Assessment of Fetal Central Nervous System Assessment of Fetal Central Nervous System
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Congenital Externally Communicating Porencephaly Presenting As Hemiplegic Cerebral Palsy: Imaging Study of a Rare Condition
SunKrist Journal of Neonatology and Pediatrics Case Presentation Volume: 3, Issue: 1 Scientific Knowledge Congenital Externally Communicating Porencephaly Presenting as Hemiplegic Cerebral Palsy: Imaging Study of a Rare Condition Al-Mosawi AJ1,2* 1Department of Pediatrics and Pediatric Psychiatry, Children Teaching Hospital of Baghdad Medical City, Iraq 2Head, Iraq Headquarter of Copernicus Scientists International Panel, Iraq 1. Abstract presentation including asymptomatic, various forms Congenital porencephaly is a very rare condition of cerebral palsy, seizures and cognitive impairment. characterized by cystic degeneration The disorder is heterogeneous in nature and the brain encephalomalacia and cysts or cavities within the lesions can be caused by developmental brain. Porencephalic cysts have a variable size and abnormalities, infection, perinatal brain ischemia, site and therefore it result in a variable clinical trauma and hemorrhage. Genetic factors have been presentations including asymptomatic, various forms suggested and familial cases have been reported. of cerebral palsy, seizures and cognitive impairment. Congenital porencephaly is generally classified into, The disorder is heterogeneous in nature and the brain internally communicating with the ventricle and lesions can be caused by developmental externally communicating with the subarachnoid abnormalities, infection, perinatal brain ischemia, space [1-7]. The aim of this paper is to report the rare trauma and hemorrhage. Genetic factors have been finding of externally communicating porencephaly in suggested and familial cases have been reported. a child with hemiplegic cerebral palsy. Congenital porencephaly is generally classified into, 4. Patients and Methods internally communicating with the ventricle and The case of a five-year old girl with hemiplegic externally communicating with the subarachnoid cerebral palsy caused by porencephaly is described space. -
Porencephaly Diagnosed by Isotope Cisternography
Journal of Neurology, Neurosurgery, and Psychiatry, 1972, 35, 669-675 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.35.5.669 on 1 October 1972. Downloaded from Porencephaly diagnosed by isotope cisternography D. FRONT, J. W. F. BEKS, AND L. PENNING' From the Departments of Neuroradiology and Neurosurgery, University Hospital, Gronintgen, The Netherlands SUMMARY The diagnosis of porencephaly by isotope cisternography is described. In the three cases presented, porencephaly was associated with non-resorptive hydrocephalus. The communi- cating hydrocephalus caused the isotope to enter the ventricular system and visualize the cyst, and the diagnosis of both disorders was established by RIHSA cisternography. The method is simple and non-traumatic and provides information about abnormalities which air may fail to demonstrate. Isotope cisternography has proved to be very plane of the collimator than does the gamma camera. useful in the diagnosis of disturbances of flow Every patient is studied at four, 24, and 48 hours and absorption of cerebrospinal fluid (CSF) and after injection. their resultant hydrocephalus (Di Chiro, Reames, and Matthews, 1964; Bannister, Gliford, and CASE 1 and Protected by copyright. Kocen, 1967; James, DeLand, Hodges, Wag- A 39 year old man suffered a head injury in a road ner, 1970; Front, 1971), and in the recognition of accident. Bleeding was noticed from his nose and CSF rhinorrhoea (Di Chiro and Grove, 1966; mouth but no abnormality was found on neurologi- Di Chiro, Ommaya, Ashburn, and Briner, 1968; cal examination. Plain radiographs of the skull Front and Penning, 1971). showed fractures of the nasal, right maxillary, and In addition, we have found this investigation zygomatic bones. -
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. -
Neonatal Porencephaly and Adult Stroke Related to Mutations in Collagen IV A1
