respiratory, and circulatory systems. Although there is inadequate information about its long-term effects, it has also been reported that in large quantities there is increased risk of toxicity and prolonged exposure can lead to death. In our case, we present acute polyneuropathy mimicking Guillain-Barre syndrome after exposure to pepper spray because it is noteworthy and interesting.

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

Aim: Moyamoya disease (MMD) is a rare, progressive and oclusive cerebrovascular disorder, predominantly affecting the terminal segment of the internal carotid arteries (ICA) and its main branches. The purpose of this study is to evaluate the clinical course and severity of MMD in pediatric patients. Material and Method: We examined 5 consecutive pediatric patients with MMD, focusing on clinical and radiological features, the therapy and outcome over the 58-month follow-up period. Results: The study population consisted of 3 boys and 2 girls. The mean age at diagnosis of patients was 7.2 ± 3.4 years (age range: 3-10 years). The mean duration of follow-up was 30.4 ± 17.4 months (follow-up interval: 12-58 months). Neurological findings at presentation included: motor deficit in 4 patients (80.0%), epileptic seizures in 2 patients (40.0%), movement disorders in 3 patients (60.0%), and headache in 1 patients (20.0%). There was areas of infarction on brain MRI in all patients. Angiographic findings included: internal carotid artery stenosis in all patients, anterior cerebral artery stenosis in 3 patients, middle cerebral artery stenosis in 3 patients, posterior cerebral artery stenosis in 2 patients, and vertebral artery stenosis in 1 patient. Enoxaparine therapy was started to all patients. Subdural hematoma developed in 1 patient during follow-up. Cerebral infarctions recurred despite medical treatment in 4 patients. Discussion: Although this disease is rare, it is an important cause of pediatric stroke. MMD shows different clinical course and disease severity in childhood. Early diagnosis and appropriate treatment are crucial.

162 Canpolat et al. Basilar Artery Dissection and HOD Erciyes Med J 2015; 37(4): 162-5 163 Figure 1. a, b. Axial non-enhanced CT images at the level of the pons (a) and lateral ventricles (b) does not show any abnormality CT: computed tomography a b Figure 2. a, f. Axial T2-weighted images at the level of the cerebellum and brain stem (a-c) show hyperintense signal changes in the bilateral cerebellar hemispheres, which is predominant on the right side and in the pons, consistent with infarction. Diffusion-weighted images (b=1000) (d, e) reflect these changes as restricted diffusion. Besides, another focal area of infarction is demonstrated on the right side of the splenium of the corpus callosum (f) on diffusion-weighted image, which is not appreciated on T2-weighted images a

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 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.

Anterior spinal artery infarction is extremely rare in children; it is caused by the hypoperfusion of the anterior spinal artery, leading to ischemia. Patients typically present with acute paraparesis or quadriparesis, depending on the level of spinal cord involvement. In general, it is clinically diagnosed, and neuroimaging is used to confirm the diagnosis and exclude other conditions. There are only a few reports in the pediatric literature characterizing the etiology, diagnosis, treatment, and prognosis of spinal cord infarction. It is associated with moderate-to-severe disabilities and a high mortality rate. Here we report an unusual case wherein a 12-month-old male developed spinal cord infarction following surgery to repair the coarctation of the aorta. Spinal magnetic resonance imaging showed bilateral hyperintensity corresponding to the anterior horns of grey matter in the conus.

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.

Guillain-Barre 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-Barre 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.

Joubert syndrome (JS) is a rare genetic disorder that affects the cerebellum, controlling balance, and coordination, and it usually presents a molar tooth sign on magnetic resonance imaging. It is characterized by ataxia, an abnormal breathing pattern referred to as hyperpnea, sleep apnea, hypotonia, and abnormal eye and tongue movements. Because of sensitivity to respiratory depressant agents, including opiates, nitrous oxide, and neuromuscular blockers, and potential difficult airways, anesthetic management requires attention. Sugammadex binds to rocuronium and is a reverse neuromuscular blocker. In this study, two cases of JS where sugammadex was used for general anesthesia are presented. Sugammadex may be a safe general anesthetic for patients with JS.

Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms.A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI. Clinical manifestation, MRI findings, and metabolic investigations directed thoughts towards GA-I. Molecular genetic testing revealed a homozygous c.572TC (p.M191T) mutation in GCDH gene which confirmed the diagnosis. Application of protein restricted diet, carnitine and riboflavin supplementations prevented the progression of Magnetic Resonance Imaging (MRI) and clinical pathologic findings during the 1 year of follow-up period.This case is of great importance since it shows possibility of infantile stroke in GA-1, significance of early diagnosis and phenotypic variability of disease.

