Pars plana vitrectomy combined with pan-retinal photocoagulation, Ahmed glaucoma valve implantation, and/or phacoemulsification for complicated neovascular glaucoma treatment / Vitrectomia pars plana combinada com fotocoagulação panretiniana, implantação da válvula Ahmed para glaucoma e/ou facoemulsificação para tratamento de glaucoma neovascular complicado

ABSTRACT Purpose: To present long-term results of pars plana vitrectomy combined with pan-retinal endolaser photocoagulation, Ahmed glaucoma valve implantation, and/or phacoemulsification in patients with complicated neovascular glaucoma. Methods: The study comprised 15 eyes from 15 patients with neovascular glaucoma as a complication of diabetic retinopathy and owing to ischemic central retinal vein occlusion. There was a vitreous hemorrhage n all of the patients. Furthermore, 8 of the cases showed varying degrees of hyphema. All subjects received an intravitreal injection of bevacizumab three days before surgery. In 12 phakic patients, phacoemulsification, pars plana vitrectomy, and Ahmed glaucoma valve implantation were performed. Pars plana vitrectomy and Ahmed glaucoma valve implantation were performed in 3 pseudophakic patients. Perioperative and postoperative complications, intraocular pressure values, and best-corrected visual acuity scores were also recorded. Results: The mean follow-up was 24.4 ± 14.56 months. The mean preoperative intraocular pressure was 50.06 ± 7.6 mmHg. At 1 day, 7 days, and 1-, 3-, 6-, 12-month, and last visit following surgery, the mean intraocular pressure was 11.06 ± 8.22, 12.66 ± 7.27, 13.8 ± 7.73, 18.64 ± 7.05, 19.28 ± 4.61, 16.28 ± 1.68, and 16.92 ± 2.12 mmHg, respectively (p=0.001 for every follow-up visit). The mean visual acuity on the most recent appointment was 1.18 ± 0.42 logMar (p=0.001 for each subsequent visit). As postoperative early complications, varying degrees of hyphema and fibrin reactions were recorded. During follow-up, one patient developed phthisis bulbi. In 4 cases, Ahmed glaucoma valve revision surgery was required. Conclusions: In patients with complicated neovascular glaucoma, combined surgical procedures are safe, effective, and preferable both in terms of controlling high intraocular pressure and providing reasonable visual abilities.

RESUMO Objetivo: Apresentar nossos resultados de longo período de vitrectomia pars plana combinada com fotocoagulação panretiniana com endolaser, implantação da válvula Ahmed para glaucoma e/ou facoemulsificação em pacientes com glaucoma neovascular complicado. Métodos: Foram incluídos no estudo 15 olhos de 15 pacientes com glaucoma neovascular como complicação da retinopatia diabética e devido à oclusão isquêmica da veia central da retina. Todos os casos tiveram hemorragia vítrea. Além disso, 8 dos casos apresentaram diferentes graus de hifema. A injeção intravítrea de bevacizumabe foi administrada em todos os casos 3 dias antes da cirurgia. Facoemulsificação, vitrectomia pars plana e implantação da válvula Ahmed para glaucoma foram realizadas em 12 pacientes fáquicos. A vitrectomia pars plana e a implantação da válvula Ahmed para glaucoma foram realizadas em 3 pacientes pseudofáquicos. Complicações perioperatórias e pós-operatórias, valores de pressão intraocular e valores de melhor acuidade visual corrigida pré-operatório e pós-operatório foram registrados. Resultados: O acompanhamento médio foi de 24,4 ± 14,56 meses. A média da pressão intraocular pré-operatória foi de 50,06 ± 7,6 mmHg. Em 1 dia, 7 dias e 1,3,6,12 meses, e última visita após cirurgia, a média da pressão intraocular foi de 11,06 ± 8,22, 12,66 ± 7,27, 13,8 ± 7,73, 18,64 ± 7,05, 19,28 ± 4,61, 16,28 ± 1,68 e 16,92 ± 2,12 mmHg, respectivamente (p=0,001 para cada visita de acompanhamento). A média da acuidade visual na última visita foi de 1,18 ± 0,42 logMar (p=0,001 para cada visita de acompanhamento). Vários graus de reações de hifema e fibrina foram registrados como complicações precoces pós-operatórias. Phthisis bulbi foi desenvolvido em um caso durante o acompanhamento. A cirurgia de revisão da válvula Ahmed para glaucoma foi necessária em 4 casos. Conclusões: Os procedimentos cirúrgicos combinados que realizamos são seguros, eficazes e preferenciais, tanto em termos de controle da alta pressão intraocular quanto fornecimento de habilidades visuais razoáveis em pacientes com glaucoma neovascular complicado.

