For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
48
views
5
references
 Top references
cited by
1
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      76
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Septal agenesis and lissencephaly with colpocephaly presenting as the ‘Crown Sign’

      other

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Developmental malformations of the cortex in neuronal migration disorders result in constellation of findings on radiological scanning. Isolated defects are common but sometimes they occur in varying degrees of combination giving a unique appearance on the imaging studies. We describe a case of neuronal migration disorder in which the computed tomography scan showed the presence of lissencephaly, colpocephaly. and Septal agenesis. These findings make the ventricular system appear in shape of a crown, which we refer to as “CROWN SIGN”, first described in neurosurgical literature..

          Related collections

          Most cited references5

          • Record: found
          • Abstract: found
          • Article: not found

          Lissencephaly-pachygyria associated with congenital cytomegalovirus infection.

          Deena Zimmerman, David Titelbaum, J Hayward … (1991)
          We report the presence of major cerebral migrational defects in five severely, multiply handicapped children with congenital cytomegalovirus (CMV) infection. These patients had both computed tomographic (CT) scan and magnetic resonance imaging (MRI) evidence of marked migrational central nervous system defects consistent anatomically with the spectrum of lissencephaly-pachygyria, a disorder commonly idiopathic or associated with chromosomal abnormalities or with unknown early gestational insults. Neuroradiologic features included broad, flat gyri, shallow sulci, incomplete opercularization, ventriculomegaly, periventricular calcifications, and white-matter hypodensity on CT scans or increased signal intensity on long-TR MRI scans. Evidence for congenital CMV infection included prenatal onset of microcephaly, periventricular calcifications, neonatal jaundice, hepatomegaly, elevated CMV-specific immunoglobulin M, or viral isolation from urine. Previous reports of the neurologic sequelae of CMV have emphasized varying degrees of psychomotor retardation, cerebral palsy and epilepsy due to polymicrogyria, periventricular calcification, microcephaly, or rarely, hydrocephalus. Our patients appear to represent extremely severe examples of the effects of CMV on neurologic growth, maturation, and development. Recognition of these severe migrational abnormalities was improved by use of MRI, a technique that affords superior definition of the nature and extent of gyral and white-matter abnormalities. We suggest that these abnormalities may be more common than has previously been recognized.
          Article 0 comments Cited 10 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            [Genetic and clinical aspects of lissencephaly].

            Pierre Gressens, Annie Laquerriere, Natalia Gonzales … (2007)
            The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. Children with lissencephaly have feeding and swallowing problems, muscle tone anomalies (early hypotonia and subsequently limb hypertonia), seizures (in particular, infantile spasms) and severe psychomotor retardation. Multiple forms of lissencephaly have been described and their current classification is based on the associated malformations and underlying aetiology. Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. In classical lissencephaly (or type I), the cortex appears thickened, with four more or less disorganised layers rather than six normal layers. In the variants of classical lissencephaly, extra-cortical anomalies are also present (total or subtotal agenesis of the corpus callosum and/or cerebellar hypoplasia). The classical lissencephalies and the variant forms can be further divided into several subgroups. Four forms can be distinguished on the basis of their genetic aetiology: anomalies in the LIS1 gene (isolated lissencephaly and Miller-Dieker syndrome), anomalies in the TUBA3 and DCX genes, and lissencephalies caused by mutations in the ARX gene (XLAG syndrome, X-linked lissencephaly with agenesis of the corpus callosum). The incidence of all forms of type I lissencephaly is around 1 in 100,000 births. In addition to these four entities, isolated lissencephalies without a known genetic defect, lissencephalies with severe microcephaly (microlissencephaly) and lissencephalies associated with polymalformative syndromes are also included in the group of classical lissencephalies. Cobblestone lissencephaly (formally referred to as type II) is present in three entities: the Walker-Warburg, Fukuyama and MEB (Muscle-Eye-Brain) syndromes. It is characterised by global disorganisation of cerebral organogenesis with an uneven cortical surface (with a pebbled or cobblestone appearance). Microscopic examination reveals total disorganisation of the cortex and the absence of any distinguishable layers. Management is symptomatic only (swallowing problems require adapted feeding to prevent food aspiration, articular and respiratory physiotherapy to prevent orthopaedic problems resulting from hyptonia and treatment of gastrooesophageal reflux). The epilepsy is often resistant to treatment. The encephalopathy associated with lissencephaly is often very severe and affected children are completely dependent on the carer.
            Article 0 comments Cited 5 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Clinical manifestations and evaluation of isolated lissencephaly.

              W Dobyns, L. Pavone, R Rizzo (1993)
              Lissencephaly ("smooth brain") is a brain malformation characterized by a smooth cerebral surface, incomplete neuronal migration, and secondary abnormalities such as mental retardation, seizures, and minor facial dysmorphisms. Recent reports have produced evidence supporting several different causes including submicroscopic deletions in chromosome band 17p13.3, autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. We describe the clinical manifestations in seven patients with lissencephaly, and review pertinent studies regarding possible causes. The clinical manifestations were uniformly severe. All patients had severe mental retardation, hypotonia, often combined with spastic paralysis, and infantile spasms which did not respond to treatment. Most had poor growth, postnatal microcephaly, feeding problems, and frequent respiratory infections including pneumonia. None had other significant birth defects. Appropriate studies include computed tomography or magnetic resonance imaging (sometimes both), chromosome analysis, DNA analysis of the lissencephaly region on chromosome 17, electroencephalography and sometimes metabolic studies.
              Article 0 comments Cited 3 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): J Pediatr Neurosci
                Journal ID (publisher-id): JPN
                Title: Journal of Pediatric Neurosciences
                Publisher: Medknow Publications (India )
                ISSN (Print): 1817-1745
                ISSN (Electronic): 1998-3948
                Publication date (Print): Jul-Dec 2010
                Volume: 5
                Issue: 2
                Pages: 121-123
                Affiliations
                Department of Neurosurgery, Heritage Hospital, Agra, India
                [1 ]Pusphanjali Hospital, Agra, India
                Author notes
                Address for correspondence: Dr. Namit Singhal, 98, Gandhi Nagar, Agra - 282 003, Uttar Pradesh, India. E-mail: singhalnamit@ 123456yahoo.co.in
                Article
                Publisher ID: JPN-5-121
                DOI: 10.4103/1817-1745.76106
                PMC ID: 3087987
                PubMed ID: 21559156
                SO-VID: 9ccf8bb6-587a-48ea-b6f8-c79cc4953122
                Copyright © © Journal of Pediatric Neurosciences
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Subject: Neuroimaging

                ScienceOpen disciplines: Neurosciences
                Keywords: septal agenesis,lissencephaly,colpocephaly,crown sign
                Data availability:
                ScienceOpen disciplines: Neurosciences
                Keywords: septal agenesis, lissencephaly, colpocephaly, crown sign

                Comments

                Comment on this article

                scite_

                Similar content76

                See all similar

                Cited by1

                See all cited by

                Most referenced authors24

                See all reference authors