6 Tips on Zika for Pediatricians
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Ultrasound Evaluation of the Central Nervous System
Ultrasound Evaluation of the Ultrasound Evaluation of the Central Nervous System Central Nervous System ••CNSCNS malformations are the second most Mani Montazemi, RDMS frequent category of congenital anomaly, Director of Ultrasound Education & Quality Assurancee after congenital heart disease Baylor College of Medicine Division of Maternal-Fetal Medicine ••PoorPoor timing of the examination, rather than Department of Obstetrics and Gynecology Texas Children’s Hospital, Pavilion for Women poor sensitivity, can be an important factor Houston Texas & in failing to detect a CNS abnormality Clinical Instructor Thomas Jefferson University Hospital Radiology Department Fetal Head Philadelphia, Pennsylvania Fetal Head Central Nervous System Brain Development 9 -13 weeks Rhombencephalon 5th Menstrual Week •Gives rise to hindbrain •4th ventricle Arises from the posterior surface of the embryonic ectoderm Mesencephalon •Gives rise to midbrain A small groove is found along •Aqueduct the midline of the embryo and the edges of this groove fold over to form a neuro tube that Prosencephalon gives rise to the fetal spinal •Gives rise to forebrain rd cord and brain •Lateral & 3 ventricles Fetal Head Fetal Head Ventricular view Neural Tube Defects ••LateralLateral ventricles ••ChoroidChoroid plexus Group of malformations: Thalamic view • Anencephaly ••MidlineMidline falx •Anencephaly ••CavumCavum septiseptipellucidi pellucidi ••CephalocelesCephaloceles ••ThalamiThalami ••SpinaSpina bifida Cerebellar view ••CerebellumCerebellum ••CisternaCisterna magna Fetal -
1Q21.1 Duplication Syndrome and Epilepsy Case Report and Review
CLINICAL/SCIENTIFIC NOTES OPEN ACCESS 1q21.1 Duplication syndrome and epilepsy Case report and review Ioulia Gourari, MD, Romaine Schubert, MD, and Aparna Prasad, PhD Correspondence Dr. Gourari Neurol Genet 2018;4:e219. doi:10.1212/NXG.0000000000000219 [email protected] Copy number variants (CNVs) of 1q21.1 are increasingly being recognized due to the wide- spread use of genetic screening tests for the investigation of developmental disorders and epilepsy. These include microdeletion and microduplication syndromes, associated with a wide variety of pathology including autism spectrum disorders, attention-deficit disorder, learning disabilities, hypotonia, facial dysmorphisms, and schizophrenia. The 1q21.1 region is consid- ered to be genetically unstable because it contains one of the largest areas of identical dupli- cation sequences in the human genome. Epilepsy has been reported in the literature, particularly in microdeletion syndromes, but rarely in association with microduplication syn- dromes. We report a patient with epilepsy and autism spectrum disorder due to a distal 1q21.1 microduplication and review the available literature and genetic information. Case report We present a 10-year-old girl with a low-functioning autism spectrum disorder and focal motor epilepsy. On examination, she has hypertelorism, minimal communicative language skills, and severe macrocephaly (HC = 57 cm, 3.6 SD > 99%). Seizures started at 7 years of age and consisted of head deviation to the left, generalized stiffening, clonic activity of the mouth, and fluttering of the eyelids, lasting for 1–2 minutes. Multiple video EEG recordings showed a right temporal focus with a less active, independent left temporal focus. 3T MRI scan of the brain was normal. -
A Anencephaly
