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1.
Isr Med Assoc J ; 26(4): 236-239, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38616669

RESUMO

BACKGROUND: The cavum septi pellucidi (CSP) is a brain-enclosed cavity located on the midline between the two leaflets of the septum pellucidum that separates the lateral ventricles. This structure develops in the fetus from week 18 and can be seen up to week 37 in almost all cases and then begins to disappear. OBJECTIVES: To measure and determine the normative values of the CSP volume in fetuses between 20 to 40 weeks of gestation. METHODS: The study comprised 161 consecutive pregnant women between 20 to 40 weeks of gestation with single viable fetuses. All patients had normal, disease-free pregnancies. Transvaginal or transabdominal ultrasound was used according to the fetal presentation. The fetal head was assessed in mid-sagittal sections. Once the CSP was visualized, its volume was measured using three-dimensional ultrasound with Virtual Organ Computer-aided Analysis software. The width of the CSP was also measured at the biparietal diameter (BPD) plane. RESULTS: Of the 161 fetuses, the CSP volume was measured in 158. In three patients the CSP was not identified. The CSP volume correlated poorly with gestational age (r=0.229) and with the BPD (r=0.295). The mean CSP volume was 0.508 ± 0.372 ml (range: 0.03-1.78 ml). The simple measurement of the CSP width correlated better with gestational age (r=0.535) and the BPD (r=0.484). CONCLUSIONS: The CSP volume had a poor correlation with gestational age; however, the volume did not exceed 2 ml regardless of gestational age. This information can be used to assess pathologies involving the CSP.


Assuntos
Feto , Septo Pelúcido , Humanos , Feminino , Gravidez , Septo Pelúcido/diagnóstico por imagem , Idade Gestacional , Encéfalo
2.
Neurology ; 102(7): e209183, 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38489566

RESUMO

BACKGROUND AND OBJECTIVES: Cavum septum pellucidum (CSP) is a common but nonspecific MRI finding in individuals with prior head trauma. The type and extent of head trauma related to CSP, CSP features specific to head trauma, and the impact of brain atrophy on CSP are unknown. We evaluated CSP cross-sectionally and longitudinally in healthy and clinically impaired older adults who underwent detailed lifetime head trauma characterization. METHODS: This is an observational cohort study of University of California, San Francisco Memory and Aging Center participants (healthy controls [HCs], those with Alzheimer disease or related dementias [ADRDs], subset with traumatic encephalopathy syndrome [TES]). We characterized traumatic brain injury (TBI) and repetitive head impacts (RHI) through contact/collision sports. Study groups were no RHI/TBI, prior TBI only, prior RHI only, and prior RHI + TBI. We additionally looked within TBI (1, 2, or 3+) and RHI (1-4, 5-10, and 11+ years). All underwent baseline MRI, and 67% completed a second MRI (median follow-up = 5.4 years). CSP measures included grade (0-4) and length (millimeters). Groups were compared on likelihood of CSP (logistic regression, odds ratios [ORs]) and whether CSP length discriminated groups (area under the curve [AUC]). RESULTS: Our sample included 266 participants (N = 160 HCs, N = 106 with ADRD or TES; age 66.8 ± 8.2 years, 45.3% female). Overall, 123 (49.8%) participants had no RHI/TBI, 52 (21.1%) had TBI only, 41 (16.6%) had RHI only, 31 (12.6%) had RHI + TBI, and 20 were classified as those with TES (7.5%). Compared with no RHI/TBI, RHI + TBI (OR 3.11 [1.23-7.88]) and TES (OR 11.6 [2.46-54.8]) had greater odds of CSP. Approximately 5-10 years (OR 2.96 [1.13-7.77]) and 11+ years of RHI (OR 3.14 [1.06-9.31]) had higher odds of CSP. CSP length modestly discriminated participants with 5-10 years (AUC 0.63 [0.51-0.75]) and 11+ years of prior RHI (AUC 0.69 [0.55-0.84]) from no RHI/TBI (cut point = 6 mm). Strongest effects were noted in analyses of American football participation. Longitudinally, CSP grade was unchanged in 165 (91.7%), and length was unchanged in 171 (95.5%) participants. DISCUSSION: Among older adults with and without neurodegenerative disease, risk of CSP is driven more by duration (years) of RHI, especially American football, than number of TBI. CSP length (≥6 mm) is relatively specific to individuals who have had substantial prior RHI. Neurodegenerative disease and progressive atrophy do not clearly influence development or worsening of CSP.


