Presence Of Ventriculomegaly Research Articles

Assessing CT-based Volumetric Analysis via Transfer Learning with MRI and Manual Labels for Idiopathic Normal Pressure Hydrocephalus.

Brain computed tomography (CT) is an accessible and commonly utilized technique for assessing brain structure. In cases of idiopathic normal pressure hydrocephalus (iNPH), the presence of ventriculomegaly is often neuroradiologically evaluated by visual rating and manually measuring each image. Previously, we have developed and tested a deep-learning-model that utilizes transfer learning from magnetic resonance imaging (MRI) for CT-based intracranial tissue segmentation. Accordingly, herein we aimed to enhance the segmentation of ventricular cerebrospinal fluid (VCSF) in brain CT scans and assess the performance of automated brain CT volumetrics in iNPH patient diagnostics. The development of the model used a two-stage approach. Initially, a 2D U-Net model was trained to predict VCSF segmentations from CT scans, using paired MR-VCSF labels from healthy controls. This model was subsequently refined by incorporating manually segmented lateral CT-VCSF labels from iNPH patients, building on the features learned from the initial U-Net model. The training dataset included 734 CT datasets from healthy controls paired with T1-weighted MRI scans from the Gothenburg H70 Birth Cohort Studies and 62 CT scans from iNPH patients at Uppsala University Hospital. To validate the model's performance across diverse patient populations, external clinical images including scans of 11 iNPH patients from the Universitatsmedizin Rostock, Germany, and 30 iNPH patients from the University of Alabama at Birmingham, United States were used. Further, we obtained three CT-based volumetric measures (CTVMs) related to iNPH. Our analyses demonstrated strong volumetric correlations (ϱ=0.91, p<0.001) between automatically and manually derived CT-VCSF measurements in iNPH patients. The CTVMs exhibited high accuracy in differentiating iNPH patients from controls in external clinical datasets with an AUC of 0.97 and in the Uppsala University Hospital datasets with an AUC of 0.99. CTVMs derived through deep learning, show potential for assessing and quantifying morphological features in hydrocephalus. Critically, these measures performed comparably to gold-standard neuroradiology assessments in distinguishing iNPH from healthy controls, even in the presence of intraventricular shunt catheters. Accordingly, such an approach may serve to improve the radiological evaluation of iNPH diagnosis/monitoring (i.e., treatment responses). Since CT is much more widely available than MRI, our results have considerable clinical impact.

Characteristics of vascular risk factor and the presence of ventriculomegaly among patients with white matter changes in Bangli General Hospital, Bali, Indonesia

Background: White matter changes (WMC) is a common yet often incidental and neglected finding among older people in head CT or MRI examinations. This finding rarely becomes the main examination focus, although much research has proven its correlation with elderly disabilities, such as cognitive, executive, and motor function impairment. This lesion form is not fully understood, but chronic ischemic conditions may contribute due to a vascular risk factor (VRF) and ependymal cell impairment at the ventricular wall due to dilatation. Methods: This research aimed to explore the characteristics of VRF (history of hypertension, diabetes mellitus, and dyslipidemia) and the presence of ventriculomegaly among patients with WMC finding on head CT examination. This research was conducted with a descriptive retrospective method using a data registry at Bangli General Hospital, Bali, Indonesia, in 2022. Result: From 97 patients with WMC findings, most were aged &gt;60 (77.30%). Ventriculomegaly was found in 33.00% of them. Almost all had a history of hypertension (92.80%), and a history of dyslipidemia was found in 61.9%. Of all VRF components, diabetes mellitus was the least frequently found in patients (19.60%). The majority of WMC lesions involved the periventricular structure. Conclusion: WMC finding was more frequent among patients aged &gt;60, with a history of hypertension being the most frequent compared to other components of VRF. Ventriculomegaly was found in one-third of them.

IMAGING OF NORMAL PRESSURE HYDROCEPHALUS

Normal pressure hydrocephalus (NPH) is hydrocephalus without an increase in intracranial pressure. The term Idiopathic Normal Pressure Hydrocephalus (INPH) has been used to describe individuals presenting with ventriculomegaly of unexplained etiology, accompanied by the classic triad of symptoms (gait disturbance, urinary incontinence, and dementia). CT-scan is more practical, cheaper, widely available, and can assess the anatomical condition of the brain and ventricles, but MRI is the best modality and superior to CT. It can assess the anatomic conditions better, changes in white matter, and the presence of flow-void sign. Radiological signs of INPH are the presence of ventriculomegaly with Evan's index &gt; 0.3, z-EI &gt; 0.42, the presence of DESH (Disproportionately Enlarged Subarachnoid Space Hydrocephalus), cingulate sign, callosal angle &lt;90°

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.