Glossary of Birth Anomaly Terms: A Anencephaly: A deadly birth anomaly where most of the brain and skull did not form. Anomaly: Any part of the body or chromosomes that has an unusual or irregular structure. Aortic valve stenosis: The aortic valve controls the flow of blood from the left ventricle of the heart to the aorta, which takes the blood to the rest of the body. If there is stenosis of this valve, the valve has space for blood to flow through, but it is too narrow. Atresia: Lack of an opening where there should be one. Atrial septal defect: An opening in the wall (septum) that separates the left and right top chambers (atria) of the heart. A hole can vary in size and may close on its own or may require surgery. Atrioventricular septal defect (endocardial cushion defect): A defect in both the lower portion of the atrial septum and the upper portion of the ventricular septum. Together, these defects make a large opening (canal) in the middle part of the heart. Aniridia (an-i-rid-e-a): An eye anomaly where the colored part of the eye (called the iris) is partly or totally missing. It usually affects both eyes. Other parts of the eye can also be formed incorrectly. The effects on children’s ability to see can range from mild problems to blindness. To learn more about aniridia, go to the U.S. National Library of Medicine website. Anophthalmia/microphthalmia (an-oph-thal-mia/mi-croph-thal-mia): Birth anomalies of the eyes. In anophthalmia, a baby is born without one or both eyes. -
Megalencephaly and Macrocephaly
277 Megalencephaly and Macrocephaly KellenD.Winden,MD,PhD1 Christopher J. Yuskaitis, MD, PhD1 Annapurna Poduri, MD, MPH2 1 Department of Neurology, Boston Children’s Hospital, Boston, Address for correspondence Annapurna Poduri, Epilepsy Genetics Massachusetts Program, Division of Epilepsy and Clinical Electrophysiology, 2 Epilepsy Genetics Program, Division of Epilepsy and Clinical Department of Neurology, Fegan 9, Boston Children’s Hospital, 300 Electrophysiology, Department of Neurology, Boston Children’s Longwood Avenue, Boston, MA 02115 Hospital, Boston, Massachusetts (e-mail: [email protected]). Semin Neurol 2015;35:277–287. Abstract Megalencephaly is a developmental disorder characterized by brain overgrowth secondary to increased size and/or numbers of neurons and glia. These disorders can be divided into metabolic and developmental categories based on their molecular etiologies. Metabolic megalencephalies are mostly caused by genetic defects in cellular metabolism, whereas developmental megalencephalies have recently been shown to be caused by alterations in signaling pathways that regulate neuronal replication, growth, and migration. These disorders often lead to epilepsy, developmental disabilities, and Keywords behavioral problems; specific disorders have associations with overgrowth or abnor- ► megalencephaly malities in other tissues. The molecular underpinnings of many of these disorders are ► hemimegalencephaly now understood, providing insight into how dysregulation of critical pathways leads to ► -
Pushing the Limits of Prenatal Ultrasound: a Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3Q Duplication
reproductive medicine Case Report Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication Olivier Leroij 1, Lennart Van der Veeken 2,*, Bettina Blaumeiser 3 and Katrien Janssens 3 1 Faculty of Medicine, University of Antwerp, 2610 Wilrijk, Belgium; [email protected] 2 Department of Obstetrics and Gynaecology, University Hospital Antwerp, 2650 Edegem, Belgium 3 Department of Medical Genetics, University Hospital and University of Antwerp, 2650 Edegem, Belgium; [email protected] (B.B.); [email protected] (K.J.) * Correspondence: [email protected] Abstract: We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a spina bifida, other imaging techniques together with genetic tests and measurement of alpha-fetoprotein in the amniotic fluid should be performed. Citation: Leroij, O.; Van der Veeken, Keywords: dorsal dermal sinus; Arnold–Chiari anomaly; 3q23q27 duplication; mosaic; marker chro- L.; Blaumeiser, B.; Janssens, K. mosome Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q 1. -
CONGENITAL ABNORMALITIES of the CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles Ffrench-Constant *I3