Pars plana vitrectomy combined with pan-retinal photocoagulation, Ahmed glaucoma valve implantation, and/or phacoemulsification for complicated neovascular glaucoma treatment.

PURPOSE: To present long-term results of pars plana vitrectomy combined with pan-retinal endolaser photocoagulation, Ahmed glaucoma valve implantation, and/or phacoemulsification in patients with complicated neovascular glaucoma. METHODS: The study comprised 15 eyes from 15 patients with neovascular glaucoma as a complication of diabetic retinopathy and owing to ischemic central retinal vein occlusion. There was a vitreous hemorrhage n all of the patients. Furthermore, 8 of the cases showed varying degrees of hyphema. All subjects received an intravitreal injection of bevacizumab three days before surgery. In 12 phakic patients, phacoemulsification, pars plana vitrectomy, and Ahmed glaucoma valve implantation were performed. Pars plana vitrectomy and Ahmed glaucoma valve implantation were performed in 3 pseudophakic patients. Perioperative and postoperative complications, intraocular pressure values, and best-corrected visual acuity scores were also recorded. RESULTS: The mean follow-up was 24.4 ± 14.56 months. The mean preoperative intraocular pressure was 50.06 ± 7.6 mmHg. At 1 day, 7 days, and 1-, 3-, 6-, 12-month, and last visit following surgery, the mean intraocular pressure was 11.06 ± 8.22, 12.66 ± 7.27, 13.8 ± 7.73, 18.64 ± 7.05, 19.28 ± 4.61, 16.28 ± 1.68, and 16.92 ± 2.12 mmHg, respectively (p=0.001 for every follow-up visit). The mean visual acuity on the most recent appointment was 1.18 ± 0.42 logMar (p=0.001 for each subsequent visit). As postoperative early complications, varying degrees of hyphema and fibrin reactions were recorded. During follow-up, one patient developed phthisis bulbi. In 4 cases, Ahmed glaucoma valve revision surgery was required. CONCLUSIONS: In patients with complicated neovascular glaucoma, combined surgical procedures are safe, effective, and preferable both in terms of controlling high intraocular pressure and providing reasonable visual abilities.

Corneal tattooing for esthetic purposes in patients with corneal opacities.

Purpose: This study evaluated corneal tattooing for esthetic purposes in patients with corneal opacification. Methods: Eight eyes of eight patients were included in the study (four males and four females). Corneal tattooing was achieved by stromal puncture in five patients, femtosecond laser-assisted corneal tattooing in two patients, and femtosecond laser-assisted corneal tattooing and stromal needling (combined procedure) in one patient. In six of the patients, the entire cornea was stained black; in one patient, the center of the cornea (3 mm) was stained black and the periphery was stained dark brown; and in the last patient, the corneal periphery was stained dark brown. Patient satisfaction was evaluated on the first day after surgery and at the last visit as follows: Very satisfied (4), satisfied (3), moderately satisfied (3), and not satisfied (1). Results: The patients ranged in age from 11-80 years. The mean satisfaction score of the patients was 4 and 3.5 on the first postoperative day and at the last visit, respectively. No complication occurred during or after surgery. Conclusion: Corneal tattooing for esthetic purposes was successful in both blind eyes and seeing eyes.

