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Pediatric spinal low-grade glioma (LGG) and glioneuronal tumours are rare, accounting for less 2.8-5.2% of pediatric LGG. New tumour types frequently found in spinal location such as diffuse leptomeningeal glioneuronal tumours (DLGNT) have been added to the World Health Organization (WHO) classification of tumours of the central nervous system since 2016, but their distinction from others gliomas and particularly from pilocytic astrocytoma (PA) are poorly defined. Most large studies on this subject were published before the era of the molecular diagnosis and did not address the differential diagnosis between PAs and DLGNTs in this peculiar location. Our study retrospectively examined a cohort of 28 children with LGGs and glioneuronal intramedullary tumours using detailed radiological, clinico-pathological and molecular analysis. 25% of spinal PAs were reclassified as DLGNTs. PA and DLGNT are nearly indistinguishable in histopathology or neuroradiology. 83% of spinal DLGNTs presented first without leptomeningeal contrast enhancement. Unsupervised t-distributed stochastic neighbor embedding (t-SNE) analysis of DNA methylation profiles showed that spinal PAs formed a unique methylation cluster distinct from reference midline and posterior fossa PAs, whereas spinal DLGNTs clustered with reference DLGNT cohort. FGFR1 alterations were found in 36% of spinal tumours and were restricted to PAs. Spinal PAs affected significantly younger patients (median age 2 years old) than DLGNTs (median age 8.2 years old). Progression-free survival was similar among the two groups. In this location, histopathology and radiology are of limited interest, but molecular data (methyloma, 1p and FGFR1 status) represent important tools differentiating these two mitogen-activated protein kinase (MAPK) altered tumour types, PA and DLGNT. Thus, these molecular alterations should systematically be explored in this type of tumour in a spinal location.
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Astrocitoma , Neoplasias Encefálicas , Neoplasias do Sistema Nervoso Central , Glioma , Humanos , Criança , Pré-Escolar , Estudos Retrospectivos , Astrocitoma/patologia , Neoplasias do Sistema Nervoso Central/genética , Glioma/genética , Epigênese Genética , Neoplasias Encefálicas/genéticaRESUMO
BACKGROUND: Craniopharyngioma is a rare condition in children, but it is the most frequent tumor that occurs in the hypothalamic pituitary region. Chemical meningitis has been described as an uncommon postoperative complication, but no chemical meningitis due to a spontaneous rupture leading to craniopharyngioma diagnosis in children has been reported. CASE PRESENTATION: This is a case of a 13-year-old boy presenting with fever, vomiting and headache for two days. The CT scan revealed a suprasellar lesion, and lumbar puncture showed aseptic meningitis. The cerebral MRI suggested a craniopharyngioma and the cerebrospinal fluid cholesterol concentration was abnormally high. A thorough medical history indicated some visual disturbance, which improved at the onset of meningitis, and an inflection of the growth curve. The anatomopathological analysis of the tumor confirmed the diagnosis of craniopharyngioma. CONCLUSIONS: This case is the first to report the discovery of a craniopharyngioma with meningoencephalitis caused by the rupture of a craniopharyngioma cyst in a child. Diagnosis was facilitated by determining the cholesterol level in the cerebrospinal fluid, as well as fine anamnesis to identify visual and growth disturbances.
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Craniofaringioma , Meningite , Meningoencefalite , Neoplasias Hipofisárias , Masculino , Humanos , Criança , Adolescente , Craniofaringioma/diagnóstico , Craniofaringioma/diagnóstico por imagem , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/diagnóstico por imagem , Meningoencefalite/complicações , ColesterolRESUMO
Head injury is the most common cause of child traumatology. However, there exist no treatment guidelines in children having intracranial lesions due to minor or moderate head trauma. There is little knowledge about monitoring, clinical exacerbation risk factors, or optimal duration of hospitalization. The aim of this retrospective study is to find predictive factors in the clinical course of non-severe head trauma in children, and thus to determine an optimal management strategy. Poor clinical progress was observed in only 4 out of 113 children. When there are no clinical signs and no eating disorders, an earlier discharge is entirely appropriate. Nevertheless, persistent clinical symptoms including headache, vomiting, and late onset seizure, especially in conjunction with hemodynamic disorders such as bradycardia, present a risk of emergency neurosurgery or neurological deterioration. Special attention should be paid to extradural hematoma (EDH) of more than 10 mm, which can have the most severe consequences. Clinical aggravation does not necessarily correlate with a change in follow-up imaging. Conversely, an apparent increase in the brain lesion on the scan is not consistently linked to a pejorative outcome.