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.74.suppl_1.i3 on 1 March 2003. Downloaded from CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM Christopher Verity, Helen Firth, Charles ffrench-Constant *i3 J Neurol Neurosurg Psychiatry 2003;74(Suppl I):i3–i8 dvances in genetics and molecular biology have led to a better understanding of the control of central nervous system (CNS) development. It is possible to classify CNS abnormalities Aaccording to the developmental stages at which they occur, as is shown below. The careful assessment of patients with these abnormalities is important in order to provide an accurate prog- nosis and genetic counselling. c NORMAL DEVELOPMENT OF THE CNS Before we review the various abnormalities that can affect the CNS, a brief overview of the normal development of the CNS is appropriate. c Induction—After development of the three cell layers of the early embryo (ectoderm, mesoderm, and endoderm), the underlying mesoderm (the “inducer”) sends signals to a region of the ecto- derm (the “induced tissue”), instructing it to develop into neural tissue. c Neural tube formation—The neural ectoderm folds to form a tube, which runs for most of the length of the embryo. c Regionalisation and specification—Specification of different regions and individual cells within the neural tube occurs in both the rostral/caudal and dorsal/ventral axis. The three basic regions of copyright. the CNS (forebrain, midbrain, and hindbrain) develop at the rostral end of the tube, with the spinal cord more caudally. Within the developing spinal cord specification of the different popu- lations of neural precursors (neural crest, sensory neurones, interneurones, glial cells, and motor neurones) is observed in progressively more ventral locations. -
Surveillance for Anencephaly and Spina Bifida and the Impact of Prenatal Diagnosis —United States, 1985–1994
August 25, 1995 / Vol. 44 / No. SS-4 CDC Surveillance Summaries Surveillance for Anencephaly and Spina Bifida and the Impact of Prenatal Diagnosis —United States, 1985–1994 U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES Public Health Service Centers for Disease Control and Prevention (CDC) Atlanta, Georgia 30333 The MMWR series of publications is published by the Epidemiology Program Office, Centers for Disease Control and Prevention (CDC), Public Health Service, U.S. Depart- ment of Health and Human Services, Atlanta, GA 30333. SUGGESTED CITATION General: Centers for Disease Control and Prevention. CDC Surveillance Sum- maries, August 25, 1995. MMWR 1995;44(No. SS-4). Specific: [Author(s)]. [Title of particular article]. In: CDC Surveillance Sum- maries, August 25, 1995. MMWR 1995;44(No. SS-4):[inclusive page numbers]. Centers for Disease Control and Prevention .......................... David Satcher, M.D., Ph.D. Director The production of this report as an MMWR serial publication was coordinated in: Epidemiology Program Office.................................... Stephen B. Thacker, M.D., M.Sc. Director Richard A. Goodman, M.D., M.P.H. Editor, MMWR Series Scott F. Wetterhall, M.D., M.P.H. Associate Editor, CDC Surveillance Summaries Scientific Information and Communications Program CDC Surveillance Summaries ...................................... Suzanne M. Hewitt, M.P.A. Managing Editor Rachel J. Wilson Ava W. Navin, M.A. Project Editors Peter M. Jenkins Visual Information Specialist Use of trade names and commercial sources is for identification only and does not imply endorsement by the Public Health Service or the U.S. Department of Health and Human Services. Copies can be purchased from Superintendent of Documents, U.S. -
Massachusetts Birth Defects 2011-2012
Massachusetts Birth Defects 2011-2012 Massachusetts Birth Defects Monitoring Program Bureau of Family Health and Nutrition Massachusetts Department of Public Health May 2016 Charles D. Baker, Governor Karyn E. Polito, Lieutenant Governor Marylou Sudders, Secretary, Executive Office of Health and Human Services Monica Bharel, MD, MPH, Commissioner, Massachusetts Department of Public Health Ron Benham, Director, Bureau of Family Health and Nutrition, Acting Director, Massachusetts Center for Birth Defects Research and Prevention Acknowledgements This report was prepared by Rebecca Liberman and Cathleen Higgins, Massachusetts Center for Birth Defects Research and Prevention. We would like to thank the Massachusetts Center for Birth Defects Research and Prevention staff who contributed to this report, including: Marlene Anderka, Xiaoli Chen, Dominique Heinke, Angela Lin, and Gerlinde Munshi. Data in