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Neuroradiology Sep 2018In this paper, I will report the range of appearances of schizencephaly in children and fetuses by reviewing a 10-year experience from a single centre and detail...
PURPOSE
In this paper, I will report the range of appearances of schizencephaly in children and fetuses by reviewing a 10-year experience from a single centre and detail classification systems for the different forms of schizencephaly. This will lead to re-assessment of possible aetiological and mechanistic causes of schizencephaly.
METHODS
All cases of pediatric and fetal schizencephaly were located on the local database between 2007 and 2016 inclusive. The studies were reviewed for the presence, location and type of schizencephaly, as well as the state of the (cavum) septum pellucidum, the location of the fornices and the presence of other brain abnormalities.
RESULTS
The review included 21 children and 11 fetuses with schizencephaly. Schizencephaly (type 1) was found in 9% of children but no fetuses, schizencephaly (type 2) was present in 67% of the pediatric cases and in 45% of fetuses, whilst schizencephaly (type 3) was present in approximately 24% of children and 55% of fetuses. Other brain abnormalities were found in 67% of children and 55% of fetuses.
CONCLUSION
I have proposed a new system for classifying schizencephaly that takes into account all definitions of the abnormality in the literature. Using that approach, I have described the appearances and associations of pediatric and fetal cases of schizencephaly from a single centre. Review of the current literature appears to favour an acquired destructive aetiology for most cases of schizencephaly, and I have proposed a mechanism to explain the cortical formation abnormalities found consistently in and around areas of schizencephaly.
Topics: Adolescent; Child; Child, Preschool; Female; Fetal Diseases; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Pregnancy; Schizencephaly
PubMed: 30027296
DOI: 10.1007/s00234-018-2056-7 -
Translational Pediatrics Apr 2021Cranial ultrasound (CUS) is an extremely valuable tool to evaluate the brain during the first year of life, in experienced hands. It is the initial screening imaging... (Review)
Review
Cranial ultrasound (CUS) is an extremely valuable tool to evaluate the brain during the first year of life, in experienced hands. It is the initial screening imaging tool to evaluate the infants' brain and complementary to the use of computed tomography (CT) and magnetic resonance imaging (MRI). It is an accessible, inexpensive and harmless technique that can be used bedside as frequently as needed. The aim of this article is to provide a guide for beginners about the indications, basic technical parameters, scanning technique, standardized planes, common variants and the most frequent abnormal findings visualized with this technique. This article will explain a systematic technique to adequately visualize and document all the relevant intracranial structures, using the anterior fontanelle, mastoid fontanelle and Doppler ultrasound. The variants described in this review include the normal sulcation of the premature baby, the peritrigonal echogenic "blush", lenticulostriate vasculopathy (LSV), benign enlargement of the subrarachnoid space in infancy, asymmetric lateral ventricles, connatal cysts, cavum septum pellucidum (CSP), cavum vergae (CV), cavum velum interpositum, megacisterna magna and choroid plexus cysts. This article will describe the sonographic appearance of different types of intracranial hemorrhage of the preterm and term baby, periventricular leukomalacia (PVL), central and peripheral hypoxic-ischemic events of the term baby, neonatal arterial infarction, cerebro-venous sinus thrombosis, congenital and neonatal cerebral infections, hydrocephalus, intracranial solid and cystic masses, and congenital brain malformations.
PubMed: 34012859
DOI: 10.21037/tp-20-399 -
Frontiers in Neurology 2022A cavum septum pellucidum (CSP) has been reported as a visible brain anomaly in normal individuals as well in some former combat and collision sport athletes. The...
OBJECTIVE
A cavum septum pellucidum (CSP) has been reported as a visible brain anomaly in normal individuals as well in some former combat and collision sport athletes. The appearance of CSP with fenestrations and ventricular enlargement are considered associated features of the neuropathological diagnosis of chronic traumatic encephalopathy. The current study examined CSP anatomic features and lateral ventricle size in retired elite rugby league players and controls.
METHODS
Forty-one retired rugby league players and 41 healthy community controls, similar in age and education, underwent structural MRI scans. CSP grade, CSP length, corpus callosum septal length, and Evans' ratio (for lateral ventricle size) were rated by two of the current study authors. All participants also self-reported concussion exposure histories, depressive symptoms, daytime sleepiness, and impulsivity. They completed a neuropsychological test battery assessing premorbid intellectual functioning, attention, processing speed, language, visuospatial skills, memory, and aspects of executive functioning.
