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Background/Aim: Arachnoid cysts (ACs) are the collection of fluid, which is similar in composition to cerebrospinal fluid, within the congenitally duplicated arachnoid membrane. ACs are clinically silent lesions, but sometimes they can manifest themselves with headache, convulsion, focal neurological deficits, cognitive decline, torticollis, and macrocephaly. Although the appropriate surgical approach is less clear, there is a consensus on the need for surgical treatment in symptomatic ACs. This study aims to reveal the advantages and disadvantages of cystoperitoneal shunt and microsurgical fenestration techniques. Methods: One hundred ninety-one consecutive patients from 1 month to 15 years old with AC were evaluated for suitability. Sixteen patients who underwent surgery were included in the study. Medical records of the patients with AC managed at our institutions were retrospectively collected and analyzed. Sixteen of 191 patients underwent surgical treatment via craniotomy for microsurgical cyst fenestration (CF) and cysto-peritoneal shunting (CS). CF was performed with partial cyst wall excision in all patients. Results: Seizure was the most common presentation in the patients, followed by headache and trauma, respectively. In our series the most common indications of the surgery were increased intracranial pressure (IICP). CF was performed in nine patients, and CS was performed in seven as the primary treatment. CS-related complications, such as infection (n = 2), dysfunction (n = 2) and intraabdominal abscess (n = 1) were the most commonly observed complications. No infections were observed after CF, but subdural hematoma was observed in one child. Conclusions: Although the most common symptoms in cases with arachnoid cysts are headache, rare symptoms, such as torticollis, may exist. Due to this, clinicians should reveal the cyst-complaint relationship first. Given the increased complications of CS, in addition to shunt independency and being free from shunt-related complications, the microsurgical CF with wide excision of the membranes seems to be the more preferable surgical option.

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

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

Background 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.

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.

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.

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.

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.

Objective Autism spectrum disorders (ASDs) are a group of complex neurodevelopmental disorders where many studies have been conducted and many factors have been implicated in the etiology. The aim of this study was to investigate the relationship between ASD development and exposure to mono-(2-ethylhexyl)-phthalate (MEHP), di-(2-ethylhexyl)-phthalate (DEHP), and bisphenol A (BPA), one of the endocrine disruptors, among phthalates. Methods The study included 48 children with autism (27 boys, 21 girls) and 24 healthy subjects (14 boys, 10 girls) as controls. Serum MEHP, DEHP, and BPA, levels were measured by using high performance liquid chromatography (HPLC). Results Children with autism 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) than healthy control subjects (0.29±0.05 μg/ml, 1.93±0.62 μg/ml, 0.95±0.22 ng/ml) respectively. When serum MEHP, DEHP and BPA levels were compared between groups, endocrine disruptors were found to be significantly higher in autistic group (p=0.000). Conclusion The finding of significantly higher serum MEHP, DEHP and BPA levels in autistic group compared to controls suggests that endocrine disruptors may have role in the pathogenesis of ASDs.

Objective The falling of the upper eyelid is called ptosis. It has been classified five mainly group as; myogenic, neurogenic, mechanical, aponeurotic and pseudoptosis. The symptoms occur at the same side as the lesion of the sympathetic trunk. Malignant peripheral nerve sheath tumors (MPNSTs) develop from Schwann cells, perineural cells and neural fibroblasts. MPNSTs are heavily homogeneous tumors consisting only of nerve sheath cells or Schwann cells. It can occur in any peripheral or cranial nerve. It develops mostly on the cranial nerves, autonomic nerves, and flexor sites of limbs. Methods We reported a rare presentation of MPNST with ptosis. Results A four year old girl admitted to our outpatient department of neurology with complaint of left ptosis for the last one month. Her neurologic examination was normal except ptosis and only one cafe au lait macule which are smaller than 1 cm were detected. There was no history of systemic illness or trauma, nor was any familial history obtained. Chest X-ray examination revealed a mass lesion in the lung. Chest MRI showed a 44×26×40 mm sized paravertebral mass at the level of C7-T1. She was diagnosed as sympathetic ptosis due to this mass. Abdomen CT, laboratory tests and bone marrow aspiration were normal. The lesion was surgically removed by thoracoscopic approach. The histopathological examination was relevant with MPNST. Conclusion To the best of our knowledge, there have been no previous reports of isolated ptosis as the initial presenting sign of MPNST. It is important to evaluate the chest X-ray presented with complaint of ptosis in children. We recommend that pediatricians and pediatric neurologists perform meticulous investigation in terms of neoplasm or paraneoplastic syndrome in newly developing, persisting, or unexplained neurological signs.

Objective Hashimoto thyroiditis (HT) is an autoimmune thyroid disease, characterized by different clinical courses and presentation. The purpose of this study was to identify the neurological manifestations of Hashimoto thyroiditis in children and evaluate their clinical outcome. Methods Fifteen patients under monitoring with a diagnosis of HT and also presenting with neurological manifestations were enrolled in the study. Patients presenting with change of consciousness was considered as Hashimoto's encephalopathy. Clinical outcomes were assessed by most recent neurological examinations during their visit at our pediatric neurology department. Results The study patients consisted of 2 boys and 13 girls. The mean age at diagnosis of patients was 12.8±2.83 years (age range, 6–17 years). The mean duration of follow-up was 25.8±12.7 months, and ranged from 6–48 months. At the time of presentation; 5 patients were euthyroid, and 10 was hypothyroid. Neurological findings at presentation included: headache in 10 patients, epileptic seizures in 5 patients, focal paresis in 4 patients, speech abnormalities in 3 patients, decreased school performance in 2 patients, ataxia in 2 patients, Hashimoto's encephalopathy in 2 patients, diplopia in 1 patients, status epilepticus in 1 patients, and coma in 1 patients. Abnormal electroencephalographic recordings revealed in 8 patients. All hypothyroid patients received thyroxine replacement therapy. Two patients received intravenous methylprednisolone, and 1 patient took intravenous immunoglobulin treatment. Four children received antiepileptic therapy for control of epileptic seizures. Four children improved spontaneously without any treatment. In contrast, Hashimoto's encephalopathy relapsed 6 times despite all the treatments in 1 patient during follow up period. Conclusion Hashimoto thyroiditis should be considered in any patient presenting with unexplained neuropsychiatric signs and symptoms.

Objective Torticollis is an abnormal head posture that occurs at all ages, seen in childhood with an estimated incidence of 1.3%. Clinical presentation includes ipsilateral tilt and controlateral rotation and translation. The purpose of this studyis to better understand the spectrum of disease in torticollis except congenital muscular torticollis. Methods 17 patients presented with complaints of twisted neck, neck pain, weakness of extremity, esotropia and gait disorder between May 2012 and November 2014 were enrolled in this study. Cranial and/or spinal MR, CT imaging, ultrasound and ph meter studies were performed in order to reveal etiology. Results Nine patient underwent surgery, two patientes received medical therapy for reflux and benign paroxysmal torticollis. For six patients only clinical follow-up was sufficient. Conclusion There is a wide differential diagnosis for a patient with torticollis, not just neurological in etiology which should be considered in any patient with 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.