Fetal subependymal giant cell astrocytoma: A case report and review of the literature.

BACKGROUND: Subependymal giant cell astrocytomas (SEGAs) appear approximately in 10% of patients with tuberous sclerosis. These tumors are most commonly diagnosed in childhood and adolescence, with in utero diagnosed SEGAs being an extremely rare entity. CASE DESCRIPTION: We present the case of a congenital SEGA detected in an antenatal ultrasound and further investigated with fetal magnetic resonance imaging (MRI) scans at 22 and 32 weeks of gestational age. At 9 days of age, the child underwent craniotomy and partial excision of the tumor, followed by a second more extensive operation 13 days later. The patient was subsequently administered mammalian target of rapamycin inhibitor (everolimus). CONCLUSION: In the latest follow-up MRI, at the age of two, the SEGA remained unchanged. Management of these tumors in neonates is challenging, mainly due to high morbidity and mortality of surgical treatment in these ages.

Giant intracranial congenital hemangiopericytoma/solitary fibrous tumor: A case report and literature review.

BACKGROUND: Hemangiopericytoma and solitary fibrous tumor (HPC/SFT) are considered to be one category according to the WHO 2016 classification of central nervous system tumors. HPC/SFT are subdivided into infantile (congenital) and adult type. Both are extremely rare entities, with little knowledge about etiology, prognosis, and optimal therapeutic strategy. CASE DESCRIPTION: A 10-day-old girl was referred to our neurosurgical department due to hypotonia, palsy of the right oculomotor nerve, and prominent frontal fontanel. Imaging studies revealed a large occupying mass in the right middle cerebral fossa and the suprasellar cisterns. Only a subtotal resection of the tumor was possible, and postoperatively, she underwent chemotherapy (CHx). After a 3-year follow-up, the girl has minimum neurologic signs and receives no medications, and she can walk when she is supported. CONCLUSION: Congenital HPC/SFT is considered to have a benign behavior with a good prognosis. Treatment with gross total resection, when it is feasible, is the key to a good prognosis and low rates of recurrence. However, there is no consensus on the therapeutic strategy of a HPC/SFT, which is difficult to be completely resected. Literature lacks a therapeutic algorithm for these tumors, and thus, more clinical studies are needed to reach a consensus.

Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.

Fibrous dysplasia of occipital and temporal bone. A case report.

Fibrous dysplasia is a rare non-malignant condition where fibrous tissue replaces the normal bone architecture. Involvement of temporal and occipital bones is exceptionally rare and is associated with unique complications. A 10-year-old boy presented with right retroauricular enlargement and pain. Imaging studies and biopsy revealed fibrous dysplasia of the temporal and occipital bones. There was no hearing loss or sequelae arising from posterior fossa compression. The patient was discharged with follow-up instructions. Only 10 cases of occipital bone fibrous dysplasia have been reported in the medical literature. Occipital bone fibrous dysplasia can be complicated with Chiari malformation and syringomyelia while temporal bone involvement is associated with hearing loss. These potential developments require close follow-up that includes detailed neurologic examination, imaging and audiology.

Intraparenchymal Pericatheter Cyst after Cerebrospinal Fluid Shunt: A Rare Complication with Challenging Diagnosis - Case Presentation and Review of the Literature.

An intraparenchymal pericatheter cyst is a rare complication of ventriculoperitoneal shunt, which is not well described yet. Due to its rarity, lack of characteristic symptoms and radiological features that often mimic brain tumors or abscesses, especially in head computed tomography without contrast can be easily misdiagnosed. We report the case of a 9-year-old girl who was admitted to a peripheral hospital due to severe headaches and vomiting. The child had a history of craniotomy and ventriculoperitoneal shunt for posterior fossa tumor, performed in our department, 4 years earlier. The patient underwent a brain magnetic resonance imaging (MRI) scan and transmitted to our hospital with the diagnosis of brain tumor. However, a closer look at the MRI established the diagnosis of intraparenchymal pericatheter cerebrospinal fluid cyst; hence, the patient underwent shunt revision and cyst drainage. We researched the literature and described 20 reported cases, discussing the pathophysiological mechanisms, the radiological features, and the optimal treatment of this interesting, yet a challenging complication.