this report have been collected through the efforts of Center field staff, including: Roberta Aucoin, Mitcheka Jalali, Washa Liu, Daniel Sexton, Lori Tetrault and Ashley Tracey. We would like to acknowledge the following individuals and organizations for their time and commitment in supporting the Center: Lewis Holmes, MD, MassGeneral Hospital for Children Carol Louik, ScD, Slone Epidemiology Center, Boston University Allen Mitchell, MD, Slone Epidemiology Center, Boston University Martha Werler, ScD, Department of Epidemiology, Boston University School of Public Health Ed Doherty, March of Dimes Massachusetts Chapter Massachusetts Registry of -
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 -
South Carolina Birth Defects Program Resource Guide
South Carolina Birth Defects Program Resource Guide A South Carolina where healthy births are promoted, every birth defect matters, and families impacted by birth defects are supported. Table Of Contents Introduction Introduction 1 Thousands of families in South Carolina have been impacted by a birth defect. Birth defects are structural changes which are already there when a baby is born that can affect any part of the body (e.g., heart, brain, South Carolina Birth Defects Program Mission and Vision 2 foot). They may affect how the body looks, works, or both. Birth defects can vary from mild to severe. The well-being of each child affected with a birth defect depends mostly on which organ or body part is involved, General Information on Birth Defects in South Carolina 4 how much it is affected, early detection, and timely entry into Early Intervention services. Cardiovascular (Heart) Birth Defects in South Carolina 5 Learning that a child has a birth defect can be difficult for a family. Families often feel alone when they find out about a birth defect. They are not alone. According to the Centers for Disease Control and Prevention, birth Interview with a Parent of a Child with a Critical Congenital Heart Birth Defect 7 defects affect 1 in 33 babies born every year and cause 1 in 5 infant deaths. In 2004, South Carolina government officials created a way to track these important conditions through a law called “The South Carolina Birth Orofacial Birth Defects 11 Defects Act.” The South Carolina Birth Defects Program (SCBDP) was created through this law. -
Endosomal Trafficking Defects Alter Neural Progenitor Proliferation And
bioRxiv preprint doi: https://doi.org/10.1101/2020.08.17.254037; this version posted August 17, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. 1 2 Endosomal trafficking defects alter neural progenitor proliferation 3 and cause microcephaly 4 5 Jacopo A. Carpentieri1, Amandine Di Cicco1, David Andreau1, Laurence Del Maestro2, Fatima 6 El Marjou1, Laure Coquand1, Jean-Baptiste Brault1, Nadia Bahi-Buisson3, Alexandre D. 7 Baffet1,4,# 8 9 1- Institut Curie, PSL Research University, CNRS UMR144, 75005 Paris, France 10 2- Centre Épigénétique et destin cellulaire, Université Paris Diderot, CNRS UMR 7216, 75013 Paris, 11 France 12 3- INSERM U1163, Institut Imagine, Necker Hospital, 75015 Paris, France 13 4- Institut national de la santé et de la recherche médicale (Inserm) 14 # Corresponding author: [email protected] 15 16 Abstract 17 Primary microcephaly and megalencephaly are severe brain malformations defined by reduced 18 and increased brain size, respectively. Whether these two pathologies arise from related alterations at 19 the molecular level is unclear. Microcephaly has been largely associated with centrosomal defects, 20 leading to cell death. Here, we investigated the consequences of WDR81 loss of function, which cause 21 severe microcephaly in patients. We show that WDR81 regulates endosomal trafficking of EGFR, 22 and that loss of function leads to reduced MAP kinase pathway activation. Mouse radial glial 23 progenitor cells knocked-out for WDR81 display reduced proliferation rates, leading to reduced brain 24 size. -
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 ........................................................................................................................................