Utilidad del complejo posterior para el diagnóstico prenatal de sintelencefalia / Utility of the posterior complex for the prenatal diagnosis of syntelencephaly

Introducción y objetivo: Demostrar el valor del plano axial del complejo posterior, como apoyo a la detección antenatal de sintelencefalia, variante de holoprosencefalia. Método: Se incluyeron todas las pacientes con diagnóstico de sintelencefalia evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de neurosonografía (NSG), de resonancia magnética (RM) y genética. Resultados: Cuatro casos fueron diagnosticados en el segundo trimestre y en todos se realizó estudio genético y RM. Tres tuvieron en su evolución anomalías extra-SNC y dos de ellos alteraciones cromosómicas, una de ellas incompatible con la vida extrauterina. Lo hallazgos descritos en neuroimagen para esta afección fueron detectados en la NSG, con una excelente correlación con RM, ya fuera esta última realizada en periodo fetal o posnatal. Conclusión: El diagnóstico prenatal de variantes de holoprosencefalia es difícil, considerando la existencia de una fusión medial más acotada que en las formas clásicas. El presente estudio demuestra la utilidad del plano del complejo posterior para la sospecha diagnóstica de sintelencefalia.

Introduction and objective: To demonstrate the value of the axial plane of the posterior complex, as a clue for the antenatal detection of synthelencephaly, a variant of holoprosencephaly. Method: All patients diagnosed with syntelencephaly evaluated since 2008 were included. In all cases, clinical, neurosonography (NSG), magnetic resonance imaging (MRI) and genetic data were recorded. Results: Four cases were diagnosed in the second trimester and in all of them a genetic study and MRI were performed. Three had extra-CNS anomalies in their evolution and two of them chromosomal anomalies, one of them incompatible with extrauterine life. Neuroimaging findings described for this condition were detected by NSG, with an excellent correlation with MRI, whether the latter was performed in the fetal or postnatal period. Conclusion: The prenatal diagnosis of holoprosencephaly variants is difficult, considering the existence of a more limited medial fusion than in the classical forms. The present study demonstrates the usefulness of the posterior complex plane for the diagnostic suspicion of synthelencephaly.

Resultado a largo plazo de una serie de fetos con agenesia aislada del septum pellucidum / Long-term postnatal outcome of fetuses with isolated agenesis of the septum pellucidum

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.

Comparison of Cavum Septum Pellucidum Size in Euploid and Aneuploid Fetuses.

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.

The importance of staged surgery for giant atypical central neurocytoma.

The aim of this article is to discuss the importance of staged surgeries when approaching atypical central neurocytoma in children. Also, we show the preoperative embolization of the lesion as a maneuver to reduce the intraoperative bleeding. Central neurocytomas represent less than 0.5% of all intracranial tumors, and atypical central neurocytomas usually have unfavorable outcome, with high recurrence rate. The intraventricular location is frequent, with a predilection for the lateral ventricles. When completely resected, these lesions have a good prognosis. We report a case of a 12-year old male patient that presented with a history of headache for about 6 months, which worsened for 1 week prior to admission. Magnetic resonance imaging (MRI) brain showed a massive lesion occupying both lateral ventricles. He underwent a microsurgical treatment of a highly vascularized lesion, but the perioperative bleeding required interruption of the surgery. Thus, a preoperative embolization was able to occlude most arterial feeders and allowed subtotal resection in a second surgery. The patient had complete neurological recovery despite immediate post-operative deficits, and the histopathology was suggestive of atypical neurocytoma. Two-stage surgery with preoperative adjuvant embolization is a feasible strategy for treatment of large central neurocytomas in children.

Meta-analyses of cavum septum pellucidum in mood disorders in comparison with healthy controls or schizophrenia.

The cavum septum pellucidum (CSP) is a neurodevelopmental abnormality significantly more prevalent in subjects with schizophrenia (SCZ) than in healthy controls (HC). Using meta-analyses, we tested the hypotheses whether CSP would be more frequent in subjects with mood disorders when compared with HC or SCZ. We performed a search in MEDLINE and EMBASE followed by 10 meta-analyses of magnetic resonance imaging studies which examined the association of CSP in bipolar disorders (BD), major depressive disorder (MDD) or mood disorders (MD; considering MDD and BD combined) with either HC or SCZ. Nine studies were included, comprising 692 cases (363 with BD, 182 with MDD and 147 with MD), 463 with SCZ and 630 HC. CSP of any size was significantly associated with BD (OR = 2.07, 95% CI: 1.48-2.90) when compared with HC. Large CSP showed a trend to be associated with BD when compared with HC, but the association was not statistically significant (OR = 1.92, 95% CI 0.64-5.78). Large CSP was significantly associated with subjects with SCZ when compared with subjects with MD (OR = 0.57, 95% CI: 0.36-0.92). There was no association between CSP and MDD in comparison to HC or subjects with SCZ. Cortical structures are known to be altered in mood disorders. The present metanalysis found that certain midline brain abnormalities, such as CSP, are also associated with BD.

