Neurorradiología

Total Page:16

File Type:pdf, Size:1020Kb

Neurorradiología ESPACIO DE NEURORRADIOLOGÍA FETAL MAGNETIC RESONANCE A CONTRIBUTION TO THE DIAGNOSIS OF CENTRAL NERVOUS SYSTEM MALFORMATIONS Nicolás Sgarbi MD, Verónica Etchegoimberry MD RESUMEN ABSTRACT Las malformaciones del sistema nervioso son relativa- Central Nervous System malformations are relatively mente frecuentes e impactan de forma significativa en frequent and have a negative impact in postnatal la morbi-mortalidad postnatal. morbidity and mortality. Su diagnóstico pre-natal se basa en una técnica vali- Prenatal diagnosis is based on the obstetric ultra- dada desde hace varias décadas como es la ecografía sound, which has been validated throughout the years cuyo rendimiento general es excelente. with an excellent performance. En los últimos años se ha producido un cambio sustan- In the last years, there has been a substantial change cial en el paradigma diagnóstico de las malformaciones in the prenatal diagnosis, not only for deciding the no sólo por las implicancias que esto tiene en decidir termination of pregnancy, but also to assess in the la continuidad del embarazo, sino además por el de- opportunity of intrauterine surgery. sarrollo de técnicas de cirugía intrauterina. In this revision we will analyze the most important En esta revisión analizaremos los principales aspectos technical aspects and indications of Fetal MRI, and técnicos de la resonancia magnética fetal y sus aportes its importance in the prenatal diagnosis of Central al diagnóstico de las malformaciones más frecuentes Nervous System Malformations. del sistema nervioso. Key Words: Fetal MRI, Central Nervous System Mal- Palabras clave: resonancia magnética fetal, malforma- formations, neurosonography. ciones del sistema nervioso, neurosonografía. INTRODUCTION That is why Fetal Magnetic Resonance (fMR) has become a complementary technique to US in the study of the The study of fetal anatomy is done as a routine part of central nervous system (CNS). prenatal care. Ultrasound (US) is the diagnostic method of choice, because it gives excellent global results for the The objectives of this review are: to analyze the contri- complete anatomic assessment of the fetus during its bution of fMR to the study of the central nervous system different developmental stages. of the fetus and its more frequent malformations, and to It has been long been clearly established that US is a highly highlight the general principles of this technique, as well sensitive method for the detection of malformations, even as its scope and its limitations. in their early stages of development. During the last few years new technologies have advanced the study of fetal anatomy, MR among them. The use of TECHNICAL ASPECTS MR in this field is constantly increasing. In this respect some authors point out that anomalies that MR has developed considerably in the last few years, were not diagnosed by US can be detected by MR in 20% due to the changed paradigm for the study of congenital of patients (1). malformations. Corresponding author: At the same time, changes in law and health policy have This change came about essentially on account of ad- [email protected] allowed for voluntary interruption of pregnancy and have vances in treatment for some malformations (corrective Received april 19th in this way impacted the diagnosis and management of intrauterine fetal surgery), the need of a diagnosis in view Accepted may 5th malformations. of prenatal genetic advice and planned parenthood, and 2018 REVISION WORK / N. Sgarbi MD, V. Etchegoimberry MD 92 the legal modification related to interruption of pregnancy. and anatomy of the fetus. The subsequent use of MR along with the different va- Then comes the planning of the scan. It is necessary to rieties of US has modified the diagnostic approach to obtain fast T2-weighted cranium images in the three spa- malformations. tial planes (4). Sagittal spine images are obtained, axial or coronal planes may be used too if considered necessary The first concept to be highlighted is that MR must be or complementary. performed only after an ultrasound scan was performed by an expert in the assessment of fetal anatomy (2). Many Single-shot sequences must be used, such as Single Shot factors must be taken into account when ordering and Fast Spin Echo (SSFSE) or the Half Fourier Acquisition performing fMR. Turbo Spin-Echo (HASTE). Slice thickness must be adequate to fetal size, not exce- As a general recommendation, in the first place the scan eding 3 mm; an adequate field of vision (FOV) must be must focus on the anatomical region or organ that pre- chosen in order to obtain specific images of the region sented some alteration on US, so that the technique can of interest. be shown to best advantage. In special cases, study protocol may include other sequen- Then other factors concerning the maternal-fetus unit must ces such as T1-weighted sequences for fat analysis, or come