RESUMO
AQP4 is expressed in the endfeet membranes of subpial and perivascular astrocytes and in the ependymal cells that line the ventricular system. The sporadic appearance of obstructive congenital hydrocephalus (OCHC) has been observed in the offspring of AQP4-/- mice (KO) due to stenosis of Silvio's aqueduct. Here, we explore whether the lack of AQP4 expression leads to abnormal development of ependymal cells in the aqueduct of mice. We compared periaqueductal samples from wild-type and KO mice. The microarray-based transcriptome analysis reflected a large number of genes with differential expression (809). Gene sets (GS) associated with ependymal development, ciliary function and the immune system were specially modified qPCR confirmed reduced expression in the KO mice genes: (i) coding for transcription factors for ependymal differentiation (Rfx4 and FoxJ1), (ii) involved in the constitution of the central apparatus of the axoneme (Spag16 and Hydin), (iii) associated with ciliary assembly (Cfap43, Cfap69 and Ccdc170), and (iv) involved in intercellular junction complexes of the ependyma (Cdhr4). By contrast, genes such as Spp1, Gpnmb, Itgax, and Cd68, associated with a Cd11c-positive microglial population, were overexpressed in the KO mice. Electron microscopy and Immunofluorescence of vimentin and γ-tubulin revealed a disorganized ependyma in the KO mice, with changes in the intercellular complex union, unevenly orientated cilia, and variations in the planar cell polarity of the apical membrane. These structural alterations translate into reduced cilia beat frequency, which might alter cerebrospinal fluid movement. The presence of CD11c + microglia cells in the periaqueductal zone of mice during the first postnatal week is a novel finding. In AQP4-/- mice, these cells remain present around the aqueduct for an extended period, showing peak expression at P11. We propose that these cells play an important role in the normal development of the ependyma and that their overexpression in KO mice is crucial to reduce ependyma abnormalities that could otherwise contribute to the development of obstructive hydrocephalus.
Assuntos
Aquaporina 4 , Epêndima , Hidrocefalia , Camundongos Knockout , Microglia , Animais , Epêndima/metabolismo , Epêndima/patologia , Hidrocefalia/metabolismo , Hidrocefalia/genética , Hidrocefalia/patologia , Microglia/metabolismo , Aquaporina 4/metabolismo , Aquaporina 4/genética , Camundongos , Aqueduto do Mesencéfalo/metabolismo , Aqueduto do Mesencéfalo/patologia , Antígenos CD11/metabolismo , Antígenos CD11/genética , Camundongos Endogâmicos C57BLRESUMO
Keyhole aqueduct syndrome is a rare progressive neurodegenerative disorder describing a unique set of neuro-ophthalmologic, neuroimaging, and histopathological findings on autopsy. A midline mesencephalic cleft communicating with the cerebral aqueduct resembling syrinx is seen on imaging and histopathology. There are 9 cases published in the literature. We encountered a patient with vertical nystagmus, internuclear ophthalmoplegia, and progressive ataxia who has a midline cleft connecting the cerebral aqueduct with the interpeduncular cistern highlighting a distinguishing feature of this syndrome.
Assuntos
Aqueduto do Mesencéfalo , Imageamento por Ressonância Magnética , Humanos , Aqueduto do Mesencéfalo/diagnóstico por imagem , Aqueduto do Mesencéfalo/anormalidades , Aqueduto do Mesencéfalo/patologia , Imageamento por Ressonância Magnética/métodos , Síndrome , Diagnóstico Diferencial , Masculino , FemininoRESUMO
The inflow of CSF into perivascular spaces (PVS) in the brain is crucial for clearing waste molecules. Inefficiency in PVS flow leads to neurodegeneration. Failure of PVS flushing is associated with CSF flow impairment in the intracranial hydrodynamic condition of CSF hypo-pulsatility. However, enlarged PVS (ePVS), a finding indicative of PVS flow dysfunction, is also present in patients with derangement of CSF dynamics characterized by CSF hyper-pulsatility, which increases CSF flow. Intriguingly, two opposite intracranial hydrodynamic conditions would lead to the same result of impairing the PVS flushing. To investigate this issue, we assessed the subsistence of a dysfunctional interplay between CSF and PVS flows and, if the case, the mechanisms preventing a hyper-pulsatile brain from providing an effective PVS flushing. We analyzed the association between phase contrast MRI aqueductal CSF stroke volume (aqSV), a proxy of CSF pulsatility, and the burden of ePVS in chronic adult hydrocephalus, a disease involving a broad spectrum of intracranial hydrodynamics disturbances. In the 147 (85 males, 62 females) patients, the age at diagnosis ranged between 28 and 88 years (median 73 years). Ninety-seven patients had tri-ventriculomegaly and 50 tetra-ventriculomegaly. According to the extent of ePVS, 113 patients had a high ePVS burden, while 34 had a low ePVS burden. aqSV, which ranged between 0 and 562 µL (median 86 µL), was increased with respect to healthy subjects. Patients presenting with less ePVS burden had higher aqSV (p < 0.002, corrected for the multiple comparisons) than those with higher ePVS burden. The present study confirmed the association between CSF dynamics and PVS flow disturbances and demonstrated this association in intracranial hyper-pulsatility. Further studies should investigate the association between PVS flow failure and CSF hypo- and hyper-pulsatility as responsible/co-responsible for glymphatic failure in other neurodegenerative diseases, particularly in diseases in which CSF disturbances can be corrected, as in chronic adult hydrocephalus.