Pepper spray inhalation-induced acute polyneuropathy mimicking Guillain-Barre syndrome.

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.

Periferik nöropati sinir sisteminin toksik kimyasal maddelere karsi verdigi en sik görülen reaksiyonudur. Tani için özgün ya da biyolojik testlerin kolaylikla bulunmamasi ve maruziyetin bilinmemesi nedeni ile toksik nöropatiler siklikla yanlis tani alirlar. Guillain-Barre sendromu çocuk ve ergenlerde akut flask paralizinin en sik nedenidir; klinik bulgulari hastaligin baslangicinda distalde olup siklikla hizli ilerleme gösteren simetrik güçsüzlük ve arefleksidir. Agri, kanser, osteoartrit vb. birçok hastalik tedavisinde kullanim alani bulan kapsaisinin basta göz, deri, solunum ve dolasim sistemi olmak üzere birçok sistemde toksik etki gösterdigi, hatta ölüme götüren hastalik süreçlerini tetikledigi bilinmektedir. Uzun dönemdeki etkileri ile ilgili yeterli bilgi bulunmamakla birlikte, yüksek miktarlarda ve uzamis maruziyet durumunda toksik risklerin arttigi ve ölüme yol açabilecegi de bildirilmektedir. Olgumuzda biber gazi maruziyeti sonrasi Guillain-Barre sendromunu taklit eden polinöropati olgusu ilgi çekici olmasi nedeni ile sunulmustur.

Cerebral Sinus Venous Thrombosis and Prothrombotic Risk Factors in Children: A Single-Center Experience From Turkey.

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.

Magnetic resonance enterography in pediatric celiac disease / A enterografia por ressonância magnética na doença celíaca pediátrica

Abstract Objective: To assess if magnetic resonance enterography is capable of showing evidence/extent of disease in pediatric patients with biopsy-proven celiac disease by comparing with a control group, and to correlate the magnetic resonance enterography findings with anti-endomysial antibody level, which is an indicator of gluten-free dietary compliance. Methods: Thirty-one pediatric patients (mean age 11.7 ± 3.1 years) with biopsy-proven celiac disease and 40 pediatric patients as a control group were recruited in the study. The magnetic resonance enterography images of both patients with celiac disease and those of the control group were evaluated by two pediatric radiologists in a blinded manner for the mucosal pattern, presence of wall thickening, luminal distention of the small bowel, and extra-intestinal findings. Patient charts were reviewed to note clinical features and laboratory findings. The histopathologic review of the duodenal biopsies was re-conducted. Results: The mean duration of the disease was 5.6 ± 1.8 years (range: 3-7.2 years). In 24 (77%) of the patients, anti-endomysial antibody levels were elevated (mean 119.2 ± 66.6 RU/mL). Magnetic resonance enterography revealed normal fold pattern in all the patients. Ten (32%) patients had enlarged mesenteric lymph nodes. Conclusion: Although a majority of the patients had elevated anti-endomysial antibody levels indicating poor dietary compliance, magnetic resonance enterography did not show any mucosal abnormality associated with the inability of magnetic resonance enterography to detect mild/early changes of celiac disease in children. Therefore, it may not be useful for the follow-up of pediatric celiac disease.