Neonatal Porencephaly and Adult Stroke Related to Mutations in Collagen IV A1 Marjo S. van der Knaap, MD, PhD,1 Leo M. E. Smit, MD, PhD,1 Frederik Barkhof, MD, PhD,2 Yolande A. L. Pijnenburg, MD,3 Sonja Zweegman, MD, PhD,4 Hans W. M. Niessen, MD, PhD,5 Saskia Imhof, MD, PhD,6 and Peter Heutink, PhD7 Objective: The objective of this study was to describe leukoencephalopathy, lacunar infarcts, microbleeds and macro- bleeds in the context of a collagen IV A1 mutation. Methods: We examined a family with autosomal dominant poren- cephaly, in whom a defect in collagen IV A1 was detected recently. The patients underwent neurological, ophthalmo- logical, and cardiological examinations and magnetic resonance imaging of the brain. Electron microscopy of a skin biopsy was performed. Extensive laboratory screening was performed for thrombophilia and increased bleeding tendency. Results: The porencephaly was symptomatic in the infantile period in two patients, whereas it led to only minor neu- rological dysfunction in their affected mother. However, she experienced development of recurrent strokes in her 40s. In addition to the porencephaly, all patients had a leukoencephalopathy, which was most severe in the mother. Her mag- netic resonance imaging results also showed lacunar infarcts, macrobleeds and a multitude of microbleeds. No other risk factors for recurrent stroke were found. Electron microscopy showed interruptions of the basement membrane of skin capillaries and inhomogeneous thickening of the basement membrane with pools of basement membrane fragments. Interpretation: Leukoencephalopathy, ischemic infarcts, microbleeds, and macrobleeds are indicative of an underlying microangiopathy, of which the best-known causes are hypertension, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and cerebral amyloid angiopathy. -
Lack of Serologic Evidence for an Association Between Cache Valley Virus Infection and Anencephaly and Other Neural Tube Defects in Texas
Dispatches Lack of Serologic Evidence for an Association between Cache Valley Virus Infection and Anencephaly and other Neural Tube Defects in Texas We tested the hypothesis that Cache Valley Virus (CVV), an endemic North American bunyavirus, may be involved in the pathogenesis of human neural tube defects. This investigation followed a 1990 and 1991 south Texas outbreak of neural tube defects with a high prevalence of anencephaly and the demonstration in 1987 that in utero infection by CVV was the cause of outbreaks of central nervous system and musculoskeletal defects in North American ruminants. Sera from 74 women who gave birth to infants with neural tube defects in south Texas from 1993 through early 1995 were tested for CVV neutralizing antibody. All tested sera did not neutralize CVV. These data suggest that CVV is not involved in the induction of human neural tube defects during nonepidemic periods but do not preclude CVV involvement during epidemics. Other endemic bunyaviruses may still be involved in the pathogenesis of neural tube defects or other congenital central nervous system or musculoskeletal malformations. Anencephaly, spina bifida, and encephalocele showed that in south Texas during this period the (the major types of neural tube defects) are average annual prevalence of anencephaly was generally due to the failure of the neural tube to approximately 4.9 per 10,000 births. Women with close during early embryonic development (1). Hispanic surnames, three or more previous live Neural tube defects are among the most common births, history of stillbirth, or residence in east or and most severe major birth defects. -
Choroid Plexus Cyst in the Lateral Ventricle Causing Obstructive Symptoms in an Adult
Choroid Plexus Cyst in the Lateral Ventricle Causing Obstructive Symptoms in an Adult Robert J. Dempsey, M.D., and William F. Chandler, M.D. This case of a rare symptomatic choroid plexus cyst in the lateral mission, her headache and visual symptoms had improved ventricle, which presented with papilledema and decreased vi- spontaneously. sion, is the first such lesion found in an adult. Five earlier re- On admission to the University of Michigan Hospital on ported cases, all in children, are discussed, as are the limitations February 29, 1980, she was noted to be obese. Examination of computerized tomographic (CT) scanning and the need for showed normal mental status. Positive neurological findings further radiological studies to establish the diagnosis preopera- included only 4+ papilledema bilaterally and loss of spon- tively. Metrizamide ventriculography with CT scanning is used taneous venous pulsations. The vision was 20/20 bilaterally to define the lesion and plan an operative approach. with full visual fields, and the remainder of her general neurological examination was negative. The patient was evaluated initially with a contrast en- Small cysts of the choroid plexus in the lateral ventricle are chanced CT scan (Fig. 1), which showed a large low- a relatively common finding at autopsy. Netsky and density area in the region of the right lateral ventricle with Shuangshoti [10] noted choroid plexus tubules in folded a mild shift of the midline structures to the left, and an neuroepithelium in some 30% of cases studied. These are anterior shift of the right choroid plexus. The density of the generally less than 1 cm in diameter and do not cause lesion was that of cerebrospinal fluid, and it was considered obstructive symptoms. -
