Colpocephaly

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PICTORIAL INTERLUDE Colpocephaly vale. Hence the secondary dilatation Nicky Wieselthaler MB chá FCRad (D) FCRC (Lond) of the occipital horns. This abnormal- ity is thought to occur at 1 - 4 months' Savvas Andronikou gestation. I MB ChB, FCRad(D), FRCR (Lond) Associated CNS abnormalities Department of Paediatric Radiology Red Cross War Memorial Childrens Hospital include corpus callosum agenesis, University of Cape Town and Institute of Child neuronal migration disorders Health (lissencephaly, pachygyria), schizen- cephaly, microcephaly, meningomye- locoele and hydrocephalus. In corpus Fig. 1. Axial non-contrast CT scan of a chI/d's brain Colpocephaly was first described callosum agenesis often associated with corpus cal/osum agenesis shows the di/ated occipital horns of colpocephaly. The ventricles are by Benda in 1940 and termed vesicu- with Chiari II malformation the ven- also widely spaced and pointed anteriorly. locephaly but was renamed tricles are also widely spaced, parallel colpocephaly by Yakovlev and and pointed anteriorly. Wadsworth in 1946. The clinical features may include The diagnosis of colpocephaly is Colpocephaly is a congenital learning disability, seizures, spasticity, made on cr,MRI or ultrasound (Fig.l). enlargement of the occipital horns of hypotonia and visual abnormalities. the lateral ventricles. This is caused by It has been postulated that certain References a global impairment in brain develop- aetiologies may predispose to l. Cerullo A, Marini C, Ceroli S, Carelli V, ment with aberrant migration of neu- Montagna P, Tinuper P. Colpocephaly in two colpocephaly. These are intra-uterine siblings: Further evidence of a genetic transmis- roblasts resulting in a decreased thick- infection, IUGR, perinatal anoxic sion. Dev Med Child NeuroI2000; 42: 280-282. ness of cerebral white matter in the 2. Noorani P, Bodensteiner J, Barnes P. ischaemie encephalopathy, maternal Colpocephaly: Frequency and associated find- posterior part of the sentrum semio- drug ingestion and trisomy 8 and 9.2 ings. J Child Ne!lroI1988; 3: 100-104. 49 SA JOURNAL OF RADIOLOGY • March 2002.

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Reorganisation of the Visual Cortex in Callosal Agenesis and Colpocephaly
Journal of Clinical Neuroscience (2000) 7(1), 13–15 © 2000 Harcourt Publishers Ltd DOI: 10.1054/ jocn.1998.0105, available online at http://www.idealibrary.com on Clinical study Reorganisation of the visual cortex in callosal agenesis and colpocephaly Richard G. Bittar1,2 MB BS, Alain Ptito1 PHD, Serge O. Dumoulin1, Frederick Andermann1 MD FRCP(C), David C. Reutens1 MD FRACP 1Montreal Neurological Institute and Hospital and Department of Neurology and Neurosurgery, McGill University, Montreal, Canada 2Department of Anatomy and Histology, University of Sydney, Australia Summary Structural defects involving eloquent regions of the cerebral cortex may be accompanied by abnormal localisation of function. Using functional magnetic resonance imaging (fMRI), we studied the organisation of the visual cortex in a patient with callosal agenesis and colpocephaly, whose visual acuity and binocular visual fields were normal. The stimulus used was a moving grating confined to one hemifield, on a background of moving dots. In addition to activation patterns elicited by stimulation of each hemifield in the patient, the activation pattern was compared to that seen in six normal volunteers. fMRI demonstrated large scale reorganisation of visual cortical areas in the left hemisphere, and fewer activation foci were observed in both occipital lobes when compared with normal subjects. © 2000 Harcourt Publishers Ltd Keywords: functional magnetic resonance imaging, vision, colpocephaly, callosal agenesis, reorganisation INTRODUCTION showed interictal slow wave activity throughout the right hemi- sphere and seizures with onset in the right temporo-frontal region. An exciting application of non-invasive functional brain mapping Ictal Tc99m HMPAO single photon emission computed tomography techniques such as functional magnetic resonance imaging (fMRI) (SPECT) revealed a diffuse increase in perfusion within the right is the study of cortical sensory and motor reorganisation following cerebral hemisphere.