Resumo Objetivo: Avaliar se a enterografia por ressonância magnética (ERM) consegue comprovar/mostrar a extensão da doença em pacientes pediátricos com doença celíaca (DC) comprovada por biópsia, comparar com um grupo de controle e correlacionar os achados da ERM com o nível de anticorpo antiendomísio (EMA) indicador de dieta sem glúten. Métodos: Foram recrutados 31 pacientes pediátricos (idade média entre 11,7 ± 3,1 anos) com DC comprovada por biópsia e 40 pacientes pediátricos em um grupo de controle. As imagens da ERM dos pacientes com DC e no grupo de controle foram avaliadas por dois radiologistas pediátricos às cegas para o padrão da mucosa, presença de espessamento da parede, dilatação luminal do intestino delgado e achados extraintestinais. Os prontuários dos pacientes foram revisados para anotação de características clínicas e achados laboratoriais. A avaliação histopatológica das biópsias duodenais foi feita novamente. Resultados: A duração média da doença foi 5,6 ± 1,8 anos (faixa de 3-7,2 anos). Em 24 (77%) dos pacientes, os níveis EMA estavam elevados (média 119,2 ± 66,6 RU/mL). A ERM revelou um padrão de pregas normal em todos os pacientes; 10 (32%) dos pacientes apresentaram gânglios linfáticos mesentéricos aumentados. Conclusão: Apesar de a maioria dos pacientes ter níveis elevados de EMA, o que indica uma dieta pobre, a ERM não mostrou anomalia na mucosa associada à incapacidade de a ERM detectar alterações leves/precoces de DC nas crianças. Portanto, ela pode não ser útil no acompanhamento da DC pediátrica.

A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct.

BACKGROUND: Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children. Central nervous system involvement of HLH can cause catastrophic results. METHOD: We present a case with cranial involvement of familial HLH type 4 who showed diffuse infiltration of white matter complicated with intracranial thrombosis. A 5-year-old girl from a consanguineous couple presented with fever and pancytopenia, and was referred to our hematology unit. Examination revealed fever, lymphadenopathy, and hepatosplenomegaly. Ultrasound examination revealed hepatosplenomegaly and free intra-abdominal fluid. HLH was revealed on bone marrow aspiration biopsy. Defective natural killer and T lymphocyte cytotoxicity using degranulation tests was determined. In the genetic analysis, syntaxin gene mutation was found. On T2-weighted and T2-fluid-attenuated inversion recovery magnetic resonance imaging (MRI), diffuse hyperintense signal changes of cerebral white matter, indicating white matter demyelination, were observed. A second brain MRI showed an acute infarct involving the left temporooccipital region. Immunosuppressive therapy according to the HLH 2004 protocol was started. The infarct resolved but white matter lesions were stable on the brain MRI that was performed 1 month later. Brain MRI taken 4 months after the first examination showed stable cerebral white matter lesions, but hyperintense signal changes appeared in the cerebellar white matter and were regarded as progression. The patient died because of infection despite immunosuppressive therapy. CONCLUSIONS: Physicians managing patients with HLH must be vigilant about the possibility of central nervous system involvement including stroke.

Apparent diffusion coefficient in differentiation of pediatric posterior fossa tumors.

PURPOSE: To investigate the contribution of preoperative apparent diffusion coefficient (ADC) values in the differential diagnosis of pediatric posterior fossa tumors. METHODS: Forty-two pediatric patients (mean age 7.76 ± 4.58 years) with intra-axial tumors in the infra-tentorial region underwent magnetic resonance imaging. ADC measurement was performed using regions of interest, obtained from the solid component of the mass lesions. ADC ratios were calculated by dividing the ADC values from the mass lesions by the ADC values from normal cerebellar parenchyma. Lesions were categorized as juvenile pilocytic astrocytoma (JPA), ependymoma and medulloblastoma based on histopathological diagnosis. ADC values of the lesions and histopathological diagnoses were statistically correlated. RESULTS: Histopathological diagnosis showed that 14 lesions were JPA, 10 were ependymoma; 18 were medulloblastoma. Both ADC values and ADC ratios were significantly correlated with tumor types (p <0.05). Astrocytoma was distinguished from ependymoma with sensitivity 85.7% and specificity 90% using an ADC ratio ≥1.7 and medulloblastoma was distinguished from ependymoma with sensitivity 100% and specificity 88.89% using an ADC ratio ≤1.18. CONCLUSION: Preoperative ADC values could differentiate the main histological subtypes of pediatric posterior fossa tumors with high sensitivity and specificity.

Magnetic resonance enterography in pediatric celiac disease.