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.

OBJECTIVE: Non-progressive genetic disorders may present with motor dysfunction resembling cerebral palsy (CP). Such patients are often characterized as CP mimics. The purpose of this work was to delineate the clinical manifestations and molecular findings of CP mimic patients, with the ultimate goal to offer specific disease-modifying therapy and genetic counseling. METHODS: Retrospective study of 47 patients diagnosed with CP and no acquired etiology. Chart review of clinical, neuroradiological, biochemical and molecular data was performed. RESULTS: 31,91% of patients manifested with features resembling dyskinetic CP, 19,14% spastic CP, 10,63% ataxic CP and 38,30% mixed CP. In 23 patients molecular diagnosis was reached and included 5 hereditary spastic paraplegia genes (SPG) in spastic CP mimics; HPRT1, TH, QDPR, DDC in dystonic CP mimics; ADCY5 and NIKX2-1 in choreic CP mimics; CANA1A in ataxic CP mimics; and SPG, PDHA1, NIKX2-1, AT, SLC2A1 and SPR in mixed CP mimics. In 14 patients, the etiological diagnosis led to specific treatment. CONCLUSIONS: CP mimics show a number of features that differ from classic CP and can be used as diagnostic clues, including presence of mixed motor features, minor dysmorphic features, oculogyric movements, multiple features of autonomic dysfunction, and acquired microcephaly. A more stringent use of the concept of CP focused on acquired lesions during the perinatal and infancy periods, and excluding disorders that could be of genetic origin, could contribute to a purer use of the term. Identification of a specific genetic cause for CP mimics may in certain cases lead to etiologic treatment.

Pediatric infratentorial subdural empyema: A case report.

BACKGROUND: Infratentorial subdural empyemas in children are extremely rare and potentially lethal intracranial infections. Delay in diagnosis and therapy is associated with increased morbidity and mortality. CASE DESCRIPTION: A 4-year-old boy presented with cerebellar signs following a failed treatment of otitis media. Imaging studies revealed a subdural empyema and left transverse and sigmoid sinus thrombosis. The empyema was evacuated operatively and antibiotic treatment was initiated and administered for 6 weeks. The patient recovered fully and was discharged 4 weeks following the evacuation of the empyema. CONCLUSION: While prompt identification and treatment of subdural infratentorial empyemas are crucial for favorable outcomes, their diagnosis in children might be initially missed. This is, in part because they are so rare and in part, because imaging artifacts arising from the complex posterior fossa anatomy may obscure their presence in the computer tomography (CT) scan. Therefore, high level of suspicion is necessary, given the appropriate history and clinical presentation. In children, this is a recent history of protracted otitis media and central nervous system symptomatology-cerebellar or other.

Primary Ewing sarcoma of the axis-C2: A case report and the review of the literature.

INTRODUCTION: Neck pain and torticollis are common symptoms in the pediatric population that rarely requires further investigation. However, in case symptoms persist, then a more meticulously approach should be considered. Underlying conditions such as infections, neck injury, autoimmune disorders or even cervical spine cancer should be excluded from diagnosis. Cervical spine cancer is a rare neurosurgical entity in the pediatric population and even rarer is atlantoaxial Ewing's sarcoma. In this report, we present a rare case of primary Ewing's sarcoma of the axis. CASE REPORT: A 3.5-year-old female with progressive neck pain and intermittent episodes of torticollis was referred to our outpatient clinic. Imaging studies revealed a malignant tumor located on C2 vertebra. Diagnosis of Ewing's Sarcoma was confirmed via open biopsy and the patient was treated with Euro-EWING 99 chemotherapy. CONCLUSION: Pediatric neck pain and/or torticollis should raise high suspicion for malignancy of cervical spine. Modern diagnostic means and techniques can assist in the screening and diagnosis of these tumors.