Tubulinopathies refer to conditions caused by genetic variants in isotypes of tubulin resulting in defective neuronal migration. Historically, diagnosis was primarily via postnatal imaging. Our objective was to establish the prenatal phenotype/genotype correlations of tubulinopathies identified by fetal imaging. A large, multicenter retrospective case series was performed across nine institutions in the Fetal Sequencing Consortium. Demographics, fetal imaging reports, genetic screening and diagnostic testing results, delivery reports, and neonatal imaging reports were extracted for pregnancies with a confirmed molecular diagnosis of a tubulinopathy. Nineteen pregnancies with a fetal tubulinopathy were identified. The most common prenatal imaging findings were cerebral ventriculomegaly (15/19), cerebellar hypoplasia (13/19), absence of the cavum septum pellucidum (6/19), abnormalities of the corpus callosum (6/19), and microcephaly (3/19). Fetal MRI identified additional central nervous system features that were not appreciated on neurosonogram in eight cases. Single gene variants were reported in TUBA1A (13), TUBB (1), TUBB2A (1), TUBB2B (2), and TUBB3 (2). The presence of ventriculomegaly with cerebellar abnormalities in conjunction with additional prenatal neurosonographic findings warrants additional evaluation for a tubulinopathy. Conclusive diagnosis can be achieved by molecular sequencing, which may assist in coordination, prognostication, and reproductive planning.

Frequency Of Spinal Defects in Fetuses with Ventriculomegaly

Fetal ventriculomegaly (VM) is a dilation of the lateral ventricle. Different patients have different etiologies for fetal ventriculomegaly, which can be idiopathic, structural, or chromosomal. A measurement of 10–15 mm is commonly referred to as mild ventriculomegaly, while measurements of 15–20 and &gt;20 mm and above are defined as moderate and severe ventriculomegaly. Objective: To find the frequency of spinal defects (SD) in fetuses with ventriculomegaly (VM). Methods: It was a cross-sectional analytical study which included 103 pregnant ladies who had evidence of ventriculomegaly visited multiple centers during research period. Convenient sampling method was used. The presence of ventriculomegaly was confirmed using transabdominal probe with frequency 3-5 MHz. Frequency was calculated and crosstabs were made using SPSS version 21.0. Results: Among 103 pregnant patients, frequency of fetal spinal defects was 25.2%. Frequency of ventriculomegaly was as follow: mild ventriculomegaly 43.7%, moderate ventriculomegaly 31.2%, and severe ventriculomegaly 25.2%. Among 103 patients, 25.2% patients had AFI greater than 21. Frequency of mother's H/O any fetal spinal defects in their previous pregnancies was 15.5%. Conclusions: The study concluded that frequency of spinal defects in fetuses with ventriculomegaly was 25.2% and spinal defects occur in those patients who had severe ventriculomegaly (&gt;20mm) and had AFI greater than 25

Differential diagnosis of dementia in idiopathic normotensive hydrocephalus

Idiopathic normotensive hydrocephalus (iNPH) is a disease that affects the elderly, characterized by the classic triad of gait apraxia, urinary incontinence, and minor cognitive impairment or dementia, and cerebral imaging scans show the presence of ventriculomegaly and normal fluid pressure in the fluid c normal puncture. This disease must be in the list of differentiated diagnosis of patients presenting with the above manifestations. If the diagnosis of iNPH is confirmed, it should be treated at an early stage.

Management of ventriculomegaly in pediatric patients with syndromic craniosynostosis: a single center experience.

