The Spectrum of Underlying Diseases in Children with Torticollis.

AIM: To investigate the underlying conditions in children with torticollis. MATERIAL AND METHODS: Between May 2016 and December 2019, 24 patients (10 girls and 14 boys; mean age, 8 years) presenting with twisted neck, neck pain, weakness of extremities, imbalance, and gait disorder were evaluated retrospectively. RESULTS: Five of the patients had cranial pathologies (cerebellar anaplastic ependymoma and medulloblastoma, brain stem glioma, atypical teratoid rhabdoid tumor, and acute disseminated encephalomyelitis), and five of the patients had spinal pathologies (idiopathic intervertebral disc calcification, vertebral hemangiomatosis, compression fracture, multiple hereditary exostoses, and Langerhans cell histiocytosis at C4). Six of the patients had ocular pathologies (strabismus, Duane syndrome, and Brown syndrome each in two patients). Four patients had otorhinolaryngological infections (Sandifer syndrome, esophageal atresia, reflux, and spasmus nutans, with one patient each). Detailed clinical physical examination and necessary laboratory investigation were performed for all patients. CONCLUSION: Torticollis is a sign that is not always innocent and may herald an underlying severe disease. Misdiagnosis can lead to wrong and unnecessary surgical procedures and treatments, and sometimes, the results can be damaging due to underlying severe conditions if diagnosed late. In addition, we first report a case of vertebral hemangiomatosis and temporomandibular joint ankylosis that presented with torticollis in the English medical literature.

Chromosomal and oxidative DNA damage in non-functioning pituitary adenomas.

INTRODUCTION: Clinically non-functioning pituitary adenomas (NFPA) are common tumours of the pituitary gland and are mainly considered as benign. The primary aim of this study was to research the effects of NFPA on genome instability in patients with non-functioning pituitary adenoma by using the cytokinesis-block micronucleus cytome (CBMN-cyt) assay and 8-hydroxy- 2'-deoxyguanosine (8-OHdG) assay. The second objective of this study was to assess whether there is a relationship between age, pituitary adenoma diameters, 8-OHDG levels, CBMN site assay parameters, and tumour aggressiveness. MATERIAL AND METHODS: The study was performed on 30 patients who had been diagnosed with NFPA and were admitted to the Department of Endocrinology and Metabolism, and 20 healthy subjects of similar age and sex. RESULTS: Micronucleus (MN), nucleoplasmic bridges (NPBs), nuclear bud (NBUD) frequencies, and apoptotic and necrotic cell frequencies in patients with NFPA were found to be significantly higher than in control subjects, and plasma 8-OHdG levels in patients with NFPA were statistically significantly lower than control subjects in this study. CONCLUSIONS: It is believed that this is the first study to evaluate the aggressiveness of tumour with chromosome/oxidative DNA damage in patients with NFPA. However, further studies are needed in order to understand the cause of NFPA aggression and to evaluate these patients in terms of risk of cancer.

A single-center observational study assessing the predictive factors associated with the prognosis of acromegaly.

AIM: The aim of this study was to clarify the prognostic values of various preoperative factors, including the surgeon's ability as well as the patient's age, gender, tumor size, cavernous sinus invasion, compression of the optic chiasm, hypopituitarism, immunohistochemical (IHC) staining pattern of the adenoma, and insulin-like growth factor-1 (IGF-1) level, in acromegalic patients who had undergone pituitary surgery. STUDY DESIGN: This single-center, retrospective study assessed the medical records of 108 patients who had undergone pituitary surgery with the same neurosurgical team. RESULTS: The mean total follow-up period after surgery was 44.8 (min: 24, max: 59) months. Remission was reported in 67 (62.0%) patients, and 57 (52.8%) patients did not experience recurrence. Initial tumor volume, IGF-1 level, and optic chiasm compression, but not patients' age, gender, cavernous sinus invasion, and IHC staining patterns of the adenoma, were prognostic of either remission or recurrence. An IGF-1 level of 860 ng/mLwas found to be a convenient cut-off point for determining remission. CONCLUSIONS: The experience of the surgical team suggests that the initial tumor volume, IGF-1 level, and optic chiasm compression have high prognostic values in relation to pituitary surgery for patients with acromegaly.

The significance of estrogen receptors in acromegaly: Are they useful as predictors of prognosis and therapy regimen?