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.

Many cardiovascular disorders may result in blackouts accompanied by abnormal movements attributable to generalized brain hypoxia. In some cases, it may be difficult to distinguish between cardiovascular and epileptogenic causes. Therefore, misdiagnosis of epilepsy and use of unnecessary antiepileptic medication can often be seen in these patients. Although rare in children, atrial fibrillation may cause loss of consciousness. This disorder has strong association with underlying cardiovascular diseases. In this case report, we describe a previously healthy 13-year-old girl presenting with transient loss of consciousness, urinary incontinence, and generalized tonic-clonic convulsions. She was diagnosed with atrial fibrillation based on physical examination and electrocardiography findings. Cardiovascular disorders should be assessed in patients presenting with transient loss of consciousness and seizure-like symptoms. We emphasize that complete physical examination and electrocardiography recording are necessary for correct diagnosis of patients.

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.

Introduction: The aim of this study is was to evaluate the clinical features of cases with diagnosis of spinal muscular atrophy SMA .Materials and Methods: Thirty-eight pediatric patients were evaluated retrospectively. All patients were followed in the Pediatric Neurology Department of Erciyes University Faculty of Medicine. The diagnosis of patients had been confirmed by genetic analysis of homozygous deletions of survival motor neuron 1 gene. Detailed history, newborn symptoms, nutritional characteristics, initial complaints, physical examination, concomitant pathologies, genetic characteristics, and treatment modalities were investigated in all patients. Results: The study population consisted of 19 boys 50% and 19 girls 50% . The mean age of patients was 26.9±25.7 months range: 3-96 months . The mean follow-up period was 12.2±13.3 months range: 2-48 months . According to SMA classification, 22 patients 57.8% were type 1, 8 patients 21.1% were type 2, and 8 patients were 21.1% type 3. Neonatal respiratory distress, age at early diagnosis, nutritional problems, and recurrent lung diseases were detected as poor prognostic factors.Conclusions: SMA is a neuromuscular disease that requires multidisciplinary approach to medical care. There is a wide range of clinical severity. Identification of poor prognostic factors will help in terms of guiding close monitoring and timely treatments of children with SMA

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

OZET Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare autosomal recessive syndrome characterised by punctuate calcifications of the cartilage associated with proximal limb shortening, joint contractures, vertebral coronal clefts, typical dysmorphic facies, bilateral cataracts, seizures, serious respiratory problems, failure to thrive and severe mental-motor retardation. Diagnosis is usually made based on clinical and radiological criteria. Peroxisome functions, such as the red blood cell concentration of plasmalogenes and the plasma concentrations of phytanic acid and very long chain fatty acids are biochemical indicators of RCDP. Recurrences can be avoided through genetic counselling. In this article, we present a case of the rare disorder RCDP manifested as proximal limb shortening, punctuate calcifications of the cartilage, vertebral coronal clefts, cataracts and hypotonia. The patient died in the second month of follow-up due to intercurrent lower respiratory tract infection.

Falls from short distances very rarely cause serious lesions in infants. However, if an infant is brought to a doctor with a serious clinical presentation and if there is a history of a fall from a short distance, the history should be detailed. In the presence of retinal haemorrhage or subdural haemorrhage, shaken baby syndrome (SBS) should certainly be taken into consideration. Six cases who were admitted to the Pediatrics Emergency Department of Erciyes University Faculty of Medicine in the previous year with convulsion and a history of fall from a short distance were examined. Fundoscopic examination was normal in three cases while there was unilateral retinal haemorrhage in two cases and papilledema in one case. There was intracranial haemorrhage in three cases, intracranial haemorrhage and skull fracture in one case, cerebellar and cerebral atrophy in one case. CT was normal in one case. The distance offal! was claimed to be 50-100 cm. Medical history, physical examination and radiological findings of children with convulsion and history of fall from a short distance should be evaluated for SBS.

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.

Wilson's 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 Wilson's disease and to assess the clinical course of neurological findings in children receiving anti-copper treatment.Twelve children with a diagnosis of Wilson's 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.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.Wilson's disease can be manifested with signs and symptoms of central nervous system in the childhood. Wilson's disease should be considered in all children presenting with movement disorders. A complete neurological assessment should be carried out in all cases with Wilson's disease.

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.