Management of ventriculomegaly in pediatric patients with syndromic craniosynostosis (SC) requires understanding the underlying mechanisms that cause increased intracranial pressure (ICP) and the role of cerebrospinal fluid (CSF) in cranial vault expansion in order to select the best treatment option for each individual patient. A total of 33 pediatric patients with SC requiring craniofacial surgery were retrospectively evaluated. Cases of nonsyndromic craniosynostosis and shunt-induced craniosynostosis were excluded. Six syndrome-based categories were distinguished: Crouzon syndrome, Pfeiffer syndrome, Apert syndrome, cloverleaf skull syndrome, and others (Muenke syndrome, Sensenbrenner syndrome, unclassified). All of the patients were treated surgically for their cranial deformity between 2010 and 2016. The presence of ventriculomegaly and ventriculoperitoneal (VP) shunt requirement with its impact in cranial vault expansion were analyzed. Clinical and neuroimaging studies covering the time from presentation through the follow-up period were revised. The mean postoperative follow-up was 6years and 3months. A systematic review of the literature was conducted through a PubMed search. Of the total of 33 patients with SC, 18 (54.5%) developed ventriculomegaly and 13 (39.4%) required ventriculoperitoneal (VP) shunt placement. Six patients (18.2%) required shunt placement previous to craniofacial surgery. Seven patients (21.2%) required a shunt after craniofacial surgery. Seven fixed pressure ventriculoperitoneal shunts and six programmable valves were placed as first choice. All patients improved their clinical symptoms after shunt placement. Aesthetic results seemed to be better in patients with programmable shunts. Unless clear criteria for overt hydrocephalus are present, it is recommended to perform craniofacial surgery as a first step in the management of patients with SC in order to preserve the expansive effect of CSF for cranial vault expansion. In our experience, the use of externally programmable valves allows for the treatment of hydrocephalus while maintaining the expansive effect of CSF for the remodeling of the cranial vault. Prospective evaluations are needed to determine causality.

58. CLINICAL PRESENTATION AND IMAGING CHARACTERISTICS OF LEPTOMENINGEAL CARCINOMATOSIS (LC) IN PATIENTS WITH EGFR MUTATED NON-SMALL CELL LUNG CANCER (NSCLC)

BACKGROUNDLC is a late and often fatal manifestation of advanced EGFR mutated NSCLC with up to 9% of patients developing LC. Given the higher incidence of LC in EGFR mutated tumors, we hypothesized it may have unique imaging and clinical characteristics.METHODSWe identified 23 patients with EGFR mutated NSCLC and LC treated at a large academic institution between 2016 and 2019. Clinical and treatment characteristics were obtained from the electronic medical record. Radiographic subtype of LC and presence of ventriculomegaly were determined by independent review of available brain and spine MRI imaging.RESULTSAmong 23 eligible patients, mean age was 57 years, 96% had advanced NSCLC at diagnosis and 61% had EGFR exon 19 deletion. Median time from NSCLC diagnosis to LC development was 23 months (95% CI:13–33), with only 17% of patients presenting with LC in the absence of parenchymal brain metastases. Of the 91% of patients with radiographic evidence of LC, equal numbers had nodular or linear LC (22% each) and 39% had a mixed presentation. Additionally, 30% of patients had evidence of spinal LC. Ventriculomegaly was present in 52% of patients, with 48% developing clinical symptoms of hydrocephalus and 13% receiving shunt placement. Median overall survival (OS) from time of LC diagnosis was 3.9 months (95% CI:2.7–10.0), which is lower than in prior published studies. Patients with nodular LC and absence of ventriculomegaly fared better with a median OS of 6.5 months and 5.7 months respectively.CONCLUSIONSOS is poor in patients with LC associated with EGFR mutated NSCLC, although appears better in patients with nodular LC. The high incidence of hydrocephalus emphasizes the need for its early recognition and treatment. Further studies are needed to identify promising treatment strategies and to determine factors associated with improved OS in this population.

Atlantoaxial Subluxation Secondary to Unstable Os Odontoideum in a Patient With Arrested Hydrocephalus Due to Congenital Aqueductal Stenosis: A Case Report.