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Traumatismos Craniocerebrais/diagnóstico , Progressão da Doença , Avaliação de Resultados em Cuidados de Saúde , Convulsões/diagnóstico , Vômito/diagnóstico , Hemorragia Cerebral Traumática/diagnóstico , Hemorragia Cerebral Traumática/etiologia , Hemorragia Cerebral Traumática/terapia , Criança , Pré-Escolar , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/diagnóstico por imagem , Traumatismos Craniocerebrais/terapia , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Convulsões/etiologia , Convulsões/terapia , Índice de Gravidade de Doença , Vômito/etiologia , Vômito/terapiaRESUMO
A 21-day-old male infant was admitted with signs of intracranial hypertension. Brain magnetic resonance imaging (MRI) revealed a voluminous mass in the posterior fossa with an intense peripheral enhancement on T1 images with gadolinium. The child was treated secondarily by surgical decompression of the posterior fossa and the lesion was biopsied. The pathological findings indicated infantile hemangioma. Treatment with oral prednisolone was initiated at 3 months, given the lack of tumor involution. Six months after corticotherapy was stopped, repeated MRIs indicated a significant reduction in tumor size and then complete disappearance. Psychometric evaluation was performed at the age of 15 years, showing heterogeneous cognitive disabilities, with verbal abilities superior to nonverbal abilities and delayed motor development. Neurological examination was normal with no focal deficit. To our knowledge, this is the first published case reporting the long-term evolution of a patient with neonatal intracerebral hemangioma. We conclude that psychometric evaluations should be part of the long-term follow-up of children who have had an intracranial capillary hemangioma.
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Hemangioma Capilar/tratamento farmacológico , Hemangioma Capilar/cirurgia , Neoplasias Infratentoriais/tratamento farmacológico , Neoplasias Infratentoriais/cirurgia , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/efeitos dos fármacos , Encéfalo/cirurgia , Seguimentos , Hemangioma Capilar/diagnóstico por imagem , Hemangioma Capilar/psicologia , Humanos , Recém-Nascido , Neoplasias Infratentoriais/diagnóstico por imagem , Neoplasias Infratentoriais/psicologia , Masculino , Resultado do TratamentoRESUMO
The aim of this study was to better define the clinical and biopathological features of patients with desmoplastic/nodular medulloblastoma (DNMB) and to further characterize this subgroup. 17 children aged < 5 years, with initial DNMB treated according to the HIT-SKK protocol, were evaluated. A retrospective central radiological review, a pathological and immunohistochemical study, and array-CGH and sequencing of germline SUFU and PTCH1 genes were performed. 15 histologically reviewed cases were confirmed as DNMB including three cases of medulloblastoma with extensive nodularity. Median age at diagnosis was 26 months. Radiology showed five cases with a vermis location and one with T2 hyperintensity. All cases showed a SHH immunoprofile. A 9q deletion was found in 6 cases, a MYCN-MYCL amplification in 1 case, and a SUFU germline mutation in 1 case (/9). The presence of SUFU and PTCH1 germline mutations agreed with previous reports. At 3 years, progression-free survival and overallsurvival rates were 72 ± 15% and 85 ± 10%, respectively. The rate of recurrence was relatively high (4 patients). This may have been because chemotherapy was delayed in two cases. Age > 3 years, and residual tumor may also have been an explanation for recurrence.