RESULTS
The two raters had high agreement for CSP grade (Cohen's κ = 0.80), CSP length [intraclass correlation (ICC) = 0.99], corpus callosum septal length (ICC = 0.73), the CSP/septal ratio (ICC = 0.99), and the Evans' ratio (ICC = 0.75). Twenty-five retired players (61.0%) had an abnormal CSP compared to 17 controls [41.5%; = 3.12, = 0.08, odds ratio = 2.21]. The CSP/septal ratio was larger for retired players than for the controls. The Evans' ratio did not differ between the two groups. In the retired rugby league players ( = 41), those with normal ( = 16) and abnormal ( = 25) CSP grades did not differ across age, age of first exposure to collision sport, years of sport exposure, concussion history, or 23 clinical and cognitive variables.
CONCLUSION
This study revealed a difference in the size of the CSP between retired professional rugby league players and controls. There was no significant difference in the size of the ventricles between the two groups. There were no significant differences between those with vs. without an abnormal CSP on age of first exposure to rugby league, years of exposure to repetitive neurotrauma, number of lifetime concussions, depression, impulsivity, perceived cognitive decline, or on any neuropsychological test.
PubMed: 35493804
DOI: 10.3389/fneur.2022.817709 -
Journal of Medical Ultrasound 2023This article reviews the literature on different methods of prenatal ultrasound visualization of the optic chiasm (OC) and its applications. Prenatal imaging of the OC... (Review)
Review
This article reviews the literature on different methods of prenatal ultrasound visualization of the optic chiasm (OC) and its applications. Prenatal imaging of the OC is feasible from 19 to 37 weeks of gestation. Evaluation of the OC has been shown crucial in differentiating isolated agenesis of the septum pellucidum from septo-optic dysplasia. Multiple methods can be applied for imaging of the OC, including three-dimensional and two-dimensional ultrasounds in different views, as well as color Doppler. According to the literature, both transabdominal and transvaginal routes produce equally acceptable images. OC visualization might be challenging but can be achieved by developing a standard scanning protocol and raising awareness.
PubMed: 38025017
DOI: 10.4103/jmu.jmu_69_23 -
Eye and Brain 2019Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder belonging to the group of mid-line brain malformations. Despite the highly... (Review)
Review
Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder belonging to the group of mid-line brain malformations. Despite the highly variable phenotypic penetration, its classical triad include a) optic nerve hypoplasia (ONH), b) agenesis of septum pellucidum and corpus callosum, and c) hypoplasia of the hypothalamo-pituitary axis. SOD has stringent diagnostic criteria requiring 2 or more features of the classic triad, therefore it represents a separate entity from other conditions such as ONH and achiasmia syndromes which share only some of these aspects, or SOD plus syndrome which is characterized by additional cortical abnormalities. Starting from its etiology and epidemiology, this narrative review focuses on the management of SOD patients, including their diagnosis, treatment and follow-up. To date, SOD is not curable; nonetheless, many of its symptoms can be improved through a tailored approach, consisting of hormonal replacement, corrective ophthalmological surgery and neuropsychological support.
PubMed: 31695544
DOI: 10.2147/EB.S186307 -
Ultrasound in Obstetrics & Gynecology :... Feb 2022To evaluate the postnatal outcome of children with a prenatal diagnosis of apparently isolated agenesis of the septum pellucidum (ASP). (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To evaluate the postnatal outcome of children with a prenatal diagnosis of apparently isolated agenesis of the septum pellucidum (ASP).
METHODS
A retrospective cohort study of cases of prenatally diagnosed ASP followed in two tertiary centers and a meta-analysis combining data from the cohort study with data from published studies identified in a systematic review were carried out. Only cases with apparently isolated ASP on antenatal ultrasound and/or magnetic resonance imaging and with available postnatal follow-up data were considered eligible for inclusion. The following outcomes were analyzed: incidence of chromosomal anomalies, agreement between antenatal and postnatal findings, overall incidence of septo-optic dysplasia (SOD) and incidence of major neurological disability (motor, language, coordination or behavioral disorder or epilepsy) in non-SOD children. The incidence of SOD in infants with apparently normal optic pathways on antenatal imaging was also evaluated.