Assuntos
Doença de Alzheimer , Lesões Encefálicas Traumáticas , Traumatismos Craniocerebrais , Futebol Americano , Doenças Neurodegenerativas , Humanos , Feminino , Idoso , Pessoa de Meia-Idade , Masculino , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/patologia , Doenças Neurodegenerativas/patologia , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/patologia , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/diagnóstico por imagem , Lesões Encefálicas Traumáticas/patologia , Atrofia/patologia
3.
Rev. chil. obstet. ginecol. (En línea) ; 88(6): 351-358, dic. 2023. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1530033

RESUMO

Objetivo: Reportar el resultado a largo plazo de una serie de fetos con agenesia del septum pellucidum aislada (ASP), con medición de su quiasma óptico mediante neurosonografía fetal (NSG). Método: Se incluyeron todas las pacientes con ASP y NSG evaluadas desde el año 2008 a la fecha y con seguimiento hasta su edad escolar. En todos los casos se consignaron los datos clínicos de NSG y de resonancia magnética (RM), cuando esta se realizó. Se entrevistó telefónicamente a los padres. Resultados: Nueve pacientes cumplieron los criterios: cuatro con displasia septo-óptica (DSO) (rango de seguimiento: 5-14 años) y cinco sin DSO (rango de seguimiento: 7-10 años). Un décimo caso se excluyó por tener solo 6 meses de seguimiento. Ninguna de las ASP tuvo otra anomalía detectada en su seguimiento. Ninguno de los casos con DSO tuvo alteración del tamaño de su quiasma óptico en la NSG ni anormalidad en la vía óptica en la RM. Conclusiones: En nuestra población, el riesgo residual de DSO frente a ASP es del 44,4%. En el seguimiento, nuestra definición de ASP por NSG no tuvo falsos negativos con relación a otras anomalías de aparición posnatal, a excepción de la DSO.


Objective: To report the long-term outcome of a series of fetuses with isolated septum pellucidum agenesis (ASP) with measurement of their optic chiasm by fetal neurosonography (NSG). Method: All patients with ASP and NSG evaluated from 2008 to date and with follow-up until their school age were included. In all cases, clinical, NSG and magnetic resonance imaging (MRI) data were recorded. Parents were interviewed by telephone. Results: Nine patients met the criteria: four with septo-optic dysplasia (SOD) (follow-up range: 5-14 years) and five without SOD (follow-up range: 7-10 years). A tenth case was excluded because only 6 months of follow-up. None of the ASP cases had another anomaly detected in their follow-up. None of the cases with DSO had anomaly of the size of their optic chiasm on NSG or abnormality in the optical pathway in the MRI. Conclusions: In our population, the residual risk of DSO versus ASP is 44.4%. At follow-up, our NSG definition of ASP had no false negatives in relation to other postnatal-onset anomalies, except for SOD.


Assuntos
Gravidez , Diagnóstico Pré-Natal , Displasia Septo-Óptica/patologia , Displasia Septo-Óptica/diagnóstico por imagem , Septo Pelúcido/patologia , Septo Pelúcido/diagnóstico por imagem , Resultado da Gravidez , Doenças Fetais
5.
Medicine (Baltimore) ; 102(46): e35954, 2023 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-37986283