In a small percentage of children born with congenital hydrocephalus, enlargement of the head and the presence of ventriculomegaly may halt and ultimately stabilize the condition designated as arrested hydrocephalus. Arrested hydrocephalus in children is typically due to congenital aqueduct stenosis, which can be described appropriately as a stasis existing within the channel between the third and fourth ventricles. Os odontoideum (OO) is an uncommonly occurring pathology at the craniovertebral junction. Although the clinical and radiologic features of its existence and the therapeutic options for its pathology have been widely discussed within the medical literature, its true etiology has been a source of divisive debate, proposing both a traumatic as well as a congenital mechanism. The etiology of OO has been heartily debated in the literature for several years as well. Most authors have come to support a posttraumatic causality. However, strong evidence exists to support a congenital origin to this rarely observed malformation. Within this case study we present a 24-year-old woman with atlantoaxial subluxation that exists secondary to an orthotropic OO. The patient had a history of arrested hydrocephalus due to congenital aqueductal stenosis beginning in early childhood. She presented with normal intelligence and was neurologically without deficits before the occurrence of an atlantoaxial dislocation. Unfortunately, the pathology was initially misdiagnosed as a decompensation state of the arrested hydrocephalus, and after 8 months the patient became wheelchair bound. Following this unfortunate event the correct diagnosis was ultimately uncovered. Subsequently a C2-1 instrumentation procedure resulted in excellent alignment and fusion. To the best of our knowledge, this is the first example of an aqueduct stenosis in the setting of an existing OO, a combination that might be another clue in favor of a congenital etiology.

Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.

Pyruvate dehydrogenase deficiency (PDHD) and pyruvate carboxylase deficiency (PCD) are diseases with severe neonatal forms, and their low prevalence makes them difficult to diagnose during pregnancy. Our objective was to describe prenatal ultrasound features that may be suggestive of these diagnoses. We analyzed 3 cases from our institution and reviewed 12 published cases of PDHD and 6 cases of PCD, recording all of the ultrasound signs, as well as magnetic resonance findings when available. Because of the small number of cases of PCD, we also included postnatal signs that could have been observed during imaging during pregnancy, for a total of 11 cases of PCD. We conclude that PDHD can be suggested in the presence of ventriculomegaly or paraventricular cysts, associated with an abnormality of the cerebral parenchyma such as abnormal gyration or involvement of the corpus callosum. Pyruvate carboxylase deficiency can be suggested in the presence of ventriculomegaly, frontal horn impairment associated with subependymal, and paraventricular cysts. When confronted to the ultrasound abnormalities we described, and after eliminating the most frequent etiologies, a metabolic deficiency should be considered. Furthermore, the hereditary character of these diseases makes that it is important to send the family with genetic advice in particular in case of history of a fetal death in utero or a death neonatal unexplained.

Outcome of Fetuses With Cerebral Ventriculomegaly and Septum Pellucidum Leaflet Abnormalities

The objective of this study was to assess the outcomes of the prenatal diagnosis of septal leaflet abnormalities in fetuses referred for prenatal imaging with a finding of ventriculomegaly. This study is a retrospective review of fetuses with a diagnostic code of septal leaflet abnormalities from a larger prospective study. Four hundred twenty-five pregnant women with 433 fetuses referred for ventriculomegaly were imaged with ultrasound and MRI between July 1, 2003, and May 15, 2009. Four to six radiologists independently reviewed sonographic and MR images and recorded lateral ventricular diameters at the atrium and frontal horns, ventricular configuration, and the presence of ventriculomegaly and of other CNS abnormalities. Final prenatal ultrasound, MRI, and overall diagnoses were decided by consensus. Fetuses with a diagnostic code of septal leaflet abnormalities were identified, and birth outcome, autopsy findings, postnatal imaging, and postnatal follow-up examinations were obtained. The analysis of covariance, controlling for gestational age, was used to compare ventricular dimensions between fetuses with septal leaflet abnormalities and fetuses with isolated ventriculomegaly. Interrater agreement for the detection of septal leaflet abnormalities was assessed with kappa statistics. Interrater agreement and intrarater agreement for frontal horn measurements were assessed by variance components analysis. Twenty-three fetuses had septal leaflet abnormalities and 229 had isolated ventriculomegaly. Atrial and frontal horn diameters, adjusted for gestational age, were 77% and 98% larger, respectively, in fetuses with septal leaflet abnormalities than in fetuses with isolated ventriculomegaly (p < 0.0001). Before the consensus conference, agreement among ultrasound readers was moderate (κ = 0.54) and among MR readers, good (κ = 0.69). Additional CNS findings were seen on MRI in 12 of 23 fetuses (52%). Eleven pregnancies with septal leaflet abnormalities underwent termination and 12 progressed to livebirth; of the 12 livebirths, three neonates died. Neurodevelopmental follow-up was abnormal in all surviving children. A septal leaflet abnormality in the setting of ventriculomegaly is most frequently associated with other CNS abnormalities and is associated with postnatal developmental delay.