Oedema-fibrosis in Duchenne Muscular Dystrophy: Role of cardiovascular magnetic resonance imaging.

Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by progressive, irreversible loss of cardiac and skeletal muscular function. Muscular enlargement in DMD is attributed to oedema, due to the increased cytoplasmic Na+ concentration. The aim of this review was to present the current experience and emphasize the role of cardiovascular magnetic resonance (CMR) in the diagnosis of this condition. DMD patients' survival depends on ventilatory assistance, as respiratory muscle dysfunction was the most common cause of death in the past. Currently, due to improved ventilatory assistance, cardiomyopathy has become the main cause of death, even though clinically overt heart failure may be absent. CMR is the technique of choice to assess the pathophysiologic phenomena taking place in DMD, such as myocardial oedema and subepicardial fibrosis. The classic index to assess oedema is the T2-weighted short-tau inversion recovery (T2w-STIR), as it suppresses the signal from flowing blood and resident fat and enhances sensitivity to tissue fluid. Furthermore, CMR is the most reliable technique to detect and quantify fibrosis in DMD. Recently, the new indices T2, T1 mapping (native and postcontrast) and the extracellular volume (ECV) allow a more accurate approach of myocardial oedema and fibrosis. To conclude, the assessment of cardiac oedema and subepicardial fibrosis in the inferolateral wall of the left heart ventricle are the most important early finding in DMD with preserved ventricular function, and CMR, using both the classic and the new indices, is the best technique to detect and monitor these lesions.

Brain and heart magnetic resonance imaging/spectroscopy in duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by progressive and irreversible loss of muscular function. As muscular disease progresses, the repair mechanisms cannot compensate for cellular damage, leading inevitably to necrosis and progressive replacement by fibrous and fatty tissue. Cardiomyopathy and respiratory failure are the main causes of death in DMD. In addition to the well-described muscle and heart disease, cognitive dysfunction affects around 30% of DMD boys. Myocardial fibrosis, assessed by late gadolinium enhancement (LGE), using cardiovascular magnetic resonance imaging (CMR), is an early marker of heart involvement in both DMD patients and female carriers. In parallel, brain MRI identifies smaller total brain volume, smaller grey matter volume, lower white matter fractional anisotropy and higher white matter radial diffusivity in DMD patients. The in vivo brain evaluation of mdx mice, a surrogate animal model of DMD, showed an increased inorganic phosphate (P(i))/phosphocreatine (PCr) and pH. In this paper, we propose a holistic approach using techniques of magnetic resonance imaging, spectroscopy and diffusion tensor imaging as a tool to create a "heart and brain imaging map" in DMD patients that could potentially facilitate the patients' risk stratification and also future research studies in the field.

Central nervous system tumours among adolescents and young adults (15-39 years) in Southern and Eastern Europe: Registration improvements reveal higher incidence rates compared to the US.

AIM: To present incidence of central nervous system (CNS) tumours among adolescents and young adults (AYAs; 15-39 years) derived from registries of Southern and Eastern Europe (SEE) in comparison to the Surveillance, Epidemiology and End Results (SEER), US and explore changes due to etiological parameters or registration improvement via evaluating time trends. METHODS: Diagnoses of 11,438 incident malignant CNS tumours in AYAs (1990-2014) were retrieved from 14 collaborating SEE cancer registries and 13,573 from the publicly available SEER database (1990-2012). Age-adjusted incidence rates (AIRs) were calculated; Poisson and joinpoint regression analyses were performed for temporal trends. RESULTS: The overall AIR of malignant CNS tumours among AYAs was higher in SEE (28.1/million) compared to SEER (24.7/million). Astrocytomas comprised almost half of the cases in both regions, albeit the higher proportion of unspecified cases in SEE registries (30% versus 2.5% in SEER). Similar were the age and gender distributions across SEE and SEER with a male-to-female ratio of 1.3 and an overall increase of incidence by age. Increasing temporal trends in incidence were documented in four SEE registries (Greater Poland, Portugal North, Turkey-Izmir and Ukraine) versus an annual decrease in Croatia (-2.5%) and a rather stable rate in SEER (-0.3%). CONCLUSION: This first report on descriptive epidemiology of AYAs malignant CNS tumours in the SEE area shows higher incidence rates as compared to the United States of America and variable temporal trends that may be linked to registration improvements. Hence, it emphasises the need for optimisation of cancer registration processes, as to enable the in-depth evaluation of the observed patterns by disease subtype.