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Neoplasias Cerebelares/patologia , Meduloblastoma/genética , Meduloblastoma/patologia , Biomarcadores Tumorais/análise , Neoplasias Cerebelares/genética , Neoplasias Cerebelares/mortalidade , Pré-Escolar , Feminino , Humanos , Imuno-Histoquímica , Lactente , Estimativa de Kaplan-Meier , Masculino , Meduloblastoma/mortalidade , Mutação , Estudos RetrospectivosRESUMO
PURPOSE: To analyze the disc hydration and volumetric changes of the intervertebral disc after scoliosis surgery depending on the sagittal spino-pelvic organization. METHODS: We conducted a prospective MRI study in 45 patients with surgically treated adolescent idiopathic scoliosis (AIS) with a minimum 2-year follow-up. Fusion ended at L1 (n = 13), L2 (n = 14), L3 (n = 11) or L4 (n = 7). Total disc (Vd) and nucleus volumes (Vn) were extrapolated from 3D reconstruction using a custom-made image processing software (Biomechlab, Toulouse, France). Nucleus and external disc contours were semi-automatically detected on turbo spin echo T2-weighted sequence joined 3-mm sagittal cuts. Disc hydration was extrapolated from the nucleus-disc volume ratio (Vn/Vd). Radiographic sagittal parameters were measured pre- and post-operatively on full spine standing views (pelvic incidence, sacral slope, L1S1 lumbar lordosis). Lumbo-pelvic congruity was calculated by the ratio LL/SS according to Stagnara. RESULTS: Mean PI of the cohort was 55° (34°-85°). After surgical correction, lumbar lordosis was slightly increased by 3° (p = 0.02) decreasing lumbo-pelvic congruity from 1.37 to 1.27 (p < 0.01). When pelvic incidence was less than 55° (mean PI 46°), nucleus volumes have increased on average by 30 % compared to the preoperative status in the unfused lumbar discs, while the total disc volumes has remained stable. Five-year follow-up (n = 13) confirmed the constant improvement of the disc hydration ratio. When PI was high (mean PI 64°), volumetric changes were very mild and significant changes in nucleus volumes and disc hydration ratio concerned only the intermediate lumbar levels (L2L3, L3L4 and L4L5). CONCLUSIONS: This prospective MRI study showed a significant and sustainable improvement in T2 hypersignal of the disc, indirectly indicating improvement of disc hydration content after AIS surgery. Analysis of disc volumetric changes according to the pelvic incidence suggests that these changes are under the influence of the sagittal spino-pelvic alignment. PI seems to play a key role in the homeostasis of the discs under fusion and should be taken into account for preoperative planning. The restoration of the lumbo-pelvic congruence may help to limit early degenerative changes in the free-motion segment discs after AIS surgery. Hydration content was less sensitive to surgery when PI was high, suggesting higher shear stress in the lower discs. Longer follow-up is required to confirm this hypothesis.
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Água Corporal/fisiologia , Disco Intervertebral/anatomia & histologia , Disco Intervertebral/fisiologia , Imageamento por Ressonância Magnética , Escoliose/cirurgia , Adolescente , Feminino , Seguimentos , Humanos , Lordose/patologia , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
BACKGROUND AND PURPOSE: Ependymoma is the third most frequent childhood braintumor. Standard treatment is surgery followed by radiation therapy including proton therapy (PBT). Retrospective studies have reported higher rates of brainstem injury after PBT than after photon therapy (XRT). We report a national multicenter study of the incidence of brainstem injury after XRT versus PBT, and their correlations with dosimetric data. MATERIAL AND METHODS: We included all patients aged < 25 years who were treated with PBT or XRT for intracranial ependymoma at five French pediatric oncology reference centers between 2007 and 2020. We reviewed pre-irradiation MRI, follow-up MRIs over the 12 months post-treatment and clinical data. RESULTS: Of the 83 patients, 42 were treated with PBT, 37 with XRT, and 4 with both (median dose: 59.4 Gy, range: 5360). No new or progressive symptomatic brainstem injury was found. Four patients presented asymptomatic radiographic changes (punctiform brainstem enhancement and FLAIR hypersignal), with median onset at 3.5 months (range: 3.09.4) after radiation therapy, and median offset at 7.6 months (range: 3.77.9). Two had been treated with PBT, one with XRT, and one with mixed XRT-PBT. Prescribed doses were 59.4, 55.8, 59.4 and 54 Gy. CONCLUSION: Asymptomatic radiographic changes occurred in 4.8% of patients with ependymoma in a large national series. There was no correlation with dose or technique. No symptomatic brainstem injury was identified.