OBJECTIVE: In this study, we considered to assess the presence of estrogen receptors (ER) and the expression of estrogen receptor genes (ESR) in the surgical tissue samples of acromegaly patients and the control group patients with nonfunctioning adenoma and their association with disease activity. We also aimed to determine the significance of ER positivity in acromegaly patients and to find out whether it carries a potential to be used as a predictor of prognosis and therapy regimen in the future. DESIGN: This study was conducted on a total of 67 patients over 18 years of age. The study group consisted of 34 patients with acromegaly and 33 patients with nonfunctioning pituitary adenoma. The pre- and post-operative basal pituitary hormone levels and magnetic resonance images (MRI) of all patients, as well as their remission status of all acromegaly patients were evaluated. Immunohistochemical (IHC) staining procedures for ER-α were performed on surgical tissue samples. Real-time quantitative polymerase chain reaction (RT-qPCR) method was used to determine the levels of ESR1 and ESR2 gene expressions. RESULTS: We found that IHC staining for ER-α was positive in 31.3% and 45.5% of the patients with acromegaly and nonfunctioning adenoma respectively. There was no statistically significant difference of ER-α positivity, ER-α immunoreactivity score and ESR1/ESR2 gene expression levels among the study groups (p > .05). Nevertheless, the expression of ESR1 gene was found to be 0.26 times more, and the ESR2 gene to be 0.11 times less in the acromegaly group compared to those of the nonfunctioning adenoma group. Additionally, we detected the positivity of ER-α only in acromegaly patients who were in remission. An inverse association was found between the pre-operative insulin-like growth factor-1 (IGF-1) levels and the expressions of ESR1/ESR2 gene in acromegaly patients. So these results indicated that the high ESR1 and ESR2 gene expressions in acromegaly patients are associated to the decrease of pre-operative IGF-1 values. Also an inverse association was found between the pre-operative adenoma volume and ESR1 Ct values, means that increase in ESR1 gene expression is associated to the decrease of adenoma volume. CONCLUSIONS: The current results may suggest the use of these parameters as useful prognostic markers because all ER-positive acromegaly patients were in remission and the high ESR1 and ESR2 gene expressions in acromegaly patients is associated to the decrease of pre-operative IGF-1 values. Our results need to be supported by further studies.

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.

Pediatric central nervous system tumors in the first 3 years of life: pre-operative mean platelet volume, neutrophil/lymphocyte count ratio, and white blood cell count correlate with the presence of a central nervous system tumor.

PURPOSE: The aim of this study is to describe the relationship of pre-operative complete blood count parameters [mean platelet volume (MPV), neutrophil/lymphocyte count ratio (NLCR), and white blood cell count (WBC)], with the clinical, radiological, and histopathological features and the management options for patients under 3 years of age with a newly diagnosed central nervous system tumors. METHODS: Children with central nervous system (CNS) tumors in the first 3 years of life admitted in the Erciyes University Hospital between April 2004 and April 2014 were enrolled in this study. The CBC parameters were compared with those of an age- and sex-matched normal control group. RESULTS: In the study group, the means of MPV and WBC were 8.00 ± 1.24 fl, and 10,855 ± 3642/mm3 respectively; the median (25-75%) of NLCR was 0.98 (0.66-1.46). For the control group, the means of MPV and WBC were 6.8 ± 0.73 fl and 8565 ± 2522/mm3; the median (25-75%) of NLCR was 0.52 (0.36-0.70). The MPV, WBC, and NLCR were higher in the study group. The median overall survival (OS) of the patients was 60 months (range 0-81.6 months); and median event free survival (EFS) was 24 months (range 0-70.1 months). The formulation of MPV, NLCR, and WBC was found to be predictive for the diagnosis of CNS tumor in children with nonspecific symptoms. The univariate and multiple binary regression analyses showed a positive association of MPV, NLCR, and WBC and the risk of a diagnosis of CNS tumor. There was no relationship between MPV, WBC, NLCR, and histological subgroups. However, there were no associations between CBC parameters and OS or EFS of the patients. CONCLUSIONS: By causing suspicion, MPV, NLCR, and WBC may provide both an earlier radiological investigation decision and thereby an early diagnosis of CNS tumor in children with nonspecific symptoms in the first 3 years of life.

Is Positive Staining of Non-Functioning Pituitary Adenomas for Luteinizing Hormone Associated with a Poor Prognosis?