RESUMO

RATIONALE: Non-Hodgkin lymphoma affecting the brain, eyes, and cerebrospinal fluid without systemic spread is known as primary central nervous system lymphoma (PCNSL). While intracerebroventricular PCNSL is commonly found in the lateral ventricles and the third and fourth ventricles, the occurrence of PCNSL originating from the septum pellucidum is extremely rare. PATIENT CONCERNS: Two patients presented with recent memory loss and high cranial pressure. DIAGNOSES: Magnetic resonance imaging revealed a clear enhancing lesion in the septum pellucidum region. Pathological examination confirmed that both cases were primary large B-cell lymphoma GCB (germinal center B-cell-like) subtypes located in an "immune-privileged" area. INTERVENTIONS: Both patients underwent total tumor resection, and the procedures were successfully completed without surgical complications. OUTCOMES: Over a 1-year period, treatment included four cycles of high-dose methotrexate combined with temozolomide. During the follow-up period (19-23 months), no recurrence of the lymphoma was observed. LESSONS: In cases of PCNSL in the septum pellucidum, it is crucial to consider it as a potential differential diagnosis for intraventricular tumors. Surgical interventions should focus on maximizing tumor resection while ensuring the protection of critical structures like the fornix and peripheral neural components. The role of surgery compared to biopsy, as well as the long-term complications, necessitates extended follow-up. Additionally, an individualized treatment approach, considering factors such as age, Karnofsky performance score, and organ function assessment, can lead to positive outcomes.


Assuntos
Neoplasias do Sistema Nervoso Central , Neoplasias do Ventrículo Cerebral , Linfoma Difuso de Grandes Células B , Linfoma não Hodgkin , Humanos , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/cirurgia , Septo Pelúcido/patologia , Linfoma não Hodgkin/diagnóstico , Linfoma Difuso de Grandes Células B/diagnóstico por imagem , Linfoma Difuso de Grandes Células B/cirurgia , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/cirurgia
6.
Rev Bras Ginecol Obstet ; 45(9): e511-e516, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37846183

RESUMO

OBJECTIVE: The aim of the present study is to compare the cavum septum pellucidi (CSP) z-score in euploid and aneuploid fetuses and to investigate the performance of the CSP width/length and CSP width/biparietal diameter (BPD) ratios as a diagnostic marker in aneuploidy. METHODS: A total of 54 patients, 20 aneuploid and 35 euploid fetuses, between 18 and 37 weeks of gestation, were included in this retrospective study. The CSP width z-score was compared between the two groups. Receiver operating characteristic (ROC) curves were calculated for the CSP width/length and CSP width/BPD ratios to predict aneuploidy. RESULTS: The median CSP width was 4.8 mm (range, 1.8 to 8.5 mm) in the euploid group, and 5.4 mm (range 3.1 to 8.4 mm) in the aneuploid group. Cavum septum pellucidi width z-score, CSP width/length ratio, and CSP width/BPD ratio were significantly higher in fetuses with aneuploidy than in fetuses with normal karyotype (p = 0.001; p = 0.013; p = 0.028). In the ROC analysis, the CSP width/length ratio had the optimal cutoff value of 0.59, with 72.0% sensitivity and 58.0% specificity, and for the CSP width/BPD ratio, the cutoff value was 0.081 with 83.0% sensitivity and 61.0% specificity for detection of aneuploidy. CONCLUSION: CSP width z-score was found to be increased in aneuploid fetuses. The CSP width /BPD ratio can be used as a new marker for predicting aneuploidy.


