Combined endonasal and neurosurgical resection of a congenital teratoma with pharyngeal, intracranial and orbital extension: Case report, surgical technique and review of the literature.

OBJECTIVES: This study reports a patient with a large teratoma involving the oropharynx, the nasopharynx and the left orbit, with intracranial extension. This case represents one of the first reported instances of such an association. A literature review reporting head and neck teratomas with intracranial involvement is also presented. CASE REPORT: The authors describe a case of a neonate presenting with a huge teratoma causing respiratory distress due to upper airway obstruction. The child was operated on at 3 months of age with a combined neurosurgical and endonasal endoscopic-assisted approach. After more than 1-year follow-up, the child has no recurrence and no complications of surgery. DISCUSSION: This type of teratoma is very rare and surgical morbidity is common. The diagnosis may be apparent before birth, which will facilitate the planning of respiratory management. The combined neurosurgical and otolaryngologic approach for a neonatal teratoma has not previously been described. Using an endoscopic-assisted approach for intranasal tumors removal in neonates and infants is a very rare surgical challenge. CONCLUSION: Large nasopharyngeal teratomas of infancy with sinonasal and intracranial extension may be managed using a combined endoscopic-assisted endonasal and neurosurgical procedure.

Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF(V600E) mutation and expression.

Pediatric cortical glioneuronal benign tumors mainly include gangliogliomas (GG) [differential diagnoses pilocytic astrocytomas (PA) and pleomorphic xanthoastrocytomas (PXA)] and dysembryoplastic neuroepithelial tumor (DNT). DNT include the specific form and the controversial non-specific form that lack the specific glioneuronal element. Our aims were to search for BRAF(V600E) mutation and CD34 expression in DNT, PXA, GG and PA to correlate BRAF(V600E) mutation with BRAF(V600E) expression and to evaluate their diagnostic and prognostic values. Ninety-six children were included. BRAF(V600E) mutation was studied by sequencing and immunohistochemistry; CD34 expression was analyzed by immunohistochemistry. BRAF(V600E) mutation was detected in PXA (60%), GG (38.7%), DNT (30%, including 3/11 specific and 3/9 non-specific forms) and PA (12.5%). BRAF(V600E) expression was recorded in PXA (60%), GG (45.2%) and DNT (30%). CD34 expression was recorded in PXA (60%), GG (58.1%), DNT (25%) and PA (12.5%). Neither CD34 expression nor BRAF(V600E) status was predictive of prognosis, except for PA tumors where CD34 expression was associated with a shorter overall survival. In conclusion, DNT shared with PXA and GG, BRAF(V600E) mutation and/or CD34 expression, which represent molecular markers for these tumors, and we recommend searching for CD34 expression and BRAF(V600E) mutation in all DNT, especially the non-specific forms.

Search for distinctive markers in DNT and cortical grade II glioma in children: same clinicopathological and molecular entities?

BACKGROUND: Dysembryoplastic Neuroepithelial Tumours (DNT) are benign brain lesions arising during childhood that are characterized by early onset partial seizures, no neurological deficit and cortical location. Pathological diagnosis is easy when the glioneuronal element is present. Its absence might lead to the diagnosis of non-specific DNT or low-grade glioma (LGG). OBJECTIVE: The aim of this retrospective study was to analyse clinicopathological and molecular features of a series of cortical tumours, in order to find diagnostic and prognostic markers to better custom treatment next. METHODS: Twenty four children with cortical neuroepithelial tumour were included. Clinical and radiological data were collected. Histological diagnosis was reviewed for all patients. 1p19q and p53 status were obtained by FISH and immunohistochemistry respectively. IDH1-2 gene mutations were assessed by DNA sequencing. CGH-array was performed in 6/24 samples. RESULTS: We recorded 13 DNT and 11 cortical LGG. Median age at surgery was 11.5 years. Overall survival was 100% and event-free survival at 10 years was 70%. No tumour displayed chromosomal alteration or 1p19q deletion or p53 expression. Only one patient with grade-II oligoastrocytoma had an IDH1 mutation. No statistical difference was found between the two populations in terms of age, sex, tumour location, type of surgical resection, disease progression and clinical status at last follow-up. Only the occurrence of septations on preoperative MRI was significantly associated with pathological features of DNT. CONCLUSION: Patients with DNT and cortical LGG share excellent outcome. Our genetic analysis could not distinguish DNT from LGG. In particular, CGH-array analysis was strictly normal in both tumor types. In attempt to find molecular markers, diagnosis of these lesions remains difficult when the glioneuronal element is lacking.