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Neoplasias Encefálicas , Tronco Encefálico , Ependimoma , Terapia com Prótons , Humanos , Ependimoma/radioterapia , Ependimoma/diagnóstico por imagem , Terapia com Prótons/efeitos adversos , Estudos Retrospectivos , Feminino , Masculino , Criança , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/diagnóstico por imagem , Adolescente , Pré-Escolar , Tronco Encefálico/efeitos da radiação , Tronco Encefálico/diagnóstico por imagem , Adulto Jovem , França , Fótons/uso terapêutico , Fótons/efeitos adversos , Lesões por Radiação/etiologia , Imageamento por Ressonância Magnética , Lactente , Dosagem RadioterapêuticaRESUMO
PURPOSE: Memory is one of the main specific cognitive domains impaired with attention and processing speed after a pediatric brain tumor. This work explored the long-term impact of radiotherapy in children with posterior fossa tumor (PFT) on brain connectivity in neural circuits involved in memory using resting-state functional magnetic resonance imaging (rs-fMRI). METHODS: A total of 20 irradiated and 15 non-irradiated PFT survivors, and 21 healthy controls, prospectively included in the IMPALA study (NCT04324450), performed memory tests assessing episodic, procedural, and working memories and were subjected to an rs-fMRI. We manually contoured main structures involved in memory to explore connectivity at rest in a seed-to-voxel analysis. The groups were compared and differences in connectivity were correlated with behavioral scores and irradiation doses. RESULTS: The performance of all mnesic tasks was lower in PFT survivors with a greater alteration in working and episodic memory in irradiated patients. Irradiated survivors had atypical connectivities in all memory circuits compared to controls and in cortico-caudate and cortico-cerebellar circuits compared to non-irradiated survivors. Non-irradiated survivors had only atypical connectivities in the cortico-cerebellar circuits compared to controls. In irradiated survivors, atypical connectivities in cortico-hippocampal circuits were linked with episodic memory scores and dose of irradiation to the left hippocampus and in cortico-striatal circuits with procedural memory scores and dose of irradiation to the striatum. CONCLUSION: The results of this study highlight that irradiation has a long-term impact on brain connectivity in brain circuits involved in memory after pediatric PFT with a specific radiation-dose effect in supratentorial structures.
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Neoplasias Encefálicas , Neoplasias Infratentoriais , Criança , Humanos , Atenção , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/patologia , Neoplasias Infratentoriais/diagnóstico por imagem , Neoplasias Infratentoriais/radioterapia , Neoplasias Infratentoriais/patologia , Imageamento por Ressonância Magnética , Memória de Curto Prazo , Estudos Prospectivos , Estudos de Casos e ControlesRESUMO
Introduction: Antenatal presentation of hypertrophic cardiomyopathy (HCM) is rare. We describe familial recurrence of antenatal HCM associated with intrauterine growth restriction and the diagnostic process undertaken. Methods: Two pregnancies with antenatal HCM were followed up. Biological assessment including metabolic analyses, genetic analyses, and respiratory chain study was performed. We describe the clinical course of these two pregnancies, antenatal manifestations as well as specific histopathological findings, and review the literature. Results: The assessment revealed a deficiency in complex I of the respiratory chain and two likely pathogenic variations in the ACAD9 gene. Discussion and Conclusion: Antenatal HCM is rare and a diagnosis is not always made. In pregnancies presenting with cardiomyopathy and intrauterine growth restriction, ACAD9 deficiency should be considered as one of the potential underlying diagnoses, and ACAD9 molecular testing should be included among other prenatal investigations.
