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Copyright of Journal of the Child / Çocuk Dergisi is the property of Journal of Child and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Medical Journal of Bakirkoy is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background. Krabbe disease is a rare lysosomal storage disorder with a neurodegenerative course that occurs because of the deficiency of the beta-galactocerebrosidase (GALC) enzyme activity. The genetic basis of Krabbe disease consists of biallelic mutations in the GALC gene, but the genetic spectrum in the Turkish population is poorly defined. We aimed to present a Turkish case-series with infantile-onset Krabbe disease, define the clinical and molecular findings and compare the genetic spectrum with the mutations previously reported in the literature. Methods. Six cases, who were referred to our clinic between 2015-2019, with a definite diagnosis of infantileonset Krabbe disease were included in the study. The family history, clinical information, biochemical and radiological examinations of the patients were screened and evaluated. All encoded exons and exon-intron regions of the GALC gene were sequenced using next generation sequencing technology. Multiplex ligationdependent probe amplification analysis was used for deletion type mutations that could not be detected by sequence analysis. Results. GALC gene sequence analysis revealed four known mutations including c.1394C>T (p.Thr465Ile), c.411_413delTAA (p.Lys139del), c.820G>C (p.Glu274Gln), and 30 kilobase deletion mutation among the exons 11-17 (IVS10del30kbp). Moreover, the c.1623G>A (p.Trp541Ter) variant, which was not previously reported in the literature, was detected in two cases. Conclusions. We believe that the demonstration of the genetic spectrum of infantile-onset Krabbe disease in Turkish patients will be an important contribution to the GALC mutation data in our country. More importantly, two novel variants were defined. This knowledge may enable early detection and treatment with the advent of a carrier or newborn screening tests. [ABSTRACT FROM AUTHOR]

Objective: Although there is no consensus regarding the etiology of paranasal mucous retention cysts (MRCs) in the literature, several studies suggest an allergic etiology. This study aimed to investigate a potential association between paranasal MRCs diagnosed with MRI scans and allergic sensitization in the pediatric population. Materials and Methods: A total of 4559 MRI scans were retrospectively evaluated for MRC in patients who presented to the pediatric neurology outpatient clinic with headache complaints. Fifty children with MRI findings conclusive for paranasal MRC and 50 children without such findings were included in the study. All study and control patients were invited for atopy/allergy evaluation. Total IgE measurements, blood eosinophil levels, nasal smear and skin prick tests were performed to evaluate the allergic status of the children. In addition, an allergic rhinitis symptom questionnaire was administered. Results: The mean age was 13.0±2.8 years (median 14 y, range 6-18 y) with a female-to-male ratio of 1.4:1 in the study group. The prevalence of MRC was found to be 1.1% (50 in 4559). The two groups did not differ with regard to the frequency of blood eosinophilia, nasal eosinophilia, serum IgE levels, and allergic rhinitis symptom severity (p>0.05). Positive skin test for at least one of the allergens tested was more common in the MRC group than the controls (40% vs. 16%, p=0.007). Multivariate analysis identified that a positive skin prick test for at least one allergen was a significant independent predictor of MRC (OR, 4.6; 95% CI 1.2-17.0, p=0.023). Conclusion: Our study showed that paranasal MRCs were significantly more frequent in atopic children compared to controls. Additionally, MRCs were found to be strongly associated with allergic sensitization. [ABSTRACT FROM AUTHOR]

Background/aim: Vitamin B12 plays an important role in the development of mental, motor, cognitive, and social functions via its role in DNA synthesis and nerve myelination. Its deficiency in infants might cause neuromotor retardation as well as megaloblastic anemia. The objective of this study was to investigate the effects of infantile vitamin B12 deficiency on evoked brain potentials and determine whether improvement could be obtained with vitamin B12 replacement at appropriate dosages. Materials and methods: Thirty patients with vitamin B12 deficiency and 30 age-matched healthy controls were included in the study. Hematological parameters, visual evoked potentials, and brainstem auditory evoked potentials tests were performed prior to treatment, 1 week after treatment, and 3 months after treatment. Results: Visual evoked potentials (VEPs) and brainstem auditory evoked potentials (BAEPs) were found to be prolonged in 16 (53.3%) and 15 (50%) patients, respectively. Statistically significant improvements in VEP and BAEP examinations were determined 3 months after treatment. Three months after treatment, VEP and BAEP examinations returned to normal in 81.3% and 53.3% of subjects with prolonged VEPs and BAEPs, respectively. Conclusion: These results demonstrate that vitamin B12 deficiency in infants causes significant impairment in the auditory and visual functioning tests of the brain, such as VEP and BAEP. [ABSTRACT FROM AUTHOR]