Solitary, extracutaneous, skull-based juvenile xanthogranuloma.

We report a case of an 18-month-old female who presented an occipital bone lesion with progressive growth. Imaging studies showed a left extradural, skull-based tumor partially occupying the posterior fossa. Histopathological and immunohistochemical studies confirmed a juvenile xanthogranuloma (JXG). Partial surgical resection, chemotherapy, and conformational radiotherapy were used. Exclusive extracutaneous JXG with an intracranial, vertebral, or skull-based localization is extremely rare.

Initial predictive factors of outcome in severe non-accidental head trauma in children.

OBJECT: The aim of this study is to evaluate the outcome of young children hospitalized for non-accidental head trauma in our PICU, to evaluate PRISM II score in this sub-population of pediatric trauma and to identify factors that might influence the short-term outcome. MATERIALS AND METHODS: Files of all children less than 2 years old with the diagnosis of non-accidental head trauma over a 10-years period were systematically reviewed. We collected data on demographic information, medical history, clinical status, and management in the PICU. Three severity scores were then calculated: PRISM II, Glasgow Coma Scale (GCS), and Pediatric Trauma Score (PTS). Prognosis value of qualitative variables was tested with a univariate procedure analysis (anemia, diabetes insipidus...). Then, quantitative variables were tested with univariate procedure too (age, weight, PRISM II, GCS, Platelet count, fibrin, prothrombin time (PT)...). Potential association between variables and death was tested using univariate procedure. Variables identified by univariate analysis were then analyzed with multivariate analysis through a forward-stepping logistic regression. RESULTS: Thirty-six children were included. Mean age was 5.5 months (8 days-21.5 months). Mortality rate was 27.8%. At admission, PTS, PRISM II, GCS, PT, PTT, and diabetes insipidus were significantly altered or more frequent in non survivors. Cutoff value for PRISM II at which risk of mortality increased was 17.5 (sensitivity = 0.8; specificity = 0.88). CONCLUSION: PRISM II is a reliable and easy performing tool for assessing the prognosis of non-accidental cranial traumatism in young children. GCS and PTS, scores even simpler than PRISM II, showed good accuracy regarding survival prediction.

Intradural dirofilariasis mimicking a Langerhans cell histiocytosis tumor.

We report the case of a 6-year-old female who presented a cervical intradural extra-spinal tumor, initially considered as a Langerhans cell histiocytosis. Additional histological slides revealed a Dirofilaria repens dirofilariasis. The particularity of this case is the intradural location of this filariasis, which usually has a subcutaneous or conjunctival location in human.

Cervical myelocystocele: prenatal diagnosis and therapeutical considerations.

BACKGROUND: Cervical myelocystocele (CMC) is a very rare congenital malformation and belongs to the spectrum of skin-covered (occult) dysraphisms. Only 15 cases have been so far reported throughout the literature. We report the first case of CMC whose diagnosis was established prenatally by ultrasound imaging (US) followed by fetal magnetic resonance imaging (MR). CASE HISTORY: A 35-year-old woman was referred for further investigations following prenatal assessment of a fetal cervical mass observed on routine US during pregnancy. Fetal karyotype was normal. Fetal MR confirmed the ultrasonographic findings and led us to strongly suspect the diagnosis of CMC. The newborn was operated on 2 months after birth. The goal of surgical procedure was to remove the malformation and to obtain an untethering of the spinal cord. Twelve months later, the child is still neurologically intact. DISCUSSION: We discuss embryogenesis, different subtypes, associated malformations, and surgical strategy associated with myelocystoceles. CONCLUSIONS: This case adds to the existing literature in that it shows for the first time antenatal images of this rare condition and discusses treatment and follow-up implications.