Assuntos
Sistema Glinfático , Hidrocefalia , Imageamento por Ressonância Magnética , Humanos , Hidrocefalia/líquido cefalorraquidiano , Hidrocefalia/fisiopatologia , Hidrocefalia/patologia , Masculino , Feminino , Idoso , Pessoa de Meia-Idade , Adulto , Sistema Glinfático/fisiopatologia , Sistema Glinfático/patologia , Idoso de 80 Anos ou mais , Líquido Cefalorraquidiano , Hidrodinâmica , Volume Sistólico , Aqueduto do Mesencéfalo/patologia , Aqueduto do Mesencéfalo/fisiopatologia , Doença CrônicaRESUMO
OBJECTIVE: Pulsatile CSF flow patterns include flow through the ventricles to the subarachnoid space and cisterns and from the infra- to the supratentorial subarachnoid space. In this study, we demonstrate how an obstruction at the level of the prepontine space may lead to obstructive hydrocephalus with specific radiological characteristics, as well as the implications for treatment options. METHODS: We retrospectively collected data of patients who underwent surgery between February 2010 and December 2022 for hydrocephalus secondary to a suspected prepontine block. One additional patient diagnosed with prepontine block who did not undergo surgery was also included. We excluded patients with a background of previous unrelated neurosurgical procedures or CNS infections. RESULTS: Six children and two adults were included. Three presented with hydrocephalus on imaging, without any other underlying pathology. Five had a suprasellar arachnoid cyst, with its lower border abating the pons and occluding the spinal subarachnoid space (SAS). All cases had an open aqueduct on T2 sagittal sequences, as well as an infracerebellar or retrocerebellar CSF collection. In most cases, a horizontal web was identified in the prepontine region. Seven cases were treated with an endoscopic fenestration. One patient subsequently underwent a shunt surgery. All the operated children reached normal developmental milestones after surgery. CONCLUSIONS: This paper describes a rather small series of cases where clear obstruction was observed at the level of the prepontine subarachnoid space. We believe this anatomical subtlety adds to a better understanding of CSF pathways and the role of ETV in treating hydrocephalus, focusing on a small subgroup of patients without a clear obstruction.
Assuntos
Hidrocefalia , Criança , Adulto , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Hidrocefalia/cirurgia , Ventrículos Cerebrais/cirurgia , Aqueduto do Mesencéfalo/patologia , Ventriculostomia/métodosRESUMO
Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero, of poor neurodevelopmental prognosis. This ventricular enlargement can be the consequence of different mechanisms: either by a disruption of the cerebrospinal fluid circulation or abnormalities of its production/absorption. The aqueduct stenosis is one of the most frequent causes of obstructive ventriculomegaly, however, fewer than 10 genes have been linked to this condition and molecular bases remain often unknown. We report here 4 fetuses from 2 unrelated families presenting with ventriculomegaly at prenatal ultra-sonography as well as an aqueduct stenosis and skeletal abnormalities as revealed by fetal autopsy. Genome sequencing identified biallelic pathogenic variations in LIG4, a DNA-repair gene responsible for the LIG4 syndrome which associates a wide range of clinical manifestations including developmental delay, microcephaly, short stature, radiation hypersensitivity and immunodeficiency. Thus, not only this report expands the phenotype spectrum of LIG4-related disorders, adding ventriculomegaly due to aqueduct stenosis, but we also provide the first neuropathological description of fetuses carrying LIG4 pathogenic biallelic variations.