OBJETIVO: O objetivo do presente estudo é comparar o escore z do cavum septum pellucidi (CSP) em fetos euploides e aneuploides e investigar o desempenho das relações largura/comprimento do CSP e largura do CSP/diâmetro biparietal (BPD) como marcador diagnóstico de aneuploidia. como marcador de diagnóstico de aneuploidia. MéTODOS:: Um total de 54 pacientes, 20 fetos aneuploides e 35 fetos euploides, entre 18 e 37 semanas de gestação, foram incluídos neste estudo retrospectivo. O escore z da largura da CSP foi comparado entre os dois grupos. As curvas ROC (Receiver Operating Characteristic) foram calculadas para as relações largura/comprimento da PEC e largura da PEC/BPD para prever a aneuploidia. RESULTADOS: A largura mediana da CSP foi de 4,8 mm (variação de 1,8 a 8,5 mm) no grupo euploide e de 5,4 mm (variação de 3,1 a 8,4 mm) no grupo aneuploide. O escore z da largura do cavum septum pellucidi, a relação largura/comprimento do CSP e a relação largura do CSP/BPD foram significativamente maiores em fetos com aneuploidia do que em fetos com cariótipo normal (p < 0,001; p < 0,013; p < 0,028). Na análise ROC, a relação largura/comprimento da CSP teve o valor de corte ideal de 0,59, com 72,0% de sensibilidade e 58,0% de especificidade, e para a relação largura da CSP/BPD, o valor de corte foi de 0,081, com 83,0% de sensibilidade e 61,0% de especificidade para a detecção de aneuploidia. CONCLUSãO:: Verificou-se que o escore z da largura da CSP estava aumentado em fetos aneuploides. A relação A relação largura da CSP /BPD pode ser usada como um novo marcador para prever a aneuploidia.


Assuntos
Septo Pelúcido , Ultrassonografia Pré-Natal , Feminino , Humanos , Gravidez , Aneuploidia , Feto/diagnóstico por imagem , Estudos Retrospectivos , Septo Pelúcido/diagnóstico por imagem
8.
J Clin Ultrasound ; 51(9): 1466-1471, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37548058

RESUMO

OBJECTIVE: Develop charts for cavum septum pellucidi (CSP) following a standardized methodology and using quantile regression. The secondary objective was to assess the influence of fetal gender on the generated reference curves. METHODS: In a cross-sectional prospective study 453 low-risk singleton pregnancies were evaluated at a gestational age interval between 18 and 34 weeks. The width of CSP were measured on ultrasound images using a standardized technique and their changes were evaluated by quantile regression as a function of gestational age (GA) interval or head circumference (HC). Differences between sex were evaluated. RESULTS: The measurement of CSP significantly increased with gestation and HC. Linear models better described the changes of CSP with GA and HC. The fits of CSP width with GA and HC were not significantly different. Male fetuses showed significantly higher CSP width when compared to female fetuses (u = 2.973; p = 0.005). CONCLUSIONS: We generated prospective nomograms of fetal CSP development using quantile regression and following a strict standardized methodology. These new charts may be useful to better identify abnormal cases at higher risk of associated anomalies. Further our findings underline the potential effect of gender in developing fetal brain.


Assuntos
Septo Pelúcido , Ultrassonografia Pré-Natal , Gravidez , Feminino , Masculino , Humanos , Lactente , Estudos Prospectivos , Estudos Transversais , Ultrassonografia Pré-Natal/métodos , Cefalometria , Idade Gestacional , Septo Pelúcido/diagnóstico por imagem
9.
J Matern Fetal Neonatal Med ; 36(2): 2232075, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37414745

RESUMO

OBJECTIVE: The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The presence of an obliterated cavum septi pellucidi (oCSP) in the prenatal period is poorly described in the literature but, nevertheless, it constitutes an important clinical dilemma for the fetal medicine specialist in terms of significance and prognosis. Moreover, its occurrence is increasing maybe because of the widespread of high-resolution ultrasound machine. The aim of this work is to review the available literature regarding the oCSP along with the description of a case-report of oCSP with an unexpected outcome. METHODS: A search of the literature through Pubmed was performed up to December 2022 with the aim to identify all cases of oCSP previously described, using as keywords "cavum septi pellucidi," "abnormal cavum septi pellucidi," "fetus," and "septum pellucidum." Along with the narrative review, we describe a case-report of oCSP. RESULTS: A 39 years old woman was diagnosed with a nuchal translucency between the 95° and 99° centile in the first trimester and an oCSP and "hookshaped" gallbladder at 20 weeks. Left polymicrogyria was found at fetal magnetic resonance imaging (MRI). Standard karyotype and chromosomal microarray analysis (CMA) were normal. After birth, the newborn presented signs of severe acidosis, untreatable seizures and multiorgan failure leading to death. A targeted gene analysis of the epilepsy panel revealed the presence of a de novo pathogenic variant involving the PTEN gene. The literature review identified four articles reporting on the oCSP of which three were case report and one was a case-series. The reported rate of associated cerebral findings is around 20% and the rate of adverse neurological outcome is around 6%, which is higher than the background risk of the general population. CONCLUSIONS: This case-report and review of the literature shows that oCSP is a clinical entity poorly described so far and that, despite the generally good prognosis, it requires caution in counseling. The diagnostic work-up should include neurosonography while fetal MRI may be always indicated for non-isolated cases only, depending on local facilities. Targeted gene analysis or whole exome sequencing may be indicated for non-isolated cases.