OBJECTIVE: To assess if magnetic resonance enterography is capable of showing evidence/extent of disease in pediatric patients with biopsy-proven celiac disease by comparing with a control group, and to correlate the magnetic resonance enterography findings with anti-endomysial antibody level, which is an indicator of gluten-free dietary compliance. METHODS: Thirty-one pediatric patients (mean age 11.7±3.1 years) with biopsy-proven celiac disease and 40 pediatric patients as a control group were recruited in the study. The magnetic resonance enterography images of both patients with celiac disease and those of the control group were evaluated by two pediatric radiologists in a blinded manner for the mucosal pattern, presence of wall thickening, luminal distention of the small bowel, and extra-intestinal findings. Patient charts were reviewed to note clinical features and laboratory findings. The histopathologic review of the duodenal biopsies was re-conducted. RESULTS: The mean duration of the disease was 5.6±1.8 years (range: 3-7.2 years). In 24 (77%) of the patients, anti-endomysial antibody levels were elevated (mean 119.2±66.6RU/mL). Magnetic resonance enterography revealed normal fold pattern in all the patients. Ten (32%) patients had enlarged mesenteric lymph nodes. CONCLUSION: Although a majority of the patients had elevated anti-endomysial antibody levels indicating poor dietary compliance, magnetic resonance enterography did not show any mucosal abnormality associated with the inability of magnetic resonance enterography to detect mild/early changes of celiac disease in children. Therefore, it may not be useful for the follow-up of pediatric celiac disease.

Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey.

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.

Thoracic MRI evaluation of sarcoidosis in children.

BACKGROUND: Childhood sarcoidosis is a very rare granulomatous disorder with an unknown etiology. Stage 1 disease is the most common whereas stages 2, 3, and 0 are rare in children. OBJECTIVE: To evaluate thoracic findings of pediatric pulmonary sarcoidosis on MRI and to compare them with CT findings. METHODS: Between August 2010 and May 2015, seven consecutive pediatric patients (four male, three female; age range: 8-18 years, mean age: 13.5 ± 3.01 years) who were diagnosed with sarcoidosis were enrolled in our study prospectively. Inclusion criterion was patients with stages 1-4 sarcoidosis who underwent contrast enhanced chest CT for initial diagnosis or follow-up evaluation of thoracic findings and exclusion criteria were patients with stage 0 disease with extra-pulmonary manifestations (n = 4). RESULTS: Two patients who recovered from stage 2 to stage 0 were interpreted as normal. Five patients had abnormal findings on chest CT, including hilar/mediastinal lymphadenopathy (n = 5, 71%), nodules larger than 3 mm (n = 4, 57%), ground glass opacity (n = 4, 57%), thickening of the pleura/fissure (n = 3, 42%), interlobular septal thickening (n = 2, 28%), atelectasis (n = 1, 14%), consolidation (n = 1, 14%), bronchiectasis (n = 1, 14%), intraparenchymal and subpleural cysts (n = 1,14%), fibrotic bands (n = 1, 14%), and enlarged pulmonary artery (n = 1, 14%). Findings that were detected on CT but not observed by lung MRI were nodules <3 mm (n = 4, 57%), mild bronchiectasis and mild ground glass opacity (n = 1, 14%), and subpleural and intraparenchymal cysts (n = 1, 14%). The sensitivity and specificity of MRI were 85.2% and 100%, respectively. There was no statistically significant difference between lung MRI and CT in detecting the thoracic findings in stages 1, 2, and 4 sarcoidosis (P = 0.1336, 95%Cl). CONCLUSION: Contrast-enhanced lung MRI with fast imaging sequences is a highly sensitive imaging modality and comparable with CT in evaluating both lung and cardiac abnormalities in pediatric sarcoidosis. Given there is no associated ionizing radiation, chest MRI is a promising imaging modality in this pediatric patient population. Pediatr Pulmonol. 2017;52:494-499. © 2016 Wiley Periodicals, Inc.

Diffusion weighted imaging in differentiating malignant and benign neuroblastic tumors.