Assuntos
DNA Ligase Dependente de ATP , Hidrocefalia , Fenótipo , Humanos , Feminino , Hidrocefalia/genética , Hidrocefalia/patologia , Hidrocefalia/diagnóstico por imagem , Masculino , DNA Ligase Dependente de ATP/genética , Aqueduto do Mesencéfalo/patologia , Aqueduto do Mesencéfalo/anormalidades , Aqueduto do Mesencéfalo/diagnóstico por imagem , Feto/patologia , Gravidez , Mutação , Adulto , Constrição Patológica/genética , Constrição Patológica/patologiaRESUMO
PURPOSE: Endoscopic transaqueductal stenting has become a well-accepted treatment option for a selected small subset of aqueductal stenosis-related obstructive hydrocephalus. However, transaqueductal stenting poses unique challenges and risks which requires critical consideration. This report discusses the clinical experiences with transaqueductal stenting for periaqueductal tumor-related aqueductal stenosis focusing on pediatric patients. METHODS: A retrospective analysis of all patients undergoing endoscopic TAS from 01/1993 to 01/2022 in the author's departments was performed. Demographic, clinical, radiological, and intraoperative endoscopic data were evaluated. All patients with AS-related occlusive hydrocephalus that was treated with TAS were analyzed and prospectively followed. Special attention has been given to providing insights into indications, surgical technique, and limitations. RESULTS: Out of 28 endoscopic transaqueductal endoscopis stenting procedures, five procedures were performed on periaqueductal tumor-related obstructive hydrocephalus, two children and three adult patients. CSF pathway was obstructed by tumor located in the aqueduct in 2, by tumor in the thalamus/mesencephalon in 1, by a tumor within the third ventricle in 1, and by a tumor of the lamina tecti in 1. Simultaneously with transaqueductal stenting, 2 endoscopic third ventriculostomies (ETV), 3 tumor biopsies, and 1 tumor resection were performed. Postoperative complications included the following: CSF fistula (1 case), and asymptomatic fornix contusion (1 case). A working aqueductal stent was achieved in all cases based on clinical follow-up evaluation. Postoperatively, all patients showed improvement or resolution of their symptoms. The mean follow-up period was 25.2 months (range, 1-108 months). One patient died due to tumor progression during early follow-up. No stent migration was seen. CONCLUSION: Endoscopic third ventriculostomy remains the gold standard for treatment of CSF circulation obstructions with lesions in the posterior third ventricle and aqueduct. Transaqueductal stenting for periaqueductal tumor-related aqueductal compression is technically feasible. However, because of the potential high risks and subtle advantages compared with ETV transaqueductal stenting, it might be indicated in a small subset of well-selected patients if alternative treatment options are not at hand.
Assuntos
Doenças Genéticas Ligadas ao Cromossomo X , Hidrocefalia , Neoplasias , Neuroendoscopia , Terceiro Ventrículo , Adulto , Humanos , Criança , Estudos Retrospectivos , Aqueduto do Mesencéfalo/cirurgia , Aqueduto do Mesencéfalo/patologia , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Hidrocefalia/diagnóstico , Terceiro Ventrículo/cirurgia , Ventriculostomia/métodos , Neoplasias/complicações , Neoplasias/patologia , Neoplasias/cirurgia , Stents/efeitos adversos , Neuroendoscopia/métodos , Resultado do TratamentoRESUMO
BACKGROUND: The aqueductal web (AW) is one of the causes of aqueductus stenosis (AS). Recent advances in Magnetic resonance (MR) imaging have enabled us to better reveal the cerebrospinal fluid (CSF) flow dynamics and aqueductal anatomy. PURPOSE: The aim of this study is to evaluate the CSF flow dynamics of patients with AW with phase contrast Magnetic resonance imaging (MRI) and compare them with the imaging findings. MATERIALS AND METHODS: We evaluated 23 patients under 65-year-old age. On constructive interference in steady-state (T2 CISS) images, the width of prepontine cistern (PPC) and the width of Sylvian aqueduct (SA) were measured. Localization and number of webs were evaluated. The existence of flow at the aqueduct and the presence of spontaneous third ventriculostomy (STV) were evaluated on sagittal Sampling Perfection with Application optimized Contrast (SPACE) sequences. RESULTS: Of the 23 patients included in the study, 11 were male and 12 were female. The mean age was 34.02 (0.5-64). A total of 31 AWs were detected in 23 patients. Six of 23 patients (26.1%) had STV and 17 of those not. Four of 23 patients (17.4%) had aqueductal flow on SPACE sequences. The PPC distance was significantly wider in patients with STV (median: 6.7-4.5, interquartile range (IQR): 1.35, p = 0.004). In the cases where artifact secondary to flow is observed in SPACE sequences in aqueduct, the Evan index (EI) was significantly lower (median: 0.2955-0.3900, IQR: 0.03-0.14, p < 0.001). CONCLUSION: In patients with a low EI, there may be flow in the SA even if there is a web. In patients with a wide PPC distance, it is necessary to consider the presence of STV and evaluate the presence of flow with the SPACE sequences.
Assuntos
Aqueduto do Mesencéfalo , Aqueduto do Mesencéfalo/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X , Hidrocefalia , Humanos , Masculino , Feminino , Adulto , Idoso , Aqueduto do Mesencéfalo/diagnóstico por imagem , Aqueduto do Mesencéfalo/patologia , Hidrocefalia/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodosRESUMO
BACKGROUND: Spontaneous third ventriculostomy (STV) is a rare occurrence in cases of obstructive hydrocephalus where the walls of the third ventricle rupture, communicating the ventricular system, and the subarachnoid space leading to arrest of active hydrocephalus. We aim to review our series of STVs while reviewing previous reports. METHODS: A retrospective review of cases undergoing cine phase-contrast magnetic resonance imaging (PC-MRI) from 2015 to 2022 of any age with imaging evidence of arrested obstructive hydrocephalus was performed. Patients in which aqueductal stenosis was radiologically evident and the presence of third ventriculostomy through which cerebrospinal fluid flow was detectable were included. Patients who previously underwent endoscopic third ventriculostomy were excluded. Data on patient demographics, presentation, and imaging details of STV and aqueductal stenosis were collected. We searched the PubMed database using the following keyword combination: ((("spontaneous ventriculostomy") OR ("spontaneous third ventriculostomy")) OR ("spontaneous ventriculocisternostomy")) including English reports of STV published between 2010 and 2022. RESULTS: Fourteen cases were included (7 adults, 7 pediatrics), all with history of hydrocephalus. STV occurred in the floor of the third ventricle in 57.1% of the cases, at the lamina terminalis in 35.7%, and at both sites in 1 case. Eleven publications reporting 38 cases of STV were identified from 2009 to date. Minimum follow-up period was 10 months and maximum follow-up is 77 months. CONCLUSIONS: In cases of chronic obstructive hydrocephalus, neurosurgeons should be minded with the possibility of the presence of an STV on cine phase-contrast magnetic resonance imaging leading to arrested hydrocephalus. The delayed flow at the aqueduct of Sylvius might not be the only determinant of the necessity of cerebrospinal fluid diversion and the presence of an STV should be factored into the neurosurgeon's decision considering the patient's clinical picture.