Assuntos
Epilepsia , Septo Pelúcido , Gravidez , Recém-Nascido , Feminino , Humanos , Adulto , Septo Pelúcido/diagnóstico por imagem , Encéfalo , Feto , Cuidado Pré-Natal , Imageamento por Ressonância Magnética
10.
J Ultrasound Med ; 42(12): 2725-2737, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37490581

RESUMO

OBJECTIVE: To construct reference ranges of the fetal cerebral anterior complex, including ventricular index (VI), anterior horn of lateral ventricle width (AW), and cavum septi pellucidi (CSP) width, as a function of gestational age (GA), in Thai fetuses. METHODS: Low-risk pregnancies were recruited to measure fetal anterior complex on axial transventricular and coronal transcaudate planes using transabdominal ultrasound. The downside and upside hemisphere were defined as cerebral hemisphere located distal and proximal to the transducer, respectively. The five variables, downside/upside VI, downside/upside AW and CSP width, were measured from each fetus. Best-fit models in predicting mean and standard deviation for each value as a function of GA were constructed, using regression analysis. Distributions of Z-scores of all values based on GA were created to evaluate the fitness of models. Intraclass correlation coefficients were used to assess inter-/intraobserver variability. RESULTS: A total of 395 fetuses were measured for anterior complex. All parameters changed with GA with quadratic function. The models for predicting means and standard deviation of the five parameters as well as percentile charts were created. All models were proven well-fitted. The intra-/interobserver reliability coefficients of all values showed excellent agreement. CONCLUSION: The reference ranges of the fetal anterior complex, including VI, AW, and CSP, in axial transventricular and coronal transcaudate planes have been established and available for clinical use.


Assuntos
Feto , Cuidado Pré-Natal , Gravidez , Feminino , Humanos , Reprodutibilidade dos Testes , Feto/diagnóstico por imagem , Idade Gestacional , Septo Pelúcido/diagnóstico por imagem , Valores de Referência , Ultrassonografia Pré-Natal
11.
J Neurovirol ; 29(3): 346-349, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37212976

RESUMO

There is limited literature regarding meningitis associated with HHV-7. This article reports an immunocompetent adolescent girl who developed fever, headache, and meningism which CSF molecular analysis with PCR was positive only for HHV-7. Interestingly, persistent cavum septum pellucidum and cavum vergae were observed on brain magnetic resonance imaging. The patient received antibiotics, dexamethasone, and acyclovir and then she gained full recovery. HHV-7 is a rare and yet possible pathogen in patients with meningitis, and this is the first described case report from Iran.


Assuntos
Herpesvirus Humano 7 , Meningite , Feminino , Humanos , Adolescente , Irã (Geográfico) , Herpesvirus Humano 7/genética , Meningite/patologia , Septo Pelúcido/patologia , Encéfalo/diagnóstico por imagem
12.
Br J Radiol ; 96(1151): 20221058, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37194993

RESUMO

The septum pellucidum is a largely neglected anatomical midline structure during post-natal neuroimaging interpretation. Conversely, it is one of the anatomical landmarks used on pre-natal ultrasound to access normal midline formation. Because of its importance during the pre-natal period, the awareness of its primary malformative abnormalities is much higher than its disruptive acquired pathologies, often leading the misinterpretation. In this article, we will review the normal septum pellucidum formation, anatomy, and anatomical variants and will describe the imaging findings in primary malformative and secondary disruptive abnormalities affecting the septum pellucidum.