Frequency and cause of disagreements in imaging diagnosis in children with ventriculomegaly diagnosed prenatally

To assess the frequency and cause of variability in diagnosis on cranial sonography and magnetic resonance imaging (MRI) in children referred following prenatal diagnosis of ventriculomegaly. Between 19 September 2003 and 16 March 2007, 119 infants with ultrasound and/or MRI studies performed within 13 months (median, 6 days) after birth, following prenatal referral for ventriculomegaly, were studied prospectively. There were 97 infants with ultrasound results and 53 with MRI, including 31 with both. Three sonologists and three pediatric neuroradiologists interpreted the postnatal ultrasound and MRI findings, blinded to prenatal diagnosis, and a final consensus diagnosis or group of diagnoses was obtained. Ventricular sizes as well as types of and reasons for any disagreement in diagnosis were recorded. Disagreements on a per patient basis were categorized as being major when they crossed diagnostic categories and had the potential to change patient counseling. Postnatal and prenatal diagnoses were compared. There was prospective agreement on 42/97 (43%) ultrasound and on 9/53 (17%) MRI readings. Prospective consensus was more likely when the number of central nervous system (CNS) anomalies was lower (P < 0.001 and P = 0.002 for ultrasound and MRI, respectively). In 24/55 (44%) ultrasound and 11/44 (25%) MRI examinations with disagreement in diagnosis, there was disagreement concerning the presence of ventriculomegaly. In 22/97 (23%) ultrasound studies and 22/53 (42%) MRI studies the disagreements were potentially important. Reasons for discrepancies in the reporting of major findings included errors of observation as well as modality differences in depiction of abnormalities. In comparing prenatal with postnatal diagnoses, there were 11/97 (11%) ultrasound and 27/53 (51%) MRI examinations with newly detected major findings, the most common being migrational abnormalities, callosal dysgenesis/destruction and interval development of hemorrhage. Variability in postnatal CNS diagnosis is common after a prenatal diagnosis of ventriculomegaly. This is due in part to a lack of standardization in the definition of postnatal ventriculomegaly.

Gait disorders of multi-infarct dementia. CT and clinical correlation.

Twenty-five patients with various types of gait disorders of multi-infarct dementia (MID) were reported. The types of gait disorders consisted of lower body parkinsonism (LBP) plus ataxia (6 patients), LBP plus apraxia (5 patients), and a combination of LBP plus ataxia and apraxia (14 patients). Hypertension occurred in 23 (92%) of the 25 patients. Nevertheless, individual stroke risk factors and the locations of infarcts were not significantly different between the subgroups. Ventriculomegaly and "leuko-araiosis" as demonstrated by computed tomography occurred in more than 80% of patients in each subgroup. Atrophy of the superior vermis was seen in 16 (80%) of 20 patients with ataxia as compared to 2 (40%) of the 5 patients without ataxia (p < 0.005). These data suggest that LBP and apraxia of MID were probably determined by the presence of ventriculomegaly or leuko-araiosis or both, and the presence of ataxic component of gait disorder most probably indicates the presence of vermian atrophy.

Frequency and Cause of Disagreements in Diagnoses for Fetuses Referred for Ventriculomegaly

To prospectively assess the frequency and cause of disagreements in diagnoses at ultrasonography (US) and magnetic resonance (MR) imaging for fetuses referred for ventriculomegaly (VM). One hundred ninety-five women, aged 18-44 years, with 200 fetal referrals for VM, were recruited in a prospective IRB-approved, HIPAA-compliant study. Written informed consent was obtained. US scans were prospectively interpreted by three obstetric radiologists and MR examinations were read by one obstetric radiologist and three pediatric neuroradiologists. Final diagnosis was reached by consensus (198 US, 198 MR, and 196 US-MR comparisons). Gestational age, ventricular size, types of disagreements, and reasons for disagreements were recorded. Interreader agreement was assessed with kappa statistics. Ventricular diameter, gestational age, and confidence scores were analyzed by using mixed-model analysis of variance, accounting for correlation within reader and fetus. There was prospective agreement on 118 (60%) of 198 US and 104 (53%) of 198 MR readings. Consensus was more likely when the final diagnosis was isolated VM (83 of 104, 80% at US; 82 of 109, 75% at MR) than when the final diagnosis included other anomalies as well (14 of 63, 22% at US; seven of 68, 10% at MR; P < .001). There was disagreement on 19 (10%) of 196 and 31 (16%) of 196 fetuses about the presence of VM at US and MR, respectively, and on 29 (15%) of 198 and 39 (20%) of 198 fetuses regarding the presence of major findings at US and MR, respectively. Reasons for discrepancies in reporting major findings included errors of observation, lack of real-time US scanning, lack of neuroradiology experience, as well as modality differences in helping depict abnormalities. Of radiologists who read high-risk obstetric US and fetal MR images for VM, there is considerable variability in central nervous system diagnosis.