into consideration. the susceptibility sequences such as T2- or SWI-weighted To achieve good imaging one must acquire images while GRE sequences for the assessment of hemorrhage, as well the fetus is immobile. as diffusion sequences (DWI) for the study of ischemia. Longer acquisition time is a limiting factor in such cases. Sedation is not recommended, it is preferable to ask the It is important to take into account some safety parameters. mother to fast during 4 to 6 hours, so as to restrict fetal The FDA has set clear limits to the specific absorption rate movements as much as possible. (SAR) of radio frequency, but its effects on the maternal-fe- The mother must receive precise and detailed information tal unit remain unclear (1). about the duration of the study, the position to maintain during that time and the respiratory movements that will All patients must receive clear information about the fMR be asked of her. modality in use, its benefits, its scope and its limitations. The patient must be placed on her back or even on her side, whichever is more comfortable for her, so as to ensure NORMAL CHARACTERISTICS OF FETAL her collaboration during the study. BRAIN Usually fMR is performed with 1.5 T equipment, but in the last few years some centers have reviewed the contribution In order to interpret and analyze an fMR scan correctly of 3T magnets (1), although it is known that their routine it is essential to know the usual appearance of the brain use is not recommended yet (3). during its development. A review of fetal brain reveals three basic components Although image resolution may improve, movement arti- that permit a fairly accurate diagnosis of the stage of de- facts increase likewise. That is why the use of high magnetic velopment. These components are: brain parenchyma, fields calls for more rigorous technique if optimal results germinal matrix and sulcation pattern (1). are to be achieved. During development white matter presents with high signal Surface coils must be used on the body, with as many in T2-weighted scans, on account of its high water content receptor channels as possible, so that high-resolution and scant myelinization. images are obtained in the least possible acquisition time. Brain parenchyma (or cerebral mantle) appears as several The timing of the pregnancy scan is a point of the utmost layers that can be accurately observed between the 28th importance. and the 30th week of development. The germinal matrix is the cell layer that will produce Most centers recommend performing the fMR scan after neurons; it is to be found on the walls of the ventricular the 19-20th week of pregnancy. Earlier on, structures system. In T2-weighted scans it has a low signal on account are very small and some of them (corpus callosum, for of its high cellular density. instance) are undeveloped and both factors make inter- During the second trimester the cells in this layer will mi- pretation difficult. grate to the surface, where they will form the brain cortex. Later on, in the third trimester, only small foci of germinal It is basic to have a previous recent ultrasound study as matrix persist in the temporal and occipital horns of the a guide, not only for the direct assessment of the malfor- lateral ventricles. The pattern of gyri and sulci undergoes mation under study, but also to have some orientation modifications during the process of development, going regarding fetal position and most of all, fetal neural axis, from a relatively agyral brain up to the 20th week to a for the third-trimester scan. First of all a localizer scan in all more complex pattern in the third trimester. Through three planes is done, so as to get an overview of position knowledge of the temporal sequence of appearance of the 93 Rev. Imagenol. 2da Ep. Jan./Jun. 2018 XXI (2): 92-101 FETAL MAGNETIC RESONANCE A CONTRIBUTION TO THE DIAGNOSIS OF CENTRAL NERVOUS SYSTEM MALFORMATIONS main sulci it is possible to assess fetal brain development TABLE 1 chronologically. Table 1 Time of development of the main brain sulci Following this course, we will find that the interhemisphe- Main brain sulci Gestational age in Fissures weeks ric fissure is already present before the 20th week, the callosomarginal fissure appears around the 22nd week, the Interhemispheric fissure 10 - 12 calcarine fissure between the 20th and the 22nd week, the central sulcus in the 26th week and the postcentral Callosomarginal fissure 20 - 24 sulcus is to be found shortly before the 30th week, around Calcarine fissure 18 -22 the 28th week. Figure 1 Morphology and size of lateral ventricles are important Sylvian fissure 16 - 20 items in the assessment, because as we shall see later, Intraparietal sulcus 24 - 26 these values are among the most commonly obtained. The presence of septum pellucidum must be assessed; it Insula 32 - 34 should be present by the 18th week, beyond that date its Central sulcus (fissure of Rolando) 22 - 26 absence is considered abnormal.
