Hatice Gamze Poyrazoğlu

Clinical spectrum of the pseudotumor cerebri in children: Etiological, clinical features, treatment and prognosis

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

Childhood Stroke: Results of 130 Children From a Reference Center in Central Anatolia, Turkey

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.

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.

Assessment of Psychopathology and Quality of Life in Children and Adolescents With Migraine

Aim: The aims of this study were to investigate comorbid psychiatric disorders and to identify anxiety and depression levels and quality of life in children and adolescents with migraine; and to assess their relationship with migraine. Method: 35 patients aged 9-16 years were followed in our neurology clinic and their parents were included into the study. 35 age- and sex-matched patients were employed as the control group. In the subjects included, psychiatric disorders were assessed by using the Schedule for Affective Disorders and Schizophrenia for School Age Children-Present and Lifetime Version. All children and adolescents were assessed by using the Children’s Depression Inventory, the State-Trait Anxiety Inventory and the Pediatric Quality of Life Inventory. In addition, the Pediatric Migraine Disability Assessment Tool and visual analog scale were used to identify the degree of disability and pain severity in patients with migraine. Findings: In the psychiatric assessment of children and adolescents with migraine, it was found that a psychiatric diagnosis was made in 40% of patients; and depression scale scores were significantly higher than those of controls. Quality of life was found to be poorer in patients with migraine compared to controls. It was found that quality of life was negatively correlated with pain severity and degree of disability; while it was positively correlated with depression scores. Discussion: In children and adolescents with migraine, treatment of psychiatric disorders in addition to migraine therapy can facilitate migraine management and may decrease the need for prophylactic therapy.

Transverse myelitis and acute motor sensory axonal neuropathy due to Legionella pneumophila: A case report

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

The Prevalence of Migraine and Tension-Type Headache Among Schoolchildren in Kayseri, Turkey An Evaluation of Sensitivity and Specificity Using Multivariate Analysis

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.

Bone mineral density and bone metabolic markers’ status in children with neurofibromatosis type 1

Abstract 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 (p<0.009). Overall, 18.2% of the patients had skeletal abnormalities. The lumbar Z-score was ≤2 in 21.2% of the patients, whereas the femoral neck Z-score was ≤2 in 9.1%. The urinary calcium/creatine ratio was significantly higher in the female than in the male patients (p<0.027). In all, six patients had skeletal abnormalities. Conclusions: 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.

Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene

We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.

Three Patients With Lafora Disease Different Clinical Presentations and a Novel Mutation

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.