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AIM: This study aimed to report a rare clinical course of pandemic influenza A(H1N1) infection, ischemic stroke, in a 9 month-old child. CASE: A 9-month-old girl with no previous medical problem presented to our pediatric emergency department with high fever (39°C/102°F) lasting for 48 hours. Soon after admission, she started generalized tonic-clonic seizures that ceased after 2 injections of diazepam. Six hours later, she presented 2 short episodes of partial clonic seizures of the right arm followed by monoplegia. Lumbar puncture was normal. Noncontrast computed tomographic imaging of the brain was performed and revealed an acute infarct in the left middle cerebral artery territory with no mass effect. Electroencephalogram revealed important slowing in the left hemisphere. A magnetic resonance imaging was performed the next day and confirmed an ischemic stroke in the left posterior middle cerebral artery region. Nasal swab polymerase chain reaction was positive for influenza A(H1N1) and polymerase chain reaction detection negative in cerebrospinal fluid. She fully recovered her right-arm function on day 3 and was discharged on day 10 without sequelae. COMMENTS: Seasonal influenza is known to cause neurological complications in children. Influenza increases the stroke risk especially in adults at high risk. This is a rare event in childhood, and we believe this is the first report associated with H1N1 new variant. CONCLUSIONS: Acute viral infection, notably influenza, is associated with increased susceptibility to stroke, and vaccination against influenza may reduce the risk of stroke.
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Isquemia Encefálica/etiologia , DNA Viral/análise , Vírus da Influenza A Subtipo H1N1/genética , Influenza Humana/complicações , Isquemia Encefálica/diagnóstico , Diagnóstico Diferencial , Eletroencefalografia , Feminino , Seguimentos , Humanos , Lactente , Influenza Humana/virologia , Imageamento por Ressonância Magnética , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND: Posterior fossa tumors represent two thirds of brain tumors in children. Although progress in treatment has improved survival rates over the past few years, long-term memory impairments in survivors are frequent and have an impact on academic achievement. The hippocampi, cerebellum and cerebellar-cortical networks play a role in several memory systems. They are affected not only by the location of the tumor itself and its surgical removal, but also by the supratentorial effects of complementary treatments, particularly radiotherapy. The IMPALA study will investigate the impact of irradiation doses on brain structures involved in memory, especially the hippocampi and cerebellum. METHODS/DESIGN: In this single-center prospective behavioral and neuro-imaging study, 90 participants will be enrolled in three groups. The first two groups will include patients who underwent surgery for a posterior fossa brain tumor in childhood, who are considered to be cured, and who completed treatment at least 5 years earlier, either with radiotherapy (aggressive brain tumor; Group 1) or without (low-grade brain tumor; Group 2). Group 3 will include control participants matched with Group 1 for age, sex, and handedness. All participants will perform an extensive battery of neuropsychological tests, including an assessment of the main memory systems, and undergo multimodal 3 T MRI. The irradiation dose to the different brain structures involved in memory will be collected from the initial radiotherapy dosimetry. DISCUSSION: This study will provide long-term neuropsychological data about four different memory systems (working memory, episodic memory, semantic memory, and procedural memory) and the cognitive functions (attention, language, executive functions) that can interfere with them, in order to better characterize memory deficits among the survivors of brain tumors. We will investigate the correlations between neuropsychological and neuroimaging data on the structural (3DT1), microstructural (DTI), functional (rs-fMRI), vascular (ASL) and metabolic (spectroscopy) impact of the tumor and irradiation dose. This study will thus inform the setting of dose constraints to spare regions linked to the development of cognitive and memory functions. TRIAL REGISTRATION: ClinicalTrials.gov: NCT04324450, registered March 27, 2020, updated January 25th, 2021. Retrospectively registered, https://www.clinicaltrials.gov/ct2/show/NCT04324450.