Recommended publications
  • Classification of Congenital Abnormalities of the CNS
    315 Classification of Congenital Abnormalities of the CNS M. S. van der Knaap1 A classification of congenital cerebral, cerebellar, and spinal malformations is pre­ J . Valk2 sented with a view to its practical application in neuroradiology. The classification is based on the MR appearance of the morphologic abnormalities, arranged according to the embryologic time the derangement occurred. The normal embryology of the brain is briefly reviewed, and comments are made to explain the classification. MR images illustrating each subset of abnormalities are presented. During the last few years, MR imaging has proved to be a diagnostic tool of major importance in children with congenital malformations of the eNS [1]. The excellent gray fwhite-matter differentiation and multi planar imaging capabilities of MR allow a systematic analysis of the condition of the brain in infants and children. This is of interest for estimating prognosis and for genetic counseling. A classification is needed to serve as a guide to the great diversity of morphologic abnormalities and to make the acquired data useful. Such a system facilitates encoding, storage, and computer processing of data. We present a practical classification of congenital cerebral , cerebellar, and spinal malformations. Our classification is based on the morphologic abnormalities shown by MR and on the time at which the derangement of neural development occurred. A classification based on etiology is not as valuable because the various presumed causes rarely lead to a specific pattern of malformations. The abnor­ malities reflect the time the noxious agent interfered with neural development, rather than the nature of the noxious agent. The vulnerability of the various structures to adverse agents is greatest during the period of most active growth and development.
    [Show full text]
  • Version 1.0, 8/21/2016 Zika Pregnancy Outcome Reporting Of
    Version 1.0, 8/21/2016 Zika Pregnancy outcome reporting of brain abnormalities and other adverse outcomes The following box details the inclusion criteria for brain abnormalities and other adverse outcomes potentially related to Zika virus infection during pregnancy. All pregnancy outcomes are monitored, but weekly reporting of adverse outcomes is limited to those meeting the below criteria. All prenatal and postnatal adverse outcomes are reported for both Zika Pregnancy Registries (US Zika Pregnancy Registry, Zika Active Pregnancy Surveillance System) and Active Birth Defects Surveillance; however, case finding methods dictate some differences in specific case definitions. Brain abnormalities with and without microcephaly Confirmed or possible congenital microcephaly# Intracranial calcifications Cerebral atrophy Abnormal cortical formation (e.g., polymicrogyria, lissencephaly, pachygyria, schizencephaly, gray matter heterotopia) Corpus callosum abnormalities Cerebellar abnormalities Porencephaly Hydranencephaly Ventriculomegaly / hydrocephaly (excluding “mild” ventriculomegaly without other brain abnormalities) Fetal brain disruption sequence (collapsed skull, overlapping sutures, prominent occipital bone, scalp rugae) Other major brain abnormalities, including intraventricular hemorrhage in utero (excluding post‐natal IVH) Early brain malformations, eye abnormalities, or consequences of central nervous system (CNS) dysfunction Neural tube defects (NTD) o Anencephaly / Acrania o Encephalocele o Spina bifida Holoprosencephaly
    [Show full text]
  • Epilepsy Panel Genes and Disorders