Copyright of Journal of the Child / Çocuk Dergisi is the property of Journal of Child and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of the Child / Çocuk Dergisi is the property of Journal of Child and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Türk Pediatri Arşivi is the property of Aves Yayincilik Ltd. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Klimik Journal / Klimik Dergisi is the property of DOC Design & Informatics Co. Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Clinical & Experimental Investigations is the property of Modestum Publications and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Unusual presentations are not rare in subacute sclerosing panencephalitis. Five patients initially diagnosed with pseudotumor cerebri were ultimately determined to have pseudotumor cerebri secondary to subacute sclerosing panencephalitis. The present study retrospectively reviewed 56 cases history, neurologic symptoms, and clinical and laboratory data, as well as the outcomes. On admission, five patients (group 1) presenting with pseudotumor cerebri exhibited bilateral papilledema, and in each of them cranial magnetic resonance imaging revealed small lateral ventricles, effacement of the subarachnoid space, and no mass lesion. On admission, 51 patients (group 2) had no pseudotumor cerebri findings. The year of original measles infection, the interval between measles and onset of subacute sclerosing panencephalitis, and initial neurologic symptoms were similar, but length of symptoms before diagnosis of subacute sclerosing panencephalitis was shorter in group 1, and the clinical stage of subacute sclerosing panencephalitis on admission was more advanced in group 2. Cerebrospinal fluid mean open pressure was 378 ± 22 H2O in group 1 and 146 ± 28 H2O in group 2; cerebrospinal fluid antibody was 2038 ± 768 U/L in group 1 and was 664 ± 214 U/L in group 2. Only three of the five patients with pseudotumor cerebri had typical periodic discharges on electroencephalographic examination. These findings suggest that subacute sclerosing panencephalitis can cause pseudotumor cerebri. [Copyright &y& Elsevier]

Copyright of Journal of Exercise Therapy & Rehabilitation is the property of Yavuz Yakut and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Exercise Therapy & Rehabilitation is the property of Yavuz Yakut and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Türk Pediatri Arşivi is the property of Aves Yayincilik Ltd. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: The General Movement Assessment (GMA) is a video analysis method developed by Heinz Prechtl that examines the infant's spontaneous movements. In recent years, although many studies have been performed in preterm infants by applying GMA, few studies have shown the effects of early intervention on GMA.Aims: Current study was planned to determine the acute effects of a single-session early physiotherapy approach on preterm infants' general spontaneous movements, and to reveal the change in Motor Optimality Scale (MOS) score including FMs.Study Design: Prospective, single-blind study.Subjects: Current study was carried out with 32 preterm infants at postterm 12-16 weeks.Outcome Measures: The infants included in the study were videotaped by a physiotherapist during 10-15 min before the physiotherapy session at postterm 12-16 weeks for GMA. After a single physiotherapy session, the same physiotherapist performed the same video footage second time. A blind evaluator assessed the videos taken before and after session and scored Motor Optimality Scale (MOS).Results and Conclusions: There was no statistically significant difference between MOS sub-category and total score of the infants before and after the session (p > 0.05). According to the results of present study, a single-session early physiotherapy intervention did not have an acute effect on the spontaneous movements of preterm infants at postterm 12-16 weeks. Future studies are needed to demonstrate the short and long-term effects of early physiotherapy approaches to risky infants. [ABSTRACT FROM AUTHOR]