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Background: BRCC3/MTCP1 deletions are associated with a rare familial moyamoya angiopathy with extracranial manifestations. Case: We report the case of an adolescent male presenting with progressive and symptomatic moyamoya angiopathy and severe dilated cardiomyopathy caused by a hemizygous deletion of BRCC3/MTCP1. He was treated for renovascular hypertension by left kidney homograft and right nephrectomy in infancy and had other syndromic features, including cryptorchidism, growth hormone deficiency, and facial dysmorphism. Due to worsening of the neurological and cardiac condition, he was treated by a direct superficial temporal artery to middle cerebral artery bypass to enable successful cardiac transplant without cerebral damage. Conclusions: BRCC3-related moyamoya is a devastating disease with severe heart and brain complications. This case shows that aggressive management with cerebral revascularization to allow cardiac transplant is feasible and efficient despite end-stage heart failure.
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To report our preliminary experience with cerebral fetal magnetic resonance imaging (MRI) with a 3 Tesla (3T) scanner. We assessed feasibility, time of acquisition, and possibility to establish a diagnosis.Fifty-nine pregnant women had fetal MRI performed during the third trimester of pregnancy due to clinical or sonography concern of a central nervous system anomaly. No fetal or maternal sedation was used. The MRI protocol consisted of T2 turbo-spin-echo images in 3 planes of space. No T1-weighted images were performed. All images were analyzed by 2 pediatric neuroradiologists, who evaluated spatial resolution, artifacts, time of acquisition, and possibility to establish a diagnosis suspected by sonography.Examinations were performed safely for all patients. The images required longer time of acquisition (approximately 75âseconds for each plane in the space). The specific absorption rate was not exceeded in any fetus. Cerebral fetal MRI was normal in 22 cases. The spectrum of diagnostics included isolated ventriculomegaly, posterior fossa malformation, corpus callosum malformation, gyration anomalies, craniosynostosis, tuberous sclerosis, microcephaly, external hydrocephaly, midline arachnoid cyst, cerebral lesions, and persistent hyperplastic primitive vitreous.In our series, 3âT MRI of fetal brain was feasible and able to establish a diagnosis but required longer time of acquisition.
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Encéfalo/diagnóstico por imagem , Doenças Fetais/diagnóstico , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/instrumentação , Diagnóstico Pré-Natal/métodos , Feminino , Doenças Fetais/diagnóstico por imagem , Idade Gestacional , Humanos , Gravidez , Terceiro Trimestre da GravidezRESUMO
BACKGROUND AND PURPOSE: Ependymoma is the third most common brain tumor in children. Radiation therapy (RT) is systematically administered after maximum surgical resection, utilizing recent advances in radiation delivery. Imaging can make a significant contribution to improving treatment outcome. This prompted us to look for significant preoperative and postoperative imaging markers for survival. MATERIAL AND METHODS: We undertook a national retrospective review of 121 patients who had undergone resection followed by RT. Preoperative tumor volumes on T1 and FLAIR images were delineated, together with postoperative hyperintense volumes on FLAIR images. Overall survival (OS) and disease-free survival (DFS) analyses included clinical data and volumes extracted from images. RESULTS: After a median follow-up of 38.5â¯months, 80.2% of patients were alive, but 39.7% had experienced at least one event. Statistically significant differences between patients with and without postoperative FLAIR abnormalities were found for both DFS (71.9% vs. 40.3%; pâ¯=â¯0.006) and OS (93.7% vs. 72.4%; pâ¯=â¯0.023) in the univariate analyses, and for OS (pâ¯=â¯0.049) in the multivariate analyses. CONCLUSIONS: Postoperative FLAIR hyperintensities are a negative prognostic factor for intracranial ependymoma and may be a surrogate for residual disease. They could therefore prove helpful in patients' surgical and radiotherapeutic management.