    Epilepsy Panel Genes and Disorders *Covered GENE Transcript OMIM ID OMIM Phenotype 10X (%) ABAT NM_020686.5 100 137150 GABA-transaminase deficiency ADGRG1 NM_001145771.2 100 604110 Polymicrogyria, bilateral frontoparietal; Polymicrogyria, bilateral perisylvian ADGRV1 NM_032119.3 99.93 602851 Febrile seizures, familial, 4; Usher syndrome, type 2C ADRA2B NM_000682.5 100 104260 Autosomal dominant cortical myoclonus and epilepsy (ADCME) ADSL NM_000026.2 100 608222 Adenylosuccinase deficiency AFG3L2 NM_006796.2 98.16 604581 Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28 AKT3 NM_005465.4 99.97 611223 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 93.05 (100% ALDH7A1** NM_001182.3 with Sanger 107323 Epilepsy, pyridoxine-dependent Gap fill) ALG13 NM_018466.5 98.76 300776 Congenital disorder of glycosylation, type Is ARFGEF2 NM_006420.2 100 605371 Periventricular heterotopia with microcephaly ARHGEF9 NM_015185.3 99.96 300430 Epileptic encephalopathy, early infantile, 8 98.96 (100% Epileptic encephalopathy, early infantile, 1; Hydranencephaly with abnormal ARX** NM_139058.2 with Sanger 300382 genitalia; Lissencephaly, X-linked 2; Mental retardation, X-linked; Partington Gap fill) syndrome; Proud syndrome ASAH1 NM_177924.3 613468 Farber lipogranulomatosis; Spinal muscular atrophy with progressive 100 myoclonic epilepsy ASPM NM_018136.4 99.88 605481 Microcephaly 5, primary, autosomal recessive ATP1A2 NM_000702.3 182340 Alternating hemiplegia of childhood; Migraine, familial basilar; Migraine, 100 familial hemiplegic,
    [Show full text]
  • Chapter III: Case Definition
    NBDPN Guidelines for Conducting Birth Defects Surveillance rev. 06/04 Appendix 3.5 Case Inclusion Guidance for Potentially Zika-related Birth Defects Appendix 3.5 A3.5-1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance rev. 06/04 Appendix 3.5 Case Inclusion Guidance for Potentially Zika-related Birth Defects Contents Background ................................................................................................................................................. 1 Brain Abnormalities with and without Microcephaly ............................................................................. 2 Microcephaly ............................................................................................................................................................ 2 Intracranial Calcifications ......................................................................................................................................... 5 Cerebral / Cortical Atrophy ....................................................................................................................................... 7 Abnormal Cortical Gyral Patterns ............................................................................................................................. 9 Corpus Callosum Abnormalities ............................................................................................................................. 11 Cerebellar abnormalities ........................................................................................................................................
    [Show full text]
  • Blueprint Genetics Neuronal Migration Disorder Panel
    Neuronal Migration Disorder Panel Test code: MA2601 Is a 59 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of neuronal migration disorder. About Neuronal Migration Disorder Neuronal migration disorders (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. During development, neurons must migrate from the areas where they are originate to the areas where they will settle into their proper neural circuits. The structural abnormalities found in NMDs include schizencephaly, porencephaly, lissencephaly, agyria, macrogyria, polymicrogyria, pachygyria, microgyria, micropolygyria, neuronal heterotopias, agenesis of the corpus callosum, and agenesis of the cranial nerves. Mutations of many genes are involved in neuronal migration disorders, such as DCX in classical lissencephaly spectrum, TUBA1A in microlissencephaly with agenesis of the corpus callosum, and RELN and VLDLR in lissencephaly with cerebellar hypoplasia. Mutations in ARX cause a variety of phenotypes ranging from hydranencephaly or lissencephaly to early-onset epileptic encephalopathies, including Ohtahara syndrome and infantile spasms or intellectual disability with no brain malformations. Availability 4 weeks Gene Set Description Genes in the Neuronal Migration Disorder Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ACTB* Baraitser-Winter syndrome AD 55 60 ACTG1* Deafness, Baraitser-Winter syndrome AD 27 47 ADGRG1