Rhombencephalosynapsis: prenatal imaging and autopsy findings

Rhombencephalosynapsis is a rare, but increasingly recognized, brain malformation characterized by congenital fusion of the cerebellar hemispheres and absence of the vermis. Rhombencephalosynapsis is associated with significant developmental delay, seizures and involuntary head movements. We report four cases, with correlation of prenatal and postnatal imaging and autopsy findings. Over a 2-year period, four cases of rhombencephalosynapsis were diagnosed in the perinatal period, three in one center and one in another center. The clinical cases were reviewed, and correlation was made between the prenatal and postnatal imaging and autopsy findings where available. All cases presented initially with ventriculomegaly on prenatal ultrasound examination. Subsequent magnetic resonance imaging (MRI) established the diagnosis in two cases and postnatal MRI established the diagnosis in a further two cases. Autopsy was available and confirmed the diagnosis in two cases. In one case the pregnancy was terminated, two infants died in the neonatal period and one died in infancy. The cases in this perinatal series of rhombencephalosynapsis showed a very poor prognosis. The presence of ventriculomegaly on prenatal ultrasound imaging should alert the physician to consider rhombencephalosynapsis in the differential diagnosis. MRI appears to be the imaging modality of choice in establishing the diagnosis.

Antenatal ultrasound and magnetic resonance imaging in localizing the level of lesion in spina bifida and correlation with postnatal outcome

To compare prenatal ultrasonography and magnetic resonance imaging (MRI) in the diagnosis of spina bifida with postnatal MRI/surgical findings and to study the postnatal outcome in relation to the level of lesion and head signs on antenatal imaging. A retrospective study of babies referred to a tertiary neurosurgical unit with a diagnosis of spina bifida in the years 2000-2002 was performed. The levels of lesions and head signs diagnosed using antenatal ultrasonography and MRI were compared with postnatal MRI and operative findings. The levels of lesions and head signs diagnosed pre- and postnatally were used to study the correlation with neurological outcome at a mean follow-up period of 12 months. Twelve antenatally diagnosed and five postnatally diagnosed cases of spina bifida were seen. The level of lesion as identified by antenatal ultrasound correlated with that observed postnatally in 8/12 cases and the antenatal ultrasound diagnosis of ventriculomegaly was confirmed postnatally in all cases. The level of lesion as identified by antenatal MRI correlated with that observed postnatally in 4/8 cases (50%) and the antenatal MRI diagnosis of ventriculomegaly was confirmed postnatally in 5/8 (63%) cases. 12/17 babies were found to have residuals in the immediate postnatal urodynamic studies, of which 83% (n = 10) required intermittent catheterization of the bladder at 12 months of age. Low spinal lesions were associated with increased bladder morbidity when compared to high spinal lesions (8/10 vs. 4/7, P < 0.05) (odds ratio (OR) = 10.0; 95% CI, 1.05-95.01). The level of spinal lesion and the presence of ventriculomegaly did not have any statistically significant correlation with motor functions, morbidity and developmental milestones. Antenatal ultrasonography is a good tool in the diagnosis of spina bifida. We could not demonstrate any advantage of antenatal MRI over ultrasonography. There is better correlation of ultrasonography than MRI with postnatal MRI/operative findings in terms of level of lesion and head signs. Low spinal lesions appear to be associated with increased bladder morbidity.

