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Karina Krajden Haratz, Sharon Leshem Shulevitz, Zvi Leibovitz, Dorit Lev, Shalev Josef, Mordechai Tomarkin, Gustavo Malinger, Tally Lerman-Sagie, Liat Gindes
OBJECTIVE: Prenatal diagnosis of midbrain-hindbrain malformations rely primarily on abnormal size and shape of the cerebellum and retrocerebellar space. The aim of this study was to present the 4th ventricle index (4VI), and to evaluate its role as a marker of severe vermian dysgenesis / agenesis cases without an open 4th ventricle (4v). METHODS: This prospective cross-sectional study included 384 healthy fetuses between 14 to 37 gestational weeks. Axial images of the 4v were obtained and the 4VI was calculated as the ratio between the latero-lateral and anteroposterior diameters...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
Priya D Shanmugarajah, Nigel Hoggard, Daniel P Aeschlimann, Pascale C Aeschlimann, Gary J Dennis, Stephen J Howell, Markus Reuber, Richard A Grünewald, Marios Hadjivassiliou
PURPOSE: Phenytoin is an effective anticonvulsant for focal epilepsy. Its use can be associated with long-term adverse effects including cerebellar ataxia. Whilst phenytoin is toxic to Purkinje cells in vitro; the clinical and radiological phenotype and mechanism of cerebellar degeneration in vivo remain unclear. We describe the prevalence, clinical and radiological characteristics of phenytoin-related ataxia. METHODS: Patients with epilepsy receiving treatment with phenytoin were recruited from the Epilepsy clinics at Royal Hallamshire Hospital, Sheffield, UK...
February 2, 2018: Seizure: the Journal of the British Epilepsy Association
James A Balogun, Nurudeen A Adeleke, Ayodeji O Salami, Timothy O Odebode
INTRODUCTION: Epidermoid tumors are rare benign slow growing congenital tumours, most frequently located in the cerebellopontine angle of the intracranial cavity. They usually assume large sizes before patients become symptomatic. Though amenable to surgery, their adherence to neurovascular structures poses a surgical challenge that results in subtotal resection thus increasing the risk of recurrence. CASE DESCRIPTION: We report two adult patients whose imaging studies revealed epidermoid tumors located in the cerebellar vermis; an uncommon site for such tumors...
January 30, 2018: World Neurosurgery
Zvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, Shani Ben Harouch, David Savitzki, Karina Krajden-Haratz, Liat Gindes, Mordechai Tamarkin, Dorit Lev, William B Dobyns, Tally Lerman-Sagie
OBJECTIVES: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family. METHODS: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation. RESULTS: The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia)...
December 26, 2017: European Journal of Paediatric Neurology: EJPN
Emil Jernstedt Barkovich, Tarannum Musvee Lateef, Matthew T Whitehead
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population...
January 1, 2017: Neuroradiology Journal
Hasan R Syed, Walter C Jean
OBJECTIVE: There is no standard way to define the angle of the tentorium. The current trend to use the Twining line to define this angle has significant pitfalls. The goal of the current study is to provide a new and accurate way to measure the "tentorial angle," and demonstrate its impact on surgeries of the pineal region. METHODS: A new technique (n-angle) to measure the tentorial angle is introduced using the floor of the fourth ventricle and the torcula. Comparisons to older techniques were made to illustrate reliability...
December 16, 2017: World Neurosurgery
Thiébaud Picart, Marc Barritault, Julien Berthillier, David Meyronet, Alexandre Vasiljevic, Didier Frappaz, Jérôme Honnorat, Emmanuel Jouanneau, Delphine Poncet, François Ducray, Jacques Guyotat
Adult cerebellar glioblastomas (cGBM) are rare and their characteristics remain to be fully described. We analyzed the characteristics of 17 adult patients with cGBM and compared them to a series of 103 patients presenting a supra-tentorial glioblastoma (stGBM). The mean age at GBMc diagnosis was 53.4 years (range 28-77). A history of neurofibromatosis type I was noted in 3 patients. cGBM were hemispheric in 10 patients (58.8%), only vermian in 4 patients (23.5%), and both vermian and hemispheric in 3 patients (17...