    [Show full text]
  • Hydranencephaly
    Kathmandu University Medical Journal (2010), Vol. 8, No. 1, Issue 29, 83-86 Case Note Hydranencephaly Pant S1, Kaur G2, JK De3 1Medical Offi cer, 2Associate Professor, 3Professor and Head, Department of Obstetrics and Gynaecology, Manipal College of Medical Sciences Abstract Hydranencephaly is a rare congenital condition where the greater portions of the cerebral hemispheres and the corpus striatum are replaced by cerebrospinal fl uid and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusion of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem refl exes without evidence of higher cortical activity. The infant’s head size and the spontaneous refl exes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal at birth. However, after a few weeks the infant usually becomes irritable and has increased muscle tone and after a few months of life, seizures and hydrocephalus (excessive accumulation of cerebrospinal fl uid in the brain) may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual defi cits. Since the early behaviour appears to be relatively normal, the diagnosis may be delayed for months sometimes. There is no defi nitive treatment for hydranencephaly. The outlook for children with hydranencephaly is generally poor, and many children with this disorder die before their fi rst birthday. Key words: hydranencephaly, congenital anomaly, vascular disruption, thromboplastin, 19 years old, Gravida 2 Para 0 Abortion 1, presented HBV, blood sugars) were normal.
    [Show full text]
  • Hydranencephaly in Association with Roberts Syndrome
    LE JOURNAL CANAD1EN DES SCIENCES NEUROLOGIQUKS Hydranencephaly in Association with Roberts Syndrome CHRIS E. U. EKONG AND BOHDAN ROZDILSKY SUMMARY: A clinicopathological In 1919, Dr. John Roberts de­ perforate. Marked hypertelorism study in a case of Roberts syndrome (tet- scribed a brother and sister with tet- was noted. The head appeared nor­ raphocomelia, cleft lip and palate, and raphocomelia, cleft lip and palate, mal in size but the neck was short and phallic hypertrophy) is reported. This pa­ and phallic hypertrophy. This com­ stiff. The infant died a few minutes tient had hydranencephaly and imperfo­ bination of congenital abnormalities after birth. Family history revealed rate anus, two additional congenital ab­ has subsequently been named that the patient's mother's two sis­ normalities so far not reported in this ters had no children, as they spon­ syndrome. Roberts syndrome. Twenty-two similar cases have been reported taneously aborted during each preg­ RESUME: Nous rapportons Vetude (Appelt et al., 1966; Holmes et al., nancy. The patient's parents were clinico pathologique d'un cas de syn­ 1972; Freeman et al., 1974). not consanguineously related. drome de Roberts (tetraphocomelie, bee Other congenital anomalies in­ A post mortem total body radio­ de lievre et hypertrophic phallique). Ce clude cryptorchidism, patent ductus graph (Figure 2) revealed ox­ patient presentait egalement une arteriosus and foramen ovale, en- ycephalic calvarium. The tubular hydranencephalie et tin anus non perfore cephalocele, polycystic kidneys, bones of the upper and lower ex­ — deux anomalies congenitales non horse-shoe kidneys and deformity of tremities were moderately well de­ prealablement connues dans ce syn­ base of skull and cribriform plate veloped, but were short compared to drome.