Assuntos
Imageamento por Ressonância Magnética , Septo Pelúcido , Humanos , Septo Pelúcido/anatomia & histologia , Septo Pelúcido/patologia , Ultrassonografia
13.
Br J Radiol ; 96(1147): 20221042, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36930694

RESUMO

ADVANCES IN KNOWLEDGE: A systematic approach by the radiologist to analysis of imaging and other clinical data in the fetus with absent septal leaflets suspected on ultrasound will improve diagnostic efficiency, accuracy, and pre-natal counselling.


Assuntos
Feto , Septo Pelúcido , Humanos , Feminino , Gravidez , Septo Pelúcido/diagnóstico por imagem , Ultrassonografia , Segundo Trimestre da Gravidez , Ultrassonografia Pré-Natal/métodos , Imageamento por Ressonância Magnética
14.
J Pediatr Health Care ; 37(3): 311-314, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36925347

RESUMO

Neonatal abstinence syndrome (NAS) involves a widely variable treatment course among affected individuals. Prognostic indicators that would help predict length of hospital stay and individualize treatment would be valuable to newborns, parents, and hospital staff, including advanced practice registered nurses. We describe a newborn with a prolonged NAS treatment course necessitating high doses of opioids and phenobarbital, found to have an isolated absent septum pellucidum (ASP). We hypothesize a mechanism for an association between an ASP and a difficult NAS treatment course. Should this be substantiated by other cases, it could provide a valuable prognosticator and indicate alternate treatment pathways.


Assuntos
Síndrome de Abstinência Neonatal , Humanos , Recém-Nascido , Síndrome de Abstinência Neonatal/tratamento farmacológico , Septo Pelúcido/diagnóstico por imagem , Estudos Retrospectivos , Analgésicos Opioides/uso terapêutico , Tempo de Internação
15.
Artigo em Inglês | MEDLINE | ID: mdl-36901603

RESUMO

The aim of the study was to evaluate factors that may contribute to the persistence of positive, negative and other psychopathological symptoms of schizophrenia. All patients were treated in general psychiatric wards between January 2006 and December 2017. The initial study sample comprised of the medical reports of 600 patients. The main, specified inclusion criterion for the study was schizophrenia as a discharge diagnosis. Medical reports of 262 patients were excluded from the study due to no neuroimaging scans being available. The symptoms were categorised into three groups: positive, negative, and other psychopathological symptoms. The statistical analysis comprised modalities such as demographic data, clinical symptoms, as well as neuroimaging scans linking them to a potential impact of sustaining the mentioned groups of symptoms during the period of hospitalization. The analysis revealed that statistically significant risk factors of persistence of the three groups of symptoms are the elderly age, the increasing toll of hospitalizations, suicidal attempts in medical history, a family history of alcohol abuse, the presence of positive, negative and other psychopathological symptoms on admission to the hospital, as well as the absence of cavum septi pellucidi (CSP). The study showed that addiction to psychotropic drugs and a family history of schizophrenia were more frequent in patients with persistent CSP.