Assuntos
Hidrocefalia , Terceiro Ventrículo , Adulto , Humanos , Criança , Aqueduto do Mesencéfalo/diagnóstico por imagem , Aqueduto do Mesencéfalo/cirurgia , Aqueduto do Mesencéfalo/patologia , Ventriculostomia/métodos , Estudos Retrospectivos , Terceiro Ventrículo/diagnóstico por imagem , Terceiro Ventrículo/cirurgia , Terceiro Ventrículo/patologia , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Resultado do TratamentoRESUMO
Congenital hydrocephalus is a common condition caused by the accumulation of cerebrospinal fluid in the ventricular system. Four major genes are currently known to be causally involved in hydrocephalus, either isolated or as a common clinical feature: L1CAM, AP1S2, MPDZ and CCDC88C. Here, we report 3 cases from 2 families with congenital hydrocephalus due to bi-allelic variations in CRB2, a gene previously reported to cause nephrotic syndrome, variably associated with hydrocephalus. While 2 cases presented with renal cysts, one case presented with isolated hydrocephalus. Neurohistopathological analysis allowed us to demonstrate that, contrary to what was previously proposed, the pathological mechanisms underlying hydrocephalus secondary to CRB2 variations are not due to stenosis but to atresia of both Sylvius Aqueduct and central medullar canal. While CRB2 has been largely shown crucial for apico-basal polarity, immunolabelling experiments in our fetal cases showed normal localization and level of PAR complex components (PKCι and PKCζ) as well as of tight (ZO-1) and adherens (ß-catenin and N-Cadherin) junction molecules indicating a priori normal apicobasal polarity and cell-cell adhesion of the ventricular epithelium suggesting another pathological mechanism. Interestingly, atresia but not stenosis of Sylvius aqueduct was also described in cases with variations in MPDZ and CCDC88C encoding proteins previously linked functionally to the Crumbs (CRB) polarity complex, and all 3 being more recently involved in apical constriction, a process crucial for the formation of the central medullar canal. Overall, our findings argue for a common mechanism of CRB2, MPDZ and CCDC88C variations that might lead to abnormal apical constriction of the ventricular cells of the neural tube that will form the ependymal cells lining the definitive central canal of the medulla. Our study thus highlights that hydrocephalus related to CRB2, MPDZ and CCDC88C constitutes a separate pathogenic group of congenital non-communicating hydrocephalus with atresia of both Sylvius aqueduct and central canal of the medulla.
Assuntos
Aqueduto do Mesencéfalo , Hidrocefalia , Humanos , Aqueduto do Mesencéfalo/patologia , Polaridade Celular/genética , Hidrocefalia/patologia , Proteínas , Proteínas de Transporte/genética , Proteínas de Membrana/genética , Proteínas dos Microfilamentos , Peptídeos e Proteínas de Sinalização IntracelularRESUMO
BACKGROUND: Multiple sclerosis (MS) is usually described as an autoimmune disease, although the exact mechanism of the disease remains unknown. There have been studies reporting that venous flow abnormalities may be involved in the pathogenesis of MS or many of the associated clinical manifestations. OBJECTIVE: The aim of this study was to evaluate flow volumes of the middle cerebral artery (MCA), transverse sinus (TS), and cerebral aqueduct using phase contrast magnetic resonance imaging (PC-MRI) in relapsing-remitting MS patients and a control group. METHODS: We included 34 patients diagnosed by the McDonald criteria, revised in 2017, as well as 15 healthy controls matched by age and sex. The MRI scans were performed using a 1.5-T superconducting scanner. Axial T1-weighted, T2-weighted, and PC-MRI sequences were performed for the quantitative investigation of flow volume measurements. Quantitative analyses of flows were performed using flow analyses program PC-MRI angiography software. A circular region of interest was placed manually into the cerebral aqueduct, bilateral MCA, and TS. RESULTS: Flow volumes of the cerebral aqueduct and MCA were not statistically significant between the MS and control groups. The flow volumes of the TS for the patient group were lower than those of the control group, and this difference was statistically significant. CONCLUSIONS: A reduced TS flow volume in MS patients was noted in the present study when compared with the control group, suggesting a relation between venous pathologies and MS. Further studies are needed to understand whether this relation is causal or epiphenomenal.