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Neoplasias Encefálicas/radioterapia , Ependimoma/radioterapia , Adolescente , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Criança , Pré-Escolar , Intervalo Livre de Doença , Ependimoma/diagnóstico por imagem , Ependimoma/patologia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Análise Multivariada , Neoplasia Residual/diagnóstico por imagem , Período Pós-Operatório , Prognóstico , Radioterapia Adjuvante , Estudos Retrospectivos , Resultado do Tratamento , Carga Tumoral , Adulto JovemRESUMO
PURPOSE: The objective of this study was to analyze survival and prognostic factors for children, adolescents, and young adults treated with postoperative radiation therapy (RT) for intracranial ependymoma. METHODS AND MATERIALS: Between 2000 and 2013, 202 patients aged ≤25 years were treated in the 13 main French pediatric RT reference centers. Their medical records were reviewed for information, treatments received, and survival rates. All children had received postoperative RT- conformal, intensity modulated, or proton beam. In 2009, the prescribed standard dose in France rose from 54 Gy to 59.4 Gy. RESULTS: Median follow-up was 53.8 months (95% confidence interval [CI] 47-63.5). Median age at RT was 5 years (range 1-22), and 32% of the children treated were aged <3 years. Regarding treatment, 85.6% of patients underwent gross total resection, 62% of patients received conformal RT (vs 29% for intensity modulated RT and 8% for proton beam RT), 62.4% of patients received a dose >54 Gy, and 71% received chemotherapy. Of the 84 relapses, 75% were local. The cumulative incidence of local relapse was 24.4% (95% CI 18.2-31.2) at 3 years and 31.3% (95% CI 24-38.9) at 5 years. The 5-year disease-free survival (DFS) and overall survival rates were 50.4% (95% CI 42.2-58) and 71.4% (95% CI 63.1-78.2). Tumor grade was the only prognostic factor for local relapse and DFS. Tumor grade, age, and extent of resection were independent prognostic factors for overall survival. CONCLUSIONS: We confirmed several clinical and tumoral prognostic factors in a large French multicenter study. DFS for intracranial ependymoma remains low, and new biological and imaging markers are needed to distinguish among different subtypes, adapt treatments, and improve survival.
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Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/radioterapia , Ependimoma/diagnóstico , Ependimoma/radioterapia , Adolescente , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Humanos , Lactente , Masculino , Prognóstico , Dosagem Radioterapêutica , Adulto JovemAssuntos
Neoplasias Encefálicas , Neoplasias do Sistema Nervoso Central , Glioma , Neoplasias Meníngeas , Neoplasias Neuroepiteliomatosas , Neoplasias Encefálicas/diagnóstico por imagem , Glioma/diagnóstico , Humanos , Neoplasias Meníngeas/diagnóstico , Neoplasias Neuroepiteliomatosas/diagnóstico por imagemRESUMO
OBJECTIVE: To assess the relative cerebral blood volume (rCBV) and apparent diffusion coefficient (ADC) derived, respectively, from perfusion and diffusion pre-operative MRI of intracranial ependymomas and their predictive and prognostic values. METHODS: Pre-operative MRI and clinical data for intracranial ependymomas diagnosed between January 2000 and December 2013 were retrospectively retrieved from a web-based national database. MRI data included diffusion (62 patients) and perfusion (20 patients) MRI. Patient age, histopathological diagnosis, tumour location, ADC, relative ADC (rADC) and rCBV were considered as potential factors in a survival analysis. Survival rates were estimated using the Kaplan-Meier method. Univariate analyses were performed using the log-rank test to compare groups. We also performed a multivariate analysis, applying the Cox proportional hazards model. RESULTS: ADC and rADC values within hypointense regions differed significantly between grades II and III (p = 0.01). The 75th percentile of ADC within hypointense regions and the 25th percentile of rCBV within non-enhancing lesions were prognostic of disease-free survival (p = 0.004, p = 0.05). A significant correlation was found between the 75th percentile of rCBV and the 25th percentile of rADC (p = 0.01) in enhancing regions of grade-III tumours. CONCLUSION: Pre-operative rADC and rCBV could be used as prognostic factors for clinical outcome and to predict histological grade in paediatric ependymomas. ADVANCES IN KNOWLEDGE: Prognostic value of diffusion and perfusion MRI in paediatric ependymoma was found and may play a role in the prognostic classification of patients in order to design more tailored treatment strategies.