PURPOSE: Our aim was to assess diffusion weighted imaging (DWI) of neuroblastic tumors and whether apparent diffusion coefficient (ADC) value may have a role in discrimination among neuroblastoma, ganglioneuroblastoma and ganglioneuroma. MATERIAL AND METHODS: The DWIs (b = 0-800 s/mm(2)) of 24 children (13 girls, 11 boys) who were diagnosed neuroblastic tumors on histopathological examination (neuroblastoma = 15, ganglioneuroblastoma = 5, ganglioneuroma = 4) were evaluated retrospectively. The ADC maps were performed by drawing freehand ROI on PACS (Sectra Workstation IDS7, Linköping, Sweden). RESULTS: We observed a significant decrease in ADC value of neuroblastomas 0.869 ± 0.179 × 10(-3) mm(2)/s compared to ganglioneuroblastomas 0.97 ± 0.203 × 10(-3) mm(2)/s and ganglioneuromas 1.147 ± 0.299 × 10(-3) mm(2)/s (p = 0.026). There was no significant difference in between ganglioneuroblastoma and ganglioneuroma (p = 0.16). In detecting neuroblastomas; the sensitivity, specificity, negative and positive predictive values of ADC were 74, 67, 78.6, 66 % respectively with a cut-off value of 0.93 × 10(-3) mm(2)/s. CONCLUSION: Our study stands out as the most comprehensive study with larger sample size on this topic. Moreover, we are able to suggest a cut-off value which can discriminate neuroblastoma from ganglioneuroblastoma and ganglioneuroma. We believe that ADC will evolve to an objective, quantitative measurement in discrimination among malignant and benign neuroblastic tumors.

Familial moyamoya disease in two Turkish siblings with same polymorphism in RNF213 gene but different clinical features.

BACKGROUND: Moyamoya disease is an uncommon, progressive, and occlusive cerebrovascular disorder, predominantly affecting the terminal segment of the internal carotid arteries and its main branches. This occlusion results at the formation of a compensatory collateral arterial network (moyamoya vessels) developing at the base of the brain. The c.14576G>A variant in ring finger protein 213 (RNF213) was recently reported as a susceptibility gene for moyamoya disease. METHODS: We describe two Turkish pediatric siblings with moyamoya disease born to consanguineous, unaffected Turkish parents. RESULTS: The first patient (proband) is a 2-year-old boy who presented with afebrile focal seizures, moderate psychomotor retardation, paresis in the left upper and lower extremity, multiple infarctions of the brain, stenosis of the bilateral internal carotid artery and the middle cerebral artery, and stenosis of the right posterior cerebral artery. The second patient is a 10-year-old girl who is an elder sister of proband. She showed normal psychomotor development, millimetric signal enhancement without diffusion limitation of the brain, and stenosis of the bilateral internal carotid artery. CONCLUSION: We herein report pediatric sibling patients of moyamoya disease who have homozygous wild-type c.14576G>A variant in RNF213, showing different clinical course and disease severity. This is the first report of pediatric siblings with moyamoya disease from Turkey validating the genetic background of most frequent variant in East Asian patients with moyamoya disease.

Misdiagnosis of gastroesophageal reflux disease as epileptic seizures in children.

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.

Torticollis in children: an alert symptom not to be turned away.

PURPOSE: The aim of this study is to investigate the spectrum of underlying disease in children with torticollis. METHODS: We investigated the spectrum of underlying disease and to evaluate the clinical features of the children presented with torticollis in the last 2 years. RESULTS: 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. CONCLUSIONS: 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.

Inflammatory Myofibroblastic Tumor of the Kidney and Bilateral Lung Nodules in a Child Mimicking Wilms Tumor With Lung Metastases.

Renal inflammatory myofibroblastic tumor (IMT) is an extremely rare lesion especially in children. This report describes a case of renal IMT accompanied by multiple lung nodules mimicking Wilms tumor with lung metastasis in a 3-year-old boy. To our knowledge, this is a unique case of IMT which has not been reported in the literature previously.

Susceptibility-Based Differentiation of Intracranial Calcification and Hemorrhage in Pediatric Patients.

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.