ANTECEDENTES: A esclerose múltipla (EM) é comumente descrita como uma doença autoimune, embora seu mecanismo exato permaneça desconhecido. Há estudos que afirmam que anormalidades no fluxo venoso podem estar relacionadas à patogênese da EM ou a muitas das manifestações clínicas associadas. OBJETIVO: O objetivo deste estudo é avaliar os volumes de fluxo da artéria cerebral média (ACM), do seio transverso (ST) e do aqueduto cerebral usando ressonância magnética com contraste de fase (PC-MRI) em com EM recorrente-remitente. MéTODOS: Incluímos 34 pacientes diagnosticados pelos critérios de McDonald, revisados em 2017, além de 15 controles saudáveis pareados por idade e gênero. A ressonância magnética foi realizada usando um scanner supercondutor de 1,5 T. As sequências de PC-RM axiais, ponderadas em T1 e ponderadas em T2 foram realizadas para investigação quantitativa das medidas de volume de fluxo. As análises quantitativas de fluxo foram realizadas usando o software de angiografia PC-MRI do programa de análise de fluxo. Uma região circular de interesse foi localizada manualmente no aqueduto cerebral, ACM bilateral e ST. RESULTADOS: Os volumes de fluxo do aqueduto cerebral e da ACM não foram estatisticamente significantes entre o grupo de pacientes e os controles. Os volumes ST do grupo de pacientes foram menores que os do grupo controle, e essa diferença foi estatisticamente significante. CONCLUSõES: No presente estudo, um menor volume de fluxo ST foi registrado em pacientes com EM em comparação ao grupo controle, sugerindo uma relação entre patologias venosas e EM; Mais estudos são necessários para entender se essa relação é causal ou um fenômeno secundário.
Assuntos
Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Aqueduto do Mesencéfalo/diagnóstico por imagem , Aqueduto do Mesencéfalo/patologia , Líquido Cefalorraquidiano , Humanos , Imageamento por Ressonância Magnética/métodos , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/patologia , Esclerose Múltipla Recidivante-Remitente/diagnóstico por imagemRESUMO
Neonatal hydrocephalus represents an important pathological condition with significant impact on medical care and neurocognitive development. This condition requires early recognition, appropriate medical and surgical management, and long-term surveillance by clinicians and pediatric neurosurgeons. Common etiologies of neonatal and infant hydrocephalus include intraventricular hemorrhage related to prematurity with subsequent post-hemorrhagic hydrocephalus, myelomeningocele, and obstructive hydrocephalus due to aqueductal stenosis. Clinical markers of elevated intracranial pressure include rapid increases in head circumference across percentiles, elevation and firmness of the anterior fontanelle, splitting or splaying of cranial sutures, upgaze palsy, lethargy, frequent emesis, or episodic bradycardia (unrelated to other comorbidities). Complementing these clinical markers, imaging modalities used for the diagnosis of neonatal hydrocephalus include head ultrasonography, brain magnetic resonance imaging, and head computed tomography in urgent or emergent situations. Following diagnosis, temporizing measures may be employed prior to definitive treatment and include ventricular access device or ventriculo-subgaleal shunt insertion. Definitive surgical management involves permanent cerebrospinal fluid (CSF) diversion via CSF shunt insertion, or endoscopic third ventriculostomy with or without choroid plexus cauterization. Surgical decision-making and approaches vary based on patient age, hydrocephalus etiology, neuroanatomy, imaging findings, and medical comorbidities. Indications, surgical techniques, and clinical outcomes of these procedures continue to evolve and elicit significant attention in the research environment. In this review we describe the epidemiology, pathophysiology, clinical markers, imaging findings, early management, definitive surgical management, and clinical outcomes of pediatric patients with neonatal hydrocephalus.
Assuntos
Hidrocefalia , Cauterização/efeitos adversos , Cauterização/métodos , Aqueduto do Mesencéfalo/patologia , Aqueduto do Mesencéfalo/cirurgia , Criança , Plexo Corióideo/patologia , Plexo Corióideo/cirurgia , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Lactente , Recém-Nascido , Resultado do Tratamento , Ventriculostomia/efeitos adversos , Ventriculostomia/métodosRESUMO
OBJECTIVE: Although evidence and descriptions of the central canal (CC) along the medulla oblongata and the spinal cord have been provided by several anatomical and radiological studies, a clear picture and assessment of the opening of the CC, or apertura canalis centralis (ACC), into the fourth ventricle is lacking, due to its submillimetric size and hidden position in the calamus scriptorius. METHODS: The authors reviewed all of their cases in which patients underwent ventricular transaqueductal flexible endoscopic procedures and selected 44 cases in which an inspection of the region of the calamus scriptorius had been performed and was suitable for study inclusion. Patients were divided into different groups, based on the presence or absence of a chronic pathological process involving the fourth ventricle. In each case, the visual appearance of the opening of the CC of the ACC was classified as no evidence (A0), indirect evidence (A1), or clear evidence (A2). Morphometric measurements were inferred from surrounding structures and the size of surgical tools visible in the field. RESULTS: The opening of the CC could be clearly observed in all cases (A1 4.5%, A2 95.5%). In normal cases, a lanceolate shape along the median sulcus was most frequently found, with an average size of 600 × 250 µm that became rounded and smaller in size in cases of hydrocephalus. The distance between the caudal margin of the ACC and the obex was about 1.8 mm in normal cases, 2.1 mm in cases of obstructive hydrocephalus, and 1 mm in cases of normal pressure hydrocephalus. The two wings of the area postrema, variable in size and shape, were sited just caudal to the opening. CONCLUSIONS: A flexible scope inserted through the cerebral aqueduct can approach the hidden calamus scriptorius like a pen fits into an inkpot. With this privileged viewpoint, the authors provide for the first time, to their knowledge, a clear and novel vision of the opening of the CC in the fourth ventricle, along with the precise location of this tiny structure compared to other anatomical landmarks in the inferior triangle.
