Surveillance of Microcephaly Webinar Transcript
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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 -
Unusual Presentation of Congenital Dermal Sinus: Tethered Spinal Cord with Intradural Epidermoid and Dual Paramedian Cutaneous Ostia
Neurosurg Focus 33 (4):E5, 2012 Unusual presentation of congenital dermal sinus: tethered spinal cord with intradural epidermoid and dual paramedian cutaneous ostia Case report EFREM M. COX, M.D., KATHLeeN E. KNUDSON, M.D., SUNIL MANJILA, M.D., AND ALAN R. COHEN, M.D. Division of Pediatric Neurosurgery, Rainbow Babies and Children’s Hospital; and Department of Neurological Surgery, The Neurological Institute, University Hospitals Case Medical Center, Cleveland, Ohio The authors present the first report of spinal congenital dermal sinus with paramedian dual ostia leading to 2 intradural epidermoid cysts. This 7-year-old girl had a history of recurrent left paramedian lumbosacral subcutaneous abscesses, with no chemical or pyogenic meningitis. Admission MRI studies demonstrated bilateral lumbar dermal sinus tracts and a tethered spinal cord. At surgery to release the tethered spinal cord the authors encountered para- median dermal sinus tracts with dual ostia, as well as 2 intradural epidermoid cysts that were not readily apparent on MRI studies. Congenital dermal sinus should be considered in the differential diagnosis of lumbar subcutaneous abscesses, even if the neurocutaneous signatures are located off the midline. (http://thejns.org/doi/abs/10.3171/2012.8.FOCUS12226) KEY WORDS • tethered spinal cord • epidermoid cyst • neural tube defect • congenital dermal sinus • dual ostia ONGENITAL dermal sinus tracts of the spine are a Spinal congenital epidermoid cysts arise from epi- rare form of spinal dysraphism, and are hypoth- thelial inclusion -
Facts About Spina Bifida 1995-2009 Bifida 1995-2009
Facts about Spina Facts about Spina Bifida 1995-2009 Bifida 1995-2009 January 9, 2012 Definition and Types United States Estimates Spina Bifida is a type of neural tube defect where the Each year, about 1,500 babies are born with Spina Bifida in spine does not form properly within the first month of the U.S. The lifetime medical cost associated with caring for pregnancy. There are three types of Spina Bifida: Oc- a child that has been diagnosed with Spina Bifida is estimated 4 culta, Meningocele, and Myelomeningocele. at $460,923 in 2009. Occulta, the mildest form, occurs when there is a In 1992, the Centers for Disease Control and Prevention division between the vertebrae. However, the spi- (CDC) recommended that women of childbearing age con- nal cord does not protrude through the back. The sume 400 micrograms of synthetic folic acid daily. Subse- spinal cord and the nerve usually are normal. This quently, the Food and Drug Administration (FDA) required type of spina bifida usually does not cause any dis- the addition of folate to enriched cereal-grain products by abilities. January 1998. Since then, the incident rate for Spina Bifida of . Meningocele, the least common form, occurs when post-fortification (1998-2006) was 3.68 cases per 10,000 live the covering for the spinal cord but not the spinal births, declined 31% from the pre-fortification (1995-1996) cord protrudes through the back. There is usually rate of 5.04 cases per 10,000 live births.4 little or no nerve damage. This type of spina bifida can cause minor disabilities. -
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. -
Maternal Vitamin B12 Status and Risk of Neural Tube Defects in a Population with High Neural Tube Defect Prevalence and No Folic Acid Fortification Anne M
Maternal Vitamin B12 Status and Risk of Neural Tube Defects in a Population With High Neural Tube Defect Prevalence and No Folic Acid Fortification Anne M. Molloy, Peadar N. Kirke, James F. Troendle, Helen Burke, Marie Sutton, Lawrence C. Brody, John M. Scott and James L. Mills Pediatrics 2009;123;917-923 DOI: 10.1542/peds.2008-1173 The online version of this article, along with updated information and services, is located on the World Wide Web at: http://www.pediatrics.org/cgi/content/full/123/3/917 PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. PEDIATRICS is owned, published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007. Copyright © 2009 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 0031-4005. Online ISSN: 1098-4275. Downloaded from www.pediatrics.org. Provided by Trinity Health Sciences Centre on November 4, 2009 ARTICLE Maternal Vitamin B12 Status and Risk of Neural Tube Defects in a Population With High Neural Tube Defect Prevalence and No Folic Acid Fortification Anne M. Molloy, PhDa, Peadar N. Kirke, FFPHMIb, James F. Troendle, PhDc, Helen Burke, BSocScb, Marie Sutton, MB, MPHb, Lawrence C. Brody, PhDd, John M. Scott, ScDe, James L. Mills, MD, MSc Schools of aMedicine and eImmunology and Biochemistry and Immunology, Trinity College, Dublin, Ireland; bChild Health Epidemiology Unit, Health Research Board, Dublin, Ireland; cDivision of Epidemiology, Statistics, and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland; dMolecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland The authors have indicated they have no financial relationships relevant to this article to disclose. -
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. -
Neural Tube Defects, Folic Acid and Methylation