Assuntos
Alcoolismo , Esquizofrenia , Humanos , Idoso , Esquizofrenia/diagnóstico , Imageamento por Ressonância Magnética , Septo Pelúcido/patologia , Hospitalização
16.
Neoplasia ; 37: 100885, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36764090

RESUMO

BACKGROUND: Myxoid glioneuronal tumor (MGT) is a benign glioneuronal neoplasm recently introduced in the World Health Organization (WHO) classification of the central nervous system (CNS) tumors. MGTs are typically located in the septum pellucidum, foramen of Monro or periventricular white matter of the lateral ventricle. They were previously diagnosed as dysembryoplastic neuroepithelial tumors (DNT), showing histological features almost indistinguishable from classical cortical DNT. Despite that, MGTs have been associated with a specific dinucleotide substitution at codon 385 in the platelet-derived growth factor receptor alpha (PDGFRA) gene, replacing a lysine residue with either leucine or isoleucine (p. LysK385Leu/Iso). This genetic variation has never been described in any other CNS tumor. MATERIALS AND METHODS: Thirty-one consecutive tumors, previously diagnosed as DNTs at the Meyer Children's Hospital IRCCS between January 2010 and June 2021 were collected for a comprehensive study of their clinical, imaging, pathological features, and molecular profile. RESULTS: In six out of the thirty-one tumors we had previously diagnosed as DNTs, we identified the recurrent dinucleotide mutation in the PDGFRA. All six tumors were typically located within the periventricular white matter of the lateral ventricle and in the septum pellucidum. We then renamed these lesions as MGT, according to the latest WHO CNS classification. In all patients we observed an indolent clinical course, without recurrence. CONCLUSION: MGT represent a rare but distinct group of neoplasm with a typical molecular profiling, a characteristic localization, and a relative indolent clinical course.


Assuntos
Neoplasias Encefálicas , Criança , Humanos , Neoplasias Encefálicas/patologia , Imageamento por Ressonância Magnética , Septo Pelúcido/patologia , Mutação , Receptores Proteína Tirosina Quinases/genética , Progressão da Doença
17.
Prenat Diagn ; 43(6): 763-772, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36670513

RESUMO

OBJECTIVE: To describe the prenatal ultrasound (US) findings, genetic results, and clinical outcomes of fetuses with suspected agenesis of the septum pellucidum (ASP) in the Chinese population. METHODS: This retrospective, single-center study included a cohort of fetuses with ASP diagnosed by prenatal imaging over a 10-year period. We evaluated US findings, associated anomalies, genetic results, and clinical outcomes. Prenatal and postnatal imaging findings were compared as well as the clinical outcome of delivery. RESULTS: Ninety patients were included, with a median follow-up time of 36 months (1-96 months). Thirty-six fetuses (40%) with isolated ASP were diagnosed by prenatal US or magnetic resonance imaging (MRI); 39 cases (43.3%) had ASP with central nervous system malformations and 15 cases (16.6%) had ASP with non-CNS abnormalities. Additional imaging findings were supplemented with prenatal MRI in 13 cases. Genetic tests were performed on 32 patients, of whom six had abnormalities. Prenatal US results of 40 patients (40/70) diagnosed by referral hospitals did not correspond to our findings. Of the 38 patients with postnatal records, 11 had abnormal neurological development. CONCLUSION(S): The outcome of an isolated ASP is usually favorable; however, neurological developmental delay is commonly observed if it is combined with other malformations.


Assuntos
Malformações do Sistema Nervoso , Ultrassonografia Pré-Natal , Gravidez , Feminino , Humanos , Ultrassonografia Pré-Natal/métodos , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/anormalidades , Estudos Retrospectivos , Relevância Clínica , Feto/anormalidades , Malformações do Sistema Nervoso/diagnóstico por imagem , Ultrassonografia , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos
18.
Ultraschall Med ; 44(1): e72-e82, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35213924