Assuntos
Hidrocefalia de Pressão Normal , Hidrocefalia , Neuroendoscopia , Aqueduto do Mesencéfalo/patologia , Aqueduto do Mesencéfalo/cirurgia , Quarto Ventrículo/cirurgia , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/patologia , Hidrocefalia/cirurgia , Hidrocefalia de Pressão Normal/cirurgia , Bulbo , Neuroendoscopia/métodos , Ventriculostomia/métodosRESUMO
BACKGROUND: Obstructive hydrocephalus in adulthood can be caused by stenosis in the aqueductal area. Chronic changes lead to a dilatation of the lateral ventricles and ballooning of infratentorial recesses. In rare cases a rupture of the floor of the third ventricle (so-called spontaneous ventriculostomy) has been described in the literature.Case presentation: We present two cases of chronic obstructive hydrocephalus due to aqueductal stenosis in adult patients. Magnetic resonance imaging included phase-contrast-imaging and revealed significant flow through the floor of the third ventricle in keeping with spontaneous ventriculostomy. In addition to other typical changes associated with chronic hydrocephalus, a distinct flattening of the tectal plate could be identified in one case. CONCLUSION: We present two cases of spontaneous ventriculostomy in patients with chronic hydrocephalus. To our knowledge, flattening of the tectal plate has not yet been described in the literature and may be caused by continuous cerebrospinal fluid-pulsation.
Assuntos
Hidrocefalia , Terceiro Ventrículo , Adulto , Aqueduto do Mesencéfalo/patologia , Aqueduto do Mesencéfalo/cirurgia , Ventrículos Cerebrais/patologia , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Imageamento por Ressonância Magnética/efeitos adversos , Ventriculostomia/efeitos adversos , Ventriculostomia/métodosRESUMO
Third ventricle lesions, especially those located proximally to the foramen of Monro, generally present with obstructive hydrocephalus symptoms. In this report, we present a case with acute obstructive hydrocephalus secondary to a gel-foam material. The patient has previously underwent an endoscopic cystectomy. At postoperative third month, she admitted to our hospital with the complain of headache. Neuroradiological imaging revealed triventricular hydrocephalus. A second endoscopic operation was performed, and a piece of gelatin-sponge material was detected at the level of cerebral aqueduct, which obstructed the flow of cerebrospinal fluid (CSF). The CSF flow was immediately restored after removing this material, and an additional third ventriculostomy was performed.
Assuntos
Hidrocefalia , Terceiro Ventrículo , Aqueduto do Mesencéfalo/patologia , Endoscopia/métodos , Feminino , Gelatina , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Imageamento por Ressonância Magnética/efeitos adversos , Terceiro Ventrículo/diagnóstico por imagem , Terceiro Ventrículo/cirurgia , Ventriculostomia/métodosRESUMO
OBJECTIVE: The intracranial pressure-volume relation contains information relevant for diagnostics of hydrocephalus and other space-occupying pathologies. We aimed to design a noise-resilient surrogate for this relationship that can be calculated from intracranial pressure (ICP) signals. APPROACH: The new surrogate, termed respiratory amplitude quotient (RAQ), characterizes the modulation of the cardiac pulse wave amplitude by the respiratory wave in the ICP time course. RAQ is defined as the ratio of the amplitude of the respiratory wave in the ICP signal to the amplitude of the respiration-induced variation in the course of the cardiac pulse wave amplitude. We validated the calculation of RAQ on synthetically generated ICP waveforms. We further extracted RAQ retrospectively from overnight ICP recordings in a cohort of hydrocephalus patients with aqueductal stenosis, age 55.8 ± 18.0 years, and a comparison group with hydrocephalus diagnosed by morphology in MRI, but not responsive to either external lumbar drainage or ventriculo-peritoneal shunting, age 72.5 ± 6.1 years. RAQ was determined for the full recordings, and separately for periods containing B-waves. MAIN RESULTS: We found a mean difference of less than 2% between the calculated values of RAQ and the theoretically determined equivalent descriptors of the synthetic ICP waveforms. In the overnight recordings, we found significantly different RAQ values during B-waves in the aqueductal stenosis (0.86 ± 0.11) and non-responsive hydrocephalus patient groups (1.07 ± 0.20), p = 0.027. In contrast, there was no significant difference in other tested parameters, namely pressure-volume index, elastance coefficient, and resistance to outflow. Neither did we find significant difference when considering RAQ over the full recordings. SIGNIFICANCE: Our results indicate that RAQ may function as a potential surrogate for the intracranial pressure-volume relation.