Treatment of Hepatic Hydatid Cyst in a 7-Year-Old Boy Using a New Type of Radiofrequency Ablation Electrode.

BACKGROUND Radiofrequency ablation has been established as a treatment method for malignancies and some particular cystic lesions, especially in adults. Experience with radiofrequency ablation in the treatment of hydatid cysts, especially in children, is limited. CASE REPORT Although echinococcosis is rare, especially in children, we describe a 7-year-old boy with lung and liver cystic echinococcosis. Diagnosis was established by clinical history and imaging findings and confirmed by positive antiechinococcal antibodies. After 6 months of chemotherapy with albendazole, the liver lesion remained and a radiofrequency ablation under computed tomography guidance was obtained. The procedure was performed with a new type of ablation electrode in order to minimize handling and procedure duration and to achieve the best clinical result in only 1 session. This type of electrode provides the ability to simultaneously drain and ablate the cyst and the ability to monitor the desired ablation temperature in real time. CONCLUSIONS Our patient is the first pediatric case with hepatic hydatid cyst treated successfully with the use of a new type of radiofrequency ablation electrode under computed tomography guidance.

Genotoxic effect of tocolytic drug ritodrine in combination with smoking during pregnancy.

OBJECTIVE: Tocolytic drugs are used widely in order to prevent preterm birth. Ritodrine, is the only food and drug administration (FDA) approved drug for tocolytic use. We estimated the cytogenetic effect of ritodrine administered as maternal therapy, alone or in combination with smoking, in women and their neonates. METHODS: Lymphocyte and fibroblasts cultures were evaluated and three indices were analyzed; sister chromatid exchanges (SCEs), proliferation rate index (PRI) and mitotic index (MI) as well as average generation time (AGT) and population doubling time (PDT). Campothacin (CPT-11) was used as a positive control. RESULTS: Administration of ritodrine up to a month revealed significant reduction of SCEs/cell in neonates in the presence or absence of the mutagenic agent. A statistical significant increase on SCEs, for mothers and neonates, was noticed in neonate's lymphocytes when tocolytic therapy was over a month. Ritodrine revealed a cytoprotective action against smoking when the two factors were combined, but the synergistic action of ritodrine with smoking increased genotoxicity, cytostaticity and cytotoxicity of neonates after long administration (1-3 months). CONCLUSIONS: The time-depended genotoxic, cytostatic and cytotoxic action of ritodrine alone or in combination with smoking suggests that its administration should not exceed the time period of a month.

Pediatric Masked Mastoiditis Associated with Multiple Intracranial Complications.

Masked mastoiditis is a distinct form of mastoiditis with little or no symptomatology, characterized by its potential to generate severe otogenic complications. Therefore, suspected masked mastoiditis should be diagnosed and treated without delay. This study reports a rare case of masked mastoiditis, manifested by multiple intracranial complications in an immunocompetent girl. The child exhibited headache and neurological symptomatology. Imaging studies revealed an epidural and a large cerebellar abscess and the patient was immediately treated with a triple antibiotic therapy. Mastoid surgery and drainage of the epidural abscess took place after the stabilization of the patient's neurologic status, on the 3rd hospitalization day. The cerebellar abscess was treated by craniectomy and ultrasound-guided needle aspiration in the 3rd week of hospitalization. The girl was finally discharged in excellent condition. Two years later, she is still in good health, without otological or neurological sequelae. Masked mastoiditis is an insidious disease which requires increased clinical awareness and adequate imaging. Should clinical and/or radiological findings be positive, mastoidectomy must follow in order to prevent severe otogenic complications that can be triggered by masked mastoiditis.