Giriş: Malign migrat uvar Parsiyel epilepsi özellikle erken infantil döneme başlayan durdurulamayan dirençli nöbetlerle seyreden, nedeni anlaşılamamış nadir epileptik bir sendromdur. Nöbetler bir çok ilaca dirençlidir. EEG'de yer değiştiren multifokal epileptik aktiviteler görülmesi karakteristiktir. Burada 1 yaşında Malign migratuvar parsiyel epilepsi tanısı alan bir süt çocuğunda dirençli nöbetler ve çoklu antiepileptik ilaç kullanımı sonrasında stiripentol tedavisi sonrası görülen klinik düzelme gösterilmiş tir. Olgu: On iki aylık hastamız ilk defa 2 aylıkken başlayan nöbetleri nedeni le epilepsi tanısı ile izlenmektedir. İlk başlayan krizler alt ve üst ekstremiteyi içeren klonik nöbetlerden oluşuyordu. Sonra bu nöbetler sabit bir noktaya bakma ve sağ alt-üst ekstremiteyi içeren hemiklonik nöbetler şeklinde değişti. Hasta başvusunda Fenobarbital, Klonazepam ve valproat tedavisi almaktaydı. Nörolojik muyanesinde aksiyal hipotoni ve orta düzeyde gelişim geriliği mevcu ttu. Rutin hematolojik, biyokimyasal, metabolik taramalar ve kraniyal mr normal bulundu. Takipleri devam ederken hastanın nöbetlerinde değişiklikler devam etti; başın sağa deviasyonu ve beraberinde gözlerin tonik deviasyonu şeklinde nöbetler olmaya başladı, bazen bu nöbetleri kusma ve çiğneme nöbetleri izledi. Çekilen EEG de sol ve sağ frontal ve central, sol parietalde, multipl yer değiştiren iktal paternler kaydedildi. Hastaya kullandığı tedavilere ek olarak Levasitretam eklendi. Nöbet sıklığı %50 azaldı. Tedaviye ketojenik diet eklendi ancak fayda görülmedi. Krizleri devam eden hastaya Stiripentol tedavisi eklendi. Nöbetlerinin başlangıcından 10 ay sonra tam nöbet kontrolu sağlandı. Tartışma: Malign migratuvar Parsiyel epilepsi özellikle erken infantil döneme başlayan durdurulamayan dirençli nöbetlerle seyreden, nedeni anlaşılamamış nadir epileptik bir sendromdur. İlk önce fokal motor nöbetlerle başlayan hastalık ardından her iki heminsferi içine alan nöbetlerle devam eder. Dirençli bu nöbetler şiddetli psikomotor retardasyona neden olur. Nöbetler bir çok ilaca dirençlidir. EEG de yer değiştiren multifokal epileptik aktiviteler görülmesi karakteristiktir. Nöbetleri kontrol altına alınan hastalarda nörolojik gelişimin düzeldiği görülmüştür. Literaturde bu sendrom için en uygun tedavi yaklaşımının leverirasetam ile başlanması ardından benzodiazepin ve dirençli vakalarda stiripentol tedavisi denenmesi vurgulanmıştır. Nöbetlerin durdurulması hastaların nörolojik gelişimlerini olumlu etkilediğinden erken ve etkin tedavi prognozda çok önemli olduğu görülmektedir. Burada 1 yaşında Maliğn migratuvar parsiyel epilepsi tanısı alan bir süt çocuğunda dirençli nöbetler ve çoklu antiepileptik ilaç kullanımı sonrasında stiripentol tedavisi sonrası görülen klinik düzelme gösterilmiştir. [ABSTRACT FROM AUTHOR]

Objective: In this study, we aimed to evaluate cases of meningitis for epidemiologic, clinical, laboratory findings and the treatment response. Materials and methods: We evaluated ninety two patients whose diagnosis were meningitis retrospectively between January 2010 and December 2011, for age, gender, presenting symptoms, physical examination, laboratory findings and treatments. The patients who were hospitalized with central nervous system infection were diagnosed as meningitis by examination of cerebrospinal fluid (CSF) under a microscope and evaluation of biochemical (glucose, protein, chloride) results and / or culture. Results: Fifty patients were male and 42 were female, mean age was 4.2 ± 4.1 years. The most common symptoms were fever (91.3%), vomiting (87.0%), headache (68.5%), and convulsion (20.7%). On physical examination in descending order neck stiffness (60.9%), Brudzinski phenomenon (50%), Kernig sign (46.7%), altered consciousness (16.3%) and rash (2.2%) were detected. When patients were classified in terms of clinical and laboratory findings; bacterial meningitis was determined 53.4%, aseptic in 38% and tuberculous meningitis in 7,6%. CSF and blood culture were positive in 13 of and seven of the cases respectively. The most frequent complications were seizures, cranial nerve palsy, hydrocephalus and the syndrome of inappropriate ADH. Mortality rate was determined as 2.2%. Conclusion: The patients especially with symptoms of fever, vomiting, headache and convulsions, meningitis should be considered primary disease. [ABSTRACT FROM AUTHOR]

Moyamoya (MMD) is a disease that often involves the vascular structures of anterior cerebral circulation, particularly the proximal segments of anterior and middle cerebral arteries. The etiology of the disease is unknown. MMD often presents with cerebral ischemia and rarely with cerebral hemorrhage. The pathology is termed Moyamoya syndrome (MMS) when the pathological cerebral angiography findings are accompanied by meningitis, neurofibromatosis, neoplasm, Down syndrome or polycystic kidney disease. Autoimmune diseases including Graves' disease, Behcet's disease and antiphospholipid syndrome might also lead to the development of MMS. In this manuscript, we presented an interesting case of MMD associated with antiphospholipid syndrome, which is quite a rare cause of acute cerebral infarction in childhood. [ABSTRACT FROM AUTHOR]