February 2018: Journal of Neuro-oncology
In Sung Park, Nam Joon Lee, Im Joo Rhyu
The cerebellum plays vital roles in balance control and motor learning, including in saccadic adaptation and coordination. It consists of the vermis and two hemispheres and is anatomically separated into ten lobules that are designated as I-X. Although neuroimaging and clinical studies suggest that functions are compartmentalized within the cerebellum, the function of each cerebellar lobule is not fully understood. Electrophysiological and lesion studies in animals as well as neuroimaging and lesion studies in humans have revealed that vermian lobules VI and VII (declive, folium, and tuber) are critical for controlling postural balance, saccadic eye movements, and coordination...
September 28, 2017: Journal of Clinical Neurology
Tun-Jun Wang, Yi-Ying Li, Wan-Ju Wu, Chi-Kang Lin, Chun-Kai Wang, Chen-Yu Wang, Kwei-Shuai Hwang, Her-Young Su
OBJECTIVE: Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low. CASE REPORT: A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
Brian J Dlouhy, Jeffrey D Dawson, Arnold H Menezes
OBJECTIVE The pathophysiology underlying tonsillar herniation and CSF obstruction in Chiari malformation Type I (CM-I) is unclear, and the cause of CM-I-associated syringomyelia is not well understood. A better understanding of this pathophysiology is important for an improved treatment strategy. Therefore, the authors sought to identify, characterize, and examine the intradural pathology and CSF flow pathophysiology in the posterior fossa and at the level of the foramen magnum that occurs in the setting of CM-I...
December 2017: Journal of Neurosurgery. Pediatrics
G Heimer, E Eyal, X Zhu, E K Ruzzo, D Marek-Yagel, Doron Sagiv, Y Anikster, H Reznik-Wolf, E Pras, D Oz Levi, D Lancet, B Ben-Zeev, A Nissenkorn
BACKGROUND: AIFM1 encodes a mitochondrial flavoprotein with a dual role (NADH oxidoreductase and regulator of apoptosis), which uses riboflavin as a cofactor. Mutations in the X-linked AIFM1 were reported in relation to two main phenotypes: a severe infantile mitochondrial encephalomyopathy and an early-onset axonal sensorimotor neuropathy with hearing loss. In this paper we report two unrelated males harboring AIFM1 mutations (one of which is novel) who display distinct phenotypes including progressive ataxia which partially improved with riboflavin treatment...
September 15, 2017: European Journal of Paediatric Neurology: EJPN
Yosef Laviv, Isabelle M Germano, Anand Mahadevan, Ekkehard M Kasper
Ependymomas of the posterior fossa in adults are relatively rare, represent less than 1% of adult intracranial gliomas. Most of the cases are WHO grade II. Due to their rarity, there are no randomized studies regarding the best management of these tumors. It seems that surgical resection has a major role in their management. Unlike the scenario in children, these tumors can be cured by gross total resection without adjuvant therapy in the majority of cases. Hence, knowing the different surgical approaches, with their pros and cons, is important in order to offer the patient the best treatment...
September 22, 2017: Journal of Neurosurgical Sciences
Ting Lei, Jie-Ling Feng, Ying-Jun Xie, Hong-Ning Xie, Ju Zheng, Mei-Fang Lin
OBJECTIVE: To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS: This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. RESULTS: Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia...
September 20, 2017: Prenatal Diagnosis
Shaimaa Abdelsattar Mohammad, Heba Salah Abdelkhalek
PURPOSE: The purpose of this study was to explore brain abnormalities in nonketotic hyperglycinemia (NKH) using diffusion-weighted imaging (DWI) and when feasible, diffusion tensor imaging (DTI) and tractography. METHODS: Seven patients with confirmed diagnosis of NKH (8 days-2 years) underwent brain MRI. Conventional T1 and T2WI were acquired in all patients, DWI in six and DTI and tractography in two (4 months and 2 years). Measurements of fractional anisotropy (FA), radial diffusivity (RD), axial diffusivity (AD) and Trace from eight white matter regions were compared between the two patients and age-matched controls...