RESULTS
Fifteen cases of isolated ASP, with median postnatal follow-up of 36 months (range, 12-60 months), were selected from the two centers. Six previously published studies met the inclusion criteria for the systematic review and a total of 78 cases were eligible for the analysis, including the 15 cases from our series. Genetic tests were carried out antenatally in 30 fetuses, of which two had an abnormal result (pooled proportion, 9.0% (95% CI, 1.8-20.7%); I = 0%). Additional or discordant imaging findings were noted postnatally in 9/70 (pooled proportion, 13.7% (95% CI, 3.5-29.0%); I = 63.9%) cases. Of all 78 neonates with available follow-up, SOD was diagnosed postnatally in 14 (pooled proportion, 19.4% (95% CI, 8.6-33.2%); I = 51.2%). In 60 cases, the optic pathways were considered to be normal on antenatal imaging, and six of these (pooled proportion, 9.1% (95% CI, 1.1-24.0%); I = 62.0%) were diagnosed postnatally with SOD. Of the 46 infants with available neurological follow-up who were not affected by SOD, a major neurological disability was diagnosed in three (pooled proportion, 6.5% (95% CI, 0.5-18.6%); I = 40.1%).
CONCLUSIONS
In the vast majority of cases with a prenatal diagnosis of apparently isolated ASP, the prognosis is favorable. However, an additional anomaly is detected after birth in about 14% of cases and has a negative impact on clinical outcome. Detailed antenatal assessment of the brain and optic pathways is strongly recommended in order to identify the presence of associated anomalies. Antenatal visualization of apparently normal optic pathways does not rule out SOD. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Cohort Studies; Female; Fetus; Humans; Pregnancy; Prenatal Diagnosis; Septo-Optic Dysplasia; Septum Pellucidum; Ultrasonography, Prenatal
PubMed: 34396620
DOI: 10.1002/uog.23759 -
AJNR. American Journal of Neuroradiology 1989The common embryologic origin of the septum pellucidum, of the corpus callosum, and of the limbic system explains the anatomic basis of a varying degree of concurrent... (Review)
Review
The common embryologic origin of the septum pellucidum, of the corpus callosum, and of the limbic system explains the anatomic basis of a varying degree of concurrent involvement of these structures in disease processes, both developmental and acquired. Developmental absence of the septum pellucidum portends a more generalized dysplasia that encompasses the corpus callosum and the limbic system. When considered in this context, it is easy to understand the limbic system dysfunction that is engendered by this anomaly. It is rare for an acquired lesion to involve the septum pellucidum per se because of its small size. However, it is common for it to be secondarily involved in almost all types of acquired disease processes. With the exquisite anatomic morphology that MR now provides, one must carefully assess involvement of the septum pellucidum, of the corpus callosum, and of the limbic system in disease processes that occur in the vicinity of these structures, so that more incisive clinical insight into the functions that are subserved by these structures can be obtained.
Topics: Brain Diseases; Humans; Magnetic Resonance Imaging; Septum Pellucidum
PubMed: 2505543
DOI: No ID Found -
Neuro-ophthalmology (Aeolus Press) 2021A 3-month-old boy was referred for assessment and management of apparently absent ocular globes. Ocular examination showed small orbits with apparently absent globes,...
A 3-month-old boy was referred for assessment and management of apparently absent ocular globes. Ocular examination showed small orbits with apparently absent globes, small conjunctival cul-de-sac, shallow fornices, microblepharon and sunken eyelids. Magnetic resonance imaging of the orbit and brain revealed bilateral extreme microphthalmia, replacement of the optic nerves by disorganised rudimentary tissue tufts, hypoplastic orbits and extraocular muscles, an absent septum pellucidum and an absent corpus callosum. A pituitary hormonal essay showed decreased adrenocorticotropic hormone and thyroid-stimulating hormone. Septo-optic dysplasia has been rarely reported to be associated with microphthalmia. Timely treatment with hydrocortisone and levothyroxine is essential to prevent Addisonian crisis from the stress and pain that may accompany insertion of socket expanders.
PubMed: 34483412
DOI: 10.1080/01658107.2020.1791910