Assuntos
Aqueduto do Mesencéfalo/patologia , Hidrocefalia , Pressão Intracraniana , Adulto , Idoso , Humanos , Hidrocefalia/diagnóstico , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
BACKGROUND: Central Neurocytomas (CNs) are rare brain tumors, making up less than 1% of all primary tumors within the CNS. They are commonly located in the lateral ventricles, and often present with visual changes and symptoms of obstructive hydrocephalus. Histopathology shows characteristics similar to ependymomas and oligodendrogliomas, however tumor cells display neuronal differentiation, and immunohistochemical stains typically for synaptophysin. Gross total resection is the most important prognostic indicator of survival. CASE DESCRIPTION: We describe the case of a 48-year-old male with a CN originating in the third ventricle with expansion through the cerebral aqueduct into the fourth ventricle. He presented with bi-frontal headaches, imaging revealed an avidly enhancing tumor occupying the inferior third ventricle, cerebral aqueduct, with expansion into the fourth ventricle. An interhemispheric craniotomy with a transcallosal transchoroidal approach to the third ventricle was performed, this provided a trajectory that paralleled the long axis of the tumor. Postoperative imaging confirmed a near total resection with linear residual enhancement on the anterior wall of the fourth ventricle. Intensity modulated radiotherapy was performed, 7-month follow-up imaging was clean. CONCLUSION: CNs are rare brain tumors, most commonly located within the lateral ventricles. We describe a rare case of a CN spanning from the third ventricle into the cerebral aqueduct and fourth ventricle. To our knowledge, this is only the fourth reported case of such a tumor. Surgical approach must be carefully selected, as gross total resection is the most important prognostic indicator.
Assuntos
Aqueduto do Mesencéfalo/patologia , Neoplasias do Ventrículo Cerebral/patologia , Neoplasias do Ventrículo Cerebral/cirurgia , Quarto Ventrículo/patologia , Neurocitoma/patologia , Neurocitoma/cirurgia , Procedimentos Neurocirúrgicos/métodos , Terceiro Ventrículo/patologia , Aqueduto do Mesencéfalo/diagnóstico por imagem , Neoplasias do Ventrículo Cerebral/radioterapia , Plexo Corióideo/anatomia & histologia , Plexo Corióideo/cirurgia , Terapia Combinada , Corpo Caloso/anatomia & histologia , Corpo Caloso/cirurgia , Craniotomia , Quarto Ventrículo/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neurocitoma/radioterapia , Terceiro Ventrículo/diagnóstico por imagem , Resultado do TratamentoRESUMO
Developmental venous anomaly (DVA) is the most common type of intracranial vascular malformation. These lesions are benign and are considered to be non-pathological variants of normal deep parenchymal veins. Although most of them are asymptomatic, a small subset of them located in aqueductal region have been reported to cause obstructive hydrocephalus. The authors present an interesting case of biventricular hydrocephalus secondary to a DVA located on the proximal aqueduct in an adolescent patient. This case is discussed with in corroboration with current literature and management recommendations.
Assuntos
Angioma Venoso do Sistema Nervoso Central/complicações , Ventrículos Cerebrais/patologia , Hidrocefalia/etiologia , Hidrocefalia/patologia , Adolescente , Aqueduto do Mesencéfalo/diagnóstico por imagem , Aqueduto do Mesencéfalo/patologia , Veias Cerebrais/diagnóstico por imagem , Veias Cerebrais/patologia , Ventrículos Cerebrais/diagnóstico por imagem , Feminino , Humanos , Hidrocefalia/diagnóstico por imagemRESUMO
BACKGROUND: Dilatation of Virchow-Robin spaces (dVRS) have been described in the development of hydrocephalic syndromes. We report an unusual case of a type III dVRS presenting as a mimic of normal pressure hydrocephalus (NPH), due to distortion at the level of the cerebral aqueduct. CASE DESCRIPTION: A 59-year-old woman presented with mild traumatic brain injury and possible NPH, due to a history of progressive gait disturbance, recurrent falls, and cognitive decline over a year, in the context of ventriculomegaly. Detailed structural imaging of the brain revealed multiple dilated cystic lesions consistent with dVRS causing distortion at the level of the cerebral aqueduct. Cerebrospinal fluid examination was negative for infection. The patient was treated with endoscopic third ventriculostomy; at 12 months postoperatively, she demonstrated a sustained improvement in gait and stabilization of cognitive decline. CONCLUSIONS: This is an illustrative case of a subacute obstructive hydrocephalus due to a collection of periaqueductal dVRS, leading to an insidious clinical presentation mimicking NPH. We reviewed the literature for key clinical presentations and describe neuroanatomical considerations as well as primary treatment strategies. Various hydrocephalic syndromes may present with classic symptoms from Hakim's triad; such symptoms are not specific to idiopathic NPH. Both endoscopic third ventriculostomy and shunting may be efficacious. In our case, dVRS may serve as both a cause of and compensatory mechanism in a subacute obstructive hydrocephalus of unknown etiology. Our case highlights the need to understand the neuroanatomy of aberrant cerebrospinal fluid spaces in hydrocephalic syndromes. Further studies of dVRS would provide valuable insights into the pathogenesis of hydrocephalus.