November 2017: Neuroradiology
Gregor O Dovjak, Peter C Brugger, Gerlinde M Gruber, Jae W Song, Michael Weber, Georg Langs, Dieter Bettelheim, Daniela Prayer, Gregor Kasprian
OBJECTIVES: To optimize the imaging assessment of fetal hindbrain malformations, this observational MRI study aimed to provide quantitative biometric data in normal vermian development in human fetal brains in vivo. METHODS: In this retrospective, review board approved study, 78 fetuses (18-32 gestational weeks (GW)) scanned prenatally at 1.5T, and seven fetuses (16-30GW), scanned within 24 hours post-mortem at 3T,were included. All fetal brains were segmented on a T2-weighted midline sagittal slice...
August 6, 2017: Ultrasound in Obstetrics & Gynecology
Rouzbeh Motiei-Langroudi, Christoph J Griessenauer, Abdulrahman Y Alturki, Paul H Chapman, Christopher S Ogilvy, Ajith J Thomas
OBJECTIVES: Arteriovenous malformations (AVMs) of the superior cerebellar vermis and dural arteriovenous fistulas (dAVFs) draining into tentorial venous structures are uncommon lesions. Various surgical approaches and positions have been used to gain access. METHODS: We present our experience with 10 superior vermian AVMs and 3 dAVFs with retrograde transverse sinus or torcular drainage, each resected through a supracerebellar infratentorial approach in the park bench position with modification of the neck and head position (vertex tilt-up instead of down)...
October 2017: World Neurosurgery
San Y C V Pols, Marie Lise C van Veelen, Femke K Aarsen, Antonia Gonzalez Candel, Coriene E Catsman-Berrevoets
OBJECTIVE Postoperative cerebellar mutism syndrome (pCMS) occurs in 7%-50% of children after cerebellar tumor surgery. Typical features include a latent onset of 1-2 days after surgery, transient mutism, emotional lability, and a wide variety of motor and neurobehavioral abnormalities. Sequelae of this syndrome usually persist long term. The principal causal factor is bilateral surgical damage (regardless of tumor location) to any component of the proximal efferent cerebellar pathway, which leads to temporary dysfunction of cerebral cortical regions as a result of diaschisis...
July 2017: Journal of Neurosurgery. Pediatrics
Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Naruto, Kenji Kurosawa, Chihiro Ohba, Toshifumi Suzuki, Hirotomo Saitsu, Tomohide Goto, Naomichi Matsumoto
PURPOSE: Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations. MATERIALS AND METHODS: Neuroimaging findings in five JBTS patients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on T1-magnetization prepared rapid gradient echo (MPRAGE), T2-weighted images, and color-coded fractional anisotropy (FA) maps; the findings were compared to those in four JBTS patients with mutations in other genes (including three with AHI1 and one with TMEM67 mutations)...
May 15, 2017: Journal of the Neurological Sciences
Anja Wüest, Daniel Surbek, Roland Wiest, Christian Weisstanner, Harald Bonel, Maja Steinlin, Luigi Raio, Boris Tutschek
INTRODUCTION: The primary aim of this study was to ascertain the prevalence of the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa (PF) and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the postnatal outcome of children affected by PF anomalies. MATERIAL AND METHODS: All fetuses with enlarged PF detected by prenatal sonography at a referral center from 2001 to 2015 were analyzed retrospectively...
July 2017: Acta Obstetricia et Gynecologica Scandinavica
Waleed Brinjikji, Kelly D Flemming, Giuseppe Lanzino
The authors report a case of a developmentally normal child with a congenital complex torcular dural arteriovenous fistula (DAVF) who later, in his teenage years, developed several vermian cavernomas within a large cerebellar developmental venous anomaly (DVA). The patient had initially presented with an abnormally large head circumference but no neurological deficits. He underwent several partial embolization procedures in an attempt to decrease the blood supply of the fistula over the course of 8 years. Nine years following initial presentation, he presented with a fourth ventricular hemorrhage, due to development of a new vermian cavernoma adjacent to a previously known vermian DVA and suffered subsequent mild left-sided hemiataxia from which he later recovered...
May 2017: Journal of Neurosurgery. Pediatrics
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