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 ........................................................................................................................................ -
Choroid Plexus Cysts and Aneuploidy
5545 Med Genet 1998;35:554-557 Choroid plexus cysts and aneuploidy David Peleg, Jerome Yankowitz J Med Genet: first published as 10.1136/jmg.35.7.554 on 1 July 1998. Downloaded from Abstract remains controversial and unclear and in need The association of choroid plexus cysts of further study. with fetal aneuploidy, particularly trisomy 18, was first noted in 1986. Through the years there have been numerous reports Methods on this subject, but no consensus has been A Medline search of the English language pub- reached with regard to chromosomal risk. lications from 1980 to 1997 was performed. All In this review, we attempt to summarise articles discussing the association of choroid published reports on second trimester plexus cysts and aneuploidy were evaluated. choroid plexus cysts, with an emphasis on Case reports were excluded. the strengths and weaknesses of each Articles fell into two general categories: (1) report. Based on these reports, additional those discussing the incidence of choroid malformations are a significant risk factor plexus cysts in the general population undergo- for aneuploidy and an indication for ing ultrasound examination with the resulting determination of fetal karyotype. The outcomes of these patients, and (2) those in management of isolated choroid plexus which only patients with CPCs are discussed cysts remains controversial. with the resulting outcomes. (7Med Genet 1998;35:554-557) Data were collected on the size, laterality, complexity, and disappearance of the CPC, as Keywords: choroid plexus cyst; aneuploidy; trisomy 18; well as type of aneuploidy, other associated trisomy 21 anomalies, and maternal age. Associated anomalies included only those detected prena- tally and could either be anatomical (for exam- The choroid plexus develops in the lateral and ple, clenched hand, heart defects) or biometric fourth ventricles and is responsible for the for- (for example, growth restriction or ventricu- mation of cerebrospinal fluid (CSF). -
Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (Vii)
■ REVIEW ARTICLE ■ SYNDROMES, DISORDERS AND MATERNAL RISK FACTORS ASSOCIATED WITH NEURAL TUBE DEFECTS (VII) Chih-Ping Chen1,2,3,4,5* 1Department of Obstetrics and Gynecology, and 2Medical Research, Mackay Memorial Hospital, Taipei, 3Department of Biotechnology, Asia University, 4School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, and 5Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan. SUMMARY Neural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher- Zweymüller syndrome, parietal foramina (cranium bifidum), Apert syndrome, craniomicromelic syndrome, XX- agonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of mater- nal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different -
Left Cerebellar Porencephalic Cysts with Ipsilateral Parieto- Occipital Encephalocoele: Antenal and Post Natal Radiology
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) e-ISSN: 2279-0853, p-ISSN: 2279-0861.Volume 17, Issue 8 Ver. 9 (August. 2018), PP 82-87 www.iosrjournals.org Left Cerebellar Porencephalic Cysts with Ipsilateral Parieto- Occipital Encephalocoele: Antenal and Post Natal Radiology *Grace B. Inah* Nchiewe E. Ani +Gbenga Kajogbola *Department Of Radiology, University Of Calabar Teaching Hospital, Calabar, Nigeria. +Asi-Ukpo Radiodiagnostic Centre, Calabar, Nigeria. Corresponding Author: Dr. Grace B. Inah Abstract: Porencephalic cyst is a rare congenital disorder which may cause a wide range of physiological, physical and neurological symptoms. We present a case of three months old female child diagnosed in utero via sonography and perinatally using Magnetic Resonance Imaging (MRI) as a case of Porencephalic cyst associated with encaphalocoele. The mother presented at the Radiology Department of the University of Calabar Teaching Hospital