Surgical strategies and seizure control in pediatric patients with dysembryoplastic neuroepithelial tumors: a single-institution experience.

OBJECTIVES: Dysembryoplastic neuroepithelial tumors (DNTs) are commonly associated with medically resistant epilepsy that usually starts in childhood. Presurgical workup and surgical strategies remain controversial. The authors present a study of long-term seizure outcome after noninvasive presurgical investigations and different surgical strategies were used in a series of pediatric patients. METHODS: Twenty-four children who underwent operations at a single center between 1986 and 2006 were eligible for this retrospective study. The authors reviewed medical records including sex, age at seizure onset, age at surgery, seizure type and pharmacoresistance, lesion location, extent and complications of resection, histopathological findings, prescription of seizure and antiepileptic drugs, outcome, and tumor recurrence. RESULTS: At the last follow-up examination (range 1-16 years after initial treatment, mean 6.7 years) 20 children (83.3%) were seizure free. The authors did not find the rundown phenomenon in any of the patients. Complete antiepileptic drug withdrawal was achieved in 12 children (50%). In 4 of 15 children with temporal DNTs, the lesionectomy alone failed to control seizures. These results could be explained by the wider epileptogenic zone. The only significant predictor for favorable seizure outcome was an absence of preoperative generalized seizures. CONCLUSIONS: In children with extratemporal DNTs the results suggest that complete lesionectomy alone without invasive presurgical investigations are effective for long-term seizure control. For children with temporal DNTs not invading the amygdalohippocampal complex, extensive presurgical evaluations seem indicated. The absence of preoperative generalized seizures was associated with a better seizure outcome.

Brainstem epidermoid cyst in a child. Case report.

A 10-year-old girl presented with a brainstem epidermoid cyst manifesting as dysphagia and post-prandial vomiting. Magnetic resonance imaging disclosed a cystic mass in the brainstem with associated hydrocephalus. She was treated under a presumptive diagnosis of abscess until the definitive histological diagnosis was established at the fourth admission. In spite of four interventions, she remained in good condition with minimal cranial nerve pareses. Subtotal removal of the epidermoid cyst in the brainstem results in recurrence within a relatively short period, especially in children. Total resection of the tumor is the optimum treatment. The differential diagnosis includes abscess, cystic glioma, and neurenteric cyst.

Thalamic gliomas in children: an extensive clinical, neuroradiological and pathological study of 14 cases.

OBJECT: Thalamic tumors represent only 1 to 5% of brain neoplasms but frequently affect children. However, pediatric series are rare and go back to several years in spite of recent advances in the neuroradiological, pathological, and molecular fields. METHODS: We report a series of 14 pediatric thalamic gliomas with clinical, neuroradiological, and pathological studies including p53 immunostaining in 11 cases and 1p19q status in three cases. RESULTS: Our series included five pilocytic astrocytomas, seven oligodendrogliomas, and two glioblastomas. Pilocytic astrocytomas were characterized by strong contrast enhancement, lack of p53 expression, and excellent prognosis. Oligodendrogliomas frequently demonstrated an aspect of unilateral thalamic enlargement lacking or with slight contrast enhancement. Some of them expressed p53 or demonstrated 1p loss. Anaplastic oligodendrogliomas and glioblastomas displayed a poor outcome, with a mean survival of 8 months after surgery. CONCLUSION: Our series of pediatric thalamic gliomas clearly distinguishes pilocytic astrocytomas from anaplastic oligodendrogliomas regarding neuroimaging, pathology, and prognosis.

Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH.

BACKGROUND: Pleuropulmonary blastoma (PPB) is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour. CASES PRESENTATION: We report pathological and cytogenetic findings in two cases of PPB at initial diagnosis and recurrence. Both tumors were classified as type III pneumoblastoma and histological findings were similar at diagnosis and relapse. In both cases, conventional cytogenetic techniques revealed complex numerical and structural chromosomal abnormalities. Molecular cytogenetic analysis (interphase/metaphase FISH and multicolor FISH) identified accurately chromosomal aberrations. In one case, TP53 gene deletion was detected on metaphase FISH. To date, only few cytogenetic data have been published about PPB. CONCLUSION: The PPB genetic profile remains to be established and compared to others embryonal neoplasia. Our cytogenetic data are discussed reviewing cytogenetics PPBs published cases, illustrating the contribution of multicolor FISH in order to identify pathogenetically important recurrent aberrations in PPB.