Assuntos
Aqueduto do Mesencéfalo/patologia , Sistema Glinfático/patologia , Hidrocefalia/patologia , Mesencéfalo/patologia , Ponte/patologia , Diagnóstico Diferencial , Dilatação Patológica/patologia , Feminino , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/etiologia , Hidrocefalia de Pressão Normal/diagnóstico , Pessoa de Meia-Idade , VentriculostomiaRESUMO
OBJECTIVES: Aqueduct stenosis (AS) and fourth ventricle outflow obstruction are rare associations of neurofibromatosis type 1 (NF1), resulting in ventriculomegaly and hydrocephalus requiring surgical treatment. This study aims to identify the prevalence of AS and its patterns of clinical presentation, aetiology and treatment in the paediatric complex NF1 population. PATIENTS AND METHODS: Patients with NF-1 aged 0-18 years were recruited from the Regional Genetic Family Register, following institutional review board approval. Magnetic resonance imaging data and clinical documents were reviewed with respect to clinical presentation, degree of ventriculomegaly, aetiological factors and management of AS and fourth ventricle outflow obstruction. RESULTS: 24 of the 233 paediatric patients seen within the NHS highly specialised service for complex NF1 were found to have AS or and fourth ventricle outflow obstruction. This included 13 males and 11 females with a mean age of 9 years 5 months (range 8 months - 17 years). The majority of patients with AS or fourth ventricle outflow obstruction presented with symptoms of raised intracranial pressure associated with ventriculomegaly and/or hydrocephalus (n = 18). However, in 25 % of patients, AS was an incidental finding on MRI and was observed both in the presence (n = 2) and absence (n = 4) of ventriculomegaly. In the majority of cases a single cause of AS was identified (n = 16), of which tectal plate thickening (n = 7) was most frequently observed. The remaining 8 patients had multiple causes of AS, in which tectal plate thickening (n = 7) and aqueductal webs (n = 5) were the most common observations. Surgery was performed on all patients with evidence of raised pressure (n = 8) by performing endoscopic third ventriculostomy (ETV) (n = 5) or ventriculoperitoneal (VP)-shunting (n = 3). Tectal plate thickening was most frequently observed in patients who underwent ETV (n = 3), followed by aqueductal web (n = 1) and T2-signal changes in the tectal plate (n = 1). Patients treated with VP-shunt had 4th ventricle outflow obstruction (n = 2) and a tectal plate tumour (n = 1). CONCLUSION: This study identifies that AS is more prevalent amongst the paediatric complex NF-1 population than previously reported, occurring in 10 % of cases. Our findings demonstrate that AS is most commonly symptomatic in presentation but can be asymptomatic in 25 % of paediatric complex NF1 patients. In this population, AS can occur both in the presence and absence of ventriculomegaly and therefore requires careful monitoring for development of hydrocephalus. In this study, over one third of patients (9 of 24 patients) with AS eventually required treatment.
Assuntos
Aqueduto do Mesencéfalo/diagnóstico por imagem , Aqueduto do Mesencéfalo/patologia , Quarto Ventrículo/patologia , Neurofibromatose 1/complicações , Neurofibromatose 1/patologia , Adolescente , Criança , Pré-Escolar , Constrição Patológica , Feminino , Quarto Ventrículo/diagnóstico por imagem , Humanos , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Lactente , Hipertensão Intracraniana/etiologia , Imageamento por Ressonância Magnética , Masculino , Neurofibromatose 1/diagnóstico por imagem , Estudos Retrospectivos , Resultado do Tratamento , Derivação Ventriculoperitoneal , VentriculostomiaRESUMO
BACKGROUND: X-linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of L1CAM. It codes the protein L1 cell adhesion molecule (L1CAM), playing a crucial role in the development of the nervous system. The objective of the study was to report a new disease-causing mutation site of L1CAM, and gain further insight into the pathophysiology of hydrocephalus. METHODS: We collect the samples of a couple and their second hydrocephalic fetus. Then, the whole-exome sequencing and in-depth mutation analysis were performed. RESULTS: The variant c.2491delG (p.V831fs), located in the exon 19 of L1CAM (chrX:153131214), could damage the L1CAM function by producing a frameshift in the translation of fibronectin type-III of L1CAM. CONCLUSION: We identified a novel disease-causing mutation in L1CAM for the first time, which further confirmed L1CAM as a gene underlying XLH cases.