Successful management of cryopyrin-associated periodic syndrome with canakinumab in infancy.

Neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a rare, early-onset autoinflammatory disorder and the most severe form of cryopyrin-associated periodic syndrome, which is associated with overproduction of interleukin (IL)-1ß. This is a case report of a 70-day-old boy, who was diagnosed with NOMID/CINCA syndrome and who has been treated with anti-IL-1ß monoclonal antibody (canakinumab) since then, despite his early infancy. The patient presented with fever, aseptic meningitis, and rash. The clinical manifestations combined with the elevated acute-phase reactants strengthened the suspicion of the diagnosis of NOMID/CINCA syndrome. Specific immunologic workup revealed high levels of serum amyloid A and IL-6. The clinical diagnosis was confirmed by the detection of a de novo mutation of the CIAS1/NLR3 gene (p.Thr348Met), and canakinumab was started at a dose of 4 mg/kg, higher than the recommended dose for older age. White blood cell, serum amyloid A, C-reactive protein, and IL-6 levels quickly decreased and became normal within a month, and the clinical condition of the patient improved significantly. The infant remains without recurrence of disease or further complications and with satisfactory mental development with anti-IL-1ß monoclonal antibody treatment for >2 years. This report indicates the importance of early diagnosis of NOMID/CINCA syndrome and medication with IL-1 blockers as soon as possible for the improvement of the prognosis of cryopyrin-associated periodic syndrome and of a better patient outcome.

Effect of maternal smoking during pregnancy on fetus: a cytogenetic perspective.

OBJECTIVE: The examination of the genotoxic, cytostatic and cytotoxic effects of smoking during pregnancy. METHOD: Lymphocyte cultures of peripheral blood were received from 20 women who smoked during pregnancy as well as umbilical cord blood of their newborns. Fluorescence Plus Giemsa staining technique was used in order to perform cytogenetic analyses for three indices, Sister Chromatid Exchanges (SCEs), Proliferation Rate Index (PRI) and Mitotic Index (MI). To reveal any underlying chromosome instability, CPT-11 was used as a positive control. RESULTS: Newborns whose mothers smoke during pregnancy had increased SCEs levels on their lymphocytes when they were exposed to the mutagenic agent CPT-11 (p < 0.01) compared with newborns lymphocytes exposed to the same agent with non-smoking mothers. Also, mothers smoking during pregnancy had increased SCE levels when their lymphocytes were exposed to CPT-11 (p < 0.01) compared with non smoking mothers whose lymphocytes were exposed to the same agent. In both groups newborns appeared as having decreased (p < 0.01) spontaneous SCEs levels compared with the corresponding SCE rates of their mothers. Decreases of PRIs and MIs are observed in mothers compared to their newborns. CONCLUSION: Smoking during pregnancy can promote cytogenetic damage in newborn's DNA, causing chromosome instability. The clinical importance of this indirect damage lies in the fact that this type of damage can act synergistically with other environmental and/or chemical mutagenic substances possibly leading to carcinogenicity.

Cytogenetic evaluation of pre-pregnancy smoking in maternal and newborn lymphocytes.