Effectiveness and handling characteristics of a three-layer polymer dura substitute: a prospective multicenter clinical study.

OBJECT: The goal of this study was to assess the effectiveness and handling characteristics of a dura substitute composed of two outer layers of expanded polytetrafluoroethylene (PTFE) and a middle layer consisting of an elastomeric fluoropolymer. METHODS: In a prospective multicenter study, the dura substitute was implanted using a standard technique in 119 patients undergoing cranial or spinal surgery requiring duraplasty. Intraoperative assessments of the dura patch consisted of testing for cerebrospinal fluid (CSF) leakage employing the Valsalva maneuver and a surgeon's standard evaluation of the handling characteristics of the device. Postoperative assessments conducted during a mean follow-up time of 15.7 months (range 0.3-45.6 months) consisted of physical examinations, routine computed tomography (CT) or magnetic resonance (MR) imaging studies, and histological studies of any removed dura patches. The mean age of the 119 patients was 40 years (range < 1-81 years). The dura substitute was implanted cranially in 102 patients and spinally in 17. Intraoperative assessment including the Valsalva maneuver led to application of additional sutures in 17 patients. Handling features were rated very good to excellent. Postoperative clinical evaluation resulted in 79 excellent and 18 good results. Imaging studies (MR imaging studies in 69 patients and CT studies in 34 patients) showed no adhesions in 87 patients and minimal adhesions in seven patients (the dura was not visualized in nine patients). Postoperative complications occurred in 12 patients. There were six cases of CSF leakage, three cases of extradural hematoma, one case of arachnoid fibrosis after decompression of a Chiari malformation Type I, and two cases of infection. Eight (7%) of these complications were potentially related to the dura patch. CONCLUSIONS: In a large, multicenter clinical study of the use of an expanded-PTFE-containing dura substitute, the device was found to be easy to handle and implant. No serious dura patch-related intraoperative adverse events were observed. Postoperatively, there were no major sealing problems or long-term complications. In two cases the patch had to be removed due to fibrosis and infection. The three-layer polymer dura substitute appears to be safe and effective in minimizing CSF leakage and adhesion formation, and its use avoids any risk of prion disease transmission.

Craniopharyngioma in children: Marseille experience.

OBJECTIVES: The management of craniopharyngioma in children represents a challenging problem. If radical excision is recommended by many authors as the initial treatment, in some cases, particularly in recurrent tumours, other methods (gamma knife surgery and intracystic bleomycin) can be very useful. Even if craniopharyngioma is a benign tumour, recurrences are frequent, and the aim of our study was to analyse our results, to try to determine some prognostic factors of recurrences and to discuss about a new strategy concerning the initial management of these tumours. METHODS: Forty-seven children with craniopharyngioma were treated in the Department of Pediatric Neurosurgery. All of the patients, but five children treated by intracystic bleomycin, underwent a surgical resection of the tumour as initial treatment with the goal of achieving gross total removal (GTR) of the tumour. Two children had radiotherapy and gamma knife treatment, respectively, following surgery for a tumoural residue. All the children had a magnetic resonance imaging (MRI) study 3 months after surgery to evaluate the results of the initial treatment. Using statistical analysis, some prognostic factors (age, sex, location, aspect, size of the tumour and result of the first MRI) have been studied. RESULTS: Forty-two children were operated on, but one died in the immediate postoperative period from a major stroke due to carotid spasm. GTR, defined as the absence of residue on the first MRI control, was achieved in 27 children (65.8%), but 7 patients (25.9%) presented recurrence. Subtotal removal (STR) was obtained in 14 children (34.2%), but 9 patients (64.3%) developed a recurrence defined as the growth of the residual tumour with or without clinical symptoms. Five children having a small- or moderate-size cystic craniopharyngioma were treated using one-stage (three cases) or two-stage (two cases) intracystic bleomycin and any presented recurrence. All the prognostic factors studied, except one (presence of a residue on the first MRI control), do not have a statistical significance. CONCLUSION: Craniopharyngioma in children remains a formidable tumour, and regardless of whatever progress made in their management, the incidence of recurrences is still elevated and severe sequelae can be observed. There are no prognostic factors among those studied concerning the recurrences of these tumours except the quality of the exeresis confirmed by the first postoperative MRI.