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Colpocephaly Diagnosed in a Neurologically Normal Adult in the Emergency Department
CASE REPORT Colpocephaly Diagnosed in a Neurologically Normal Adult in the Emergency Department Christopher Parker, DO University of Illinois College of Medicine, Department of Emergency Medicine, Wesley Eilbert, MD Chicago, Illinois Timothy Meehan, MD Christopher Colbert, DO Section Editor: Rick A. McPheeters, DO Submission history: Submitted July 25, 2019; Revision received September 18, 2019; Accepted September 26, 2019 Electronically published October 21, 2019 Full text available through open access at http://escholarship.org/uc/uciem_cpcem DOI: 10.5811/cpcem.2019.9.44646 Colpocephaly is a form of congenital ventriculomegaly characterized by enlarged occipital horns of the lateral ventricles with associated neurologic abnormalities. The diagnosis of colpocephaly is typically made in infancy. Its diagnosis in adulthood without associated clinical symptoms is exceptionally rare. We report a case of colpocephaly diagnosed incidentally in an adult without neurologic abnormalities in the emergency department. To our knowledge, this is only the ninth reported case in an asymptomatic adult and the first to be described in the emergency medicine literature. [Clin Pract Cases Emerg Med. 2019;3(4):421–424.] INTRODUCTION been treated at four different EDs in the two weeks prior to Colpocephaly is a rare form of congenital presentation for the headaches, but no imaging studies had ventriculomegaly often associated with partial or been performed. The patient had no psychiatric history. His complete agenesis of the corpus callosum. Diagnosis is highest level of education was a high school diploma, and typically made in infancy due to associated neurological he was unemployed. and neurodevelopmental disorders.1,2 Initial discovery On arrival, the patient was afebrile with pulse, blood in adulthood is exceedingly rare.3-9 When identified pressure, and respiratory rate all within the normal range.
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Bilateral Posterior Periventricular Nodular Heterotopia: a Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities
ORIGINAL RESEARCH PEDIATRICS Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities S.A. Mandelstam, R.J. Leventer, A. Sandow, G. McGillivray, M. van Kogelenberg, R. Guerrini, S. Robertson, S.F. Berkovic, G.D. Jackson, and I.E. Scheffer ABSTRACT BACKGROUND AND PURPOSE: Bilateral posterior PNH is a distinctive complex malformation with imaging features distinguishing it from classic bilateral PNH associated with FLNA mutations. The purpose of this study was to define the imaging features of posterior bilateral periventricular nodular heterotopia and to determine whether associated brain malformations suggest specific subcategories. MATERIALS AND METHODS: We identified a cohort of 50 patients (31 females; mean age, 13 years) with bilateral posterior PNH and systematically reviewed and documented associated MR imaging abnormalities. Patients were negative for mutations of FLNA. RESULTS: Nodules were often noncontiguous (n ϭ 28) and asymmetric (n ϭ 31). All except 1 patient showed associated developmental brain abnormalities involving a spectrum of posterior structures. A range of posterior fossa abnormalities affected the cerebellum, including cerebellar malformations and posterior fossa cysts (n ϭ 38). Corpus callosum abnormalities (n ϭ 40) ranged from mild dysplasia to agenesis. Posterior white matter volume was decreased (n ϭ 22), and colpocephaly was frequent (n ϭ 26). Most (n ϭ 40) had associated cortical abnormalities ranging from minor to major (polymicrogyria), typically located in the cortex overlying the PNH. Abnormal Sylvian fissure morphology was common (n ϭ 27), and hippocampal abnormalities were frequent (n ϭ 37). Four family cases were identified—2 with concordant malformation patterns and 2 with discordant malformation patterns.
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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.
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Dyskeratosis Congenita
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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 ........................................................................................................................................
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Syndromes with Lissencephaly
JMed Genet 1996;33:319-323 319 Syndrome of the month J Med Genet: first published as 10.1136/jmg.33.4.319 on 1 April 1996. Downloaded from Syndromes with lissencephaly D T Pilz, 0 W J Quarrell Earl Walker's paper in 1942 represents a de- logical types, assigned these to previously de- tailed review of early described cases of lis- scribed cases or syndromes, and discussed sencephaly and states that Owen (On the possible genetic mechanisms.67 The two main Institute of Medical anatomy of vertebrates, vol 3, London: Genetics, Long- pathological types he described provide a useful University Hospital of mans, Green & Co, 1868) is said to have basis on which to review "syndromes with lis- Wales, introduced the term lissencephaly to describe sencephaly". Heath Park, an agyric brain, from the Greek words "lissos" Cardiff CF4 4XN, UK D T Pilz (smooth) and "encephalus" (brain).' Key word: lissencephaly. Further reports of lissencephaly followed by Centre for Human Miller,2 Dieker et al,3 Warburg,45 and others and Genetics, their contributions are recognised in syndromes Type I or classical lissencephaly 117 Manchester Road, PREVALENCE Sheffield S10 5DN, UK now known as Miller-Dieker syndrome and 0 W J Quarrell Walker-Warburg syndrome. The only epidemiological data on the pre- valence of type I lissencephaly come from The Correspondence to: In his detailed analysis in 1984/85, Dobyns Dr Pilz. categorised lissencephaly into different patho- Netherlands, with 11-7 per million births.8 PATHOLOGY AND NEUROIMAGING Type I lissencephaly results from a neuro- migrational arrest between 12 and 16 weeks' gestation, and histologically the cortex has four instead ofsix layers.