OBJECTIVE: To study cytogenetic damage in order to estimate the effect of pre-pregnancy smoking on pregnant women and their foetuses. STUDY DESIGN: Lymphocyte cultures were obtained from peripheral blood of 20 women who quit smoking during pregnancy, and umbilical cord blood of their newborns at delivery. Cytogenetic analyses were performed for sister chromatid exchanges (SCEs), proliferation rate index (PRI) and mitotic index (MI) using the Fluorescence Plus Giemsa staining technique. Twenty non-smoking women and their newborns were evaluated as controls. CPT-11, a known antineoplastic, was used as a positive genotoxic agent in order to correlate non-smoking women with smoking women and reveal any underlying chromosome instability. Statistical evaluation of SCE frequencies, PRI and MI was based on independent samples t-test in order to estimate the effect of pre-pregnancy smoking on mothers and their newborns. RESULTS: SCEs were induced in the cord blood lymphocytes of newborns whose mothers smoked before pregnancy when they were exposed to the mutagenic agent CPT-11 (p<0.01). A similar increase in SCEs was observed in both non-smoking and smoking mothers exposed to CPT-11. Newborns in both groups had significantly lower SCE levels than their mothers (p<0.01). CONCLUSION: Pre-pregnancy smoking results in cytogenetic damage for both mothers and newborns, and is an important risk factor for cancer and/or other genetic-related diseases. Smoking cessation needs to occur well before conception in order to avoid the strong cytogenetic association between pre-pregnancy smoking by mothers and their newborns.

Fetal ovarian cysts. Our clinical experience over 16 cases and review of the literature.

OBJECTIVE: Fetal ovarian cysts are intra-abdominal structures frequently diagnosed prenatally, tending to present as isolated unilateral lesions in normal fetuses in the third trimester. These cysts may present with complications and their diameter and echogenicity are the main criteria for establishing their prognosis. Spontaneous regression of fetal ovarian cysts is very usual. In the present study, we present our clinical experience on fetal ovarian cyst surveillance and treatment, as well as a review of the literature in the same field. MATERIAL AND METHOD: In this study, we reviewed pre- and postnatal medical records and ultrasonography of 16 fetuses that were diagnosed with ovarian cysts, in Obstetrics Department of University Hospital of Alexandroupolis, between January 2000 and April 2010. We have also reviewed the available literature about fetal ovarian cysts. RESULTS: In a total of 16 cases, postnatal surgery was performed in one infant due to ovarian cyst torsion. In the remaining 15 cases, cysts regressed completely in two fetuses during pregnancy and all the rest of the cysts, including four complex ones, resolved spontaneously after birth. CONCLUSIONS: When fetal ovarian cysts are detected, they should be followed up by serial ultrasonographic examinations. The majority of them will regress spontaneously in a period of 12 months after birth, independent of their sonographic findings. Only symptomatic cysts or cysts with a diameter >5 cm, which do not regress or enlarge, should be treated.

Transvaginal aspiration of ovarian cysts: our experience over 121 cases.

We performed an evaluation of ultrasound-guided transvaginal aspiration of ovarian cysts as a viable alternative to surgery in 104 reproductive and 17 postmenopausal women. One-hundred and twenty-one patients with a simple >4 cm diameter ovarian cyst, with a benign appearance on ultrasound as well as on clinical and blood examination, underwent transvaginal fine needle aspiration of the cyst under ultrasonographic control. One-hundred and four patients were of reproductive age and 12 were postmenopausal. Sixty women who were of reproductive age and in which OCP treatment was not contraindicated followed a six-month therapy with oral contraceptives after the intervention. In the group of patients of reproductive age under OCP treatment the cyst persisted in nine of the 60 women (recurrence rate 15%). In the other group of patients of reproductive age,under no OCP treatment, the recurrence rate was 47% (21 of the 44 women). In the group of postmenopausal patients, the cyst persisted in ten out of 17 cases (recurrence rate 58,9%). Transvaginal aspiration of ovarian cysts is a reliable alternative to surgery with many advantages such as excellent tolerance, low risk and cost of complications and recurrence. The OCP treatment after aspiration seems to increase the success rate of expectant management.