Pilocytic astrocytomas in children: prognostic factors--a retrospective study of 80 cases.

OBJECTIVE: Pilocytic astrocytomas (PA) are Grade I brain tumors characterized by an excellent prognosis. In some cases, however, the patient has a bad outcome. The aim of our study was to search for the clinicopathological factors underlying the prognosis for patients with this disease. METHODS: We reviewed the clinical, neuroradiological, and histopathological features of 80 PAs (33 cerebellar, 18 optochiasmatic, 16 brainstem, 7 spinal cord, 3 thalamic, 2 optic nerve, and 1 hemispheric) in pediatric patients. RESULTS: Pathological examination revealed 58 classic PAs and 20 pilomyxoid astrocytomas, which are a histological variant of PAs. Two cases remained unclassified. The mean overall follow-up period was 58 months, the 5-year progression-free survival rate was 75%, and the 5-year survival rates were 100 and 92% after total and partial removal. Univariate statistical analysis revealed that partial resection, optochiasmatic PA localization, and pilomyxoid variant were associated with a worse prognosis, but the latter two parameters were too closely related to the extent of resection to be independent prognostic factors in multivariate analysis. Among the patients who underwent partial surgical removal, only invasion of the surrounding structures was related to prognosis. CONCLUSION: PAs are benign tumors, but some clinicopathological factors, such as partial resection, optochiasmatic location, invasion of surrounding structures, and the pilomyxoid variant, have a worse prognosis.

The usefulness of MR imaging in the diagnosis of dysembryoplastic neuroepithelial tumor in children: a study of 14 cases.

BACKGROUND AND PURPOSE: Dysembryoplastic neuroepithelial tumors (DNTs) are benign lesions affecting children and are associated with epilepsy. The goal of our study was to better characterize the clinical-radiologic-pathologic spectrum of DNTs (complex and simple forms only) in a series of 14 children. METHODS: Clinical, neuroradiologic, and pathologic features of all cases were retrospectively studied. RESULTS: Eleven cases of complex and three cases of simple DNTs were identified. Mean follow-up was 87 months, and no recurrence was recorded except for one case of simple DNT. We found that some neuroradiologic features may be helpful to support the diagnosis of DNT: presence of "septations," triangular pattern of distribution, and absence of contrast enhancement. CONCLUSION: The evidence of the specific glioneuronal element is found by pathologic examination, but the typical neuroradiologic aspect of DNT suggests this diagnosis preoperatively. Radiologic examination may be helpful for the diagnosis of DNT when pathologic findings are inconclusive.

Cavernomas intracranianos na infância: a propósito de 14 observaçöes e revisäo de 88 casos da literatura / Intracranial cavernomas in childhood: to purpose of 14 observations and review of 88 cases of the literature

Os autores apresentam 14 casos de angiomas cavernosos tratados no Serviço de Neurocirurgia Pediátrica do Hôpital des Enfants de La Timone, Marselha, França. Todos os pacientes foram operados e tiveram a confirmaçao anatomopatológica baseada nos critérios estabelecidos por Russel e Rubinstein(60,61).Os resultados foram comparados com 88 casos de angiomas cavernosos, no grupo pediátrico, coletados na literatura. No total de 102 casos, os autores puderam concluir que os angiomas constituem 17 por cento das malformaçoes vasculares cerebrais da infância. A localizaçao mais freqüente foi a frontal e o hemisfério direito o mais acometido. As formas familiares corresponderam a 6,8 por cento dos casos e 50 por cento destes pacientes apresentavam lesoes múltiplas. O tratamento dos cavernomas sintomáticos é cirúrgico, mesmo para as localizaçoes profundas.