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Neoplasias Encefálicas/diagnóstico por imagem , Ependimoma/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Volume Sanguíneo , Criança , Pré-Escolar , Imagem de Difusão por Ressonância Magnética , Feminino , França , Humanos , Lactente , Masculino , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Taxa de SobrevidaRESUMO
The aim of the study was to implement a methodology to quantify in vivo and from magnetic resonance imaging (MRI) the 3D geometrical properties of intervertebral discs (IVDs) in early idiopathic scoliosis with small curves. MRI data were posttreated using a custom-made image processing software to semiautomatically determine the location of disc centres, the location of the nucleus pulposus (NP) and the ratio between the NP volume and the disc volume. MRI was performed in a clinical protocol involving 14 patients having an early idiopathic scoliosis. First, the 3D reconstruction errors were quantified using a reproducibility test (intraoperator and interoperator) in one IVD (L5-S1). The maximal errors in location were 0.79 mm in the frontal plane, 1.84 mm in the sagittal plane and 0.76 mm in the vertical plane. The maximal error in relative volume was 42%. Second, the nucleus migration and relative volume were quantified in discs T5-T6 to L5-S1. No significant relative volume variation was detected. Concerning the disc migration, no significant differences were found in the sagittal and axial planes. In the frontal plane, significant differences were observed at the apex of the scoliotic curvature when the Cobb angle was > or =20 degrees . This innovative study in early scoliosis showed reproducible preliminary results, and its application to improve diagnosis and follow-up will be established in an enlarged patient database.
Assuntos
Disco Intervertebral/patologia , Imageamento por Ressonância Magnética/métodos , Escoliose/patologia , Adolescente , Análise de Variância , Criança , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imageamento Tridimensional , Masculino , Reprodutibilidade dos TestesRESUMO
BACKGROUND: Patients with pituitary stalk interruption syndrome (PSIS) are initially referred for hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is either isolated (nonsyndromic) or associated with extra-pituitary malformations (syndromic). OBJECTIVE: To compare baseline characteristics and long-term evolution in patients with PSIS according to the initial presentation. STUDY DESIGN: Sixty-seven patients with PSIS were included. Data from subgroups were compared: neonates (n = 10) versus growth retardation patients (n = 47), and syndromic (n = 32) versus nonsyndromic patients (n = 35). RESULTS: Neonates displayed a more severe hormonal and radiological phenotype than children referred for growth retardation, with a higher incidence of multiple hormonal deficiencies (100% versus 34%; P = 0.0005) and a nonvisible anterior pituitary lobe (33% versus 2%; P = 0.0017). Regular follow-up of growth might have allowed earlier diagnosis in the children with growth retardation, as decreased growth velocity and growth retardation were present respectively 3 and 2 years before referral. We documented a progressive worsening of endocrine impairment throughout childhood in these patients. Presence of extra-pituitary malformations (found in 48%) was not associated with more severe hormonal and radiological characteristics. Growth under GH treatment was similar in the patient groups and did not vary according to the pituitary MRI findings. CONCLUSIONS: PSIS diagnosed in the neonatal period has a particularly severe hormonal and radiological phenotype. The progressive worsening of endocrine impairment throughout childhood justifies periodic follow-up to check for additional hormonal deficiencies.