AIM: The aim of this study was to assess the relationships among immunohistochemical staining patterns and prognostic factors in patients with non-functioning pituitary adenoma (NFPA). MATERIAL AND METHODS: The study included 103 patients who had undergone pituitary surgery for NFPAs. The prognostic factors evaluated were initial tumor size, cavernous sinus invasion, compression of the optic chiasm, recurrence, residual tissue, reoperation, and hypopituitarism. RESULTS: Recurrence rates were higher for NFPAs with large initial tumor volume and preoperative cavernous sinus invasion. Tumor recurrence rates were higher for NPFAs positive (55.6%) than negative (10.3%) for luteinizing hormone (LH). Reoperation rate, but not recurrence rate, was higher in patients with tumors positive than negative for follicle-stimulating hormone (FSH) group. Recurrence and reoperation rates were lowest in patients with null-cell adenomas. CONCLUSION: In contrast to previous studies, we observed a higher recurrence rate in LH-positive than in LH-negative adenomas. To our knowledge, this is the first study showing an association between LH positivity and poorer prognosis; and in addition, optimal outcomes in patients with null-cell adenomas. Thus, additional studies are required to assess the relationship between LH positivity and poor prognosis in patients with NFPAs.

The Management of Blood Loss in Non-Syndromic Craniosynostosis Patients Undergoing Barrel Stave Osteotomy.

AIM: Barrel stave osteotomy is a widely used procedure in neurosurgery for the majority of craniosynostosis patients. Both in the intraoperative and postoperative periods, there is inevitable leakage type bleeding from the bones undergoing osteotomy. A number of studies have been performed in order to prevent this complication but a concise procedure is still lacking. MATERIAL AND METHODS: Synostectomy and parietotemporal barrel stave osteotomy were applied to 143 patients who were operated on with a diagnosis of craniosynostosis between the years 2005-2013. At the beginning to osteotomy, 5 ml/kg erythrocyte suspension (ES) was given for probable blood loss. Whole blood count was performed at the postoperative 1st and 6th hours and cases with hemoglobin levels below 10 or with hematocrit levels which had decreased more than 5% between the 1st and 6th hours were administered erythrocyte transfusion. RESULTS: Of the patients, 100 were boys and 43 were girls. Of these, 98 had metopic, 30 had sagittal, 9 had metopic+sagittal, 4 had unilateral, 2 had bilateral and 6 had coronal synostosis. All the cases were administered intraoperative erythrocyte suspension. The preoperative amount of administered mean erythrocyte was 8.61 ml/kg. In the postoperative period, 92 patients were administered erythrocyte suspension. The postoperative amount of administered mean erythrocyte suspension was 7.98 ml/kg. CONCLUSION: For an operated infant with craniosynostosis who is operated on in the first year of life, undergoing osteotomy and inevitable bone-borne blood losses are very important and these have to be replaced immediately.

Intratumoral Ethyl Alcohol Injection for Devascularization of Hypervascular Intracranial Tumors.

AIM: Hypervascular intracranial tumors may cause serious bleeding in surgery. Though pre-operative endovascular embolization of tumor is a widely accepted method, sometimes despite embolization, an effective and safer intraoperative hemostatic technique is needed to prevent or at least decrease the massive bleeding from the tumors. The aim of this study was to investigate the effect of the ethyl alcohol (EA) injection in hypervascular tumors and find out whether it is likely to be an alternative method to prevent massive bleeding from tumor. MATERIAL AND METHODS: Fifty-five cases that had hypervascular intracranial tumor and underwent EA injections into their tumors were included in the study. A small amount (0.1-0.2 ml) of EA was used in every injection. Total EA amount differed from 1.2 to 18 ml for each patient. RESULTS: Most of the tumors were removed with less bleeding, because bleedings stopped or decreased during resection after EA injections. No serious complication that might be related to EA was observed. CONCLUSION: EA injection into the tumor is an easy, cheap and less invasive method to obtain effective and safe tumor devascularization. It may be an alternative method for tumor devascularization when preoperative embolization cannot be performed due to any reason or severe bleeding despite embolization.

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.

Evaluation of Aggressive Behavior and Invasive Features of Pituitary Adenomas Using Radiological, Surgical, Clinical and Histopathological Markers.