    [Show full text]
  • The Expanding Phenotype of COL4A1 and COL4A2 Mutations: Clinical Data on 13 Newly Identified Families and a Review of the Literature
    © American College of Medical Genetics and Genomics REVIEW The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature Marije E.C. Meuwissen, MD, PhD1,2, Dicky J.J. Halley, PhD1, Liesbeth S. Smit, MD3, Maarten H. Lequin, MD, PhD4, Jan M. Cobben, MD, PhD5, René de Coo, MD, PhD3, Jeske van Harssel, MD6, Suzanne Sallevelt, MD7, Gwendolyn Woldringh, MD, PhD8, Marjo S. van der Knaap, MD, PhD9, Linda S. de Vries, MD, PhD10 and Grazia M.S. Mancini, MD, PhD1 Two proα1(IV) chains, encoded by COL4A1, form trimers that children with porencephaly or other patterns of parenchymal hemor- contain, in addition, a proα2(IV) chain encoded by COL4A2 and rhage, with a high de novo mutation rate of 40% (10/24). The obser- are the major component of the basement membrane in many tis- vations in 13 novel families harboring either COL4A1 or COL4A2 sues. Since 2005, COL4A1 mutations have been known as an auto- mutations prompted us to review the clinical spectrum. We observed somal dominant cause of hereditary porencephaly. COL4A1 and recognizable phenotypic patterns and propose a screening protocol COL4A2 mutations have been reported with a broader spectrum at diagnosis. Our data underscore the importance of COL4A1 and of cerebrovascular, renal, ophthalmological, cardiac, and muscular COL4A2 mutations in cerebrovascular disease, also in sporadic abnormalities, indicated as “COL4A1 mutation–related disorders.” patients. Follow-up data on symptomatic and asymptomatic muta- Genetic counseling is challenging because of broad phenotypic varia- tion carriers are needed for prognosis and appropriate surveillance.
    [Show full text]
  • Hydranencephaly
    Pavone et al. Italian Journal of Pediatrics 2014, 40:79 http://www.ijponline.net/content/40/1/79 ITALIAN JOURNAL OF PEDIATRICS REVIEW Open Access Hydranencephaly: cerebral spinal fluid instead of cerebral mantles Piero Pavone1*, Andrea D Praticò1, Giovanna Vitaliti1, Martino Ruggieri2, Renata Rizzo3, Enrico Parano4, Lorenzo Pavone1, Giuseppe Pero5 and Raffaele Falsaperla1 Abstract The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months. Hydranencephaly is an isolated and with a severe prognosis abnormality, affecting the cerebral mantle. In this condition, the cerebral hemispheres are completely or almost completely absent and are replaced by a membranous sac filled with cerebrospinal fluid. Midbrain is usually not involved. Hydranencephaly is a relatively rare cerebral disorder. Differential diagnosis is mainly relevant when considering severe hydrocephalus, poroencephalic cyst and alobar holoprosencephaly. Ethical questions related to the correct criteria for the surgical treatment are also discussed. Keywords: Hydranencephaly, Holoprosencephaly, Congenital anomaly, Brain malformation, Severe hydrocephalus Introduction often misdiagnosed due to the similarities of HE to disor- Hydranencephaly (HE) is a rare, mostly isolated abnormal- ders involving the cerebral mantle (Table 1). ity, which is reported to affect about 1 out 5000 continu- The aim of our review is to report on this condition, ing pregnancies [1,2]; an accurate incidence is difficult to utilizing data from the literature, and also presenting our determine, considering how similar this condition is to experience with a patient affected by the bilateral form of others and the limited diagnostic techniques that have HE, who is still alive at the age of 36 months.