RESUMO

OBJECTIVES: To show the development of the third ventricle, commissural plate, future cavum septi pellucidi, and cavum veli interpositi in weeks 12-14 by transvaginal 3D ultrasound. METHODS: This is a prospective transvaginal 3D study carried out to define the third ventricle and the diencephalic midline structures surrounding it. 93 of 387 fetuses in which the commissural plate with the future cavum septi pellucidi, cavum veli interpositi, and the roof of the third ventricle could be well visualized, were selected with the choroid plexus of the third ventricle and the pituitary gland serving as leading structures. In a small number of fetuses, the optic chiasm could also be displayed. In addition, the following measurements were performed: third ventricle craniocaudal and anteroposterior, roof of the third ventricle/cavum veli interpositi, and fcsp. RESULTS: The sonomorphologic characteristics of the commissural plate, the future cavum septi pellucidi, and the cavum veli interpositi are described IN 9% OF THE FETUSES examined. Measurements of the third ventricle, cavum veli interpositi, and the roof of the third ventricle show the following results: 3rd V cc = 3.895 + 0.091*CRL mm; 3rd V ap = 4.175 + 0.036*CRL mm; CVI ap = 2.223 + 0.029*CRL mm; CVI cc = 0.139 + 0.02*CRL mm. CONCLUSION: Transvaginal neurosonography enables visualization and measurement of the normal fetal third ventricle at 12-14 weeks of gestation including visualization of the future cavum septi pellucidi and the cavum veli interpositi. BEFORE USE IN PATIENTS CAN BE CONSIDERED, FURTHER SCIENTIFIC WORK IS REQUIRED.


Assuntos
Terceiro Ventrículo , Humanos , Gravidez , Feminino , Estudos Prospectivos , Septo Pelúcido/diagnóstico por imagem , Ultrassonografia , Ultrassonografia Pré-Natal
19.
J Neurol Surg A Cent Eur Neurosurg ; 84(6): 606-609, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35062033

RESUMO

Spontaneous regression of cysts of the cavum septi pellucidi (CSP) and cavum vergae (CV) is rare and little discussed. The authors present their case report of this phenomenon following a severe headache in a 23-year-old woman, in whom magnetic resonance imaging (MRI) had previously confirmed significant thinning of the left lateral cyst wall. We consider this finding to be a possible predisposing factor to rupture and the spontaneous regression of such cysts. In addition to the mechanism of cyst regression, the interrelated causes of their expansion and formation will be discussed.


Assuntos
Cistos , Septo Pelúcido , Feminino , Humanos , Adulto Jovem , Adulto , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/cirurgia , Septo Pelúcido/patologia , Cistos/diagnóstico por imagem , Cistos/cirurgia , Imageamento por Ressonância Magnética
20.
Br J Neurosurg ; 37(5): 1319-1321, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33410364

RESUMO

Occlusion of foramen of Monro is an uncommon clinical entity that usually presents in children. Common causes are obstructing mass, infectious etiologies or vascular malformation. Rarely, it may be an idiopathic stricture or membrane. We report a case of idiopathic membranous obstruction of the foramen of Monro in a 45-year-old male with no past medical or surgical history. He presented with new intermittent dull and burning bifrontal severe headache for 2 d, which was alleviated slightly by non-steroidal anti-inflammatory medication. Imaging showed marked dilation of the lateral ventricles with normal third and fourth ventricles. The patient was discharged initially with conservative medical management and close follows up; however, the headache continued to progress and neurosurgical intervention was offered. The patient underwent endoscopic exploration, fenestration of the septum pellucidum, and right ventriculoperitoneal shunt placement. Bilateral membranous obstruction of foramina of Monro and an auto-fenestrated cavum septum pellucidum were identified intraoperatively. The patient reported resolution of headache post-operatively without recurrence on 1-month follow up. This case is unusual in that the patient presented without any known neurologic history or prior intracranial infections. It became apparent at the time of surgery that chronic obstruction of the bilateral foramina with collapse of the third ventricle had developed, and the safest durable treatment for him was septostomy and cerebrospinal fluid (CSF) shunt placement.


Assuntos
Ventrículos Cerebrais , Hidrocefalia , Humanos , Adulto , Masculino , Criança , Pessoa de Meia-Idade , Ventrículos Cerebrais/diagnóstico por imagem , Ventrículos Cerebrais/cirurgia , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Derivação Ventriculoperitoneal/efeitos adversos , Septo Pelúcido/cirurgia , Quarto Ventrículo/cirurgia , Cefaleia/cirurgia , Imageamento por Ressonância Magnética
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