AIM: Total surgical resection of pituitary macroadenomas is difficult due to the location of the adenoma and the propensity to invade surrounding tissues. The purpose of this study was to evaluate the risk factors for invasive and aggressive pituitary macroadenomas using radiological, hormonal, clinical, and immunohistochemical markers. MATERIAL AND METHODS: Seventy cases of pituitary macroadenoma were examined. Age, gender, symptoms, the presence of fibrosis within the adenoma, hormonal levels, radiological findings, pathological results and immunohistochemical staining of the patients were evaluated using statistical methods. RESULTS: We observed that the patients with macroadenomas in our study most frequently presented during their 5th decade. The most frequent pituitary adenomas were non-functional, GH-secreting and PRL-secreting macroadenomas. The most frequent complaint was vision loss, headache and acral growth. Based on Magnetic Resonance Imaging (MRI) results, it was observed that the degree of invasion into surrounding tissues increased as the size of the macroadenoma increased. Macroadenomas that had invaded into the cavernous sinus invasion or that had a fibrotic tumor structure had a low probability of being resectable. There were no significant relationships between invasive behavior and p53, telomerase, ghrelin and CD46. CONCLUSION: It is not possible to identify only one factor that affects the prognosis of patients with pituitary macroadenomas. The contribution of the experience of surgeon to the treatment is surely beyond dispute. Fibrotic tumor structure, the surgical technique, the type of hormone, and cavernous sinus invasion affect the ability to perform a total resection and the overall prognosis.

The Results of the Surgical Treatment of Spontaneous Rhinorrhea via Craniotomy and the Contribution of CT Cisternography to the Detection of Exact Leakage Side of CSF.

AIM: To share the results of conventional surgery in rhinorrhea and the contribution of computerized tomography (CT) cisternography to determination of the site of cerebrospinal fluid (CSF) leak. MATERIAL AND METHODS: Twelve cases treated for spontaneous rhinorrhea were included in this study. All the cases underwent cranial CT and magnetic resonance imaging (MRI). CT cisternography was performed in four patients whose bone defect or leakage site could not be detected by CT and MRI. In order to repair the defect, either the galea or galea together with collagen matrix was used and the procedure was supported with fibrin glue. RESULTS: In the cases, postoperative rhinorrhea was seen in neither the early nor the late follow up period. We observed no complications related to CT cisternography or craniotomy. The leakage area was successfully detected with CT cisternography when the other methods failed. CONCLUSION: Bone defect can usually be shown by means of CT. However, when bone-defect cannot be shown or the dura in the defective area is intact, CT cisternography is useful to show the CSF leak. Conventional surgery was very succesful in the treatment of spontaneous rhinorrhea but it was cosmetically problematic. In the patients both treated with galea and galea together with collagen matrix, the repair of the defect was successful.

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.

Brain abscesses in children: results of 24 children from a reference center in Central Anatolia, Turkey.

Childhood brain abscesses are a rare and potentially life-threatening condition requiring urgent diagnosis and treatment. This retrospective study analyzed the clinical and radiologic findings of 24 (7 girl, 17 boys) cases with brain abscess. Mean age was 92.98 ± 68.04 months. The most common presenting symptoms were nausea-vomiting (45.8%) and headache (41.7%). Brain abscess was most commonly located in the frontal region. Diffusion restriction was determined in 78.4% of lesions. The mean apparent diffusion coefficient value in these lesions was 0.511 ± 0.23 × 10(-3) mm(2)/s. Cultures were sterile in 40% of cases. Antimicrobial therapy was given to only 16.7% of cases. Predisposing factors were identified in 91.6% of cases (congenital heart disease in 20.8% and immunosuppression in 20.8%). Mortality level was 12.5%. In conclusion, immunocompromised states, and congenital heart disease have become an important predisposing factor for brain abscesses. Effective and prompt management should ensure better outcome in childhood.

Prognostic factors obtained from long-term follow-up of pituitary adenomas and other sellar tumors.

AIM: Pituitary adenomas do not have a single factor of aggressive behavior or recurrence. The objective of this study was to determine factors influencing the prognosis in pituitary adenomas. MATERIAL AND METHODS: 243 patients who were operated between January 2000 and June 2012 were included in this retrospective study. Demographic data, age at diagnosis, date of diagnosis, date of operation, type of operation, post-operative medications, pre- and postoperative hormone levels, and MRI findings were evaluated in each patient. RESULTS: The rate of total resection of sellar tumors was less than 50% in our patient population. The prognosis was better in cases with total resection. Tumor size was a poor prognostic factor in sellar tumors. Female sex was a poor prognostic factor in acromegaly and male sex in prolactinoma. The prognosis was worse in patients with cavernous sinus invasion. In acromegaly, pre-operative level of 850 ng/ml for IGF-1 was noted as a possible prognostic cut-off value. CONCLUSION: Long-term follow-up results of our study suggest that factors common to all sellar tumors including tumor type, tumor size, total resection, and cavernous sinus invasion and tumor type-specific factors including sex and hormone levels play important roles in the prognosis.