Int. J. Environ. Res. Public Health 2013, 10, 4352-4389; doi:10.3390/ijerph10094352 OPEN ACCESS International Journal of Environmental Research and Public Health ISSN 1660-4601 www.mdpi.com/journal/ijerph Review Neural Tube Defects, Folic Acid and Methylation Apolline Imbard 1,2,*, Jean-François Benoist 1 and Henk J. Blom 2 1 Biochemistry-Hormonology Laboratory, Robert Debré Hospital, APHP, 48 bd Serrurier, Paris 75019, France; E-Mail: [email protected] 2 Metabolic Unit, Department of Clinical Chemistry, VU Free University Medical Center, De Boelelaan 1117, Amsterdam 1081 HV, The Netherlands; E-Mail: [email protected] * Author to whom correspondence should be addressed; E-Mail: [email protected]; Tel.: +33-1-4003-4722; Fax: +33-1-4003-4790. Received: 27 July 2013; in revised form: 30 August 2013 / Accepted: 3 September 2013 / Published: 17 September 2013 Abstract: Neural tube defects (NTDs) are common complex congenital malformations resulting from failure of the neural tube closure during embryogenesis. It is established that folic acid supplementation decreases the prevalence of NTDs, which has led to national public health policies regarding folic acid. To date, animal studies have not provided sufficient information to establish the metabolic and/or genomic mechanism(s) underlying human folic acid responsiveness in NTDs. However, several lines of evidence suggest that not only folates but also choline, B12 and methylation metabolisms are involved in NTDs. Decreased B12 vitamin and increased total choline or homocysteine in maternal blood have been shown to be associated with increased NTDs risk. Several polymorphisms of genes involved in these pathways have also been implicated in risk of development of NTDs. -
Supratentorial Brain Malformations
Supratentorial Brain Malformations Edward Yang, MD PhD Department of Radiology Boston Children’s Hospital 1 May 2015/ SPR 2015 Disclosures: Consultant, Corticometrics LLC Objectives 1) Review major steps in the morphogenesis of the supratentorial brain. 2) Categorize patterns of malformation that result from failure in these steps. 3) Discuss particular imaging features that assist in recognition of these malformations. 4) Reference some of the genetic bases for these malformations to be discussed in greater detail later in the session. Overview I. Schematic overview of brain development II. Abnormalities of hemispheric cleavage III. Commissural (Callosal) abnormalities IV. Migrational abnormalities - Gray matter heterotopia - Pachygyria/Lissencephaly - Focal cortical dysplasia - Transpial migration - Polymicrogyria V. Global abnormalities in size (proliferation) VI. Fetal Life and Myelination Considerations I. Schematic Overview of Brain Development Embryology Top Mid-sagittal Top Mid-sagittal Closed Neural Tube (4 weeks) Corpus Callosum Callosum Formation Genu ! Splenium Cerebral Hemisphere (11-20 weeks) Hemispheric Cleavage (4-6 weeks) Neuronal Migration Ventricular/Subventricular Zones Ventricle ! Cortex (8-24 weeks) Neuronal Precursor Generation (Proliferation) (6-16 weeks) Embryology From ten Donkelaar Clinical Neuroembryology 2010 4mo 6mo 8mo term II. Abnormalities of Hemispheric Cleavage Holoprosencephaly (HPE) Top Mid-sagittal Imaging features: Incomplete hemispheric separation + 1)1) No septum pellucidum in any HPEs Closed Neural -
Prenatal Diagnosis, Phenotypic and Obstetric Characteristics of Holoprosencephaly
Fetal Diagn Ther 2005;20:161–166 Received: August 6, 2003 DOI: 10.1159/000083897 Accepted after revision: January 15, 2004 Prenatal Diagnosis, Phenotypic and Obstetric Characteristics of Holoprosencephaly Ga´ bor J. Joo´ Artu´ r Beke Csaba Papp Erno˝To´ th-Pa´ l Zsanett Szigeti Zolta´nBa´ n Zolta´ n Papp Semmelweis University Medical School I., Department of Obstetrics and Gynecology, Budapest, Hungary Key Words Introduction Holoprosencephaly W Prenataldiagnosis W Patient’s history W Accompanying malformations In the early weeks of embryonic development, the brain consists of three parts: prosencephalon, mesenceph- alon, rhombencephalon. Between the time of neural tube Abstract closure and the 5th gestational week, the prosencephalon The diagnosis of fetal malformations, especially those of gives origin to telencephalon (cerebral hemispheres) and the central nervous system, is strikingly important in the diencephalon (thalamus and hypothalamus), the mesen- practice of genetic counseling. Early diagnosis is very cephalon forms the midbrain and rhombencephalon de- significant, not only because of the prognosis, but also velops into metencephalon (pons and cerebellum) and because of the emotional effects caused by the accompa- myelencephalon (medulla oblongata). At the time of the nying craniofacial malformations. The summary of the telencephalon/diencephalon differentiation, the prosen- obstetrical and diagnostical characteristics should be cephalon also splits longitudinally – the hemispheres de- useful in the management of holoprosencephaly. The velop on the lateral aspects of the longitudinal cerebral analysis of the 50 cases we encountered between 1981 fissure by progressive enlargement and hollowing of the and 2000, including the anatomical, diagnostic and clini- cerebral vesicles. Should the prechordal mesoderm fail to cal aspects, as well as the associated craniofacial malfor- migrate normally [1, 2], the prosencephalon remains un- mations, forms the essence of our publication. -
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.