Two-dimensional visualization and measurement of the fetal optic chiasm: improving counseling for antenatal diagnosis of agenesis of the septum pellucidum.

OBJECTIVE: To develop an objective method for visualizing and measuring the fetal optic chiasm (OC) using transvaginal two-dimensional (2D) ultrasound in the coronal plane and to report measurements in fetuses with agenesis of the septum pellucidum (SP). METHODS: This was a prospective cross-sectional study of 115 morphologically normal fetuses in low-risk pregnancies, between 21 and 30 weeks' gestation. The OC was measured in a coronal plane at the level of the third ventricle and was seen as a horizontally aligned dumbbell-shaped structure of moderate echogenicity. In addition, OC measurements from eight fetuses with agenesis of the SP and complete follow-up were compared with the reference range. RESULTS: OC measurements were obtained in 110/115 normal fetuses and showed that OC increases linearly with gestational age. Our method of measurement demonstrated good intraobserver repeatability and excellent interobserver reproducibility. Among the eight fetuses with agenesis of the SP, five had normal OC measurements and five had normal vision postnatally. Pregnancy continued to term in all cases and the follow-up period varied from 6 months to 7 years. CONCLUSION: Our study demonstrates that it is possible to visualize and measure the OC directly on a 2D ultrasound coronal plane. In fetuses with agenesis of the SP, the morphology and width of the OC visual pathway could prove a relevant tool for assessing its development. It would also help in the difficult task of providing antenatal counseling when faced with the diagnosis of agenesis of the SP. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Adhesio interthalamica and cavum septum pellucidum in mesial temporal lobe epilepsy.

The absence of the adhesio interthalamica (AI; also called interthalamic adhesion or massa intermedia) and the presence of a large cavum septum pellucidum (CSP) later in life have been related to neurodevelopmental alterations and have not been systematically investigated in epilepsy to date. This study carried out a MRI evaluation of the AI and CSP in a large sample with mesial temporal lobe epilepsy (MTLE). A total of 179 patients, classified according to the side of the epileptogenic focus, and 156 age- and sex-balanced healthy controls were assessed. Between-group comparisons of the prevalence and length of both AI and CSP were conducted. Neuropsychological assessments were also performed in 160 MTLE patients. The patients exhibited reduction in the AI prevalence (P < 0.05; FDR-uncorrected) and length (P < 0.05; FDR-corrected) when compared to controls. Patients without AI showed lower scores in a proportion of neuropsychological tests than patients with AI. No CSP differences were found between MTLE patients and controls. These results support that AI anomalies have clinical significance in MTLE, as well as indicate that neurodevelopmental alterations may be implicated in this disorder.

[Endoscopic transepto-interforniceal approach to colloid cysts: case report]. / Acesso endoscópico transepto-interforniceal para cistos colóides: relato de caso.

The endoscopic treatment of colloid cysts of third ventricle is still controversial. Management of the patient can include observation and serial CT or MRI imaging only, ventriculo peritoneal shunt only, stereotactic aspiration, microsurgery and endoscopy. The author reports the case of a patient with colloid cyst of third ventricle located in a retroforaminal position, in the diencefalic roof, dissecting the raphe fornix, expanding supero-posteriorly, inside the cavum of the septum pellucidum, protruding on the floor of lateral ventricles. The cyst was approached with a rigid neuroendoscope, through a pre-coronal burr hole, 2.5 cm lateral to the midline (Kochers point). Following a transventricular route, the right leaf of the septum pellucidum was endoscopically opened with bipolar, posterior to the septal vein. A yellowish hard lesion was found and partially resected with biopsy forceps, between the two fornices, which were split apart by the uncommon expansion and location of the lesion, allowing a new endoscopic transventricular transepto-interforniceal approach. We also performed endoscopic septostomy and third ventriculostomy. The microsurgical approaches compared with endoscopic approaches, and the possibility of endoscopic alternative routes suitable for selected cases with superior expansion towards the fornix and septum pellucidum is discussed.

Incidence of cavum septum pellucidum in adults: a sign of boxer's encephalopathy.

We studied the relative frequency of cavum septum pellucidum (CSP) by CT. Six of 9 men with CSP were boxers or had head trauma. We conclude that some cases of CSP are not congenital variants, but rather may serve as an indicator of prior head trauma, especially in boxers. In such instances, CSP may be a CT sign of traumatic encephalopathy.