[Cladophilaphora bantiana brain abscess treated with voriconazole in an immunocompetent patient]. / Immün kompetan bir hastada vorikonazol ile tedavi edilen Cladophilaphora bantiana beyin apsesi.

Phaeohyphomycosis is a term used to define infections caused by darkly pigmented fungi with septate hyphae which contain melanin in their cell walls. Although fungi rarely cause central nervous system (CNS) infections, the incidence of CNS infections caused by melanin-containing fungi has been increasing in the recent years. Cladophialophora bantiana is the most frequently isolated species from cerebral phaeohyphomycosis. It mostly affects adult men in the second and third decade of life and about half of the cases occurs in immunocompetent patients. In this report, the isolation of C.bantiana from brain tissue of an immunocompetent patient who was operated with the initial diagnosis of a brain abscess, was presented. A 27 year-old male patient presenting without any chronic disease was admitted to the emergency department of our hospital with the complaints of persistent headache and diplopia. Magnetic resonance imaging (MRI) showed a space-occupying lesion in the right parietal lobe and left frontal lobe. Brain abscess was diagnosed in the patient who was referred to the neurosurgery department. Treatment was initiated with ceftriaxone and metronidazole. The abscess material sent for direct microscopic examination in the mycology laboratory was stained with Gram and Giemsa and cultured in the Sabouraud dextrose agar medium (SDA) with and without antibiotics (cycloheximide and chloramphenicol). Then, it was incubated at 37°C and 25°C. Direct examination and staining revealed a septate hyphae. The patient who received liposomal amphotericin B was referred to the infectious diseases department. Surface colors of all media including SDA with cycloheximide were olive-gray to black and contained velvety colonies. Lemon-like very long and integrated chains of conidium with poor branching in cornmeal Tween 80 agar, as well as growth at 42°C in passages, positive urease test result and cycloheximide resistance suggested C.bantiana. The isolate was confirmed as C. bantiana based on its DNA sequence analysis. Minimum inhibitor concentration (MIC) values for amphotericin B, voriconazole, caspofungin, and posaconazole were 2 µg/ml, 0.03 µg/ml, 0.03 µg/ml and 0.03 µg/ml, respectively. Liposomal amphotericin B was replaced with voriconazole due to the antifungal susceptibility profile. The patient who was symptom-free was discharged at 24 days after hospitalization with oral voriconazole treatment. In conclusion, cerebral phaeohyphomycosis should be considered in immunocompetent individuals. Given the fact that early diagnosis saves lives, such specimens should promptly be sent for mycological analysis.

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.

Different etiologies of acquired torticollis in childhood.

INTRODUCTION: Torticollis 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. OBJECTIVE: We performed this study to evaluate the underlying causes of torticollis in childhood. MATERIAL AND METHODS: Ten 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. 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 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.

Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86.

PURPOSE: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in various organ systems. We would like share our experience from 86 patients and the results of rapamycin treatment in seven children with TSC. METHODS: Eighty-six children with TSC were enrolled into this retrospective study. The clinical features of seven children treated with oral rapamycin were presented in detail. RESULTS: The most common complaint of administration was convulsion in 77 children (89.5%). Hypopigmented skin lesions, adenoma sebaceum, resistant epilepsy, intracardiac mass, renal angiomyolipomas, and West syndrome were detected (n = 83, 96.5%; n = 47, 54.7%; n = 36, 41.9%; n = 27, 31.4%; n = 18, 20.9%; and n = 13, 15.1%, respectively). Subependymal nodules were the most frequent finding in cranial imaging followed by cortical tubers and subependymal giant cell astrocytomas (n = 75, 87.2%; n = 71, 82.6%; and n = 8, 9.3%, respectively). Of the seven patients treated with rapamycin, the lesions of six children with facial adenoma sebaceum showed regression in various degrees. The frequency of convulsions decreased in five patients with resistant epilepsy within the first 6 months of the treatment, and complete control of convulsion for all patients was achieved in the second 6 months. CONCLUSION: This is the first study that showed that rapamycin is an effective agent for controlling epilepsy without any significant side effect in children with TSC. Rapamycin seems to be effective after 6 months of therapy, and we recommend tapering the dosage after successful management of epilepsy.