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Cranial Findings Detected by Second‐Trimester Ultrasound in Fetuses With
DOI: 10.1111/1471-0528.16496 Systematic Review www.bjog.org Advances in imaging Cranial findings detected by second-trimester ultrasound in fetuses with myelomeningocele: a systematic review Y Kunpalin,a,b J Richter,b,c N Mufti,a J Bosteels,b,d S Ourselin,e P De Coppi,b,f D Thompson,g AL David,a,b J Depresta,b,c a Elizabeth Garrett Anderson Institute for Women’s Health, University College London, London, UK b Department of Development and Regeneration, Biomedical Sciences, KU Leuven, Leuven, Belgium c Department of Obstetrics and Gynaecology, University Hospitals Leuven, Leuven, Belgium d Cochrane Belgium, Belgian Centre for Evidence-Based Medicine (Cebam), Leuven, Belgium e School of Biomedical Engineering & imaging Sciences, King’s College London, London, UK f Department of General Paediatric Surgery, Great Ormond Street Institute of Child Health, University College London, London, UK g Department of Paediatric Neurosurgery, Great Ormond Street Institute of Child Health, University College London, London, UK Correspondence: J Deprest, Department of Development and Regeneration, Biomedical Sciences, KU Leuven, 3000 Leuven, Belgium. Email: [email protected] Accepted 3 September 2020. Background Abnormal intracranial findings are often detected at circumference (HC) (<5th centile; 53 and 71%, respectively), mid-trimester ultrasound (US) in fetuses with myelomeningocele ventriculomegaly (45–89%), abnormal pointed shape of the (MMC). It is unclear whether these findings constitute a spectrum occipital horn (77–78%), thinning of the posterior cerebrum, of the disease or are an independent finding, which should perinodular heterotopia (11%), abnormal gyration (3%), corpus contraindicate fetal surgery. callosum disorders (60%) and midline interhemispheric cyst (42%).
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A Very Rare Case of Colpocephaly Associated with Trisomy18 Layout 1
Case Report A Very Rare Case of Colpocephaly Associated With Trisomy 18 Seyfettin ULUDAĞ, Yavuz AYDIN, Begüm AYDOĞAN, Burcu AYDIN İstanbul, Turkey We presented a very rare case of colphocephaly which is a term used to describe a congenital abnor- mal enlargement of the occipital horns of the lateral ventricules associated with normal frontal horns. A variety of cranial abnormalities and syndromes were associated with colphocephaly such as such as lissencephaly type 1, linear nevus sebaceous syndrome, Marden-Walker syndrome, tourette syndrome, Aicardi syndrome, trisomy 8 mosaic, trisomy 9 mosaic, Norman-Roberts syndrome, Zellweger syn- drome, Nijmegen breakage syndrome, hemimegalencephaly, Chudley-McCullough syndrome; but as- sociation of colphocephaly with trisomy 18 case has not been identified up to now. Key Words: Colphocephaly, Trisomy 18, Cranial-abnormalities, Syndrome Gynecol Obstet Reprod Med 2012;18:83-85 Introduction A variety of cranial abnormalities are seen in trisomy 18 fetuses however colpocephaly finding has not been identified Colpocephaly is a term used to describe a congenital ab- until now. normal enlargement of the occipital horns of the lateral ven- tricules associated with normal frontal horns.In 1940 Benda Case Report first recognized the "failure of decrease in the size of the prim- itive brain vesicles" in a mentally retarded boy with epilepsy A 23-year-old, gravida 2, para 1, woman admitted to our and microcephaly who, on neuropathological examination, hospital at 17 weeks of gestation for routine prenatal also had an absent corpus callosum, micro- and macrogyria, visit.Obstetric ultrasonography revealed fetal bilateral and gray matter heterotopia. He used the term "vesiculo- colpocephaly, atrioventricular septal defect (AVSD), nasal cephaly" for this ventricular configuration.1 Afterwards In bone hypoplasia.Other fetal intracranial structures were found 1946 Yakovlev and Wadsworth used the term colpocephaly to be normal at ultrasonography (Figure 1).
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