    [Show full text]
  • State of the Art &&&&&&&&&&&&&& Neuroimaging and the Timing of Fetal and Neonatal Brain Injury
    State of the Art &&&&&&&&&&&&&& Neuroimaging and the Timing of Fetal and Neonatal Brain Injury Patrick D. Barnes, MD modalities provide spatial resolution based upon physiologic or metabolic data. Some modalities may actually be considered to provide both structural and functional information. Ultrasonography (US) Current and advanced structural and functional neuroimaging techniques is primarily a structural imaging modality with some functional 1±11 are presented along with guidelines for utilization and principles of imaging capabilities (e.g., Doppler ÐFigure 1). It is readily accessible, diagnosis in fetal and neonatal central nervous system abnormalities. portable, fast, real time and multiplanar. It less expensive than other Pattern of injury, timing issues, and differential diagnosis are addressed with cross-sectional modalities and relatively noninvasive (nonionizing emphasis on neurovascular disease. Ultrasonography and computed radiation). It requires no contrast agent and infrequently needs tomography provide relatively rapid and important screening information patient sedation. The resolving power of US is based on variations in regarding gross macrostructural abnormalities. However, current and acoustic reflectance of tissues. Its diagnostic effectiveness, however, is advanced MRI techniques often provide more definitive macrostructural, primarily dependent upon the skill and experience of the operator and microstructural, and functional imaging information. interpreter. Also, US requires a window or path unimpeded by bone
    [Show full text]
  • Bilateral Schizencephaly with Septo Optic Dysplasia Rare Cause of Seizure Disorder
    Faridpur Med. Coll. J. 2018;13(1):50-52 Case Report Bilateral Schizencephaly with Septo Optic Dysplasia Rare Cause of Seizure Disorder MMB Zaman Abstract: Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits or clefts in the cerebral hemispheres extending from the lateral ventricle to the cerebral cortex. The margins of the cleft are lined with heterotropic, dysplastic gray matter. The causes of schizencephaly are heterogenous and include teratogens, prenatal infarction/infections, maternal trauma, or EMX2 mutations. It is a central nervous system disorder with variable presentations. People with this disorder commonly have developmental delays, delays in speech and language skills, seizures disorder and problems with brain-spinal cord communication. This condition is present at birth and manifests early in life. This patient presented with seizure and growth retardation and investigation revealed bilateral Schizencephaly with Septo optic dysplasia. Key words: Schizencephaly, Clefts, Septo Optic Dysplasia. Introduction: Schizencephaly is a rare cortical malformation that Other factors such as infection, metabolic disorders, manifests as a gray matter-lined cleft extending from and genetic defects also play an role in the the ependyma to the pia mater. In 1946, Yakovlev and development of schizencephaly. Granata T et al. have Wadsworth first described schizencephaly as reported heterozygous mutations of the EMX2 gene hemispheric clefts in the region of the primary fissures, associated with schizencephaly3. infolding of gray matter along the clefts, and associated cerebral malformations. The schizencephaly clefts are Since the exact cause of the disorder is unknown, it's mostly perisylvian or centrally located1. hard to pinpoint risk factors.
    [Show full text]
  • Typical Lesions in the Fetal Nervous System: Correlations Between Fetal Magnetic Resonance Imaging and Obstetric Ultrasonography Findings
    Typical lesions in the fetal nervous system: correlations between fetal magnetic resonance imaging and obstetric ultrasonography findings PICTORIAL ESSAY Heron Werner1, Taisa Davaus Gasparetto1, Pedro Daltro1, Emerson Leandro Gasparetto1, https://doi.org/10.14366/usg.17040 2 Edward Araujo Júnior pISSN: 2288-5919 • eISSN: 2288-5943 Ultrasonography 2018;37:261-274 1Department of Radiology, Clínica de Diagnóstico por Imagem (CDPI), Rio de Janeiro; 2Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil Received: May 29, 2017 Revised: October 21, 2017 Central nervous system (CNS) malformations play a role in all fetal malformations. Accepted: October 21, 2017 Ultrasonography (US) is the best screening method for identifying fetal CNS malformations. Correspondence to: Edward Araujo Júnior, PhD, Department A good echographic study depends on several factors, such as positioning, fetal mobility and of Obstetrics, Paulista School of growth, the volume of amniotic fluid, the position of the placenta, the maternal wall, the quality Medicine, Federal University of São Paulo (EPM-UNIFESP), Rua Belchior de of the apparatus, and the sonographer’s experience. Although US is the modality of choice for Azevedo, 156 apto. 111 Torre Vitoria, routine prenatal follow-up because of its low cost, wide availability, safety, good sensitivity, São Paulo, CEP 05089-030, Brazil and real-time capability, magnetic resonance imaging (MRI) is promising for the morphological Tel. +55-11-37965944 Fax. +55-11-37965944 evaluation of fetuses that otherwise would not be appropriately evaluated using US. The aim of E-mail: [email protected] this article is to present correlations of fetal MRI findings with US findings for the major CNS malformations.
    [Show full text]