The significance of cerebral mantle thickness in fetal ventriculomegaly at autopsy

To confirm the validity of the method of diagnosing fetal ventriculomegaly at autopsy by measuring cerebral mantle thickness at the frontal lobe and to further evaluate whether taking three measurements at three separate sites is even more reliable. The thickness of the cerebral mantle was measured at three sites: the frontal lobe, posterior-frontal lobe and occipital lobe, in 10 human fetuses which were clinically diagnosed by ultrasound to have ventriculomegaly, and in 120 control fetuses. Most fetuses were obtained during the second trimester. The mantle thicknesses were charted against foot length and crown-rump length in each case. Fetal cerebral mantle thickness was reduced in the three sites examined in eight of ten fetuses with a pre-autopsy diagnosis of ventriculomegaly. The mantle thickness was in the normal range in a growth-restricted fetus of 19 weeks gestational age with trisomy 21, mild ventriculomegaly, hydrops and cerebral oedema, when correlated with crown-rump and foot lengths. In a 32-week growth-retarded fetus with a prenatal ultrasound diagnosis of ventriculomegaly, cerebral mantle thickness was also within the normal range relative to crown-rump and foot lengths. Measurement at autopsy of cerebral mantle thickness is a reproducible and reliable method of confirming the diagnosis of ventriculomegaly in second trimester fetuses. Fetal cerebral mantle thickness measurement taken at the three sites must be correlated with crown-rump and foot length. In most cases where ventriculomegaly was established, the mantle thickness was reduced in fetuses in all three sites examined. The relative thickness of the cerebral mantle in different areas was often abnormal in the presence of ventriculomegaly. Our study of small numbers of cases also suggested that the method of measurement may not be reliable in some cases where there is only mild ventriculomegaly, cerebral oedema or growth retardation.

Chronology of neurological manifestations of prenatally diagnosed open neural tube defects

Objective: To evaluate the incidence and chronology of sonographic markers of neurological compromise in prenatally diagnosed neural tube defects.Methods: We reviewed our ultrasounddatabase from 1988 to 1999 to identify all cases of prenatally diagnosed neural tube defects. All patients received an initial detailed targeted ultrasound evaluation with subsequent evaluations every 4-6weeks. Cases involving multiple congenital anomalies, aneuploidy, or inadequate follow-up were excluded. Specific ultrasound markers assessed included the presence of ventriculomegaly (> 10 mm) and clubfoot.Results: Forty-seven cases of neural tube defects were identified over the study interval. After exclusions, 42 cases were available for evaluation. The overall incidence of ventriculomegalyand clubfoot in the study cohort was 86% and 38%, respectively. In the 33 patients with initial ultrasound examination performed at < 24 weeks' gestation, 76% (25/33) had evidence of ventriculomegalyand 30% (10/33) and clubfoot. Only 9% (1/11) of the patients managed expectantly developed evidence of ventriculomegaly and 3/11 (27%) developed clubfoot from the time of the initial ultrasound examinationto delivery.Conclusions: Ultrasound markers of neurological compromise are early and frequent findings associated with fetal neural tube defects. Development of ventriculomegaly is an uncommonoccurrence later in gestation, while the risk for developing clubfoot appears to increase as gestation progresses.

Imaging as a tool in exploring the neurodevelopment and genetics of schizophrenia.

Neuroimaging has enabled us to address questions about the timing and origin of brain abnormalities in schizophrenia. First episode and longitudinal computed tomography (CT) and magnetic resonance imaging (MRI) studies of schizophrenic patients have shown that the brain abnormalities are present at onset of psychosis and are non-progressive. Such findings support the idea that schizophrenia is a developmental rather than a degenerative condition. Furthermore, the presence of ventriculomegaly and diminished hemispheric asymmetry in familial schizophrenics and in those of their relatives who appear to be transmitting the disorder, implies involvement of the genes controlling neurodevelopment. However, genetic factors do not fully account for the development of schizophrenia; early environmental insults such as obstetric complications are also important and may interact with genetic predisposition. Brain development continues postnatally and profound maturational events also occur in adolescence and early adulthood. Magnetic resonance spectroscopy (MRS) studies allow the investigation of the developmental biochemistry of the living brain and are being used to explore the role of maturational brain events in determining the onset of psychosis.

ULTRASONOGRAPHIC IMAGING OF THE LATERAL CEREBRAL VENTRICLES IN THE DOG

Ultrasonography was effectively used to evaluate lateral cerebral ventricles in 28 dogs with persistent fontanelles. There was a significant incidence of ventriculomegaly in miniature and brachycephalic breeds. No relationship was found between the size and the fontanelle and the presence or size of ventriculomegaly. A significant relationship was found between the presence of a fontanelle and the presence of ventriculomegaly. There was no statistically significant relationship found between the presence of clinical signs and ventricular size.