for routine obstetrics scan at 40 weeks of gestation had a caesarean section at 40 weeks of gestation and was delivered of a live female neonate with APGAR Score of 8, body weight of 4.4kg and no obvious neurological deficits seen. Postnatal MRI of the baby on the 4th day of life also showed a dilated cystic partial replacement of the left cerebellar hemisphere with herniation of the same through a left parieto-occipital defect communicating with the 4th ventricle and pre-pontine cistern. The existence of porencephaly with associated encaphalocoele is rare and an extensive literature search revealed no previous case report as depicted in this report, hence the need to highlight the role of radiology in the diagnosis. -
Fetal Neuroimaging
Fetal and Maternal Medicine Review 2008; 19:1 1–31 C 2008 Cambridge University Press doi:10.1017/S0965539508002106 FETAL NEUROIMAGING 1R.K. POOH AND 2 K.H. POOH 1CRIFM Clinical Research Institute of Fetal Medicine PMC, Osaka, Japan. 2Department of Neurosurgery, Kagawa National Children’s Hospital, Kagawa, Japan. INTRODUCTION Imaging technologies have been remarkably improved and contribute to prenatal evaluation of fetal central nervous system (CNS) development and assessment of CNS abnormalities in utero. Conventional transabdominal ultrasonography, by which it is possible to observe fetuses through the maternal abdominal wall, uterine wall and sometimes placenta, has been most widely utilized for antenatal imaging. By the transabdominal approach, the whole CNS of the fetus can be well demonstrated, for instance, the brain in the axial section and the spine in the sagittal section. However, tissues between the ultrasound probe and the fetus, such as the maternal abdominal wall, placenta and fetal cranial bones, may at times pose significant obstacles to the ultrasound signals and therefore make it difficult to obtain clear and detailed images of the fetal CNS structure. The introduction of high-frequency transvaginal transducers have contributed to the development of “sonoembryology”1 and recent liberal use of transvaginal sonography in early pregnancy has enabled early diagnoses of major fetal anomalies.2 The brain is a three-dimensional structure, and should be assessed in sagittal, coronal and axial planes. Sonographic assessment of the fetal brain in the sagittal and coronal sections requires an approach through the anterior/posterior fontanelle and/or the sagittal suture. Transvaginal sonography of the fetal brain opened a new field in medicine, “neurosonography”.3 Application to the normal fetal brain during the second and third trimesters was introduced in the beginning of 1990s. -
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly a Case Report
ARTICLE OPEN ACCESS Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly A Case Report Mariel W.A. Teunissen, MD, Erik-Jan Kamsteeg, PhD, Suzanne C.E.H. Sallevelt, MD, PhD, Maartje Pennings, Correspondence Noel J.C. Bauer, MD, PhD, R. Jeroen Vermeulen, MD, PhD, and Joost Nicolai, MD, PhD Dr. Nicolai [email protected] Neurol Genet 2021;7:e564. doi:10.1212/NXG.0000000000000564 Abstract Objective We describe a third patient with brain small vessel disease 3 (BSVD3), being the first with a homozygous essential splice site variant in the COLGALT1 gene, with a more severe phenotype than the 2 children reported earlier. Methods Analysis of whole exome sequencing (WES) data of the child and parents was performed. We validated the missplicing of the homozygous variant using reverse transcription PCR and Sanger sequencing of the mRNA in a lymphocyte culture. Results The patient presented antenatally with porencephaly on ultrasound and MRI. Postnatally, he showed a severe developmental delay, refractory epilepsy, spastic quadriplegia, and a pro- gressive hydrocephalus. WES revealed a homozygous canonical splice site variant NM_ 024656.3:c.625-2A>C. PCR and Sanger sequencing of the mRNA demonstrated that 2 cryptic splice sites are activated, causing a frameshift in the major transcript and in-frame deletion in a minor transcript. Conclusions We report a third patient with biallelic pathogenic variants in COLGALT1, confirming the role of this gene in autosomal recessive BSVD3. From the Department of Neurology (M.W.A.T., R.J.V., J.N.), Maastricht University Medical Center+; Department of Human Genetics (E.-J.-K., M.P.), Radboud University Medical Center, Nijmegen; and Department of Human Genetics (S.C.E.H.S.), and University Eye Clinic Maastricht (N.J.C.B.), Maastricht University Medical Center+, the Netherlands.